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| 2 | Autosomal dominant iris hypoplasia is caused by a mutation in the Rieger syndrome (RIEG/PITX2) gene. (Alward WL, Semina EV, Kalenak JW, Héon E, Sheth BP, Stone EM, Murray JC) Am J Ophthalmol 1998 Jan;125(1):98-100 126 Citations |
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| 1 | Mutations in Drosophila enabled and rescue by human vasodilator-stimulated phosphoprotein (VASP) indicate important functional roles for Ena/VASP homology domain 1 (EVH1) and EVH2 domains. (Ahern-Djamali SM, Comer AR, Bachmann C, Kastenmeier AS, Reddy SK, Beckerle MC, Walter U, Hoffmann FM) Mol Biol Cell 1998 Aug;9(8):2157-71 93 Citations |
| 1 | Point mutation in trkB causes loss of NT4-dependent neurons without major effects on diverse BDNF responses. (Minichiello L, Casagranda F, Tatche RS, Stucky CL, Postigo A, Lewin GR, Davies AM, Klein R) Neuron 1998 Aug;21(2):335-45 161 Citations |
| 1 | CLCN5 chloride-channel mutations in six new North American families with X-linked nephrolithiasis. (Hoopes RR Jr, Hueber PA, Reid RJ Jr, Braden GL, Goodyer PR, Melnyk AR, Midgley JP, Moel DI, Neu AM, VanWhy SK, Scheinman SJ) Kidney Int 1998 Sep;54(3):698-705 56 Citations |
| 1 | A frameshift mutation at Gly975 in the transmembrane domain of GPIIb prevents GPIIb-IIIa expression--analysis of two novel mutations in a kindred with type I glanzmann thrombasthenia. (Scott JP 3rd, Scott JP 2nd, Chao YL, Newman PJ, Ward CM) Thromb Haemost 1998 Oct;80(4):546-50 9 Citations |
| 1 | p53 mutations and expression in ovarian cancers: correlation with overall survival. (Wen WH, Reles A, Runnebaum IB, Sullivan-Halley J, Bernstein L, Jones LA, Felix JC, Kreienberg R, el-Naggar A, Press MF) Int J Gynecol Pathol 1999 Jan;18(1):29-41 131 Citations |
| 1 | Differences in patterns of TP53 and KRAS2 mutations in a large series of endometrial carcinomas with or without microsatellite instability. (Swisher EM, Peiffer-Schneider S, Mutch DG, Herzog TJ, Rader JS, Elbendary A, Goodfellow PJ) Cancer 1999 Jan 01;85(1):119-26 38 Citations |
| 1 | ERGIC-53 gene structure and mutation analysis in 19 combined factors V and VIII deficiency families. (Nichols WC, Terry VH, Wheatley MA, Yang A, Zivelin A, Ciavarella N, Stefanile C, Matsushita T, Saito H, de Bosch NB, Ruiz-Saez A, Torres A, Thompson AR, Feinstein DI, White GC, Negrier C, Vinciguerra C, Aktan M, Kaufman RJ, Ginsburg D, Seligsohn U) Blood 1999 Apr 01;93(7):2261-6 71 Citations |
| 1 | A null mutation in murine CD36 reveals an important role in fatty acid and lipoprotein metabolism. (Febbraio M, Abumrad NA, Hajjar DP, Sharma K, Cheng W, Pearce SF, Silverstein RL) J Biol Chem 1999 Jul 02;274(27):19055-62 671 Citations |
| 1 | Mutational analysis of the PMS2 gene in sporadic endometrial cancers with microsatellite instability. (Basil JB, Swisher EM, Herzog TJ, Rader JS, Elbendary A, Mutch DG, Goodfellow PJ) Gynecol Oncol 1999 Sep;74(3):395-9 14 Citations |
| 1 | Mutations in COL11A2 cause non-syndromic hearing loss (DFNA13). (McGuirt WT, Prasad SD, Griffith AJ, Kunst HP, Green GE, Shpargel KB, Runge C, Huybrechts C, Mueller RF, Lynch E, King MC, Brunner HG, Cremers CW, Takanosu M, Li SW, Arita M, Mayne R, Prockop DJ, Van Camp G, Smith RJ) Nat Genet 1999 Dec;23(4):413-9 202 Citations |
| 2 | Mutational analysis of the binding site residues of the bovine cation-dependent mannose 6-phosphate receptor. (Olson LJ, Hancock MK, Dix D, Kim JJ, Dahms NM) J Biol Chem 1999 Dec 24;274(52):36905-11 29 Citations |
| 1 | Screening for MEN1 mutations in patients with atypical endocrine neoplasia. (Dackiw AP, Cote GJ, Fleming JB, Schultz PN, Stanford P, Vassilopoulou-Sellin R, Evans DB, Gagel RF, Lee JE) Surgery 1999 Dec;126(6):1097-103; discussion 1103-4 52 Citations |
| 1 | Five novel mutations in the familial multiple endocrine neoplasia type 1 (MEN1) gene. Mutations in brief no. 188. Online. (Cote GJ, Lee JE, Evans DB, Huang E, Schultz PN, Dang GT, Qiu H, Shetelbine S, Sellin RV, Gagel RF) Hum Mutat 1998;12(3):219 7 Citations |
| 1 | Detection of a common mutation in the RSH or Smith-Lemli-Opitz syndrome by a PCR-RFLP assay: IVS8-G-->C is found in over sixty percent of US propositi. (Yu H, Tint GS, Salen G, Patel SB) Am J Med Genet 2000 Feb 14;90(4):347-50 49 Citations |
| 1 | The zebrafish young mutation acts non-cell-autonomously to uncouple differentiation from specification for all retinal cells. (Link BA, Fadool JM, Malicki J, Dowling JE) Development 2000 May;127(10):2177-88 97 Citations |
| 1 | Spectrum of Delta(7)-dehydrocholesterol reductase mutations in patients with the Smith-Lemli-Opitz (RSH) syndrome. (Yu H, Lee MH, Starck L, Elias ER, Irons M, Salen G, Patel SB, Tint GS) Hum Mol Genet 2000 May 22;9(9):1385-91 90 Citations |
| 1 | Mismatch repair deficient human cells: spontaneous and MNNG-induced mutational spectra in the HPRT gene. (Tomita-Mitchell A, Kat AG, Marcelino LA, Li-Sucholeiki XC, Goodluck-Griffith J, Thilly WG) Mutat Res 2000 May 30;450(1-2):125-38 34 Citations |
| 1 | Split-hand/split-foot malformation is caused by mutations in the p63 gene on 3q27. (Ianakiev P, Kilpatrick MW, Toudjarska I, Basel D, Beighton P, Tsipouras P) Am J Hum Genet 2000 Jul;67(1):59-66 231 Citations |
| 1 | Alcohol consumption and cigarette smoking increase the frequency of p53 mutations in non-small cell lung cancer. (Ahrendt SA, Chow JT, Yang SC, Wu L, Zhang MJ, Jen J, Sidransky D) Cancer Res 2000 Jun 15;60(12):3155-9 133 Citations |
| 1 | Surface expression of glycoprotein ib alpha is dependent on glycoprotein ib beta: evidence from a novel mutation causing Bernard-Soulier syndrome. (Moran N, Morateck PA, Deering A, Ryan M, Montgomery RR, Fitzgerald DJ, Kenny D) Blood 2000 Jul 15;96(2):532-9 57 Citations |
| 1 | Malaria susceptibility and CD36 mutation. (Aitman TJ, Cooper LD, Norsworthy PJ, Wahid FN, Gray JK, Curtis BR, McKeigue PM, Kwiatkowski D, Greenwood BM, Snow RW, Hill AV, Scott J) Nature 2000 Jun 29;405(6790):1015-6 196 Citations |
| 1 | Identification of in vivo mutations in exon 5 of the human HPRT gene in a set of pooled T-cell mutants by constant denaturant capillary electrophoresis (CDCE). (Fält S, Kumar R, Wennborg A, Tomita-Mitchell A, Thilly WG, Lambert B) Mutat Res 2000 Jul 20;452(1):57-66 |
| 1 | Screening of six racial groups for the intron 5 G-->A 3' splice acceptor mutation responsible for the polynesian kidd (a-b-) phenotype: the null mutation is not always associated with the JKB allele. (Ekman GC, Hessner MJ) Transfusion 2000 Jul;40(7):888-9 14 Citations |
| 1 | Spectrum of Δ7-dehydrocholesterol reductase mutations in patients with the Smith-Lemli-Opitz (RSH) syndrome (Human Molecular Genetics (2000) vol.9 (1385-1391)) (Yu H, Lee MH, Starch L, Elias ER, Irons M, Salen G, Patel SB, Tint GS) Human Molecular Genetics 2000;9(12):1903 |
| 1 | Absence of PTEN repeat tract mutation in endometrial cancers with microsatellite instability. (Cohn DE, Basil JB, Venegoni AR, Mutch DG, Rader JS, Herzog TJ, Gersell DJ, Goodfellow PJ) Gynecol Oncol 2000 Oct;79(1):101-6 26 Citations |
| 1 | Erratum: Mutational analysis of the PMS2 gene in sporadic endometrial cancers with microsatellite instability (Gynecologic Oncology (1999) 74:3 (395-399)) (Basil JB, Swisher EM, Herzog TJ, Rader JS, Elbendary A, Mutch DG, Goodfellow PJ) Gynecologic Oncology 2001;80(1):109 |
| 1 | No evidence for BCL10 mutation in endometrial cancers with microsatellite instability. (Cohn D, Mutch D, Elbendary A, Rader J, Herzog T, Goodfellow P) Hum Mutat 2001 Feb;17(2):117-21 5 Citations |
| 2 | A multi-site study for detection of the factor V (Leiden) mutation from genomic DNA using a homogeneous invader microtiter plate fluorescence resonance energy transfer (FRET) assay. (Ledford M, Friedman KD, Hessner MJ, Moehlenkamp C, Williams TM, Larson RS) J Mol Diagn 2000 May;2(2):97-104 35 Citations |
| 1 | Identification of a dominant negative homeodomain mutation in Rieger syndrome. (Saadi I, Semina EV, Amendt BA, Harris DJ, Murphy KP, Murray JC, Russo AF) J Biol Chem 2001 Jun 22;276(25):23034-41 76 Citations |
| 1 | [Expression of p21 WAF1/CIP1 protein in colorectal cancers: study of its relation to p53 mutation and Ki67 antigen expression]. (Chapusot C, Assem M, Martin L, Chalabreyssse L, Benhamiche AM, Lignier MA, Chauffert B, Teyssier JR, Faivre J, Piard F) Pathol Biol (Paris) 2001 Mar;49(2):115-23 2 Citations |
| 1 | Microsatellite instability and mutational analysis of transforming growth factor beta receptor type II gene (TGFBR2) in sporadic ovarian cancer. (Alvi AJ, Rader JS, Broggini M, Latif F, Maher ER) Mol Pathol 2001 Aug;54(4):240-3 16 Citations |
| 1 | The perplexed and confused mutations affect distinct stages during the transition from proliferating to post-mitotic cells within the zebrafish retina. (Link BA, Kainz PM, Ryou T, Dowling JE) Dev Biol 2001 Aug 15;236(2):436-53 25 Citations |
| 2 | Multisite study for genotyping of the factor II (prothrombin) G20210A mutation by the invader assay. (Hessner MJ, Friedman KD, Voelkerding KV, Huber S, Ryan D, Nuccie B, Ledford M) Clin Chem 2001 Nov;47(11):2048-50 10 Citations |
| 1 | Progressive arterial thrombosis in a patient with non-Hodgkin's lymphoma, a lupus anticoagulant, factor V Leiden mutation and paraprotein, following chemotherapy. (Shaw BE, Perry D, Hoffbrand AV) Leuk Lymphoma 2001 Jun;42(1-2):221-3 9 Citations |
| 1 | DNA adducts, genetic polymorphisms, and K-ras mutation in human pancreatic cancer. (Li D, Firozi PF, Zhang W, Shen J, DiGiovanni J, Lau S, Evans D, Friess H, Hassan M, Abbruzzese JL) Mutat Res 2002 Jan 15;513(1-2):37-48 74 Citations |
| 1 | Somatic mutation of vascular endothelial growth factor receptors in juvenile hemangioma. (Walter JW, North PE, Waner M, Mizeracki A, Blei F, Walker JW, Reinisch JF, Marchuk DA) Genes Chromosomes Cancer 2002 Mar;33(3):295-303 179 Citations |
| 1 | Moderate G6PD deficiency increases mutation rates in the brain of mice. (Felix K, Rockwood LD, Pretsch W, Nair J, Bartsch H, Bornkamm GW, Janz S) Free Radic Biol Med 2002 Apr 01;32(7):663-73 20 Citations |
| 1 | Mutation screening analysis of the retinoblastoma related gene RB2/p130 in sporadic ovarian cancer and head and neck squamous cell cancer. (Alvi AJ, Hogg R, Rader JS, Kuo MJ, Maher ER, Latif F) Mol Pathol 2002 Jun;55(3):153-5 11 Citations |
| 1 | Lymphopenia in the BB rat model of type 1 diabetes is due to a mutation in a novel immune-associated nucleotide (Ian)-related gene. (MacMurray AJ, Moralejo DH, Kwitek AE, Rutledge EA, Van Yserloo B, Gohlke P, Speros SJ, Snyder B, Schaefer J, Bieg S, Jiang J, Ettinger RA, Fuller J, Daniels TL, Pettersson A, Orlebeke K, Birren B, Jacob HJ, Lander ES, Lernmark A) Genome Res 2002 Jul;12(7):1029-39 192 Citations |
| 1 | Linkage stratification and mutation analysis at the Parkin locus identifies mutation positive Parkinson's disease families. (Nichols WC, Pankratz N, Uniacke SK, Pauciulo MW, Halter C, Rudolph A, Conneally PM, Foroud T) J Med Genet 2002 Jul;39(7):489-92 51 Citations |
| 1 | Exclusion of PITX2 mutations as a major cause of CHARGE association. (Martin DM, Probst FJ, Fox SE, Schimmenti LA, Semina EV, Hefner MA, Belmont JW, Camper SA) Am J Med Genet 2002 Jul 22;111(1):27-30 19 Citations |
| 1 | A novel connexin 26 compound heterozygous mutation results in deafness. (Harris KC, Erbe CB, Firszt JB, Flanary VA, Wackym PA) Laryngoscope 2002 Jul;112(7 Pt 1):1159-62 6 Citations |
| 1 | An R5L tau mutation in a subject with a progressive supranuclear palsy phenotype. (Poorkaj P, Muma NA, Zhukareva V, Cochran EJ, Shannon KM, Hurtig H, Koller WC, Bird TD, Trojanowski JQ, Lee VM, Schellenberg GD) Ann Neurol 2002 Oct;52(4):511-6 175 Citations |
| 1 | Genomic instability in mouse Burkitt lymphoma is dominated by illegitimate genetic recombinations, not point mutations. (Rockwood LD, Torrey TA, Kim JS, Coleman AE, Kovalchuk AL, Xiang S, Ried T, Morse HC 3rd, Janz S) Oncogene 2002 Oct 17;21(47):7235-40 24 Citations |
| 1 | Diabetes mutations delineate an atypical POU domain in HNF-1alpha. (Chi YI, Frantz JD, Oh BC, Hansen L, Dhe-Paganon S, Shoelson SE) Mol Cell 2002 Nov;10(5):1129-37 88 Citations |
| 1 | Systemic mastocytosis with associated clonal hematological non-mast-cell lineage disease: analysis of clinicopathologic features and activating c-kit mutations. (Pullarkat VA, Bueso-Ramos C, Lai R, Kroft S, Wilson CS, Pullarkat ST, Bu X, Thein M, Lee M, Brynes RK) Am J Hematol 2003 May;73(1):12-7 78 Citations |
| 1 | Identification and functional characterization of a novel mutation of hepatocyte nuclear factor-1alpha gene in a Korean family with MODY3. (Kim KA, Kang K, Chi YI, Chang I, Lee MK, Kim KW, Shoelson SE, Lee MS) Diabetologia 2003 May;46(5):721-7 23 Citations |
| 1 | Does JAGGED 1 have a role in the pathogenesis of biliary atresia? The significance of JAGGED 1 mutations detected in severe cases of extrahepatic biliary atresia: Commentary (Mack CL) Journal of Pediatric Gastroenterology and Nutrition May 2003;36(5):654-655 |
| 1 | Prevalence of defective DNA mismatch repair and MSH6 mutation in an unselected series of endometrial cancers. (Goodfellow PJ, Buttin BM, Herzog TJ, Rader JS, Gibb RK, Swisher E, Look K, Walls KC, Fan MY, Mutch DG) Proc Natl Acad Sci U S A 2003 May 13;100(10):5908-13 200 Citations |
| 1 | Positional cloning of the young mutation identifies an essential role for the Brahma chromatin remodeling complex in mediating retinal cell differentiation. (Gregg RG, Willer GB, Fadool JM, Dowling JE, Link BA) Proc Natl Acad Sci U S A 2003 May 27;100(11):6535-40 84 Citations |
| 1 | Targeted mutation of the outer membrane protein P66 disrupts attachment of the Lyme disease agent, Borrelia burgdorferi, to integrin alphavbeta3. (Coburn J, Cugini C) Proc Natl Acad Sci U S A 2003 Jun 10;100(12):7301-6 92 Citations |
| 1 | Increased H(2)O(2) counteracts the vasodilator and natriuretic effects of superoxide dismutation by tempol in renal medulla. (Chen YF, Cowley AW Jr, Zou AP) Am J Physiol Regul Integr Comp Physiol 2003 Oct;285(4):R827-33 111 Citations |
| 2 | Survival advantage associated with heterozygous factor V Leiden mutation in patients with severe sepsis and in mouse endotoxemia. (Kerlin BA, Yan SB, Isermann BH, Brandt JT, Sood R, Basson BR, Joyce DE, Weiler H, Dhainaut JF) Blood 2003 Nov 01;102(9):3085-92 140 Citations |
| 1 | Milder presentation of recessive polycystic kidney disease requires presence of amino acid substitution mutations. (Furu L, Onuchic LF, Gharavi A, Hou X, Esquivel EL, Nagasawa Y, Bergmann C, Senderek J, Avner E, Zerres K, Germino GG, Guay-Woodford LM, Somlo S) J Am Soc Nephrol 2003 Aug;14(8):2004-14 105 Citations |
| 1 | Mutation of lasA and lasB reduces Pseudomonas aeruginosa invasion of epithelial cells. (Cowell BA, Twining SS, Hobden JA, Kwong MSF, Fleiszig SMJ) Microbiology (Reading) 2003 Aug;149(Pt 8):2291-2299 93 Citations |
| 1 | The mutational spectrum of the HPRT gene from human T cells in vivo shares a significant concordant set of hot spots with MNNG-treated human cells. (Tomita-Mitchell A, Ling LL, Glover CL, Goodluck-Griffith J, Thilly WG) Cancer Res 2003 Sep 15;63(18):5793-8 10 Citations |
| 1 | Mutations in and near the second calcium-binding domain of integrin alphaIIb affect the structure and function of integrin alphaIIbbeta3. (Gidwitz S, Temple B, White GC 2nd) Biochem J 2004 Apr 15;379(Pt 2):449-59 5 Citations |
| 1 | VSX1 (RINX) mutation with craniofacial anomalies, empty sella, corneal endothelial changes, and abnormal retinal and auditory bipolar cells. (Mintz-Hittner HA, Semina EV, Frishman LJ, Prager TC, Murray JC) Ophthalmology 2004 Apr;111(4):828-36 43 Citations |
| 2 | Connexin 26 and connexin 30 mutations in children with nonsyndromic hearing loss. (Erbe CB, Harris KC, Runge-Samuelson CL, Flanary VA, Wackym PA) Laryngoscope 2004 Apr;114(4):607-11 30 Citations |
| 1 | Penetrance and expressivity of MSH6 germline mutations in seven kindreds not ascertained by family history. (Buttin BM, Powell MA, Mutch DG, Babb SA, Huettner PC, Edmonston TB, Herzog TJ, Rader JS, Gibb RK, Whelan AJ, Goodfellow PJ) Am J Hum Genet 2004 Jun;74(6):1262-9 58 Citations |
| 1 | A novel point mutation of the RET protooncogene involving the second intracellular tyrosine kinase domain in a family with medullary thyroid carcinoma. (Jimenez C, Dang GT, Schultz PN, El-Naggar A, Shapiro S, Barnes EA, Evans DB, Vassilopoulou-Sellin R, Gagel RF, Cote GJ, Hoff AO) J Clin Endocrinol Metab 2004 Jul;89(7):3521-6 39 Citations |
| 1 | A novel mutation in the PITX2 gene in a family with Axenfeld-Rieger syndrome. (Brooks BP, Moroi SE, Downs CA, Wiltse S, Othman MI, Semina EV, Richards JE) Ophthalmic Genet 2004 Mar;25(1):57-62 26 Citations |
| 1 | Biochemical analysis of Angelman syndrome-associated mutations in the E3 ubiquitin ligase E6-associated protein. (Cooper EM, Hudson AW, Amos J, Wagstaff J, Howley PM) J Biol Chem 2004 Sep 24;279(39):41208-17 83 Citations |
| 1 | Pheochromocytoma and medullary thyroid carcinoma: a new genotype-phenotype correlation of the RET protooncogene 891 germline mutation. (Jimenez C, Habra MA, Huang SC, El-Naggar A, Shapiro SE, Evans DB, Cote G, Gagel RF) J Clin Endocrinol Metab 2004 Aug;89(8):4142-5 37 Citations |
| 1 | Phenotypic variability associated with Arg26Gln mutation in caveolin3. (Fee DB, So YT, Barraza C, Figueroa KP, Pulst SM) Muscle Nerve 2004 Sep;30(3):375-8 30 Citations |
| 1 | Mutations in PITX2 may contribute to cases of omphalocele and VATER-like syndromes. (Katz LA, Schultz RE, Semina EV, Torfs CP, Krahn KN, Murray JC) Am J Med Genet A 2004 Oct 15;130A(3):277-83 20 Citations |
| 1 | CARD15 gene mutations and risk for early surgery in pediatric-onset Crohn's disease. (Kugathasan S, Collins N, Maresso K, Hoffmann RG, Stephens M, Werlin SL, Rudolph C, Broeckel U) Clin Gastroenterol Hepatol 2004 Nov;2(11):1003-9 86 Citations |
| 1 | VSX1 mutation and corneal dystrophies [4] (multiple letters) (Aldave AJ, Mintz-Hittner H, Semina E) Ophthalmology January 2005;112(1):170-171 1 Citation |
| 1 | Detection and frequency estimation of rare variants in pools of genomic DNA from large populations using mutational spectrometry. (Li-Sucholeiki XC, Tomita-Mitchell A, Arnold K, Glassner BJ, Thompson T, Murthy JV, Berk L, Lange C, Leong-Morgenthaler PM, MacDougall D, Munro J, Cannon D, Mistry T, Miller A, Deka C, Karger B, Gillespie KM, Ekstrøm PO, Todd JA, Thilly WG) Mutat Res 2005 Mar 01;570(2):267-80 15 Citations |
| 1 | Homeodomain revisited: a lesson from disease-causing mutations. (Chi YI) Hum Genet 2005 May;116(6):433-44 62 Citations |
| 1 | Molecular characterization of histidinemia: identification of four missense mutations in the histidase gene. (Kawai Y, Moriyama A, Asai K, Coleman-Campbell CM, Sumi S, Morishita H, Suchi M) Hum Genet 2005 Apr;116(5):340-6 21 Citations |
| 1 | Analysis of the Zebrafish perplexed mutation reveals tissue-specific roles for de novo pyrimidine synthesis during development. (Willer GB, Lee VM, Gregg RG, Link BA) Genetics 2005 Aug;170(4):1827-37 39 Citations |
| 1 | Scanning the beta-globin gene for mutations in large populations by denaturing capillary and gel electrophoresis. (Li-Sucholeiki XC, Hu G, Perls T, Tomita-Mitchell A, Thilly WG) Electrophoresis 2005 Jun;26(13):2531-8 12 Citations |
| 2 | Comparative phenotypic and CARD15 mutational analysis among African American, Hispanic, and White children with Crohn's disease. (Kugathasan S, Loizides A, Babusukumar U, McGuire E, Wang T, Hooper P, Nebel J, Kofman G, Noel R, Broeckel U, Tolia V) Inflamm Bowel Dis 2005 Jul;11(7):631-8 70 Citations |
| 1 | Abundant neuritic inclusions and microvacuolar changes in a case of diffuse Lewy body disease with the A53T mutation in the alpha-synuclein gene. (Yamaguchi K, Cochran EJ, Murrell JR, Polymeropoulos MH, Shannon KM, Crowther RA, Goedert M, Ghetti B) Acta Neuropathol 2005 Sep;110(3):298-305 55 Citations |
| 1 | The missense mutation in Abcg5 gene in spontaneously hypertensive rats (SHR) segregates with phytosterolemia but not hypertension. (Chen J, Batta A, Zheng S, Fitzgibbon WR, Ullian ME, Yu H, Tso P, Salen G, Patel SB) BMC Genet 2005 Jul 18;6:40 12 Citations |
| 1 | Mutation analysis of cathepsin C gene in a Chinese patient with pre-pubertal periodontitis. (Yang Y, Bai XW, Song SJ, Ge LH, Cao CF) Chin Med J (Engl) 2005 Jul 05;118(13):1109-12 1 Citation |
| 1 | Design of an automated multicapillary instrument with fraction collection for DNA mutation discovery by constant denaturant capillary electrophoresis (CDCE). (Li Q, Deka C, Glassner BJ, Arnold K, Li-Sucholeiki XC, Tomita-Mitchell A, Thilly WG, Karger BL) J Sep Sci 2005 Aug;28(12):1375-89 12 Citations |
| 1 | Erratum: Molecular characterization of histidinemia: Identification of four missense mutations in the histidase gene (Human Genetics (2005) vol. 116 (340-346) 10.1007/s00439-004-1232-5) (Kawai Y, Moriyama A, Asai K, Coleman-Campbell CM, Sumi S, Morishita H, Suchi M) Human Genetics December 2005;118(3-4):531-532 |
| 2 | Genetic mutations in von Willebrand disease identified by DHPLC and DNA sequence analysis. (Kakela JK, Friedman KD, Haberichter SL, Buchholz NP, Christopherson PA, Kroner PA, Gill JC, Montgomery RR, Bellissimo DB) Mol Genet Metab 2006 Mar;87(3):262-71 13 Citations |
| 1 | Novel leptin receptor mutation in NOD/LtJ mice suppresses type 1 diabetes progression: II. Immunologic analysis. (Lee CH, Chen YG, Chen J, Reifsnyder PC, Serreze DV, Clare-Salzler M, Rodriguez M, Wasserfall C, Atkinson MA, Leiter EH) Diabetes 2006 Jan;55(1):171-8 29 Citations |
| 1 | An unusual class of PITX2 mutations in Axenfeld-Rieger syndrome. (Saadi I, Toro R, Kuburas A, Semina E, Murray JC, Russo AF) Birth Defects Res A Clin Mol Teratol 2006 Mar;76(3):175-81 25 Citations |
| 1 | Mutations in voltage-gated potassium channel KCNC3 cause degenerative and developmental central nervous system phenotypes. (Waters MF, Minassian NA, Stevanin G, Figueroa KP, Bannister JP, Nolte D, Mock AF, Evidente VG, Fee DB, Müller U, Dürr A, Brice A, Papazian DM, Pulst SM) Nat Genet 2006 Apr;38(4):447-51 254 Citations |
| 1 | Biotin-responsive basal ganglia disease-linked mutations inhibit thiamine transport via hTHTR2: biotin is not a substrate for hTHTR2. (Subramanian VS, Marchant JS, Said HM) Am J Physiol Cell Physiol 2006 Nov;291(5):C851-9 67 Citations |
| 1 | Low frequency of telomerase RNA mutations among children with aplastic anemia or myelodysplastic syndrome. (Field JJ, Mason PJ, An P, Kasai Y, McLellan M, Jaeger S, Barnes YJ, King AA, Bessler M, Wilson DB) J Pediatr Hematol Oncol 2006 Jul;28(7):450-3 25 Citations |
| 1 | The fibrinogen Aalpha R16C mutation results in fibrinolytic resistance. (Flood VH, Al-Mondhiry HA, Farrell DH) Br J Haematol 2006 Jul;134(2):220-6 24 Citations |
| 1 | MLH3 mutation in endometrial cancer. (Taylor NP, Powell MA, Gibb RK, Rader JS, Huettner PC, Thibodeau SN, Mutch DG, Goodfellow PJ) Cancer Res 2006 Aug 01;66(15):7502-8 22 Citations |
| 1 | The A431E mutation in PSEN1 causing familial Alzheimer's disease originating in Jalisco State, Mexico: an additional fifteen families. (Murrell J, Ghetti B, Cochran E, Macias-Islas MA, Medina L, Varpetian A, Cummings JL, Mendez MF, Kawas C, Chui H, Ringman JM) Neurogenetics 2006 Nov;7(4):277-9 55 Citations |
| 3 | Tumoral calcinosis presenting with eyelid calcifications due to novel missense mutations in the glycosyl transferase domain of the GALNT3 gene. (Ichikawa S, Imel EA, Sorenson AH, Severe R, Knudson P, Harris GJ, Shaker JL, Econs MJ) J Clin Endocrinol Metab 2006 Nov;91(11):4472-5 72 Citations |
| 1 | Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: two allelic ectodermal dysplasias caused by dominant mutations in KRT14. (Lugassy J, Itin P, Ishida-Yamamoto A, Holland K, Huson S, Geiger D, Hennies HC, Indelman M, Bercovich D, Uitto J, Bergman R, McGrath JA, Richard G, Sprecher E) Am J Hum Genet 2006 Oct;79(4):724-30 100 Citations |
| 2 | Mutations in laminin alpha 1 result in complex, lens-independent ocular phenotypes in zebrafish. (Semina EV, Bosenko DV, Zinkevich NC, Soules KA, Hyde DR, Vihtelic TS, Willer GB, Gregg RG, Link BA) Dev Biol 2006 Nov 01;299(1):63-77 59 Citations |
| 2 | Gene mutations and genomic rearrangements in the mouse as a result of transposon mobilization from chromosomal concatemers. (Geurts AM, Collier LS, Geurts JL, Oseth LL, Bell ML, Mu D, Lucito R, Godbout SA, Green LE, Lowe SW, Hirsch BA, Leinwand LA, Largaespada DA) PLoS Genet 2006 Sep 29;2(9):e156 86 Citations |
| 1 | Mutations in LRRK2 other than G2019S are rare in a north American-based sample of familial Parkinson's disease. (Pankratz N, Pauciulo MW, Elsaesser VE, Marek DK, Halter CA, Rudolph A, Shults CW, Foroud T, Nichols WC, Parkinson Study Group-PROGENI Investigators) Mov Disord 2006 Dec;21(12):2257-60 27 Citations |
| 1 | [Novel mutations of cathepsin C gene in two Chinese patients with Papillon-Lefèvre syndrome]. (Yang Y, Bai XW, Liu HS, Cao CF, Ge LH) Zhonghua Kou Qiang Yi Xue Za Zhi 2006 Oct;41(10):602-5 3 Citations |
| 1 | K-ras mutation and p16 and preproenkephalin promoter hypermethylation in plasma DNA of pancreatic cancer patients: in relation to cigarette smoking. (Jiao L, Zhu J, Hassan MM, Evans DB, Abbruzzese JL, Li D) Pancreas 2007 Jan;34(1):55-62 74 Citations |
| 1 | R1514Q substitution in Lrrk2 is not a pathogenic Parkinson's disease mutation (Nichols WC, Marek DK, Pauciulo MW, Pankratz N, Halter CA, Rudolph A, Shults CW, Wojcieszek J, Foroud T, Shults C, Marshall F, Oakes D, Rudolph A, Shinaman A, Marder K, Conneally PM, Halter C, Lyons K, Siemers E, Factor S, Higgins D, Evans S, Shill H, Stacy M, Danielson J, Marlor L, Williamson K, Jankovic J, Hunter C, Simon D, Ryan P, Scollins L, Saunders-Pullman R, Boyar K, Costan-Toth C, Ohmann E, Sudarsky L, Joubert C, Friedman J, Chou K, Fernandez H, Lannon M, Galvez-Jimenez N, Podichetty A, Lewitt P, DeAngelis M, O'Brien C, Seeberger L, Dingmann C, Judd D, Marder K, Fraser J, Harris J, Bertoni J, Peterson C, Chouinard S, Panisset M, Hall J, Poiffaut H, Calabrese V, Roberge P, Wojcieszek J, Belden J, Halter C, Jennings D, Marek K, Mendick S, Reich S, Dunlop B, Jog M, Horn C, Rao J, Cook M, Uitti R, Turk M, Ajax T, Mannetter J, Panisset M, Hall J, Sethi K, Carpenter J, Ligon K, Narayan S, Woodward L, Blindauer K, Petit J, Elmer L, Aiken E, Davis K, Schell C, Wilson S, Velickovic M, Koller W, Phipps S, Feigin A, Gordon M, Hamann J, Licari E, Marotta-Kollarus M, Shannon B) Movement Disorders 15 January 2007;22(2):254-256 7 Citations |
| 1 | Targeting and intracellular trafficking of clinically relevant hTHTR1 mutations in human cell lines. (Subramanian VS, Marchant JS, Said HM) Clin Sci (Lond) 2007 Jul;113(2):93-102 14 Citations |
| 1 | The disarrayed mutation results in cell cycle and neurogenesis defects during retinal development in zebrafish. (Baye LM, Link BA) BMC Dev Biol 2007 Apr 05;7:28 19 Citations |
| 1 | Spectrum of heart disease associated with murine and human GATA4 mutation. (Rajagopal SK, Ma Q, Obler D, Shen J, Manichaikul A, Tomita-Mitchell A, Boardman K, Briggs C, Garg V, Srivastava D, Goldmuntz E, Broman KW, Benson DW, Smoot LB, Pu WT) J Mol Cell Cardiol 2007 Dec;43(6):677-85 207 Citations |
| 1 | Novel mutations of cathepsin C gene in two Chinese patients with Papillon-Lefèvre syndrome. (Yang Y, Bai X, Liu H, Li L, Cao C, Ge L) J Dent Res 2007 Aug;86(8):735-8 8 Citations |
| 1 | Human alpha B-crystallin mutation causes oxido-reductive stress and protein aggregation cardiomyopathy in mice. (Rajasekaran NS, Connell P, Christians ES, Yan LJ, Taylor RP, Orosz A, Zhang XQ, Stevenson TJ, Peshock RM, Leopold JA, Barry WH, Loscalzo J, Odelberg SJ, Benjamin IJ) Cell 2007 Aug 10;130(3):427-39 384 Citations |
| 1 | Functional analysis of human mutations in homeodomain transcription factor PITX3. (Sakazume S, Sorokina E, Iwamoto Y, Semina EV) BMC Mol Biol 2007 Sep 21;8:84 31 Citations |
| 1 | A transgenic model to study the pathogenesis of somatic mtDNA mutation accumulation in beta-cells. (Bensch KG, Degraaf W, Hansen PA, Zassenhaus HP, Corbett JA) Diabetes Obes Metab 2007 Nov;9 Suppl 2:74-80 11 Citations |
| 1 | Structural basis of disease-causing mutations in hepatocyte nuclear factor 1beta. (Lu P, Rha GB, Chi YI) Biochemistry 2007 Oct 30;46(43):12071-80 32 Citations |
| 1 | Complex inheritance pattern of dyskeratosis congenita in two families with 2 different mutations in the telomerase reverse transcriptase gene. (Du HY, Pumbo E, Manley P, Field JJ, Bayliss SJ, Wilson DB, Mason PJ, Bessler M) Blood 2008 Feb 01;111(3):1128-30 51 Citations |
| 1 | Prognostic interaction between thrombocytosis and JAK2 V617F mutation in the WHO subcategories of myelodysplastic/myeloproliferative disease-unclassifiable and refractory anemia with ringed sideroblasts and marked thrombocytosis. (Atallah E, Nussenzveig R, Yin CC, Bueso-Ramos C, Tam C, Manshouri T, Pierce S, Kantarjian H, Verstovsek S) Leukemia 2008 Jun;22(6):1295-8 26 Citations |
| 1 | Characterization of HIV type 1 reverse transcriptase mutations in infants infected by mothers who received peripartum nevirapine prophylaxis in Jos, Nigeria. (Ojesina AI, Mullins C, Imade G, Samuels J, Sankalé JL, Pam S, Sagay S, Idoko J, Kanki PJ) AIDS Res Hum Retroviruses 2007 Dec;23(12):1587-92 7 Citations |
| 1 | Mutations in the STAT5A gene are associated with embryonic survival and milk composition in cattle. (Khatib H, Monson RL, Schutzkus V, Kohl DM, Rosa GJ, Rutledge JJ) J Dairy Sci 2008 Feb;91(2):784-93 110 Citations |
| 1 | Fibrinogen Hershey IV: a novel dysfibrinogen with a gammaV411I mutation in the integrin alpha(IIb)beta(3) binding site. (Flood VH, Al-Mondhiry HA, Rein CM, Alexander KS, Lovely RS, Shackleton KM, David LL, Farrell DH) Thromb Haemost 2008 Jun;99(6):1008-12 7 Citations |
| 1 | Infertility and abnormal cervical mucus in two sisters who are compound heterozygotes for the cystic fibrosis (CF) DeltaF508 and R117H/7T mutations. (Schoyer KD, Gilbert F, Rosenwaks Z) Fertil Steril 2008 Oct;90(4):1201.e19-22 15 Citations |
| 2 | "ROS-generating mitochondrial DNA mutations can regulate tumor cell metastasis"--a critical commentary. (Zielonka J, Kalyanaraman B) Free Radic Biol Med 2008 Nov 01;45(9):1217-9 50 Citations |
| 1 | Mutation analysis of B3GALTL in Peters Plus syndrome. (Reis LM, Tyler RC, Abdul-Rahman O, Trapane P, Wallerstein R, Broome D, Hoffman J, Khan A, Paradiso C, Ron N, Bergner A, Semina EV) Am J Med Genet A 2008 Oct 15;146A(20):2603-10 47 Citations |
| 1 | Mutation of H63 and its catalytic affect on the methionine aminopeptidase from Escherichia coli. (Mitra S, Bennett B, Holz RC) Biochim Biophys Acta 2009 Jan;1794(1):137-43 |
| 1 | Selective mtDNA mutation accumulation results in beta-cell apoptosis and diabetes development. (Bensch KG, Mott JL, Chang SW, Hansen PA, Moxley MA, Chambers KT, de Graaf W, Zassenhaus HP, Corbett JA) Am J Physiol Endocrinol Metab 2009 Apr;296(4):E672-80 21 Citations |
| 2 | Investigation of somatic NKX2-5 mutations in congenital heart disease. (Draus JM Jr, Hauck MA, Goetsch M, Austin EH 3rd, Tomita-Mitchell A, Mitchell ME) J Med Genet 2009 Feb;46(2):115-22 58 Citations |
| 1 | Prediction of BRCA Mutations Using the BRCAPRO Model in Clinic-Based African American, Hispanic, and Other Minority Families in the United States. (Huo D, Senie RT, Daly M, Buys SS, Cummings S, Ogutha J, Hope K, Olopade OI) J Clin Oncol 2009 Mar 10;27(8):1184-90 38 Citations |
| 1 | Extremes of clinical and enzymatic phenotypes in children with hyperinsulinism caused by glucokinase activating mutations. (Sayed S, Langdon DR, Odili S, Chen P, Buettger C, Schiffman AB, Suchi M, Taub R, Grimsby J, Matschinsky FM, Stanley CA) Diabetes 2009 Jun;58(6):1419-27 95 Citations |
| 1 | Methylation not a frequent "second hit" in tumors with germline BRCA mutations. (Dworkin AM, Spearman AD, Tseng SY, Sweet K, Toland AE) Fam Cancer 2009;8(4):339-46 53 Citations |
| 1 | ATR mutation in endometrioid endometrial cancer is associated with poor clinical outcomes. (Zighelboim I, Schmidt AP, Gao F, Thaker PH, Powell MA, Rader JS, Gibb RK, Mutch DG, Goodfellow PJ) J Clin Oncol 2009 Jul 01;27(19):3091-6 54 Citations |
| 1 | S156C mutation in tissue inhibitor of metalloproteinases-3 induces increased angiogenesis. (Qi JH, Dai G, Luthert P, Chaurasia S, Hollyfield J, Weber BH, Stöhr H, Anand-Apte B) J Biol Chem 2009 Jul 24;284(30):19927-36 40 Citations |
| 1 | DICER1 mutations in familial pleuropulmonary blastoma. (Hill DA, Ivanovich J, Priest JR, Gurnett CA, Dehner LP, Desruisseau D, Jarzembowski JA, Wikenheiser-Brokamp KA, Suarez BK, Whelan AJ, Williams G, Bracamontes D, Messinger Y, Goodfellow PJ) Science 2009 Aug 21;325(5943):965 556 Citations |
| 1 | Novel LC8 mutations have disparate effects on the assembly and stability of flagellar complexes. (Yang P, Yang C, Wirschell M, Davis S) J Biol Chem 2009 Nov 06;284(45):31412-21 18 Citations |
| 1 | Disease-causing mutations in the cystic fibrosis transmembrane conductance regulator determine the functional responses of alveolar macrophages. (Deriy LV, Gomez EA, Zhang G, Beacham DW, Hopson JA, Gallan AJ, Shevchenko PD, Bindokas VP, Nelson DJ) J Biol Chem 2009 Dec 18;284(51):35926-38 109 Citations |
| 1 | Mutations in LTBP4 cause a syndrome of impaired pulmonary, gastrointestinal, genitourinary, musculoskeletal, and dermal development. (Urban Z, Hucthagowder V, Schürmann N, Todorovic V, Zilberberg L, Choi J, Sens C, Brown CW, Clark RD, Holland KE, Marble M, Sakai LY, Dabovic B, Rifkin DB, Davis EC) Am J Hum Genet 2009 Nov;85(5):593-605 119 Citations |
| 1 | Identification and characterization of a novel ABCA3 mutation. (Park SK, Amos L, Rao A, Quasney MW, Matsumura Y, Inagaki N, Dahmer MK) Physiol Genomics 2010 Jan 08;40(2):94-9 17 Citations |
| 1 | Novel SOX2 mutations and genotype-phenotype correlation in anophthalmia and microphthalmia. (Schneider A, Bardakjian T, Reis LM, Tyler RC, Semina EV) Am J Med Genet A 2009 Dec;149A(12):2706-15 92 Citations |
| 1 | Cone photoreceptor mosaic disruption associated with Cys203Arg mutation in the M-cone opsin. (Carroll J, Baraas RC, Wagner-Schuman M, Rha J, Siebe CA, Sloan C, Tait DM, Thompson S, Morgan JI, Neitz J, Williams DR, Foster DH, Neitz M) Proc Natl Acad Sci U S A 2009 Dec 08;106(49):20948-53 63 Citations |
| 1 | Mutations of tropomyosin 3 (TPM3) are common and associated with type 1 myofiber hypotrophy in congenital fiber type disproportion. (Lawlor MW, Dechene ET, Roumm E, Geggel AS, Moghadaszadeh B, Beggs AH) Hum Mutat 2010 Feb;31(2):176-83 71 Citations |
| 2 | Differential effects of leptin receptor mutation on male and female BBDR Gimap5-/Gimap5- spontaneously diabetic rats. (Moralejo DH, Hansen CT, Treuting P, Hessner MJ, Fuller JM, Van Yserloo B, Jensen R, Osborne W, Kwitek AE, Lernmark A) Physiol Genomics 2010 Mar 03;41(1):9-20 8 Citations |
| 1 | The waved with open eyelids (woe) locus is a hypomorphic mouse mutation in Adam17. (Hassemer EL, Le Gall SM, Liegel R, McNally M, Chang B, Zeiss CJ, Dubielzig RD, Horiuchi K, Kimura T, Okada Y, Blobel CP, Sidjanin DJ) Genetics 2010 May;185(1):245-55 39 Citations |
| 1 | Epidermal growth factor receptor mutation and diverse tumors: case report and concise literature review. (Chintala L, Kurzrock R) Mol Oncol 2010 Aug;4(4):306-8 17 Citations |
| 1 | Factor V Leiden mutation enhances fibrin formation and dissolution in vivo in a human endotoxemia model. (Elmas E, Suvajac N, Jilma B, Weiler H, Borggrefe M, Dempfle CE) Blood 2010 Aug 05;116(5):801-5 9 Citations |
| 1 | Recurrent deep vein thrombosis and pulmonary embolism in a young man with Klinefelter's syndrome and heterozygous mutation of MTHFR-677C>T and 1298A>C. (Angel JR, Parker S, Sells RE, Atallah E) Blood Coagul Fibrinolysis 2010 Jun;21(4):372-5 11 Citations |
| 1 | Examination of SOX2 in variable ocular conditions identifies a recurrent deletion in microphthalmia and lack of mutations in other phenotypes. (Reis LM, Tyler RC, Schneider A, Bardakjian T, Semina EV) Mol Vis 2010 Apr 28;16:768-73 20 Citations |
| 2 | A single mutation promotes amyloidogenicity through a highly promiscuous dimer interface. (Peterson FC, Baden EM, Owen BA, Volkman BF, Ramirez-Alvarado M) Structure 2010 May 12;18(5):563-70 36 Citations |
| 2 | OTX2 microphthalmia syndrome: four novel mutations and delineation of a phenotype. (Schilter KF, Schneider A, Bardakjian T, Soucy JF, Tyler RC, Reis LM, Semina EV) Clin Genet 2011 Feb;79(2):158-68 83 Citations |
| 1 | An epilepsy/dyskinesia-associated mutation enhances BK channel activation by potentiating Ca2+ sensing. (Yang J, Krishnamoorthy G, Saxena A, Zhang G, Shi J, Yang H, Delaloye K, Sept D, Cui J) Neuron 2010 Jun 24;66(6):871-83 91 Citations |
| 1 | Cutting edge: mutation of Francisella tularensis mviN leads to increased macrophage absent in melanoma 2 inflammasome activation and a loss of virulence. (Ulland TK, Buchan BW, Ketterer MR, Fernandes-Alnemri T, Meyerholz DK, Apicella MA, Alnemri ES, Jones BD, Nauseef WM, Sutterwala FS) J Immunol 2010 Sep 01;185(5):2670-4 67 Citations |
| 1 | Identification of dominant FOXE3 and PAX6 mutations in patients with congenital cataract and aniridia. (Brémond-Gignac D, Bitoun P, Reis LM, Copin H, Murray JC, Semina EV) Mol Vis 2010 Aug 22;16:1705-11 46 Citations |
| 1 | Color-deficient cone mosaics associated with Xq28 opsin mutations: a stop codon versus gene deletions. (Wagner-Schuman M, Neitz J, Rha J, Williams DR, Neitz M, Carroll J) Vision Res 2010 Nov 23;50(23):2396-402 24 Citations |
| 1 | C/EBPα regulated microRNA-34a targets E2F3 during granulopoiesis and is down-regulated in AML with CEBPA mutations. (Pulikkan JA, Peramangalam PS, Dengler V, Ho PA, Preudhomme C, Meshinchi S, Christopeit M, Nibourel O, Müller-Tidow C, Bohlander SK, Tenen DG, Behre G) Blood 2010 Dec 16;116(25):5638-49 122 Citations |
| 1 | Human phagocyte defect caused by a Rac2 mutation detected by means of neonatal screening for T-cell lymphopenia. (Accetta D, Syverson G, Bonacci B, Reddy S, Bengtson C, Surfus J, Harbeck R, Huttenlocher A, Grossman W, Routes J, Verbsky J) J Allergy Clin Immunol 2011 Feb;127(2):535-538.e1-2 75 Citations |
| 1 | PIK3CA mutations in patients with advanced cancers treated with PI3K/AKT/mTOR axis inhibitors. (Janku F, Tsimberidou AM, Garrido-Laguna I, Wang X, Luthra R, Hong DS, Naing A, Falchook GS, Moroney JW, Piha-Paul SA, Wheler JJ, Moulder SL, Fu S, Kurzrock R) Mol Cancer Ther 2011 Mar;10(3):558-65 301 Citations |
| 1 | Probing the effect of MODY mutations near the co-activator-binding pocket of HNF4α. (Rha GB, Wu G, Chi YI) Biosci Rep 2011 Oct;31(5):411-9 5 Citations |
| 1 | Identification of novel mutations in the α-galactosidase A gene in patients with Fabry disease: pitfalls of mutation analyses in patients with low α-galactosidase A activity. (Yoshimitsu M, Higuchi K, Miyata M, Devine S, Mattman A, Sirrs S, Medin JA, Tei C, Takenaka T) J Cardiol 2011 May;57(3):345-53 13 Citations |
| 3 | BMP4 loss-of-function mutations in developmental eye disorders including SHORT syndrome. (Reis LM, Tyler RC, Schilter KF, Abdul-Rahman O, Innis JW, Kozel BA, Schneider AS, Bardakjian TM, Lose EJ, Martin DM, Broeckel U, Semina EV) Hum Genet 2011 Oct;130(4):495-504 91 Citations |
| 2 | Effects of the L511P and D512G mutations on the Escherichia coli ABC transporter MsbA. (Schultz KM, Merten JA, Klug CS) Biochemistry 2011 Apr 05;50(13):2594-602 16 Citations |
| 3 | Mutations in zebrafish lrp2 result in adult-onset ocular pathogenesis that models myopia and other risk factors for glaucoma. (Veth KN, Willer JR, Collery RF, Gray MP, Willer GB, Wagner DS, Mullins MC, Udvadia AJ, Smith RS, John SW, Gregg RG, Link BA) PLoS Genet 2011 Feb;7(2):e1001310 82 Citations |
| 1 | Characterization of the L683P mutation of SLC26A9 in Xenopus oocytes. (Avella M, Borgese F, Ehrenfeld J) Biochim Biophys Acta 2011 Jun;1810(6):577-83 7 Citations |
| 1 | Genetic testing for BRCA mutations can save lives. (Yen TW) Arch Surg 2011 Apr;146(4):479-80 3 Citations |
| 2 | Disruption of a novel Kruppel-like transcription factor p300-regulated pathway for insulin biosynthesis revealed by studies of the c.-331 INS mutation found in neonatal diabetes mellitus. (Bonnefond A, Lomberk G, Buttar N, Busiah K, Vaillant E, Lobbens S, Yengo L, Dechaume A, Mignot B, Simon A, Scharfmann R, Neve B, Tanyolaç S, Hodoglugil U, Pattou F, Cavé H, Iovanna J, Stein R, Polak M, Vaxillaire M, Froguel P, Urrutia R) J Biol Chem 2011 Aug 12;286(32):28414-24 68 Citations |
| 1 | Recurrent partial rhombencephalosynapsis and holoprosencephaly in siblings with a mutation of ZIC2. (Ramocki MB, Scaglia F, Stankiewicz P, Belmont JW, Jones JY, Clark GD) Am J Med Genet A 2011 Jul;155A(7):1574-80 18 Citations |
| 1 | Bexarotene plus erlotinib suppress lung carcinogenesis independent of KRAS mutations in two clinical trials and transgenic models. (Dragnev KH, Ma T, Cyrus J, Galimberti F, Memoli V, Busch AM, Tsongalis GJ, Seltzer M, Johnstone D, Erkmen CP, Nugent W, Rigas JR, Liu X, Freemantle SJ, Kurie JM, Waxman S, Dmitrovsky E) Cancer Prev Res (Phila) 2011 Jun;4(6):818-28 52 Citations |
| 1 | Next-generation sequencing facilitates the diagnosis in a child with twinkle mutations causing cholestatic liver failure. (Goh V, Helbling D, Biank V, Jarzembowski J, Dimmock D) J Pediatr Gastroenterol Nutr 2012 Feb;54(2):291-4 35 Citations |
| 1 | Novel mutations in NEB cause abnormal nebulin expression and markedly impaired muscle force generation in severe nemaline myopathy. (Lawlor MW, Ottenheijm CA, Lehtokari VL, Cho K, Pelin K, Wallgren-Pettersson C, Granzier H, Beggs AH) Skelet Muscle 2011 Jun 20;1(1):23 51 Citations |
| 1 | Mutations in SERPINF1 cause osteogenesis imperfecta type VI. (Homan EP, Rauch F, Grafe I, Lietman C, Doll JA, Dawson B, Bertin T, Napierala D, Morello R, Gibbs R, White L, Miki R, Cohn DH, Crawford S, Travers R, Glorieux FH, Lee B) J Bone Miner Res 2011 Dec;26(12):2798-803 150 Citations |
| 1 | PIK3CA mutations frequently coexist with RAS and BRAF mutations in patients with advanced cancers. (Janku F, Lee JJ, Tsimberidou AM, Hong DS, Naing A, Falchook GS, Fu S, Luthra R, Garrido-Laguna I, Kurzrock R) PLoS One 2011;6(7):e22769 164 Citations |
| 1 | A novel mutation in transforming growth factor-beta induced protein (TGFβIp) reveals secondary structure perturbation in lattice corneal dystrophy. (Lakshminarayanan R, Vithana EN, Chai SM, Chaurasia SS, Saraswathi P, Venkatraman A, Rojare C, Venkataraman D, Tan D, Aung T, Beuerman RW, Mehta JS) Br J Ophthalmol 2011 Oct;95(10):1457-62 22 Citations |
| 1 | VSX2 mutations in autosomal recessive microphthalmia. (Reis LM, Khan A, Kariminejad A, Ebadi F, Tyler RC, Semina EV) Mol Vis 2011;17:2527-32 27 Citations |
| 1 | Conversion of the enzyme guanylate kinase into a mitotic-spindle orienting protein by a single mutation that inhibits GMP-induced closing. (Johnston CA, Whitney DS, Volkman BF, Doe CQ, Prehoda KE) Proc Natl Acad Sci U S A 2011 Nov 01;108(44):E973-8 25 Citations |
| 1 | Cystic fibrosis mutations for p.F508del compound heterozygotes predict sweat chloride levels and pancreatic sufficiency. (Sebro R, Levy H, Schneck K, Dimmock D, Raby BA, Cannon CL, Broeckel U, Risch NJ) Clin Genet 2012 Dec;82(6):546-51 12 Citations |
| 1 | BRAF mutations in advanced cancers: clinical characteristics and outcomes. (El-Osta H, Falchook G, Tsimberidou A, Hong D, Naing A, Kim K, Wen S, Janku F, Kurzrock R) PLoS One 2011;6(10):e25806 80 Citations |
| 1 | Modeling the human MTM1 p.R69C mutation in murine Mtm1 results in exon 4 skipping and a less severe myotubular myopathy phenotype. (Pierson CR, Dulin-Smith AN, Durban AN, Marshall ML, Marshall JT, Snyder AD, Naiyer N, Gladman JT, Chandler DS, Lawlor MW, Buj-Bello A, Dowling JJ, Beggs AH) Hum Mol Genet 2012 Feb 15;21(4):811-25 47 Citations |
| 1 | Mutations in the phosphatidylinositol 3-kinase pathway: role in tumor progression and therapeutic implications in breast cancer. (Miller TW, Rexer BN, Garrett JT, Arteaga CL) Breast Cancer Res 2011;13(6):224 351 Citations |
| 2 | Potent and selective activation of abscisic acid receptors in vivo by mutational stabilization of their agonist-bound conformation. (Mosquna A, Peterson FC, Park SY, Lozano-Juste J, Volkman BF, Cutler SR) Proc Natl Acad Sci U S A 2011 Dec 20;108(51):20838-43 81 Citations |
| 1 | DICER1 mutations in embryonal rhabdomyosarcomas from children with and without familial PPB-tumor predisposition syndrome. (Doros L, Yang J, Dehner L, Rossi CT, Skiver K, Jarzembowski JA, Messinger Y, Schultz KA, Williams G, André N, Hill DA) Pediatr Blood Cancer 2012 Sep;59(3):558-60 136 Citations |
| 1 | Loss-of-function thrombospondin-1 mutations in familial pulmonary hypertension. (Maloney JP, Stearman RS, Bull TM, Calabrese DW, Tripp-Addison ML, Wick MJ, Broeckel U, Robbins IM, Wheeler LA, Cogan JD, Loyd JE) Am J Physiol Lung Cell Mol Physiol 2012 Mar 15;302(6):L541-54 39 Citations |
| 3 | VWF mutations and new sequence variations identified in healthy controls are more frequent in the African-American population. (Bellissimo DB, Christopherson PA, Flood VH, Gill JC, Friedman KD, Haberichter SL, Shapiro AD, Abshire TC, Leissinger C, Hoots WK, Lusher JM, Ragni MV, Montgomery RR) Blood 2012 Mar 01;119(9):2135-40 83 Citations |
| 1 | Erratam to novel SOX2 mutations and genotype-phenotype correlation in anophthalmia and microphthalmia (Schneider A, Bardakjian T, Reis LM, Tyler RC, Semina EV) American Journal of Medical Genetics, Part A January 2012;158 A(1):267 |
| 1 | PI3K/AKT/mTOR inhibitors in patients with breast and gynecologic malignancies harboring PIK3CA mutations. (Janku F, Wheler JJ, Westin SN, Moulder SL, Naing A, Tsimberidou AM, Fu S, Falchook GS, Hong DS, Garrido-Laguna I, Luthra R, Lee JJ, Lu KH, Kurzrock R) J Clin Oncol 2012 Mar 10;30(8):777-82 394 Citations |
| 1 | Mutations in the β subunit of RNA polymerase alter intrinsic cephalosporin resistance in Enterococci. (Kristich CJ, Little JL) Antimicrob Agents Chemother 2012 Apr;56(4):2022-7 27 Citations |
| 1 | Initiating breast cancer by PIK3CA mutation. (Miller TW) Breast Cancer Res 2012 Feb 07;14(1):301 17 Citations |
| 1 | Oncogene Mutation Survey in MPNST Cell Lines Enhances the Dominant Role of Hyperactive Ras in NF1 Associated Pro-Survival and Malignancy. (Sun D, Tainsky MA, Haddad R) Transl Oncogenomics 2012;5:1-7 11 Citations |
| 1 | Discovery and prioritization of somatic mutations in diffuse large B-cell lymphoma (DLBCL) by whole-exome sequencing. (Lohr JG, Stojanov P, Lawrence MS, Auclair D, Chapuy B, Sougnez C, Cruz-Gordillo P, Knoechel B, Asmann YW, Slager SL, Novak AJ, Dogan A, Ansell SM, Link BK, Zou L, Gould J, Saksena G, Stransky N, Rangel-Escareño C, Fernandez-Lopez JC, Hidalgo-Miranda A, Melendez-Zajgla J, Hernández-Lemus E, Schwarz-Cruz y Celis A, Imaz-Rosshandler I, Ojesina AI, Jung J, Pedamallu CS, Lander ES, Habermann TM, Cerhan JR, Shipp MA, Getz G, Golub TR) Proc Natl Acad Sci U S A 2012 Mar 06;109(10):3879-84 797 Citations |
| 1 | PIK3CA/PTEN mutations and Akt activation as markers of sensitivity to allosteric mTOR inhibitors. (Meric-Bernstam F, Akcakanat A, Chen H, Do KA, Sangai T, Adkins F, Gonzalez-Angulo AM, Rashid A, Crosby K, Dong M, Phan AT, Wolff RA, Gupta S, Mills GB, Yao J) Clin Cancer Res 2012 Mar 15;18(6):1777-89 186 Citations |
| 1 | Mitochondrial DNA deletion mutations in adult mouse cardiac side population cells. (Lushaj EB, Lozonschi L, Barnes M, Anstadt E, Kohmoto T) Mutat Res 2012 Jun 01;734(1-2):62-8 4 Citations |
| 3 | PITX2 and FOXC1 spectrum of mutations in ocular syndromes. (Reis LM, Tyler RC, Volkmann Kloss BA, Schilter KF, Levin AV, Lowry RB, Zwijnenburg PJ, Stroh E, Broeckel U, Murray JC, Semina EV) Eur J Hum Genet 2012 Dec;20(12):1224-33 113 Citations |
| 1 | Mitochondrial myopathy due to novel missense mutation in the cytochrome c oxidase 1 gene. (Massie R, Wang J, Chen LC, Zhang VW, Collins MP, Wong LJ, Milone M) J Neurol Sci 2012 Aug 15;319(1-2):158-63 9 Citations |
| 1 | Mucinous breast carcinomas lack PIK3CA and AKT1 mutations. (Kehr EL, Jorns JM, Ang D, Warrick A, Neff T, Degnin M, Lewis R, Beadling C, Corless CL, Troxell ML) Hum Pathol 2012 Dec;43(12):2207-12 35 Citations |
| 1 | Discordant cellular response to presurgical letrozole in bilateral synchronous ER+ breast cancers with a KRAS mutation or FGFR1 gene amplification. (Balko JM, Mayer IA, Sanders ME, Miller TW, Kuba MG, Meszoely IM, Wagle N, Garraway LA, Arteaga CL) Mol Cancer Ther 2012 Oct;11(10):2301-5 20 Citations |
| 1 | Functional characterization of newly-discovered mutations in human SR-BI. (Chadwick AC, Sahoo D) PLoS One 2012;7(9):e45660 46 Citations |
| 1 | PIK3CA mutation H1047R is associated with response to PI3K/AKT/mTOR signaling pathway inhibitors in early-phase clinical trials. (Janku F, Wheler JJ, Naing A, Falchook GS, Hong DS, Stepanek VM, Fu S, Piha-Paul SA, Lee JJ, Luthra R, Tsimberidou AM, Kurzrock R) Cancer Res 2013 Jan 01;73(1):276-84 244 Citations |
| 3 | The effect of cone opsin mutations on retinal structure and the integrity of the photoreceptor mosaic. (Carroll J, Dubra A, Gardner JC, Mizrahi-Meissonnier L, Cooper RF, Dubis AM, Nordgren R, Genead M, Connor TB Jr, Stepien KE, Sharon D, Hunt DM, Banin E, Hardcastle AJ, Moore AT, Williams DR, Fishman G, Neitz J, Neitz M, Michaelides M) Invest Ophthalmol Vis Sci 2012 Dec 05;53(13):8006-15 73 Citations |
| 1 | The genetic landscape of mutations in Burkitt lymphoma. (Love C, Sun Z, Jima D, Li G, Zhang J, Miles R, Richards KL, Dunphy CH, Choi WW, Srivastava G, Lugar PL, Rizzieri DA, Lagoo AS, Bernal-Mizrachi L, Mann KP, Flowers CR, Naresh KN, Evens AM, Chadburn A, Gordon LI, Czader MB, Gill JI, Hsi ED, Greenough A, Moffitt AB, McKinney M, Banerjee A, Grubor V, Levy S, Dunson DB, Dave SS) Nat Genet 2012 Dec;44(12):1321-5 464 Citations |
| 1 | PIK3CA mutations in advanced cancers: characteristics and outcomes. (Janku F, Wheler JJ, Naing A, Stepanek VM, Falchook GS, Fu S, Garrido-Laguna I, Tsimberidou AM, Piha-Paul SA, Moulder SL, Lee JJ, Luthra R, Hong DS, Kurzrock R) Oncotarget 2012 Dec;3(12):1566-75 78 Citations |
| 1 | Non-small-cell lung cancer with HER2 exon 20 mutation: regression with dual HER2 inhibition and anti-VEGF combination treatment. (Falchook GS, Janku F, Tsao AS, Bastida CC, Stewart DJ, Kurzrock R) J Thorac Oncol 2013 Feb;8(2):e19-20 24 Citations |
| 1 | X-linked cone dystrophy and colour vision deficiency arising from a missense mutation in a hybrid L/M cone opsin gene. (McClements M, Davies WI, Michaelides M, Carroll J, Rha J, Mollon JD, Neitz M, MacLaren RE, Moore AT, Hunt DM) Vision Res 2013 Mar 22;80:41-50 17 Citations |
| 1 | Genetic mutation of recombination activating gene 1 in Dahl salt-sensitive rats attenuates hypertension and renal damage. (Mattson DL, Lund H, Guo C, Rudemiller N, Geurts AM, Jacob H) Am J Physiol Regul Integr Comp Physiol 2013 Mar 15;304(6):R407-14 141 Citations |
| 1 | Bevacizumab-based treatment in colorectal cancer with a NRAS Q61K mutation. (Janku F, Wheler JJ, Hong DS, Kurzrock R) Target Oncol 2013 Sep;8(3):183-188 5 Citations |
| 1 | Novel mutations in the CLCN1 gene of myotonia congenita: 2 case reports. (Lakraj AA, Miller G, Vortmeyer AO, Khokhar B, Nowak RJ, DiCapua DB) Yale J Biol Med 2013 Mar;86(1):101-6 5 Citations |
| 1 | Clinical features of neurodegeneration with brain iron accumulation due to a C19orf12 gene mutation. (Goldman JG, Eichenseer SR, Berry-Kravis E, Zimnowodzki S, Gregory A, Hogarth P, Hayflick SJ) Mov Disord 2013 Sep;28(10):1462-3 11 Citations |
| 1 | Dominant gain-of-function STAT1 mutations in FOXP3 wild-type immune dysregulation-polyendocrinopathy-enteropathy-X-linked-like syndrome. (Uzel G, Sampaio EP, Lawrence MG, Hsu AP, Hackett M, Dorsey MJ, Noel RJ, Verbsky JW, Freeman AF, Janssen E, Bonilla FA, Pechacek J, Chandrasekaran P, Browne SK, Agharahimi A, Gharib AM, Mannurita SC, Yim JJ, Gambineri E, Torgerson T, Tran DQ, Milner JD, Holland SM) J Allergy Clin Immunol 2013 Jun;131(6):1611-23 248 Citations |
| 1 | Troponin activator augments muscle force in nemaline myopathy patients with nebulin mutations. (de Winter JM, Buck D, Hidalgo C, Jasper JR, Malik FI, Clarke NF, Stienen GJ, Lawlor MW, Beggs AH, Ottenheijm CA, Granzier H) J Med Genet 2013 Jun;50(6):383-92 42 Citations |
| 1 | Sturge-Weber syndrome and port-wine stains caused by somatic mutation in GNAQ. (Shirley MD, Tang H, Gallione CJ, Baugher JD, Frelin LP, Cohen B, North PE, Marchuk DA, Comi AM, Pevsner J) N Engl J Med 2013 May 23;368(21):1971-9 736 Citations |
| 1 | P53 mutations in advanced cancers: clinical characteristics, outcomes, and correlation between progression-free survival and bevacizumab-containing therapy. (Said R, Hong DS, Warneke CL, Lee JJ, Wheler JJ, Janku F, Naing A, Falchook GS, Fu S, Piha-Paul S, Tsimberidou AM, Kurzrock R) Oncotarget 2013 May;4(5):705-14 97 Citations |
| 1 | Ultra-rare mutation in long-range enhancer predisposes to thyroid carcinoma with high penetrance. (He H, Li W, Wu D, Nagy R, Liyanarachchi S, Akagi K, Jendrzejewski J, Jiao H, Hoag K, Wen B, Srinivas M, Waidyaratne G, Wang R, Wojcicka A, Lattimer IR, Stachlewska E, Czetwertynska M, Dlugosinska J, Gierlikowski W, Ploski R, Krawczyk M, Jazdzewski K, Kere J, Symer DE, Jin V, Wang Q, de la Chapelle A) PLoS One 2013;8(5):e61920 37 Citations |
| 1 | Tumor derived mutations of protein tyrosine phosphatase receptor type k affect its function and alter sensitivity to chemotherapeutics in glioma. (Agarwal S, Al-Keilani MS, Alqudah MA, Sibenaller ZA, Ryken TC, Assem M) PLoS One 2013;8(5):e62852 23 Citations |
| 1 | Rapid response to vemurafenib in a heavily pretreated patient with hairy cell leukemia and a BRAF mutation. (Munoz J, Schlette E, Kurzrock R) J Clin Oncol 2013 Jul 10;31(20):e351-2 57 Citations |
| 1 | Germline PTPRD mutations in Ewing sarcoma: biologic and clinical implications. (Jiang Y, Janku F, Subbiah V, Angelo LS, Naing A, Anderson PM, Herzog CE, Fu S, Benjamin RS, Kurzrock R) Oncotarget 2013 Jun;4(6):884-9 28 Citations |
| 1 | Novel B3GALTL mutations in classic Peters plus syndrome and lack of mutations in a large cohort of patients with similar phenotypes. (Weh E, Reis LM, Tyler RC, Bick D, Rhead WJ, Wallace S, McGregor TL, Dills SK, Chao MC, Murray JC, Semina EV) Clin Genet 2014 Aug;86(2):142-8 36 Citations |
| 1 | Identification of a KRAS mutation in a patient with non-small cell lung cancer treated with chemoradiotherapy and panitumumab. (Zaorsky NG, Sun Y, Wang Z, Palmer J, Fortina PM, Solomides C, Werner-Wasik M, Dicker AP, Axelrod R, Campling B, Evans N 3rd, Cowan S, Lu B) Cancer Biol Ther 2013 Oct 01;14(10):883-7 4 Citations |
| 1 | Telomere phenotypes in females with heterozygous mutations in the dyskeratosis congenita 1 (DKC1) gene. (Alder JK, Parry EM, Yegnasubramanian S, Wagner CL, Lieblich LM, Auerbach R, Auerbach AD, Wheelan SJ, Armanios M) Hum Mutat 2013 Nov;34(11):1481-5 79 Citations |
| 1 | Combining erlotinib and cetuximab is associated with activity in patients with non-small cell lung cancer (including squamous cell carcinomas) and wild-type EGFR or resistant mutations. (Wheler JJ, Tsimberidou AM, Falchook GS, Zinner RG, Hong DS, Fok JY, Fu S, Piha-Paul SA, Naing A, Kurzrock R) Mol Cancer Ther 2013 Oct;12(10):2167-75 33 Citations |
| 1 | Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy. (Ceyhan-Birsoy O, Agrawal PB, Hidalgo C, Schmitz-Abe K, DeChene ET, Swanson LC, Soemedi R, Vasli N, Iannaccone ST, Shieh PB, Shur N, Dennison JM, Lawlor MW, Laporte J, Markianos K, Fairbrother WG, Granzier H, Beggs AH) Neurology 2013 Oct 01;81(14):1205-14 161 Citations |
| 1 | Detection of cytomegalovirus drug resistance mutations by next-generation sequencing. (Sahoo MK, Lefterova MI, Yamamoto F, Waggoner JJ, Chou S, Holmes SP, Anderson MW, Pinsky BA) J Clin Microbiol 2013 Nov;51(11):3700-10 78 Citations |
| 1 | A case of 22q11.2 deletion syndrome with Peters anomaly, congenital glaucoma, and heterozygous mutation in CYP1B1. (Reis LM, Tyler RC, Zori R, Burgess J, Mueller J, Semina EV) Ophthalmic Genet 2015 Mar;36(1):92-4 4 Citations |
| 1 | A mutation in a ganglioside biosynthetic enzyme, ST3GAL5, results in salt & pepper syndrome, a neurocutaneous disorder with altered glycolipid and glycoprotein glycosylation. (Boccuto L, Aoki K, Flanagan-Steet H, Chen CF, Fan X, Bartel F, Petukh M, Pittman A, Saul R, Chaubey A, Alexov E, Tiemeyer M, Steet R, Schwartz CE) Hum Mol Genet 2014 Jan 15;23(2):418-33 129 Citations |
| 1 | Target-based therapeutic matching in early-phase clinical trials in patients with advanced colorectal cancer and PIK3CA mutations. (Ganesan P, Janku F, Naing A, Hong DS, Tsimberidou AM, Falchook GS, Wheler JJ, Piha-Paul SA, Fu S, Stepanek VM, Lee JJ, Luthra R, Overman MJ, Kopetz ES, Wolff RA, Kurzrock R) Mol Cancer Ther 2013 Dec;12(12):2857-63 39 Citations |
| 5 | A novel otoferlin splice-site mutation in siblings with auditory neuropathy spectrum disorder. (Runge CL, Erbe CB, McNally MT, Van Dusen C, Friedland DR, Kwitek AE, Kerschner JE) Audiol Neurootol 2013;18(6):374-82 17 Citations |
| 1 | Somatic mutation of CDKN1B in small intestine neuroendocrine tumors. (Francis JM, Kiezun A, Ramos AH, Serra S, Pedamallu CS, Qian ZR, Banck MS, Kanwar R, Kulkarni AA, Karpathakis A, Manzo V, Contractor T, Philips J, Nickerson E, Pho N, Hooshmand SM, Brais LK, Lawrence MS, Pugh T, McKenna A, Sivachenko A, Cibulskis K, Carter SL, Ojesina AI, Freeman S, Jones RT, Voet D, Saksena G, Auclair D, Onofrio R, Shefler E, Sougnez C, Grimsby J, Green L, Lennon N, Meyer T, Caplin M, Chung DC, Beutler AS, Ogino S, Thirlwell C, Shivdasani R, Asa SL, Harris CR, Getz G, Kulke M, Meyerson M) Nat Genet 2013 Dec;45(12):1483-6 241 Citations |
| 1 | Fhit deficiency-induced global genome instability promotes mutation and clonal expansion. (Miuma S, Saldivar JC, Karras JR, Waters CE, Paisie CA, Wang Y, Jin V, Sun J, Druck T, Zhang J, Huebner K) PLoS One 2013;8(11):e80730 27 Citations |
| 1 | Loss-of-function mutations in TBC1D20 cause cataracts and male infertility in blind sterile mice and Warburg micro syndrome in humans. (Liegel RP, Handley MT, Ronchetti A, Brown S, Langemeyer L, Linford A, Chang B, Morris-Rosendahl DJ, Carpanini S, Posmyk R, Harthill V, Sheridan E, Abdel-Salam GM, Terhal PA, Faravelli F, Accorsi P, Giordano L, Pinelli L, Hartmann B, Ebert AD, Barr FA, Aligianis IA, Sidjanin DJ) Am J Hum Genet 2013 Dec 05;93(6):1001-14 104 Citations |
| 1 | PHENOTYPIC VARIABILITY IN INDIVIDUALS WITH TYPE V OSTEOGENESIS IMPERFECTA WITH IDENTICAL IFITM5 MUTATIONS. (Fitzgerald J, Holden P, Wright H, Wilmot B, Hata A, Steiner RD, Basel D) J Rare Disord 2013 Dec;1(2):37-42 |
| 3 | Amelioration of salt-induced vascular dysfunction in mesenteric arteries of Dahl salt-sensitive rats by missense mutation of extracellular superoxide dismutase. (Beyer AM, Raffai G, Weinberg BD, Fredrich K, Rodgers MS, Geurts AM, Jacob HJ, Dwinell MR, Lombard JH) Am J Physiol Heart Circ Physiol 2014 Feb;306(3):H339-47 10 Citations |
| 1 | Adverse Drug Event-based Stratification of Tumor Mutations: A Case Study of Breast Cancer Patients Receiving Aromatase Inhibitors. (Wang C, Zimmermann MT, Prodduturi N, Chute CG, Jiang G) AMIA Annu Symp Proc 2014;2014:1160-9 2 Citations |
| 1 | Mutations in tetratricopeptide repeat domain 7A result in a severe form of very early onset inflammatory bowel disease. (Avitzur Y, Guo C, Mastropaolo LA, Bahrami E, Chen H, Zhao Z, Elkadri A, Dhillon S, Murchie R, Fattouh R, Huynh H, Walker JL, Wales PW, Cutz E, Kakuta Y, Dudley J, Kammermeier J, Powrie F, Shah N, Walz C, Nathrath M, Kotlarz D, Puchaka J, Krieger JR, Racek T, Kirchner T, Walters TD, Brumell JH, Griffiths AM, Rezaei N, Rashtian P, Najafi M, Monajemzadeh M, Pelsue S, McGovern DP, Uhlig HH, Schadt E, Klein C, Snapper SB, Muise AM) Gastroenterology 2014 Apr;146(4):1028-39 162 Citations |
| 1 | A gain-of-function voltage-gated sodium channel 1.8 mutation drives intense hyperexcitability of A- and C-fiber neurons. (Garrison SR, Weyer AD, Barabas ME, Beutler BA, Stucky CL) Pain 2014 May;155(5):896-905 30 Citations |
| 1 | Early-onset stroke and vasculopathy associated with mutations in ADA2. (Zhou Q, Yang D, Ombrello AK, Zavialov AV, Toro C, Zavialov AV, Stone DL, Chae JJ, Rosenzweig SD, Bishop K, Barron KS, Kuehn HS, Hoffmann P, Negro A, Tsai WL, Cowen EW, Pei W, Milner JD, Silvin C, Heller T, Chin DT, Patronas NJ, Barber JS, Lee CC, Wood GM, Ling A, Kelly SJ, Kleiner DE, Mullikin JC, Ganson NJ, Kong HH, Hambleton S, Candotti F, Quezado MM, Calvo KR, Alao H, Barham BK, Jones A, Meschia JF, Worrall BB, Kasner SE, Rich SS, Goldbach-Mansky R, Abinun M, Chalom E, Gotte AC, Punaro M, Pascual V, Verbsky JW, Torgerson TR, Singer NG, Gershon TR, Ozen S, Karadag O, Fleisher TA, Remmers EF, Burgess SM, Moir SL, Gadina M, Sood R, Hershfield MS, Boehm M, Kastner DL, Aksentijevich I) N Engl J Med 2014 Mar 06;370(10):911-20 599 Citations |
| 1 | Novel and recurrent PITX3 mutations in Belgian families with autosomal dominant congenital cataract and anterior segment dysgenesis have similar phenotypic and functional characteristics. (Verdin H, Sorokina EA, Meire F, Casteels I, de Ravel T, Semina EV, De Baere E) Orphanet J Rare Dis 2014 Feb 20;9:26 28 Citations |
| 1 | A novel radiation-induced p53 mutation is not implicated in radiation resistance via a dominant-negative effect. (Sun Y, Myers CJ, Dicker AP, Lu B) PLoS One 2014;9(2):e87492 3 Citations |
| 2 | Whole exome analysis identifies dominant COL4A1 mutations in patients with complex ocular phenotypes involving microphthalmia. (Deml B, Reis LM, Maheshwari M, Griffis C, Bick D, Semina EV) Clin Genet 2014 Nov;86(5):475-81 39 Citations |
| 1 | Clinical proteome informatics workbench detects pathogenic mutations in hereditary amyloidoses. (Dasari S, Theis JD, Vrana JA, Zenka RM, Zimmermann MT, Kocher JP, Highsmith WE Jr, Kurtin PJ, Dogan A) J Proteome Res 2014 May 02;13(5):2352-8 40 Citations |
| 1 | A thrombomodulin mutation that impairs active protein C generation is detrimental in severe pneumonia-derived gram-negative sepsis (melioidosis). (Kager LM, Wiersinga WJ, Roelofs JJ, de Boer OJ, Weiler H, van 't Veer C, van der Poll T) PLoS Negl Trop Dis 2014 Apr;8(4):e2819 9 Citations |
| 1 | Lung transplantation in telomerase mutation carriers with pulmonary fibrosis. (Silhan LL, Shah PD, Chambers DC, Snyder LD, Riise GC, Wagner CL, Hellström-Lindberg E, Orens JB, Mewton JF, Danoff SK, Arcasoy MO, Armanios M) Eur Respir J 2014 Jul;44(1):178-87 145 Citations |
| 1 | A novel CASR mutation associated with neonatal severe hyperparathyroidism transmitted as an autosomal recessive disorder. (Diaz-Thomas A, Cannon J, Iyer P, Al-Maawali A, Fazalullah M, Diamond F, Mueller OT, Root AW, Alyaarubi S) J Pediatr Endocrinol Metab 2014 Sep;27(9-10):851-6 6 Citations |
| 1 | TNNI3K mutation in familial syndrome of conduction system disease, atrial tachyarrhythmia and dilated cardiomyopathy. (Theis JL, Zimmermann MT, Larsen BT, Rybakova IN, Long PA, Evans JM, Middha S, de Andrade M, Moss RL, Wieben ED, Michels VV, Olson TM) Hum Mol Genet 2014 Nov 01;23(21):5793-804 41 Citations |
| 1 | Identification of a novel C-terminal extension mutation in EPHA2 in a family affected with congenital cataract. (Reis LM, Tyler RC, Semina EV) Mol Vis 2014;20:836-42 15 Citations |
| 1 | Loss-of-function mutations in APOC3, triglycerides, and coronary disease. (TG and HDL Working Group of the Exome Sequencing Project, National Heart, Lung, and Blood Institute, Crosby J, Peloso GM, Auer PL, Crosslin DR, Stitziel NO, Lange LA, Lu Y, Tang ZZ, Zhang H, Hindy G, Masca N, Stirrups K, Kanoni S, Do R, Jun G, Hu Y, Kang HM, Xue C, Goel A, Farrall M, Duga S, Merlini PA, Asselta R, Girelli D, Olivieri O, Martinelli N, Yin W, Reilly D, Speliotes E, Fox CS, Hveem K, Holmen OL, Nikpay M, Farlow DN, Assimes TL, Franceschini N, Robinson J, North KE, Martin LW, DePristo M, Gupta N, Escher SA, Jansson JH, Van Zuydam N, Palmer CN, Wareham N, Koch W, Meitinger T, Peters A, Lieb W, Erbel R, Konig IR, Kruppa J, Degenhardt F, Gottesman O, Bottinger EP, O'Donnell CJ, Psaty BM, Ballantyne CM, Abecasis G, Ordovas JM, Melander O, Watkins H, Orho-Melander M, Ardissino D, Loos RJ, McPherson R, Willer CJ, Erdmann J, Hall AS, Samani NJ, Deloukas P, Schunkert H, Wilson JG, Kooperberg C, Rich SS, Tracy RP, Lin DY, Altshuler D, Gabriel S, Nickerson DA, Jarvik GP, Cupples LA, Reiner AP, Boerwinkle E, Kathiresan S) N Engl J Med 2014 Jul 03;371(1):22-31 832 Citations |
| 1 | Polyglandular autoimmune syndrome type I - a novel AIRE mutation in a North American patient. (Huibregtse KE, Wolfgram P, Winer KK, Connor EL) J Pediatr Endocrinol Metab 2014 Nov;27(11-12):1257-60 10 Citations |
| 1 | Characteristics and survival of patients with advanced cancer and p53 mutations. (Said R, Ye Y, Hong DS, Janku F, Fu S, Naing A, Wheler JJ, Kurzrock R, Thomas C, Palmer GA, Hess KR, Aldape K, Tsimberidou AM) Oncotarget 2014 Jun 15;5(11):3871-9 11 Citations |
| 1 | BRAF V600E mutations in urine and plasma cell-free DNA from patients with Erdheim-Chester disease. (Janku F, Vibat CR, Kosco K, Holley VR, Cabrilo G, Meric-Bernstam F, Stepanek VM, Lin PP, Leppin L, Hassaine L, Poole JC, Kurzrock R, Erlander MG) Oncotarget 2014 Jun 15;5(11):3607-10 62 Citations |
| 1 | Mutations in LAMA1 cause cerebellar dysplasia and cysts with and without retinal dystrophy. (Aldinger KA, Mosca SJ, Tétreault M, Dempsey JC, Ishak GE, Hartley T, Phelps IG, Lamont RE, O'Day DR, Basel D, Gripp KW, Baker L, Stephan MJ, Bernier FP, Boycott KM, Majewski J, University of Washington Center for Mendelian Genomics, Care4Rare Canada, Parboosingh JS, Innes AM, Doherty D) Am J Hum Genet 2014 Aug 07;95(2):227-34 85 Citations |
| 1 | Novel secondary somatic mutations in Ewing's sarcoma and desmoplastic small round cell tumors. (Jiang Y, Subbiah V, Janku F, Ludwig JA, Naing A, Benjamin RS, Brown RE, Anderson P, Kurzrock R) PLoS One 2014;9(8):e93676 34 Citations |
| 1 | Mutation of Plekha7 attenuates salt-sensitive hypertension in the rat. (Endres BT, Priestley JR, Palygin O, Flister MJ, Hoffman MJ, Weinberg BD, Grzybowski M, Lombard JH, Staruschenko A, Moreno C, Jacob HJ, Geurts AM) Proc Natl Acad Sci U S A 2014 Sep 02;111(35):12817-22 48 Citations |
| 1 | Mutations associated with occult hepatitis B in HIV-positive South Africans. (Powell EA, Gededzha MP, Rentz M, Rakgole NJ, Selabe SG, Seleise TA, Mphahlele MJ, Blackard JT) J Med Virol 2015 Mar;87(3):388-400 20 Citations |
| 1 | Hypertrophic cardiomyopathy: a new mutation illustrates the need for family-centered care. (Lee DD, Veith RL, Dimmock DP, Samyn MM) Pediatr Cardiol 2014 Dec;35(8):1474-7 2 Citations |
| 1 | Outcomes of patients with advanced cancer and KRAS mutations in phase I clinical trials. (Said R, Ye Y, Falchook GS, Janku F, Naing A, Zinner R, Blumenschein GR Jr, Fu S, Hong DS, Piha-Paul SA, Wheler JJ, Kurzrock R, Palmer GA, Aldape K, Hess KR, Tsimberidou AM) Oncotarget 2014 Oct 15;5(19):8937-46 6 Citations |
| 1 | Prospective blinded study of BRAFV600E mutation detection in cell-free DNA of patients with systemic histiocytic disorders. (Hyman DM, Diamond EL, Vibat CR, Hassaine L, Poole JC, Patel M, Holley VR, Cabrilo G, Lu TT, Arcila ME, Chung YR, Rampal R, Lacouture ME, Rosen N, Meric-Bernstam F, Baselga J, Kurzrock R, Erlander MG, Janku F, Abdel-Wahab O) Cancer Discov 2015 Jan;5(1):64-71 112 Citations |
| 2 | Whole exome sequencing identifies a POLRID mutation segregating in a father and two daughters with findings of Klippel-Feil and Treacher Collins syndromes. (Giampietro PF, Armstrong L, Stoddard A, Blank RD, Livingston J, Raggio CL, Rasmussen K, Pickart M, Lorier R, Turner A, Sund S, Sobrera N, Neptune E, Sweetser D, Santiago-Cornier A, Broeckel U) Am J Med Genet A 2015 Jan;167A(1):95-102 12 Citations |
| 1 | Gain of Function Mutations of PIK3CD as a Cause of Primary Sclerosing Cholangitis. (Hartman HN, Niemela J, Hintermeyer MK, Garofalo M, Stoddard J, Verbsky JW, Rosenzweig SD, Routes JM) J Clin Immunol 2015 Jan;35(1):11-4 49 Citations |
| 1 | Early-onset lymphoproliferation and autoimmunity caused by germline STAT3 gain-of-function mutations. (Milner JD, Vogel TP, Forbes L, Ma CA, Stray-Pedersen A, Niemela JE, Lyons JJ, Engelhardt KR, Zhang Y, Topcagic N, Roberson ED, Matthews H, Verbsky JW, Dasu T, Vargas-Hernandez A, Varghese N, McClain KL, Karam LB, Nahmod K, Makedonas G, Mace EM, Sorte HS, Perminow G, Rao VK, O'Connell MP, Price S, Su HC, Butrick M, McElwee J, Hughes JD, Willet J, Swan D, Xu Y, Santibanez-Koref M, Slowik V, Dinwiddie DL, Ciaccio CE, Saunders CJ, Septer S, Kingsmore SF, White AJ, Cant AJ, Hambleton S, Cooper MA) Blood 2015 Jan 22;125(4):591-9 413 Citations |
| 1 | Inactivating mutations in NPC1L1 and protection from coronary heart disease. (Myocardial Infarction Genetics Consortium Investigators, Stitziel NO, Won HH, Morrison AC, Peloso GM, Do R, Lange LA, Fontanillas P, Gupta N, Duga S, Goel A, Farrall M, Saleheen D, Ferrario P, König I, Asselta R, Merlini PA, Marziliano N, Notarangelo MF, Schick U, Auer P, Assimes TL, Reilly M, Wilensky R, Rader DJ, Hovingh GK, Meitinger T, Kessler T, Kastrati A, Laugwitz KL, Siscovick D, Rotter JI, Hazen SL, Tracy R, Cresci S, Spertus J, Jackson R, Schwartz SM, Natarajan P, Crosby J, Muzny D, Ballantyne C, Rich SS, O'Donnell CJ, Abecasis G, Sunaev S, Nickerson DA, Buring JE, Ridker PM, Chasman DI, Austin E, Kullo IJ, Weeke PE, Shaffer CM, Bastarache LA, Denny JC, Roden DM, Palmer C, Deloukas P, Lin DY, Tang ZZ, Erdmann J, Schunkert H, Danesh J, Marrugat J, Elosua R, Ardissino D, McPherson R, Watkins H, Reiner AP, Wilson JG, Altshuler D, Gibbs RA, Lander ES, Boerwinkle E, Gabriel S, Kathiresan S) N Engl J Med 2014 Nov 27;371(22):2072-82 369 Citations |
| 2 | Truncating mutation in the nitric oxide synthase 1 gene is associated with infantile achalasia. (Shteyer E, Edvardson S, Wynia-Smith SL, Pierri CL, Zangen T, Hashavya S, Begin M, Yaacov B, Cinamon Y, Koplewitz BZ, Vromen A, Elpeleg O, Smith BC) Gastroenterology 2015 Mar;148(3):533-536.e4 35 Citations |
| 1 | Null mutation of the nicotinamide adenine dinucleotide phosphate-oxidase subunit p67phox protects the Dahl-S rat from salt-induced reductions in medullary blood flow and glomerular filtration rate. (Evans LC, Ryan RP, Broadway E, Skelton MM, Kurth T, Cowley AW Jr) Hypertension 2015 Mar;65(3):561-8 27 Citations |
| 1 | Integrative analysis of sequencing and array genotype data for discovering disease associations with rare mutations. (Hu YJ, Li Y, Auer PL, Lin DY) Proc Natl Acad Sci U S A 2015 Jan 27;112(4):1019-24 12 Citations |
| 2 | A novel FOXF1 mutation associated with alveolar capillary dysplasia and coexisting colobomas and hemihyperplasia. (Geddes GC, Dimmock DP, Hehir DA, Helbling DC, Kirkpatrick E, Loomba R, Southern J, Waknitz M, Scharer G, Konduri GG) J Perinatol 2015 Feb;35(2):155-7 4 Citations |
| 1 | VEGF-A Expression Correlates with TP53 Mutations in Non-Small Cell Lung Cancer: Implications for Antiangiogenesis Therapy. (Schwaederlé M, Lazar V, Validire P, Hansson J, Lacroix L, Soria JC, Pawitan Y, Kurzrock R) Cancer Res 2015 Apr 01;75(7):1187-90 95 Citations |
| 1 | Mutations in MAB21L2 result in ocular Coloboma, microcornea and cataracts. (Deml B, Kariminejad A, Borujerdi RH, Muheisen S, Reis LM, Semina EV) PLoS Genet 2015;11(2):e1005002 47 Citations |
| 1 | Identification of Unique, Heterozygous Germline Mutation, STK11 (p.F354L), in a Child with an Encapsulated Follicular Variant of Papillary Thyroid Carcinoma within Six Months of Completing Treatment for Neuroblastoma. (Buryk MA, Picarsic JL, Creary SE, Shaw PH, Simons JP, Deutsch M, Monaco SE, Nikiforov YE, Witchel SF) Pediatr Dev Pathol 2015;18(4):318-23 18 Citations |
| 1 | Mutation of SH2B3 (LNK), a genome-wide association study candidate for hypertension, attenuates Dahl salt-sensitive hypertension via inflammatory modulation. (Rudemiller NP, Lund H, Priestley JR, Endres BT, Prokop JW, Jacob HJ, Geurts AM, Cohen EP, Mattson DL) Hypertension 2015 May;65(5):1111-7 55 Citations |
| 1 | Electron capture dissociation and drift tube ion mobility-mass spectrometry coupled with site directed mutations provide insights into the conformational diversity of a metamorphic protein. (Harvey SR, Porrini M, Tyler RC, MacPhee CE, Volkman BF, Barran PE) Phys Chem Chem Phys 2015 Apr 28;17(16):10538-50 15 Citations |
| 1 | Novel PSTPIP1 gene mutation in a patient with pyogenic arthritis, pyoderma gangrenosum and acne (PAPA) syndrome. (Lindwall E, Singla S, Davis WE, Quinet RJ) Semin Arthritis Rheum 2015 Aug;45(1):91-3 41 Citations |
| 1 | Merkel Cell Carcinoma with a Suppressor of Fused (SUFU) Mutation: Case Report and Potential Therapeutic Implications. (Cohen PR, Kurzrock R) Dermatol Ther (Heidelb) 2015 Jun;5(2):129-43 10 Citations |
| 1 | Phase I combination of pazopanib and everolimus in PIK3CA mutation positive/PTEN loss patients with advanced solid tumors refractory to standard therapy. (Rodrigues HV, Ke D, Lim J, Stephen B, Bellido J, Janku F, Zinner R, Tsimberidou A, Hong D, Piha-Paul S, Fu S, Naing A, Subbiah V, Karp D, Falchook G, Kurzrock R, Wheler J) Invest New Drugs 2015 Jun;33(3):700-9 13 Citations |
| 1 | A Novel KCNJ13 Nonsense Mutation and Loss of Kir7.1 Channel Function Causes Leber Congenital Amaurosis (LCA16). (Pattnaik BR, Shahi PK, Marino MJ, Liu X, York N, Brar S, Chiang J, Pillers DA, Traboulsi EI) Hum Mutat 2015 Jul;36(7):720-7 40 Citations |
| 1 | Hypermorphic mutation of phospholipase C, γ2 acquired in ibrutinib-resistant CLL confers BTK independency upon B-cell receptor activation. (Liu TM, Woyach JA, Zhong Y, Lozanski A, Lozanski G, Dong S, Strattan E, Lehman A, Zhang X, Jones JA, Flynn J, Andritsos LA, Maddocks K, Jaglowski SM, Blum KA, Byrd JC, Dubovsky JA, Johnson AJ) Blood 2015 Jul 02;126(1):61-8 144 Citations |
| 1 | Actionable mutations in plasma cell-free DNA in patients with advanced cancers referred for experimental targeted therapies. (Janku F, Angenendt P, Tsimberidou AM, Fu S, Naing A, Falchook GS, Hong DS, Holley VR, Cabrilo G, Wheler JJ, Piha-Paul SA, Zinner RG, Bedikian AY, Overman MJ, Kee BK, Kim KB, Kopetz ES, Luthra R, Diehl F, Meric-Bernstam F, Kurzrock R) Oncotarget 2015 May 20;6(14):12809-21 80 Citations |
| 1 | ASXL1 mutated chronic myelomonocytic leukemia in a patient with familial thrombocytopenia secondary to germline mutation in ANKRD26. (Perez Botero J, Oliveira JL, Chen D, Reichard KK, Viswanatha DS, Nguyen PL, Pruthi RK, Majerus J, Gada P, Gangat N, Tefferi A, Patnaik MM) Blood Cancer J 2015 May 22;5(5):e315 33 Citations |
| 1 | Mutations of the functional ARH1 allele in tumors from ARH1 heterozygous mice and cells affect ARH1 catalytic activity, cell proliferation and tumorigenesis. (Kato J, Vekhter D, Heath J, Zhu J, Barbieri JT, Moss J) Oncogenesis 2015 Jun 01;4(6):e151 14 Citations |
| 1 | A homozygous B3GAT3 mutation causes a severe syndrome with multiple fractures, expanding the phenotype of linkeropathy syndromes. (Jones KL, Schwarze U, Adam MP, Byers PH, Mefford HC) Am J Med Genet A 2015 Nov;167A(11):2691-6 40 Citations |
| 1 | Recessive MYH6 Mutations in Hypoplastic Left Heart With Reduced Ejection Fraction. (Theis JL, Zimmermann MT, Evans JM, Eckloff BW, Wieben ED, Qureshi MY, O'Leary PW, Olson TM) Circ Cardiovasc Genet 2015 Aug;8(4):564-71 61 Citations |
| 1 | Hypertension-causing Mutations in Cullin3 Protein Impair RhoA Protein Ubiquitination and Augment the Association with Substrate Adaptors. (Ibeawuchi SR, Agbor LN, Quelle FW, Sigmund CD) J Biol Chem 2015 Jul 31;290(31):19208-17 50 Citations |
| 1 | EFTUD2 deficiency in vertebrates: Identification of a novel human mutation and generation of a zebrafish model. (Deml B, Reis LM, Muheisen S, Bick D, Semina EV) Birth Defects Res A Clin Mol Teratol 2015 Jul;103(7):630-40 28 Citations |
| 1 | Novel mutations in PAX6, OTX2 and NDP in anophthalmia, microphthalmia and coloboma. (Deml B, Reis LM, Lemyre E, Clark RD, Kariminejad A, Semina EV) Eur J Hum Genet 2016 Apr;24(4):535-41 59 Citations |
| 1 | Mutations in Plasmalemma Vesicle Associated Protein Result in Sieving Protein-Losing Enteropathy Characterized by Hypoproteinemia, Hypoalbuminemia, and Hypertriglyceridemia. (Elkadri A, Thoeni C, Deharvengt SJ, Murchie R, Guo C, Stavropoulos JD, Marshall CR, Wales P, Bandsma R, Cutz E, Roifman CM, Chitayat D, Avitzur Y, Stan RV, Muise AM) Cell Mol Gastroenterol Hepatol 2015 Jul;1(4):381-394.e7 39 Citations |
| 1 | Mutations in SIPA1L3 cause eye defects through disruption of cell polarity and cytoskeleton organization. (Greenlees R, Mihelec M, Yousoof S, Speidel D, Wu SK, Rinkwitz S, Prokudin I, Perveen R, Cheng A, Ma A, Nash B, Gillespie R, Loebel DA, Clayton-Smith J, Lloyd IC, Grigg JR, Tam PP, Yap AS, Becker TS, Black GC, Semina E, Jamieson RV) Hum Mol Genet 2015 Oct 15;24(20):5789-804 30 Citations |
| 3 | Phenotypic Characterization of Mice Carrying Homozygous Deletion of KLF11, a Gene in Which Mutations Cause Human Neonatal and MODY VII Diabetes. (Mathison A, Escande C, Calvo E, Seo S, White T, Salmonson A, Faubion WA Jr, Buttar N, Iovanna J, Lomberk G, Chini EN, Urrutia R) Endocrinology 2015 Oct;156(10):3581-95 9 Citations |
| 1 | A Semantic Web-based System for Mining Genetic Mutations in Cancer Clinical Trials. (Priya S, Jiang G, Dasari S, Zimmermann MT, Wang C, Heflin J, Chute CG) AMIA Jt Summits Transl Sci Proc 2015;2015:142-6 |
| 1 | Noncatalytic PTEN missense mutation predisposes to organ-selective cancer development in vivo. (Caserta E, Egriboz O, Wang H, Martin C, Koivisto C, Pecót T, Kladney RD, Shen C, Shim KS, Pham T, Karikomi MK, Mauntel MJ, Majumder S, Cuitino MC, Tang X, Srivastava A, Yu L, Wallace J, Mo X, Park M, Fernandez SA, Pilarski R, La Perle KM, Rosol TJ, Coppola V, Castrillon DH, Timmers C, Cohn DE, O'Malley DM, Backes F, Suarez AA, Goodfellow P, Chamberlin HM, Macrae ER, Shapiro CL, Ostrowski MC, Leone G) Genes Dev 2015 Aug 15;29(16):1707-20 26 Citations |
| 1 | BRAF mutation testing with a rapid, fully integrated molecular diagnostics system. (Janku F, Claes B, Huang HJ, Falchook GS, Devogelaere B, Kockx M, Bempt IV, Reijans M, Naing A, Fu S, Piha-Paul SA, Hong DS, Holley VR, Tsimberidou AM, Stepanek VM, Patel SP, Kopetz ES, Subbiah V, Wheler JJ, Zinner RG, Karp DD, Luthra R, Roy-Chowdhuri S, Sablon E, Meric-Bernstam F, Maertens G, Kurzrock R) Oncotarget 2015 Sep 29;6(29):26886-94 44 Citations |
| 1 | Novel SMC1A frameshift mutations in children with developmental delay and epilepsy. (Goldstein JH, Tim-Aroon T, Shieh J, Merrill M, Deeb KK, Zhang S, Bass NE, Bedoyan JK) Eur J Med Genet 2015 Oct;58(10):562-8 29 Citations |
| 1 | Erratum: Actionable mutations in plasma cell-free DNA in patients with advanced cancers referred for experimental targeted therapies. (Janku F, Angenendt P, Tsimberidou AM, Fu S, Naing A, Falchook GS, Hong DS, Holley VR, Cabrilo G, Wheler JJ, Piha-Paul SA, Zinner RG, Bedikian AY, Overman MJ, Kee BK, Kim KB, Kopetz ES, Luthra R, Diehl F, Meric-Bernstam F, Kurzrock R) Oncotarget 2015 Sep 15;6(27):24581 2 Citations |
| 1 | Next-Generation Sequencing of Matched Primary and Metastatic Rectal Adenocarcinomas Demonstrates Minimal Mutation Gain and Concordance to Colonic Adenocarcinomas. (Crumley SM, Pepper KL, Phan AT, Olsen RJ, Schwartz MR, Portier BP) Arch Pathol Lab Med 2016 Jun;140(6):529-35 16 Citations |
| 1 | Neurite Aggregation and Calcium Dysfunction in iPSC-Derived Sensory Neurons with Parkinson's Disease-Related LRRK2 G2019S Mutation. (Schwab AJ, Ebert AD) Stem Cell Reports 2015 Dec 08;5(6):1039-1052 71 Citations |
| 1 | Molecular dynamics use in personalized cancer medicine example of MET Y501C mutation (Tsigelny IF, Kurzrock R, Skjevik AA, Kouznetsova VL, Ikeda S) SIMULTECH 2016 - Proceedings of the 6th International Conference on Simulation and Modeling Methodologies, Technologies and Applications 2016:71-74 2 Citations |
| 1 | Congenital thrombotic thrombocytopenic purpura related to a novel mutation in ADAMTS13 gene and management during pregnancy. (Epperla N, Hemauer K, Friedman KD, George JN, Foy P) Am J Hematol 2016 Jun;91(6):644-6 11 Citations |
| 1 | Detection rate of actionable mutations in diverse cancers using a biopsy-free (blood) circulating tumor cell DNA assay. (Schwaederle M, Husain H, Fanta PT, Piccioni DE, Kesari S, Schwab RB, Banks KC, Lanman RB, Talasaz A, Parker BA, Kurzrock R) Oncotarget 2016 Mar 01;7(9):9707-17 118 Citations |
| 1 | Rosai-Dorfman Disease Harboring an Activating KRAS K117N Missense Mutation. (Shanmugam V, Margolskee E, Kluk M, Giorgadze T, Orazi A) Head Neck Pathol 2016 Sep;10(3):394-9 58 Citations |
| 1 | Targeted next-generation sequencing detects a high frequency of potentially actionable mutations in metastatic breast cancers. (Muller KE, Marotti JD, de Abreu FB, Peterson JD, Miller TW, Chamberlin MD, Tsongalis GJ, Tafe LJ) Exp Mol Pathol 2016 Jun;100(3):421-5 26 Citations |
| 1 | [Mutation Induction in the Mouse and Human Germline]. (Dubrova YE) Genetika 2016 Jan;52(1):24-36 1 Citation |
| 1 | BRAF Mutation Testing in Cell-Free DNA from the Plasma of Patients with Advanced Cancers Using a Rapid, Automated Molecular Diagnostics System. (Janku F, Huang HJ, Claes B, Falchook GS, Fu S, Hong D, Ramzanali NM, Nitti G, Cabrilo G, Tsimberidou AM, Naing A, Piha-Paul SA, Wheler JJ, Karp DD, Holley VR, Zinner RG, Subbiah V, Luthra R, Kopetz S, Overman MJ, Kee BK, Patel S, Devogelaere B, Sablon E, Maertens G, Mills GB, Kurzrock R, Meric-Bernstam F) Mol Cancer Ther 2016 Jun;15(6):1397-404 70 Citations |
| 1 | De novo RRAGC mutation activates mTORC1 signaling in syndromic fetal dilated cardiomyopathy. (Long PA, Zimmermann MT, Kim M, Evans JM, Xu X, Olson TM) Hum Genet 2016 Aug;135(8):909-917 23 Citations |
| 3 | Does FLT3 mutation impact survival after hematopoietic stem cell transplantation for acute myeloid leukemia? A Center for International Blood and Marrow Transplant Research (CIBMTR) analysis. (Deol A, Sengsayadeth S, Ahn KW, Wang HL, Aljurf M, Antin JH, Battiwalla M, Bornhauser M, Cahn JY, Camitta B, Chen YB, Cutler CS, Gale RP, Ganguly S, Hamadani M, Inamoto Y, Jagasia M, Kamble R, Koreth J, Lazarus HM, Liesveld J, Litzow MR, Marks DI, Nishihori T, Olsson RF, Reshef R, Rowe JM, Saad AA, Sabloff M, Schouten HC, Shea TC, Soiffer RJ, Uy GL, Waller EK, Wiernik PH, Wirk B, Woolfrey AE, Bunjes D, Devine S, de Lima M, Sandmaier BM, Weisdorf D, Khoury HJ, Saber W) Cancer 2016 Oct;122(19):3005-3014 39 Citations |
| 1 | Identification and characterization of the elusive mutation causing the historical von Willebrand Disease type IIC Miami. (Obser T, Ledford-Kraemer M, Oyen F, Brehm MA, Denis CV, Marschalek R, Montgomery RR, Sadler JE, Schneppenheim S, Budde U, Schneppenheim R) J Thromb Haemost 2016 Sep;14(9):1725-35 9 Citations |
| 1 | ATM Mutations in Cancer: Therapeutic Implications. (Choi M, Kipps T, Kurzrock R) Mol Cancer Ther 2016 Aug;15(8):1781-91 316 Citations |
| 1 | Inherited DNA-Repair Gene Mutations in Men with Metastatic Prostate Cancer. (Pritchard CC, Mateo J, Walsh MF, De Sarkar N, Abida W, Beltran H, Garofalo A, Gulati R, Carreira S, Eeles R, Elemento O, Rubin MA, Robinson D, Lonigro R, Hussain M, Chinnaiyan A, Vinson J, Filipenko J, Garraway L, Taplin ME, AlDubayan S, Han GC, Beightol M, Morrissey C, Nghiem B, Cheng HH, Montgomery B, Walsh T, Casadei S, Berger M, Zhang L, Zehir A, Vijai J, Scher HI, Sawyers C, Schultz N, Kantoff PW, Solit D, Robson M, Van Allen EM, Offit K, de Bono J, Nelson PS) N Engl J Med 2016 Aug 04;375(5):443-53 1120 Citations |
| 1 | ADAMTS16 mutations sensitize ovarian cancer cells to platinum-based chemotherapy. (Yasukawa M, Liu Y, Hu L, Cogdell D, Gharpure KM, Pradeep S, Nagaraja AS, Sood AK, Zhang W) Oncotarget 2017 Oct 24;8(51):88410-88420 11 Citations |
| 1 | A Targeted Mutation Identified through pKa Measurements Indicates a Postrecruitment Role for Fis1 in Yeast Mitochondrial Fission. (Koppenol-Raab M, Harwig MC, Posey AE, Egner JM, MacKenzie KR, Hill RB) J Biol Chem 2016 Sep 23;291(39):20329-44 11 Citations |
| 1 | Loss-of-function mutations in the RNA biogenesis factor NAF1 predispose to pulmonary fibrosis-emphysema. (Stanley SE, Gable DL, Wagner CL, Carlile TM, Hanumanthu VS, Podlevsky JD, Khalil SE, DeZern AE, Rojas-Duran MF, Applegate CD, Alder JK, Parry EM, Gilbert WV, Armanios M) Sci Transl Med 2016 Aug 10;8(351):351ra107 150 Citations |
| 1 | A germline mutation of HRPT2/CDC73 (70 G>T) in an adolescent female with parathyroid carcinoma: first case report and a review of the literature. (Serrano-Gonzalez M, Shay S, Austin J, Maceri DR, Pitukcheewanont P) J Pediatr Endocrinol Metab 2016 Sep 01;29(9):1005-12 14 Citations |
| 1 | Single-sample expression-based chemo-sensitivity score improves survival associations independently from genomic mutations for ovarian cancer Patients. (Zimmermann MT, Jiang G, Wang C) AMIA Jt Summits Transl Sci Proc 2016;2016:94-100 |
| 1 | A two-stage approach for combining gene expression and mutation with clinical data improves survival prediction in myelodysplastic syndromes and ovarian cancer. (Li Y, Zhang X, Akinyemiju T, Ojesina AI, Szychowski JM, Liu N, Xu B, Yi N) J Bioinform Genom 2016 Sep;1(1) |
| 3 | Risk reduction and survival benefit of prophylactic surgery in BRCA mutation carriers, a systematic review. (Ludwig KK, Neuner J, Butler A, Geurts JL, Kong AL) Am J Surg 2016 Oct;212(4):660-669 154 Citations |
| 1 | CAL2 Immunohistochemical Staining Accurately Identifies CALR Mutations in Myeloproliferative Neoplasms. (Nomani L, Bodo J, Zhao X, Durkin L, Loghavi S, Hsi ED) Am J Clin Pathol 2016 Oct;146(4):431-8 13 Citations |
| 1 | A Mutation and Prognostic Biomarker Study in Grade II and III Gliomas Utilizing a Combined Cohort of NRG Oncology/RTOG 9802 and 9813 (E.H. Bell
J.P. McElroy
J. Fleming
C. Timmers
A.R. Chakraborty
A.L. Salavaggione
S.M. Chang
E.G. Shaw
K. Aldape
D. Brachman
C.J. Schultz
H.A. Shih
M. Curtis
G.K. Hunter
A.D. Murtha
P. Zhang
M. Won
M.P. Mehta
A. Chakravarti) International Journal of Radiation Oncology, Biology, Physics ORAL SCIENTIFIC SESSION| VOLUME 96, ISSUE 2, SUPPLEMENT , S91, OCTOBER 01, 2016 |
| 1 | Single residue AAV capsid mutation improves transduction of photoreceptors in the Abca4-/- mouse and bipolar cells in the rd1 mouse and human retina ex vivo. (De Silva SR, Charbel Issa P, Singh MS, Lipinski DM, Barnea-Cramer AO, Walker NJ, Barnard AR, Hankins MW, MacLaren RE) Gene Ther 2016 Nov;23(11):767-774 24 Citations |
| 1 | Clinical and laboratory characteristics in congenital ANKRD26 mutation-associated thrombocytopenia: A detailed phenotypic study of a family. (Perez Botero J, Chen D, He R, Viswanatha DS, Majerus JA, Coon LM, Nguyen PL, Reichard KK, Oliveira JL, Tefferi A, Gangat N, Pruthi RK, Patnaik MM) Platelets 2016 Nov;27(7):712-715 17 Citations |
| 1 | Cullin-3 mutation causes arterial stiffness and hypertension through a vascular smooth muscle mechanism. (Agbor LN, Ibeawuchi SC, Hu C, Wu J, Davis DR, Keen HL, Quelle FW, Sigmund CD) JCI Insight 2016 Nov 17;1(19):e91015 50 Citations |
| 1 | Biallelic Mutations in MITF Cause Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness. (George A, Zand DJ, Hufnagel RB, Sharma R, Sergeev YV, Legare JM, Rice GM, Scott Schwoerer JA, Rius M, Tetri L, Gamm DM, Bharti K, Brooks BP) Am J Hum Genet 2016 Dec 01;99(6):1388-1394 70 Citations |
| 1 | Generation of human iPSCs from urine derived cells of a patient with a novel homozygous PAI-1 mutation. (Afzal MZ, Gartz M, Klyachko EA, Khan SS, Shah SJ, Gupta S, Shapiro AD, Vaughan DE, Strande JL) Stem Cell Res 2016 Nov;17(3):657-660 3 Citations |
| 1 | Clinical Characteristics, Mutation Spectrum, and Prevalence of Åland Eye Disease/Incomplete Congenital Stationary Night Blindness in Denmark. (Hove MN, Kilic-Biyik KZ, Trotter A, Grønskov K, Sander B, Larsen M, Carroll J, Bech-Hansen T, Rosenberg T) Invest Ophthalmol Vis Sci 2016 Dec 01;57(15):6861-6869 26 Citations |
| 1 | Macrocyclic MEK1/2 inhibitor with efficacy in a mouse model of cardiomyopathy caused by lamin A/C gene mutation. (Wu W, Chordia MD, Hart BP, Kumarasinghe ES, Ji MK, Bhargava A, Lawlor MW, Shin JY, Sera F, Homma S, Muchir A, Khire UR, Worman HJ) Bioorg Med Chem 2017 Feb 01;25(3):1004-1013 19 Citations |
| 1 | Association between GWAS-identified lung adenocarcinoma susceptibility loci and EGFR mutations in never-smoking Asian women, and comparison with findings from Western populations. (Seow WJ, Matsuo K, Hsiung CA, Shiraishi K, Song M, Kim HN, Wong MP, Hong YC, Hosgood HD 3rd, Wang Z, Chang IS, Wang JC, Chatterjee N, Tucker M, Wei H, Mitsudomi T, Zheng W, Kim JH, Zhou B, Caporaso NE, Albanes D, Shin MH, Chung LP, An SJ, Wang P, Zheng H, Yatabe Y, Zhang XC, Kim YT, Shu XO, Kim YC, Bassig BA, Chang J, Ho JC, Ji BT, Kubo M, Daigo Y, Ito H, Momozawa Y, Ashikawa K, Kamatani Y, Honda T, Sakamoto H, Kunitoh H, Tsuta K, Watanabe SI, Nokihara H, Miyagi Y, Nakayama H, Matsumoto S, Tsuboi M, Goto K, Yin Z, Shi J, Takahashi A, Goto A, Minamiya Y, Shimizu K, Tanaka K, Wu T, Wei F, Wong JY, Matsuda F, Su J, Kim YH, Oh IJ, Song F, Lee VH, Su WC, Chen YM, Chang GC, Chen KY, Huang MS, Yang PC, Lin HC, Xiang YB, Seow A, Park JY, Kweon SS, Chen CJ, Li H, Gao YT, Wu C, Qian B, Lu D, Liu J, Jeon HS, Hsiao CF, Sung JS, Tsai YH, Jung YJ, Guo H, Hu Z, Wang WC, Chung CC, Lawrence C, Burdett L, Yeager M, Jacobs KB, Hutchinson A, Berndt SI, He X, Wu W, Wang J, Li Y, Choi JE, Park KH, Sung SW, Liu L, Kang CH, Hu L, Chen CH, Yang TY, Xu J, Guan P, Tan W, Wang CL, Sihoe AD, Chen Y, Choi YY, Hung JY, Kim JS, Yoon HI, Cai Q, Lin CC, Park IK, Xu P, Dong J, Kim C, He Q, Perng RP, Chen CY, Vermeulen R, Wu J, Lim WY, Chen KC, Chan JK, Chu M, Li YJ, Li J, Chen H, Yu CJ, Jin L, Lo YL, Chen YH, Fraumeni JF Jr, Liu J, Yamaji T, Yang Y, Hicks B, Wyatt K, Li SA, Dai J, Ma H, Jin G, Song B, Wang Z, Cheng S, Li X, Ren Y, Cui P, Iwasaki M, Shimazu T, Tsugane S, Zhu J, Jiang G, Fei K, Wu G, Chien LH, Chen HL, Su YC, Tsai FY, Chen YS, Yu J, Stevens VL, Laird-Offringa IA, Marconett CN, Lin D, Chen K, Wu YL, Landi MT, Shen H, Rothman N, Kohno T, Chanock SJ, Lan Q) Hum Mol Genet 2017 Jan 15;26(2):454-465 58 Citations |
| 1 | ASXL1 mutations in myeloid neoplasms: pathogenetic considerations, impact on clinical outcomes and survival. (Alvarez Argote J, Dasanu CA) Curr Med Res Opin 2018 May;34(5):757-763 17 Citations |
| 1 | ADAMTS16 mutations sensitize ovarian cancer cells to platinumbased chemotherapy (Yasukawa M, Liu Y, Hu L, Cogdell D, Gharpure KM, Pradeep S, Nagaraja AS, Sood AK, Zhang W) Oncotarget 2017;8(51):88410-88420 11 Citations |
| 1 | Mutational Analysis of the QRRQ Motif in the Yeast Hig1 Type 2 Protein Rcf1 Reveals a Regulatory Role for the Cytochrome c Oxidase Complex. (Garlich J, Strecker V, Wittig I, Stuart RA) J Biol Chem 2017 Mar 31;292(13):5216-5226 29 Citations |
| 2 | Prognostic Mutations in Myelodysplastic Syndrome after Stem-Cell Transplantation. (Lindsley RC, Saber W, Mar BG, Redd R, Wang T, Haagenson MD, Grauman PV, Hu ZH, Spellman SR, Lee SJ, Verneris MR, Hsu K, Fleischhauer K, Cutler C, Antin JH, Neuberg D, Ebert BL) N Engl J Med 2017 Feb 09;376(6):536-547 521 Citations |
| 1 | Ankyrin repeat and zinc-finger domain-containing 1 mutations are associated with infantile-onset inflammatory bowel disease. (van Haaften-Visser DY, Harakalova M, Mocholi E, van Montfrans JM, Elkadri A, Rieter E, Fiedler K, van Hasselt PM, Triffaux EMM, van Haelst MM, Nijman IJ, Kloosterman WP, Nieuwenhuis EES, Muise AM, Cuppen E, Houwen RHJ, Coffer PJ) J Biol Chem 2017 May 12;292(19):7904-7920 23 Citations |
| 1 | Molecular analysis of patients with aniridia in Russian Federation broadens the spectrum of PAX6 mutations. (Vasilyeva TA, Voskresenskaya AA, Käsmann-Kellner B, Khlebnikova OV, Pozdeyeva NA, Bayazutdinova GM, Kutsev SI, Ginter EK, Semina EV, Marakhonov AV, Zinchenko RA) Clin Genet 2017 Dec;92(6):639-644 31 Citations |
| 1 | In vitro and in vivo fitness costs associated with Mycobacterium tuberculosis RpoB mutation H526D. (Rifat D, Campodónico VL, Tao J, Miller JA, Alp A, Yao Y, Karakousis PC) Future Microbiol 2017 Jul;12(9):753-765 20 Citations |
| 1 | Effect of position-specific single-point mutations and biophysical characterization of amyloidogenic peptide fragments identified from lattice corneal dystrophy patients. (Anandalakshmi V, Murugan E, Leng EGT, Ting LW, Chaurasia SS, Yamazaki T, Nagashima T, George BL, Peh GSL, Pervushin K, Lakshminarayanan R, Mehta JS) Biochem J 2017 May 09;474(10):1705-1725 14 Citations |
| 1 | Generation of human iPSCs from urine derived cells of patient with a novel heterozygous PAI-1 mutation. (Afzal MZ, Gartz M, Klyachko EA, Khan SS, Shah SJ, Gupta S, Shapiro AD, Vaughan DE, Strande JL) Stem Cell Res 2017 Jan;18:41-44 6 Citations |
| 1 | High expression of PD-1 ligands is associated with kataegis mutational signature and APOBEC3 alterations. (Boichard A, Tsigelny IF, Kurzrock R) Oncoimmunology 2017;6(3):e1284719 59 Citations |
| 1 | Hypertension-Causing Mutation in Peroxisome Proliferator-Activated Receptor γ Impairs Nuclear Export of Nuclear Factor-κB p65 in Vascular Smooth Muscle. (Mukohda M, Lu KT, Guo DF, Wu J, Keen HL, Liu X, Ketsawatsomkron P, Stump M, Rahmouni K, Quelle FW, Sigmund CD) Hypertension 2017 Jul;70(1):174-182 23 Citations |
| 1 | Exceptional Response to Nivolumab and Stereotactic Body Radiation Therapy (SBRT) in Neuroendocrine Cervical Carcinoma with High Tumor Mutational Burden: Management Considerations from the Center For Personalized Cancer Therapy at UC San Diego Moores Cancer Center. (Sharabi A, Kim SS, Kato S, Sanders PD, Patel SP, Sanghvi P, Weihe E, Kurzrock R) Oncologist 2017 Jun;22(6):631-637 86 Citations |
| 2 | Cohesin Mutations in Myeloid Malignancies. (Fisher JB, McNulty M, Burke MJ, Crispino JD, Rao S) Trends Cancer 2017 Apr;3(4):282-293 30 Citations |
| 1 | Spinocerebellar ataxia type 29 due to mutations in ITPR1: a case series and review of this emerging congenital ataxia. (Zambonin JL, Bellomo A, Ben-Pazi H, Everman DB, Frazer LM, Geraghty MT, Harper AD, Jones JR, Kamien B, Kernohan K, Koenig MK, Lines M, Palmer EE, Richardson R, Segel R, Tarnopolsky M, Vanstone JR, Gibbons M, Collins A, Fogel BL, Care4Rare Canada Consortium, Dudding-Byth T, Boycott KM) Orphanet J Rare Dis 2017 Jun 28;12(1):121 38 Citations |
| 1 | Confirmation that MAT1A p.Ala259Val mutation causes autosomal dominant hypermethioninemia. (Muriello MJ, Viall S, Bottiglieri T, Cusmano-Ozog K, Ferreira CR) Mol Genet Metab Rep 2017 Dec;13:9-12 7 Citations |
| 2 | Siblings With Mutations in TRAPPC11 Presenting With Limb-Girdle Muscular Dystrophy 2S. (Fee DB, Harmelink M, Monrad P, Pyzik E) J Clin Neuromuscul Dis 2017 Sep;19(1):27-30 23 Citations |
| 1 | BRAF mutation as a novel driver of eosinophilic cystitis. (Choi MY, Tsigelny IF, Boichard A, Skjevik ÅA, Shabaik A, Kurzrock R) Cancer Biol Ther 2017 Sep 02;18(9):655-659 4 Citations |
| 1 | Tumor Mutational Burden as an Independent Predictor of Response to Immunotherapy in Diverse Cancers. (Goodman AM, Kato S, Bazhenova L, Patel SP, Frampton GM, Miller V, Stephens PJ, Daniels GA, Kurzrock R) Mol Cancer Ther 2017 Nov;16(11):2598-2608 1583 Citations |
| 1 | Factor IX Gene (F9) Genotyping Trends and Spectrum of Mutations Identified: A Reference Laboratory Experience. (Perez Botero J, Coon LM, Majerus JA, Chen D, Pruthi RK) Semin Thromb Hemost 2018 Apr;44(3):287-292 2 Citations |
| 1 | Mutations of conserved non-coding elements of PITX2 in patients with ocular dysgenesis and developmental glaucoma. (Protas ME, Weh E, Footz T, Kasberger J, Baraban SC, Levin AV, Katz LJ, Ritch R, Walter MA, Semina EV, Gould DB) Hum Mol Genet 2017 Sep 15;26(18):3630-3638 26 Citations |
| 1 | Proteomic Features of Colorectal Cancer Identify Tumor Subtypes Independent of Oncogenic Mutations and Independently Predict Relapse-Free Survival. (Clarke CN, Lee MS, Wei W, Manyam G, Jiang ZQ, Lu Y, Morris J, Broom B, Menter D, Vilar-Sanchez E, Raghav K, Eng C, Chang GJ, Simon I, Bernards R, Overman M, Mills GB, Maru D, Kopetz S) Ann Surg Oncol 2017 Dec;24(13):4051-4058 23 Citations |
| 1 | Somatic second hit mutation of RASA1 in vascular endothelial cells in capillary malformation-arteriovenous malformation. (Lapinski PE, Doosti A, Salato V, North P, Burrows PE, King PD) Eur J Med Genet 2018 Jan;61(1):11-16 59 Citations |
| 1 | Comprehensive Analysis of Hypermutation in Human Cancer. (Campbell BB, Light N, Fabrizio D, Zatzman M, Fuligni F, de Borja R, Davidson S, Edwards M, Elvin JA, Hodel KP, Zahurancik WJ, Suo Z, Lipman T, Wimmer K, Kratz CP, Bowers DC, Laetsch TW, Dunn GP, Johanns TM, Grimmer MR, Smirnov IV, Larouche V, Samuel D, Bronsema A, Osborn M, Stearns D, Raman P, Cole KA, Storm PB, Yalon M, Opocher E, Mason G, Thomas GA, Sabel M, George B, Ziegler DS, Lindhorst S, Issai VM, Constantini S, Toledano H, Elhasid R, Farah R, Dvir R, Dirks P, Huang A, Galati MA, Chung J, Ramaswamy V, Irwin MS, Aronson M, Durno C, Taylor MD, Rechavi G, Maris JM, Bouffet E, Hawkins C, Costello JF, Meyn MS, Pursell ZF, Malkin D, Tabori U, Shlien A) Cell 2017 Nov 16;171(5):1042-1056.e10 522 Citations |
| 1 | The spectrum of manifestations in desmoplakin gene (DSP) spectrin repeat 6 domain mutations: Immunophenotyping and response to ustekinumab. (Paller AS, Czarnowicki T, Renert-Yuval Y, Holland K, Huynh T, Sadlier M, McAleer MA, Tran G, Geddes GC, Irvine AD, Guttman-Yassky E) J Am Acad Dermatol 2018 Mar;78(3):498-505.e2 56 Citations |
| 1 | Hermansky-Pudlak syndrome subtype 5 (HPS-5) novel mutation in a 65 year-old with oculocutaneous hypopigmentation and mild bleeding diathesis: The importance of recognizing a subtle phenotype. (Botero JP, Chen D, Majerus JA, Coon LM, He R, Warad DM, Pruthi RK, Nichols WL) Platelets 2018 Jan;29(1):91-94 8 Citations |
| 1 | Targeted Gene Sequencing of Gallbladder Carcinoma Identifies High-impact Somatic and Rare Germline Mutations. (Yadav S, DE Sarkar N, Kumari N, Krishnani N, Kumar A, Mittal B) Cancer Genomics Proteomics 2017;14(6):495-506 19 Citations |
| 1 | Cohesin mutations: contributors to myeloid malignancies. (Meyer AE, Rao S, Fisher JB) Oncotarget 2017 Oct 06;8(46):80107-80108 4 Citations |
| 1 | The Mutational Landscape of Gastrointestinal Malignancies as Reflected by Circulating Tumor DNA. (Riviere P, Fanta PT, Ikeda S, Baumgartner J, Heestand GM, Kurzrock R) Mol Cancer Ther 2018 Jan;17(1):297-305 30 Citations |
| 1 | Novel autosomal dominant TNNT1 mutation causing nemaline myopathy. (Konersman CG, Freyermuth F, Winder TL, Lawlor MW, Lagier-Tourenne C, Patel SB) Mol Genet Genomic Med 2017 Nov;5(6):678-691 24 Citations |
| 1 | Total Pancreatectomy With Intraportal Islet Autotransplantation as a Treatment of Chronic Pancreatitis in Patients With CFTR Mutations. (Colling KP, Bellin MD, Schwarzenberg SJ, Berry L, Wilhelm JJ, Dunn T, Pruett TL, Sutherland DER, Chinnakotla S, Dunitz JM, Beilman GJ) Pancreas 2018 Feb;47(2):238-244 10 Citations |
| 1 | Molecular Markers and Mutational Analysis (Clarke CN, Kopetz ES) Rectal Cancer: Modern Approaches to Treatment 1 January 2018:295-312 1 Citation |
| 1 | Cutting Edge: Check Your Mice-A Point Mutation in the Ncr1 Locus Identified in CD45.1 Congenic Mice with Consequences in Mouse Susceptibility to Infection. (Jang Y, Gerbec ZJ, Won T, Choi B, Podsiad A, B Moore B, Malarkannan S, Laouar Y) J Immunol 2018 Mar 15;200(6):1982-1987 24 Citations |
| 1 | COL6A and LAMA2 Mutation Congenital Muscular Dystrophy: A Clinical and Electrophysiological Study. (Verma S, Goyal P, Guglani L, Peinhardt C, Pelzek D, Barkhaus PE) J Clin Neuromuscul Dis 2018 Mar;19(3):108-116 8 Citations |
| 1 | Effects of the Arg9Cys and Arg25Cys mutations on phospholamban's conformational equilibrium in membrane bilayers. (Nelson SED, Ha KN, Gopinath T, Exline MH, Mascioni A, Thomas DD, Veglia G) Biochim Biophys Acta Biomembr 2018 Jun;1860(6):1335-1341 12 Citations |
| 1 | JAK2 V617F mutation in plasma cell-free DNA preceding clinically overt myelofibrosis: Implications for early diagnosis. (Choi MY, Kato S, Wang HY, Lin JH, Lanman RB, Kurzrock R) Cancer Biol Ther 2018 Aug 03;19(8):664-668 |
| 1 | Mutations in osteoprotegerin account for the CCAL1 locus in calcium pyrophosphate deposition disease. (Williams CJ, Qazi U, Bernstein M, Charniak A, Gohr C, Mitton-Fitzgerald E, Ortiz A, Cardinal L, Kaell AT, Rosenthal AK) Osteoarthritis Cartilage 2018 Jun;26(6):797-806 16 Citations |
| 1 | TP53 mutations and number of alterations correlate with maximum standardized uptake value (SUVmax) determined by positron emission tomography/computed tomography (PET/CT) [18F] fluorodeoxyglucose (18F-FDG PET). (Chang GH, Kurzrock R, Tran L, Schwaederle M, Hoh CK) Oncotarget 2018 Mar 06;9(18):14306-14310 5 Citations |
| 1 | A Rare De Novo RAI1 Gene Mutation Affecting BDNF-Enhancer-Driven Transcription Activity Associated with Autism and Atypical Smith-Magenis Syndrome Presentation. (Abad C, Cook MM, Cao L, Jones JR, Rao NR, Dukes-Rimsky L, Pauly R, Skinner C, Wang Y, Luo F, Stevenson RE, Walz K, Srivastava AK) Biology (Basel) 2018 May 24;7(2) 14 Citations |
| 2 | Molecular evaluation of a sporadic paraganglioma with concurrent IDH1 and ATRX mutations. (Zhang J, Jiang J, Luo Y, Li X, Lu Z, Liu Y, Huang J, Hou Y, Pang Y, Sun MYF, Wang TS, Evans DB, Pacak K, Zhuang Z, Gao X) Endocrine 2018 Aug;61(2):216-223 7 Citations |
| 1 | Dominant-negative IKZF1 mutations cause a T, B, and myeloid cell combined immunodeficiency. (Boutboul D, Kuehn HS, Van de Wyngaert Z, Niemela JE, Callebaut I, Stoddard J, Lenoir C, Barlogis V, Farnarier C, Vely F, Yoshida N, Kojima S, Kanegane H, Hoshino A, Hauck F, Lhermitte L, Asnafi V, Roehrs P, Chen S, Verbsky JW, Calvo KR, Husami A, Zhang K, Roberts J, Amrol D, Sleaseman J, Hsu AP, Holland SM, Marsh R, Fischer A, Fleisher TA, Picard C, Latour S, Rosenzweig SD) J Clin Invest 2018 Jul 02;128(7):3071-3087 113 Citations |
| 2 | A Rare Case Of a 2-year-old Boy With Alagille Syndrome and Type 3 Hereditary Hemochromatosis With TFR2 Mutation. (Khayat AA, Suchi M, Vitola B) J Pediatr Gastroenterol Nutr 2019 Apr;68(4):e68-e70 1 Citation |
| 1 | Glucocorticoid Receptor Mutations and Hypersensitivity to Endogenous and Exogenous Glucocorticoids. (Santen RJ, Jewell CM, Yue W, Heitjan DF, Raff H, Katen KS, Cidlowski JA) J Clin Endocrinol Metab 2018 Oct 01;103(10):3630-3639 22 Citations |
| 1 | Mutational analysis of CCL20 reveals flexibility of N-terminal amino acid composition and length. (Riutta SJ, Larsen O, Getschman AE, Rosenkilde MM, Hwang ST, Volkman BF) J Leukoc Biol 2018 Aug;104(2):423-434 6 Citations |
| 3 | Tissue-specific effects of targeted mutation of Mir29b1 in rats. (Xue H, Zhang G, Geurts AM, Usa K, Jensen DM, Liu Y, Widlansky ME, Liang M) EBioMedicine 2018 Sep;35:260-269 7 Citations |
| 1 | Residual Cone Structure in Patients With X-Linked Cone Opsin Mutations. (Patterson EJ, Kalitzeos A, Kasilian M, Gardner JC, Neitz J, Hardcastle AJ, Neitz M, Carroll J, Michaelides M) Invest Ophthalmol Vis Sci 2018 Aug 01;59(10):4238-4248 28 Citations |
| 1 | Apolipoprotein CII Amyloidosis Associated With p.Lys41Thr Mutation. (Sethi S, Dasari S, Plaisier E, Ronco P, Nasr SH, Brocheriou I, Theis JD, Vrana JA, Zimmermann MT, Quint PS, McPhail ED, Kurtin PJ) Kidney Int Rep 2018 Sep;3(5):1193-1201 18 Citations |
| 1 | The role of TERT promoter mutations in differentiating recurrent nevi from recurrent melanomas: A retrospective, case-control study. (Walton KE, Garfield EM, Zhang B, Quan VL, Shi K, Mohan LS, Haugh AM, VandenBoom T, Yazdan P, Isales MC, Panah E, Gerami P) J Am Acad Dermatol 2019 Mar;80(3):685-693 11 Citations |
| 1 | Identification of Incidental Germline Mutations in Patients With Advanced Solid Tumors Who Underwent Cell-Free Circulating Tumor DNA Sequencing. (Slavin TP, Banks KC, Chudova D, Oxnard GR, Odegaard JI, Nagy RJ, Tsang KWK, Neuhausen SL, Gray SW, Cristofanilli M, Rodriguez AA, Bardia A, Leyland-Jones B, Janicek MF, Lilly M, Sonpavde G, Lee CE, Lanman RB, Meric-Bernstam F, Kurzrock R, Weitzel JN) J Clin Oncol 2018 Oct 19;36(35):JCO1800328 73 Citations |
| 1 | Suppressor mutations reveal an NtrC-like response regulator, NmpR, for modulation of Type-IV Pili-dependent motility in Myxococcus xanthus. (Bretl DJ, Ladd KM, Atkinson SN, Müller S, Kirby JR) PLoS Genet 2018 Oct;14(10):e1007714 4 Citations |
| 1 | Maintenance olaparib following platinum-based chemotherapy in newly diagnosed patients (pts) with advanced ovarian cancer (OC) and a BRCA1/2 mutation (BRCAm): Phase III SOLO1 trial (Friedlander M, Moore K, Colombo N, Scambia G, Kim BG, Oaknin A, Lisyanskaya A, Floquet A, Leary A, Sonke GS, Gourley C, Banerjee S, Oza AM, González-Martín A, Aghajanian C, Bradley W, Lowe ES, Bloomfield R, Disilvestro P) Annals of Oncology November 2018;29:ix174-ix175 |
| 1 | Epidermolysis bullosa simplex-generalized severe type due to keratin 5 p.Glu477Lys mutation: Genotype-phenotype correlation and in silico modeling analysis. (Lalor L, Titeux M, Palisson F, Fuentes I, Yubero MJ, Tasanen K, Huilaja L, Has C, Tadini G, Haggstrom AN, Hovnanian A, Lucky AW) Pediatr Dermatol 2019 Jan;36(1):132-138 11 Citations |
| 1 | Cushing syndrome: Uncovering carney complex due to novel PRKAR1a mutation (Zhang CD, Pichurin PN, Bobr A, Lyden ML, Young WF, Bancos I) Endocrinology, Diabetes and Metabolism Case Reports 2019;2019(1) 7 Citations |
| 1 | De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders. (Reynhout S, Jansen S, Haesen D, van Belle S, de Munnik SA, Bongers EMHF, Schieving JH, Marcelis C, Amiel J, Rio M, Mclaughlin H, Ladda R, Sell S, Kriek M, Peeters-Scholte CMPCD, Terhal PA, van Gassen KL, Verbeek N, Henry S, Scott Schwoerer J, Malik S, Revencu N, Ferreira CR, Macnamara E, Braakman HMH, Brimble E, Ruzhnikov MRZ, Wagner M, Harrer P, Wieczorek D, Kuechler A, Tziperman B, Barel O, de Vries BBA, Gordon CT, Janssens V, Vissers LELM) Am J Hum Genet 2019 Jan 03;104(1):139-156 33 Citations |
| 2 | Genetic mutation of Kcnj16 identifies Kir5.1-containing channels as key regulators of acute and chronic pH homeostasis. (Puissant MM, Muere C, Levchenko V, Manis AD, Martino P, Forster HV, Palygin O, Staruschenko A, Hodges MR) FASEB J 2019 Apr;33(4):5067-5075 17 Citations |
| 1 | Metaplastic breast cancers: Genomic profiling, mutational burden and tumor-infiltrating lymphocytes. (Tray N, Taff J, Singh B, Suh J, Ngo N, Kwa M, Troxel AB, Chae YK, Kurzrock R, Patel SP, Sharon E, Denkert C, Ross JS, Adams S) Breast 2019 Apr;44:29-32 38 Citations |
| 1 | Dimerization defective MODY mutations of hepatocyte nuclear factor 4α. (Singh P, Tung SP, Han EH, Lee IK, Chi YI) Mutat Res 2019 Mar;814:1-6 4 Citations |
| 1 | Transcription Factor EB Activation Rescues Advanced αB-Crystallin Mutation-Induced Cardiomyopathy by Normalizing Desmin Localization. (Ma X, Mani K, Liu H, Kovacs A, Murphy JT, Foroughi L, French BA, Weinheimer CJ, Kraja A, Benjamin IJ, Hill JA, Javaheri A, Diwan A) J Am Heart Assoc 2019 Feb 19;8(4):e010866 38 Citations |
| 1 | Comprehensive Genomic Characterization of Parathyroid Cancer Identifies Novel Candidate Driver Mutations and Core Pathways. (Clarke CN, Katsonis P, Hsu TK, Koire AM, Silva-Figueroa A, Christakis I, Williams MD, Kutahyalioglu M, Kwatampora L, Xi Y, Lee JE, Koptez ES, Busaidy NL, Perrier ND, Lichtarge O) J Endocr Soc 2019 Mar 01;3(3):544-559 38 Citations |
| 3 | RAS Mutation Status Confers Prognostic Relevance in Patients Treated With Cytoreductive Surgery and Hyperthermic Intraperitoneal Chemotherapy for Colorectal Cancer. (Morgan Z, Chow BE, Strong EA, Tsai S, Christians K, Mogal H, Gamblin TC, Clarke CN) J Surg Res 2019 Aug;240:130-135 12 Citations |
| 1 | Second-Hit, Postzygotic PMVK and MVD Mutations in Linear Porokeratosis. (Atzmony L, Khan HM, Lim YH, Paller AS, Levinsohn JL, Holland KE, Mirza FN, Yin E, Ko CJ, Leventhal JS, Choate KA) JAMA Dermatol 2019 May 01;155(5):548-555 52 Citations |
| 1 | A rapid improved multiplex ligation detection reaction method for the identification of gene mutations in hereditary hearing loss. (Liu Y, Hu C, Liu C, Liu D, Mei L, He C, Jiang L, Wu H, Chen H, Feng Y) PLoS One 2019;14(4):e0215212 13 Citations |
| 1 | Schnitzler syndrome associated with MYD88 L265P mutation. (Goodman AM, Cohen PR, Li A, Hinds B, Kurzrock R) JAAD Case Rep 2019 Apr;5(4):312-316 7 Citations |
| 1 | BRCA1 mutations attenuate super-enhancer function and chromatin looping in haploinsufficient human breast epithelial cells. (Zhang X, Wang Y, Chiang HC, Hsieh YP, Lu C, Park BH, Jatoi I, Jin VX, Hu Y, Li R) Breast Cancer Res 2019 Apr 17;21(1):51 15 Citations |
| 1 | Recurrent MSC E116K mutations in ALK-negative anaplastic large cell lymphoma. (Luchtel RA, Zimmermann MT, Hu G, Dasari S, Jiang M, Oishi N, Jacobs HK, Zeng Y, Hundal T, Rech KL, Ketterling RP, Lee JH, Eckloff BW, Yan H, Gaonkar KS, Tian S, Ye Z, Kadin ME, Sidhu J, Jiang L, Voss J, Link BK, Syrbu SI, Facchetti F, Bennani NN, Slager SL, Ordog T, Kocher JP, Cerhan JR, Ansell SM, Feldman AL) Blood 2019 Jun 27;133(26):2776-2789 50 Citations |
| 1 | Maintenance olaparib after platinum-based chemotherapy in patients (pts) with newly diagnosed advanced ovarian cancer (OC) and a BRCA mutation (BRCAm): Efficacy by surgical and tumor status in the Phase III SOLO1 trial. (Cara Amanda Mathews, Kathleen N. Moore, Nicoletta Colombo, Giovanni Scambia, Byoung-Gie Kim, Ana Oaknin, Michael Friedlander, Alla Sergeevna Lisyanskaya, Anne Floquet, Alexandra Leary, Gabe S. Sonke, Charlie Gourley, Susana N. Banerjee, Amit M. Oza, Antonio González-Martín, Carol Aghajanian, William Hampton Bradley, Elizabeth S. Lowe, Ralph Bloomfield, Paul Disilvestro) Journal of Clinical Oncology DOI: 10.1200/JCO.2019.37.15_suppl.5541 Journal of Clinical Oncology 37, no. 15_suppl (May 20, 2019) 5541-5541. |
| 1 | Comprehensive genomic profiling of high-grade serous ovarian carcinoma from Chinese patients identifies co-occurring mutations in the Ras/Raf pathway with TP53. (Zhong F, Zhu T, Pan X, Zhang Y, Yang H, Wang X, Hu J, Han H, Mei L, Chen D, Wang K, Zhou X, Li X, Dong X) Cancer Med 2019 Jul;8(8):3928-3935 6 Citations |
| 1 | Loss-of-function mutations in SPEF2 cause multiple morphological abnormalities of the sperm flagella (MMAF). (Liu W, Sha Y, Li Y, Mei L, Lin S, Huang X, Lu J, Ding L, Kong S, Lu Z) J Med Genet 2019 Oct;56(10):678-684 58 Citations |
| 3 | Modeling post-translational modifications and cancer-associated mutations that impact the heterochromatin protein 1α-importin α heterodimers. (Zimmermann MT, Williams MM, Klee EW, Lomberk GA, Urrutia R) Proteins 2019 Nov;87(11):904-916 4 Citations |
| 1 | Mutations in RABL3 alter KRAS prenylation and are associated with hereditary pancreatic cancer. (Nissim S, Leshchiner I, Mancias JD, Greenblatt MB, Maertens O, Cassa CA, Rosenfeld JA, Cox AG, Hedgepeth J, Wucherpfennig JI, Kim AJ, Henderson JE, Gonyo P, Brandt A, Lorimer E, Unger B, Prokop JW, Heidel JR, Wang XX, Ukaegbu CI, Jennings BC, Paulo JA, Gableske S, Fierke CA, Getz G, Sunyaev SR, Wade Harper J, Cichowski K, Kimmelman AC, Houvras Y, Syngal S, Williams C, Goessling W) Nat Genet 2019 Sep;51(9):1308-1314 42 Citations |
| 1 | Microsatellite-Stable Tumors with High Mutational Burden Benefit from Immunotherapy. (Goodman AM, Sokol ES, Frampton GM, Lippman SM, Kurzrock R) Cancer Immunol Res 2019 Oct;7(10):1570-1573 177 Citations |
| 1 | Gtf2i and Gtf2ird1 mutation do not account for the full phenotypic effect of the Williams syndrome critical region in mouse models. (Kopp N, McCullough K, Maloney SE, Dougherty JD) Hum Mol Genet 2019 Oct 15;28(20):3443-3465 13 Citations |
| 2 | Somatic Mutations of lats2 Cause Peripheral Nerve Sheath Tumors in Zebrafish. (Brandt ZJ, North PN, Link BA) Cells 2019 Aug 25;8(9) 10 Citations |
| 1 | Relationship between protein biomarkers of chemotherapy response and microsatellite status, tumor mutational burden and PD-L1 expression in cancer patients. (Nikanjam M, Arguello D, Gatalica Z, Swensen J, Barkauskas DA, Kurzrock R) Int J Cancer 2020 Jun 01;146(11):3087-3097 19 Citations |
| 1 | Gain of function in somatic TP53 mutations is associated with immune-rich breast tumors and changes in tumor-associated macrophages. (Behring M, Vazquez AI, Cui X, Irvin MR, Ojesina AI, Agarwal S, Manne U, Shrestha S) Mol Genet Genomic Med 2019 Dec;7(12):e1001 8 Citations |
| 1 | Clinical and Biochemical Phenotypes in a Family With ENPP1 Mutations. (Kotwal A, Ferrer A, Kumar R, Singh RJ, Murthy V, Schultz-Rogers L, Zimmermann M, Lanpher B, Zimmerman K, Stabach PR, Klee E, Braddock DT, Wermers RA) J Bone Miner Res 2020 Apr;35(4):662-670 32 Citations |
| 1 | Engraftment of rare, pathogenic donor hematopoietic mutations in unrelated hematopoietic stem cell transplantation. (Wong WH, Bhatt S, Trinkaus K, Pusic I, Elliott K, Mahajan N, Wan F, Switzer GE, Confer DL, DiPersio J, Pulsipher MA, Shah NN, Sees J, Bystry A, Blundell JR, Shaw BE, Druley TE) Sci Transl Med 2020 Jan 15;12(526) 34 Citations |
| 1 | Kidney failure, arterial hypertension and left ventricular hypertrophy in rats with loss of function mutation of SOD3. (Guo H, Xu D, Kuroki M, Lu Z, Xu X, Geurts A, Osborn JW, Chen Y) Free Radic Biol Med 2020 May 20;152:787-796 13 Citations |
| 1 | Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy. (Hengel H, Bosso-Lefèvre C, Grady G, Szenker-Ravi E, Li H, Pierce S, Lebigot É, Tan TT, Eio MY, Narayanan G, Utami KH, Yau M, Handal N, Deigendesch W, Keimer R, Marzouqa HM, Gunay-Aygun M, Muriello MJ, Verhelst H, Weckhuysen S, Mahida S, Naidu S, Thomas TG, Lim JY, Tan ES, Haye D, Willemsen MAAP, Oegema R, Mitchell WG, Pierson TM, Andrews MV, Willing MC, Rodan LH, Barakat TS, van Slegtenhorst M, Gavrilova RH, Martinelli D, Gilboa T, Tamim AM, Hashem MO, AlSayed MD, Abdulrahim MM, Al-Owain M, Awaji A, Mahmoud AAH, Faqeih EA, Asmari AA, Algain SM, Jad LA, Aldhalaan HM, Helbig I, Koolen DA, Riess A, Kraegeloh-Mann I, Bauer P, Gulsuner S, Stamberger H, Ng AYJ, Tang S, Tohari S, Keren B, Schultz-Rogers LE, Klee EW, Barresi S, Tartaglia M, Mor-Shaked H, Maddirevula S, Begtrup A, Telegrafi A, Pfundt R, Schüle R, Ciruna B, Bonnard C, Pouladi MA, Stewart JC, Claridge-Chang A, Lefeber DJ, Alkuraya FS, Mathuru AS, Venkatesh B, Barycki JJ, Simpson MA, Jamuar SS, Schöls L, Reversade B) Nat Commun 2020 Jan 30;11(1):595 32 Citations |
| 2 | Reconstructing evolutionary trajectories of mutation signature activities in cancer using TrackSig. (Rubanova Y, Shi R, Harrigan CF, Li R, Wintersinger J, Sahin N, Deshwar AG, PCAWG Evolution and Heterogeneity Working Group, Morris QD, PCAWG Consortium) Nat Commun 2020 Feb 05;11(1):731 28 Citations |
| 2 | Divergent mutational processes distinguish hypoxic and normoxic tumours. (Bhandari V, Li CH, Bristow RG, Boutros PC, PCAWG Consortium) Nat Commun 2020 Feb 05;11(1):737 79 Citations |
| 2 | A deep learning system accurately classifies primary and metastatic cancers using passenger mutation patterns. (Jiao W, Atwal G, Polak P, Karlic R, Cuppen E, PCAWG Tumor Subtypes and Clinical Translation Working Group, Danyi A, de Ridder J, van Herpen C, Lolkema MP, Steeghs N, Getz G, Morris QD, Stein LD, PCAWG Consortium) Nat Commun 2020 Feb 05;11(1):728 111 Citations |
| 2 | The repertoire of mutational signatures in human cancer. (Alexandrov LB, Kim J, Haradhvala NJ, Huang MN, Tian Ng AW, Wu Y, Boot A, Covington KR, Gordenin DA, Bergstrom EN, Islam SMA, Lopez-Bigas N, Klimczak LJ, McPherson JR, Morganella S, Sabarinathan R, Wheeler DA, Mustonen V, PCAWG Mutational Signatures Working Group, Getz G, Rozen SG, Stratton MR, PCAWG Consortium) Nature 2020 Feb;578(7793):94-101 1649 Citations |
| 1 | A Mutation in γ-Adducin Impairs Autoregulation of Renal Blood Flow and Promotes the Development of Kidney Disease. (Fan F, Geurts AM, Pabbidi MR, Ge Y, Zhang C, Wang S, Liu Y, Gao W, Guo Y, Li L, He X, Lv W, Muroya Y, Hirata T, Prokop J, Booz GW, Jacob HJ, Roman RJ) J Am Soc Nephrol 2020 Apr;31(4):687-700 18 Citations |
| 1 | Nebulin nemaline myopathy recapitulated in a compound heterozygous mouse model with both a missense and a nonsense mutation in Neb. (Laitila JM, McNamara EL, Wingate CD, Goullee H, Ross JA, Taylor RL, van der Pijl R, Griffiths LM, Harries R, Ravenscroft G, Clayton JS, Sewry C, Lawlor MW, Ottenheijm CAC, Bakker AJ, Ochala J, Laing NG, Wallgren-Pettersson C, Pelin K, Nowak KJ) Acta Neuropathol Commun 2020 Feb 17;8(1):18 8 Citations |
| 1 | Novel Hemizygous IL2RG p.(Pro58Ser) Mutation Impairs IL-2 Receptor Complex Expression on Lymphocytes Causing X-Linked Combined Immunodeficiency. (Tuovinen EA, Grönholm J, Öhman T, Pöysti S, Toivonen R, Kreutzman A, Heiskanen K, Trotta L, Toiviainen-Salo S, Routes JM, Verbsky J, Mustjoki S, Saarela J, Kere J, Varjosalo M, Hänninen A, Seppänen MRJ) J Clin Immunol 2020 Apr;40(3):503-514 9 Citations |
| 1 | Human iPSC-Derived Neurons and Cerebral Organoids Establish Differential Effects of Germline NF1 Gene Mutations. (Anastasaki C, Wegscheid ML, Hartigan K, Papke JB, Kopp ND, Chen J, Cobb O, Dougherty JD, Gutmann DH) Stem Cell Reports 2020 Apr 14;14(4):541-550 45 Citations |
| 1 | SMARCB1 Gene Mutation Predisposes to Earlier Development of Glioblastoma: A Case Report of Familial GBM. (Mukherjee S, Stroberg E, Wang F, Morales L, Shan Y, Rao A, Huang JH, Wu E, Fonkem E) J Neuropathol Exp Neurol 2020 May 01;79(5):562-565 5 Citations |
| 1 | Successful Digital Revascularization in a Patient With Factor V Leiden Mutation (Lineberry K, Hoben G) Journal of Hand Surgery May 2020;45(5):458.e1-458.e3 1 Citation |
| 1 | Exceptional Response to Everolimus in a Patient with Metastatic Castrate-Resistant Prostate Cancer Harboring a PTEN Inactivating Mutation. (Kmak JA, Agarwal N, He Y, Heilmann AM, Miller VA, Ross JS, Pal SK, Ali SM, Kilari D) Case Rep Oncol 2020;13(1):456-461 1 Citation |
| 1 | MHC-I genotype and tumor mutational burden predict response to immunotherapy. (Goodman AM, Castro A, Pyke RM, Okamura R, Kato S, Riviere P, Frampton G, Sokol E, Zhang X, Ball ED, Carter H, Kurzrock R) Genome Med 2020 May 19;12(1):45 65 Citations |
| 1 | Role of ultraviolet mutational signature versus tumor mutation burden in predicting response to immunotherapy. (Pham TV, Boichard A, Goodman A, Riviere P, Yeerna H, Tamayo P, Kurzrock R) Mol Oncol 2020 Aug;14(8):1680-1694 27 Citations |
| 1 | A novel hotspot and rare somatic mutation p.A138V, at TP53 is associated with poor survival of pancreatic ductal and periampullary adenocarcinoma patients. (Saha G, Singh R, Mandal A, Das S, Chattopadhyay E, Panja P, Roy P, DeSarkar N, Gulati S, Ghatak S, Ghosh S, Banerjee S, Roy B, Ghosh S, Chaudhuri D, Arora N, Biswas NK, Sikdar N) Mol Med 2020 Jun 17;26(1):59 9 Citations |
| 1 | Plasma DNA as a "liquid biopsy" incompletely complements tumor biopsy for identification of mutations in a case series of four patients with oligometastatic breast cancer. (Chamberlin MD, Wells JD, Shee K, Bean JR, Marotti JD, Wells WA, Trask HW, Kolling FW, Bhatt A, Kaufman PA, Schwartz GN, Gemery JM, McNulty NJ, Tsapakos MJ, Barth RJ, Arrick BA, Gui J, Miller TW) Breast Cancer Res Treat 2020 Aug;182(3):665-677 1 Citation |
| 1 | High Tumor Mutational Burden Correlates with Longer Survival in Immunotherapy-Naïve Patients with Diverse Cancers. (Riviere P, Goodman AM, Okamura R, Barkauskas DA, Whitchurch TJ, Lee S, Khalid N, Collier R, Mareboina M, Frampton GM, Fabrizio D, Sharabi AB, Kato S, Kurzrock R) Mol Cancer Ther 2020 Oct;19(10):2139-2145 44 Citations |
| 1 | Efficacy of Maintenance Olaparib for Patients With Newly Diagnosed Advanced Ovarian Cancer With a BRCA Mutation: Subgroup Analysis Findings From the SOLO1 Trial. (DiSilvestro P, Colombo N, Scambia G, Kim BG, Oaknin A, Friedlander M, Lisyanskaya A, Floquet A, Leary A, Sonke GS, Gourley C, Banerjee S, Oza A, González-Martín A, Aghajanian CA, Bradley WH, Mathews CA, Liu J, Lowe ES, Bloomfield R, Moore KN) J Clin Oncol 2020 Oct 20;38(30):3528-3537 62 Citations |
| 1 | Dabrafenib and Trametinib in Patients With Tumors With BRAFV600E Mutations: Results of the NCI-MATCH Trial Subprotocol H. (Salama AKS, Li S, Macrae ER, Park JI, Mitchell EP, Zwiebel JA, Chen HX, Gray RJ, McShane LM, Rubinstein LV, Patton D, Williams PM, Hamilton SR, Armstrong DK, Conley BA, Arteaga CL, Harris LN, O'Dwyer PJ, Chen AP, Flaherty KT) J Clin Oncol 2020 Nov 20;38(33):3895-3904 139 Citations |
| 1 | The FDA approval of pembrolizumab for adult and pediatric patients with tumor mutational burden (TMB) ≥10: a decision centered on empowering patients and their physicians. (Subbiah V, Solit DB, Chan TA, Kurzrock R) Ann Oncol 2020 Sep;31(9):1115-1118 142 Citations |
| 2 | Sex differences in oncogenic mutational processes. (Li CH, Prokopec SD, Sun RX, Yousif F, Schmitz N, PCAWG Tumour Subtypes and Clinical Translation, Boutros PC, PCAWG Consortium) Nat Commun 2020 Aug 28;11(1):4330 52 Citations |
| 2 | Mutation of RORγT reveals a role for Th17 cells in both injury and recovery from renal ischemia-reperfusion injury. (Mehrotra P, Ullah MM, Collett JA, Myers SL, Dwinell MR, Geurts AM, Basile DP) Am J Physiol Renal Physiol 2020 Nov 01;319(5):F796-F808 12 Citations |
| 1 | Tumor mutational burden is not predictive of cytotoxic chemotherapy response. (Nikanjam M, Riviere P, Goodman A, Barkauskas DA, Frampton G, Kurzrock R) Oncoimmunology 2020 Jun 24;9(1):1781997 7 Citations |
| 2 | Retrospective evaluation of whole exome and genome mutation calls in 746 cancer samples. (Bailey MH, Meyerson WU, Dursi LJ, Wang LB, Dong G, Liang WW, Weerasinghe A, Li S, Li Y, Kelso S, MC3 Working Group, PCAWG novel somatic mutation calling methods working group, Saksena G, Ellrott K, Wendl MC, Wheeler DA, Getz G, Simpson JT, Gerstein MB, Ding L, PCAWG Consortium) Nat Commun 2020 Sep 21;11(1):4748 25 Citations |
| 1 | Survival Implications of the Relationship between Tissue versus Circulating Tumor DNA TP53 Mutations-A Perspective from a Real-World Precision Medicine Cohort. (Rosenberg S, Okamura R, Kato S, Soussi T, Kurzrock R) Mol Cancer Ther 2020 Dec;19(12):2612-2620 6 Citations |
| 1 | Loss of Fbxw7 triggers mammary tumorigenesis associated with E2F/c-Myc activation and Trp53 mutation. (Meyer AE, Furumo Q, Stelloh C, Minella AC, Rao S) Neoplasia 2020 Nov;22(11):644-658 11 Citations |
| 1 | The Challenges of Tumor Mutational Burden as an Immunotherapy Biomarker. (Jardim DL, Goodman A, de Melo Gagliato D, Kurzrock R) Cancer Cell 2021 Feb 08;39(2):154-173 450 Citations |
| 1 | Loss of Fbxw7 triggers mammary tumorigenesis associated with E2F/c-Myc activation and Trp53 mutation (Meyer AE, Furumo Q, Stelloh C, Minella AC, Rao S) Neoplasia (United States) November 2020;22(11):644-658 11 Citations |
| 1 | Dual Checkpoint Blockade in a Neuroendocrine Carcinoma With Dual PD-L1/PD-L2 Amplification and High Tumor Mutational Burden. (Gong J, Patel S, Adashek JJ, Frishberg D, Guan M, Placencio-Hickok VR, Gangi A, Gresham G, Tuli R, Chae YK, Kurzrock R, Hendifar AE) JCO Precis Oncol 2020;4 1 Citation |
| 2 | Structural bioinformatics enhances mechanistic interpretation of genomic variation, demonstrated through the analyses of 935 distinct RAS family mutations. (Tripathi S, Dsouza NR, Urrutia R, Zimmermann MT) Bioinformatics 2021 Jun 16;37(10):1367-1375 3 Citations |
| 2 | Author Correction: Retrospective evaluation of whole exome and genome mutation calls in 746 cancer samples. (Bailey MH, Meyerson WU, Dursi LJ, Wang LB, Dong G, Liang WW, Weerasinghe A, Li S, Li Y, Kelso S, MC3 Working Group, PCAWG novel somatic mutation calling methods working group, Saksena G, Ellrott K, Wendl MC, Wheeler DA, Getz G, Simpson JT, Gerstein MB, Ding L, PCAWG Consortium) Nat Commun 2020 Nov 30;11(1):6232 |
| 1 | Relationship between tumor mutational burden and maximum standardized uptake value in 2-[18F]FDG PET (positron emission tomography) scan in cancer patients. (Haghighat Jahromi A, Barkauskas DA, Zabel M, Goodman AM, Frampton G, Nikanjam M, Hoh CK, Kurzrock R) EJNMMI Res 2020 Dec 09;10(1):150 7 Citations |
| 1 | Follicular Lymphoma-associated BTK Mutations are Inactivating Resulting in Augmented AKT Activation. (Hu N, Wang F, Sun T, Xu Z, Zhang J, Bernard D, Xu S, Wang S, Kaminski M, Devata S, Phillips T, Malek SN) Clin Cancer Res 2021 Apr 15;27(8):2301-2313 15 Citations |
| 1 | Prognostic Significance of IDH1/2 Mutation and MGMT Promoter Methylation Status in RTOG 9813. (Fleming JL, Pugh S, Bell EH, Chang SM, McElroy J, Becker A, Timmers CD, Shih HA, Ashby L, Hunter GK, Bahary JP, Schultz CJ, Kavanagh BD, Yung WA, Robins I, Werner-Wasik M, Chakravarti A) Int J Radiat Oncol Biol Phys 2020 Dec 01;108(5):1399 |
| 2 | Novel germline TRAF3IP3 mutation in a dyad with familial acute B lymphoblastic leukemia. (Pommert L, Burns R, Furumo Q, Pulakanti K, Brandt J, Burke MJ, Rao S) Cancer Rep (Hoboken) 2021 Jun;4(3):e1335 1 Citation |
| 1 | Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction. (den Hoed J, de Boer E, Voisin N, Dingemans AJM, Guex N, Wiel L, Nellaker C, Amudhavalli SM, Banka S, Bena FS, Ben-Zeev B, Bonagura VR, Bruel AL, Brunet T, Brunner HG, Chew HB, Chrast J, Cimbalistienė L, Coon H, DDD Study, Délot EC, Démurger F, Denommé-Pichon AS, Depienne C, Donnai D, Dyment DA, Elpeleg O, Faivre L, Gilissen C, Granger L, Haber B, Hachiya Y, Abedi YH, Hanebeck J, Hehir-Kwa JY, Horist B, Itai T, Jackson A, Jewell R, Jones KL, Joss S, Kashii H, Kato M, Kattentidt-Mouravieva AA, Kok F, Kotzaeridou U, Krishnamurthy V, Kučinskas V, Kuechler A, Lavillaureix A, Liu P, Manwaring L, Matsumoto N, Mazel B, McWalter K, Meiner V, Mikati MA, Miyatake S, Mizuguchi T, Moey LH, Mohammed S, Mor-Shaked H, Mountford H, Newbury-Ecob R, Odent S, Orec L, Osmond M, Palculict TB, Parker M, Petersen AK, Pfundt R, Preikšaitienė E, Radtke K, Ranza E, Rosenfeld JA, Santiago-Sim T, Schwager C, Sinnema M, Snijders Blok L, Spillmann RC, Stegmann APA, Thiffault I, Tran L, Vaknin-Dembinsky A, Vedovato-Dos-Santos JH, Schrier Vergano SA, Vilain E, Vitobello A, Wagner M, Waheeb A, Willing M, Zuccarelli B, Kini U, Newbury DF, Kleefstra T, Reymond A, Fisher SE, Vissers LELM) Am J Hum Genet 2021 Feb 04;108(2):346-356 23 Citations |
| 1 | Effects of the TNFRSF11B Mutation Associated With Calcium Pyrophosphate Deposition Disease in Osteoclastogenesis in a Murine Model. (Mitton-Fitzgerald E, Gohr CM, Williams CJ, Ortiz A, Mbalaviele G, Rosenthal AK) Arthritis Rheumatol 2021 Aug;73(8):1543-1549 7 Citations |
| 1 | Authors' Reply: SMARCB1 Gene Mutation Predisposes to Earlier Development of Glioblastoma: A Case Report of Familial GBM. (Fonkem E, Peng S, Berens M, Mukherjee S) J Neuropathol Exp Neurol 2021 Feb 22;80(3):290-291 1 Citation |
| 1 | A cohesive look at leukemogenesis: The cohesin complex and other driving mutations in AML. (Heimbruch KE, Meyer AE, Agrawal P, Viny AD, Rao S) Neoplasia 2021 Mar;23(3):337-347 11 Citations |
| 1 | BRAF V600E/V600K Mutations versus Nonstandard Alterations: Prognostic Implications and Therapeutic Outcomes. (Nikanjam M, Tinajero J, Barkauskas DA, Kurzrock R) Mol Cancer Ther 2021 Jun;20(6):1072-1079 5 Citations |
| 1 | Patient-centred outcomes and effect of disease progression on health status in patients with newly diagnosed advanced ovarian cancer and a BRCA mutation receiving maintenance olaparib or placebo (SOLO1): a randomised, phase 3 trial. (Friedlander M, Moore KN, Colombo N, Scambia G, Kim BG, Oaknin A, Lisyanskaya A, Sonke GS, Gourley C, Banerjee S, Oza A, González-Martín A, Aghajanian C, Bradley WH, Liu J, Mathews C, Selle F, Lortholary A, Lowe ES, Hettle R, Flood E, Parkhomenko E, DiSilvestro P) Lancet Oncol 2021 May;22(5):632-642 35 Citations |
| 1 | Concordance of DNA Repair Gene Mutations in Paired Primary Prostate Cancer Samples and Metastatic Tissue or Cell-Free DNA. (Schweizer MT, Sivakumar S, Tukachinsky H, Coleman I, De Sarkar N, Yu EY, Konnick EQ, Nelson PS, Pritchard CC, Montgomery B) JAMA Oncol 2021 Jun 04;7(9):1-5 36 Citations |
| 1 | Left-dominant arrhythmogenic cardiomyopathy: an association with desmoglein-2 gene mutation-a case report. (Lao N, Laiq Z, Courson J, Al-Quthami A) Eur Heart J Case Rep 2021 Jun;5(6):ytab213 3 Citations |
| 1 | Tolerability of maintenance olaparib in newly diagnosed patients with advanced ovarian cancer and a BRCA mutation in the randomized phase III SOLO1 trial. (Colombo N, Moore K, Scambia G, Oaknin A, Friedlander M, Lisyanskaya A, Floquet A, Leary A, Sonke GS, Gourley C, Banerjee S, Oza A, González-Martín A, Aghajanian C, Bradley WH, Kim JW, Mathews C, Liu J, Lowe ES, Bloomfield R, DiSilvestro P) Gynecol Oncol 2021 Oct;163(1):41-49 16 Citations |
| 1 | Efficacy of systemic therapies in men with metastatic castration resistant prostate cancer harboring germline ATM versus BRCA2 mutations. (Sokolova AO, Marshall CH, Lozano R, Gulati R, Ledet EM, De Sarkar N, Grivas P, Higano CS, Montgomery B, Nelson PS, Olmos D, Sokolov V, Schweizer MT, Yezefski TA, Yu EY, Paller CJ, Sartor O, Castro E, Antonarakis ES, Cheng HH) Prostate 2021 Dec;81(16):1382-1389 9 Citations |
| 1 | SIGIRR Mutation in Human Necrotizing Enterocolitis (NEC) Disrupts STAT3-Dependent microRNA Expression in Neonatal Gut. (Yu W, Haque I, Venkatraman A, Menden HL, Mabry SM, Roy BC, Xia S, Prokop JW, Umar S, Geurts AM, Sampath V) Cell Mol Gastroenterol Hepatol 2022;13(2):425-440 16 Citations |
| 1 | Tolerability of maintenance olaparib in newly diagnosed patients with advanced ovarian cancer and a BRCA mutation in the randomized phase III SOLO1 trial (Colombo N, Moore K, Scambia G, Oaknin A, Friedlander M, Lisyanskaya A, Floquet A, Leary A, Sonke GS, Gourley C, Banerjee S, Oza A, González-Martín A, Aghajanian C, Bradley WH, Kim JW, Mathews C, Liu J, Lowe ES, Bloomfield R, DiSilvestro P) Gynecologic Oncology October 2021;163(1):41-49 16 Citations |
| 1 | Targeting ARID1A mutations in cancer. (Mullen J, Kato S, Sicklick JK, Kurzrock R) Cancer Treat Rev 2021 Nov;100:102287 62 Citations |
| 1 | Genomic alterations associated with mutational signatures, DNA damage repair and chromatin remodeling pathways in cervical carcinoma. (Halle MK, Sundaresan A, Zhang J, Pedamallu CS, Srinivasasainagendra V, Blair J, Brooke D, Bertelsen BI, Woie K, Shrestha S, Tiwari H, Wong YF, Krakstad C, Ojesina AI) NPJ Genom Med 2021 Oct 07;6(1):82 11 Citations |
| 1 | Intra-patient stability of tumor mutational burden from tissue biopsies at different time points in advanced cancers. (Pham TV, Goodman AM, Sivakumar S, Frampton G, Kurzrock R) Genome Med 2021 Oct 12;13(1):159 5 Citations |
| 1 | Maintenance olaparib for patients with newly diagnosed advanced ovarian cancer and a BRCA mutation (SOLO1/GOG 3004): 5-year follow-up of a randomised, double-blind, placebo-controlled, phase 3 trial. (Banerjee S, Moore KN, Colombo N, Scambia G, Kim BG, Oaknin A, Friedlander M, Lisyanskaya A, Floquet A, Leary A, Sonke GS, Gourley C, Oza A, González-Martín A, Aghajanian C, Bradley WH, Holmes E, Lowe ES, DiSilvestro P) Lancet Oncol 2021 Dec;22(12):1721-1731 160 Citations |
| 1 | Maintenance olaparib for patients with newly diagnosed advanced ovarian cancer and a BRCA mutation (SOLO1/GOG 3004): 5-year follow-up of a randomised, double-blind, placebo-controlled, phase 3 trial (Banerjee S, Moore KN, Colombo N, Scambia G, Kim BG, Oaknin A, Friedlander M, Lisyanskaya A, Floquet A, Leary A, Sonke GS, Gourley C, Oza A, González-Martín A, Aghajanian C, Bradley WH, Holmes E, Lowe ES, DiSilvestro P) The Lancet Oncology December 2021;22(12):1721-1731 160 Citations |
| 1 | Atezolizumab Treatment of Tumors with High Tumor Mutational Burden from MyPathway, a Multicenter, Open-Label, Phase IIa Multiple Basket Study. (Friedman CF, Hainsworth JD, Kurzrock R, Spigel DR, Burris HA, Sweeney CJ, Meric-Bernstam F, Wang Y, Levy J, Grindheim J, Shames DS, Schulze K, Patel A, Swanton C) Cancer Discov 2022 Mar 01;12(3):654-669 36 Citations |
| 1 | Hypofibrinogenemia with preserved hemostasis and protection from thrombosis in mice with an Fga truncation mutation. (Hur WS, Paul DS, Bouck EG, Negrón OA, Mwiza JM, Poole LG, Cline-Fedewa HM, Clark EG, Juang LJ, Leung J, Kastrup CJ, Ugarova TP, Wolberg AS, Luyendyk JP, Bergmeier W, Flick MJ) Blood 2022 Mar 03;139(9):1374-1388 11 Citations |
| 1 | Follow-up of patients with R/R FLT3-mutation-positive AML treated with gilteritinib in the phase 3 ADMIRAL trial. (Perl AE, Larson RA, Podoltsev NA, Strickland S, Wang ES, Atallah E, Schiller GJ, Martinelli G, Neubauer A, Sierra J, Montesinos P, Récher C, Yoon SS, Hosono N, Onozawa M, Chiba S, Kim HJ, Hasabou N, Lu Q, Tiu R, Levis MJ) Blood 2022 Jun 09;139(23):3366-3375 55 Citations |
| 1 | Association of differential expression of immunoregulatory molecules and presence of targetable mutations may inform rational design of clinical trials. (Szeto CW, Kurzrock R, Kato S, Goloubev A, Veerapaneni S, Preble A, Reddy SK, Adashek JJ) ESMO Open 2022 Feb;7(1):100396 10 Citations |
| 4 | Pediatric Donor Cell Acute Lymphoblastic Leukemia Following Bone Marrow Transplant for GATA2 Mutation. (Scheuermann A, Moskop A, Hopp A, Bone K, Drendel HM, Talano J, Harker-Murray P, Astle J) J Pediatr Hematol Oncol 2022 Jul 01;44(5):268-270 3 Citations |
| 1 | Mutations of the DNA repair gene PNKP in a patient with microcephaly, seizures, and developmental delay (MCSZ) presenting with a high-grade brain tumor. (Jiang B, Murray C, Cole BL, Glover JNM, Chan GK, Deschenes J, Mani RS, Subedi S, Nerva JD, Wang AC, Lockwood CM, Mefford HC, Leary SES, Ojemann JG, Weinfeld M, Ene CI) Sci Rep 2022 Mar 30;12(1):5386 4 Citations |
| 2 | The mutational landscape in chronic myelomonocytic leukemia and its impact on allogeneic hematopoietic cell transplantation outcomes: a Center for Blood and Marrow Transplantation Research (CIBMTR) analysis. (Mei M, Pillai R, Kim S, Estrada-Merly N, Afkhami M, Yang L, Meng Z, Abid MB, Aljurf M, Bacher U, Beitinjaneh A, Bredeson C, Cahn JY, Cerny J, Copelan E, Cutler C, DeFilipp Z, Diaz Perez MA, Farhadfar N, Freytes CO, Gadalla SM, Ganguly S, Gale RP, Gergis U, Grunwald MR, Hamilton BK, Hashmi S, Hildebrandt GC, Lazarus HM, Litzow M, Munker R, Murthy HS, Nathan S, Nishihori T, Patel SS, Rizzieri D, Seo S, Shah MV, Solh M, Verdonck LF, Vij R, Sobecks RM, Oran B, Scott BL, Saber W, Nakamura R) Haematologica 2023 Jan 01;108(1):150-160 10 Citations |
| 3 | Endothelial Cullin3 Mutation Impairs Nitric Oxide-Mediated Vasodilation and Promotes Salt-Induced Hypertension. (Wu J, Fang S, Lu KT, Kumar G, Reho JJ, Brozoski DT, Otanwa AJ, Hu C, Nair AR, Wackman KK, Agbor LN, Grobe JL, Sigmund CD) Function (Oxf) 2022;3(3):zqac017 6 Citations |
| 3 | Btg2 mutation induces renal injury and impairs blood pressure control in female rats. (Hoffman MJ, Takizawa A, Jensen ES, Schilling R, Grzybowski M, Geurts AM, Dwinell MR) Physiol Genomics 2022 Jul 01;54(7):231-241 1 Citation |
| 1 | Variable Mutation Expression in Human Cancers: A "Hide-and-Seek" Mechanism Linked to Differential MHC-I Presentation Dynamics. (Boichard A, Kurzrock R) Mol Cancer Ther 2022 Jul 05;21(7):1219-1226 |
| 6 | Defining the Mutational Landscape That Affects the Histone Demethylase KDM6A/UTX in Human Cancer. (Chi YI, Stodola TJ, de Assuncao TM, Volkman B, Smith B, Mathison AJ, Lomberk G, Zimmermann MT, Urrutia R) FASEB J 2022 May;36 Suppl 1 |
| 8 | Structural bioinformatics enhances the interpretation of somatic mutations in KDM6A found in human cancers. (Chi YI, Stodola TJ, De Assuncao TM, Leverence EN, Smith BC, Volkman BF, Mathison AJ, Lomberk G, Zimmermann MT, Urrutia R) Comput Struct Biotechnol J 2022;20:2200-2211 4 Citations |
| 1 | A novel somatic mutation in GNAQ in a capillary malformation provides insight into molecular pathogenesis. (Galeffi F, Snellings DA, Wetzel-Strong SE, Kastelic N, Bullock J, Gallione CJ, North PE, Marchuk DA) Angiogenesis 2022 Nov;25(4):493-502 8 Citations |
| 1 | Prevalence of ARID1A Mutations in Cell-Free Circulating Tumor DNA in a Cohort of 71,301 Patients and Association with Driver Co-Alterations. (Kurzrock R, Aggarwal C, Weipert C, Kiedrowski L, Riess J, Lenz HJ, Gandara D) Cancers (Basel) 2022 Sep 01;14(17) 3 Citations |
| 1 | Overall Survival With Maintenance Olaparib at a 7-Year Follow-Up in Patients With Newly Diagnosed Advanced Ovarian Cancer and a BRCA Mutation: The SOLO1/GOG 3004 Trial. (DiSilvestro P, Banerjee S, Colombo N, Scambia G, Kim BG, Oaknin A, Friedlander M, Lisyanskaya A, Floquet A, Leary A, Sonke GS, Gourley C, Oza A, González-Martín A, Aghajanian C, Bradley W, Mathews C, Liu J, McNamara J, Lowe ES, Ah-See ML, Moore KN, SOLO1 Investigators) J Clin Oncol 2023 Jan 20;41(3):609-617 114 Citations |
| 1 | High tumor amplification burden is associated with TP53 mutations in the pan-cancer setting. (Joshi RS, Boichard A, Adashek JJ, Kurzrock R) Cancer Biol Ther 2022 Dec 31;23(1):1-6 2 Citations |
| 3 | Beyond structural bioinformatics for genomics with dynamics characterization of an expanded KRAS mutational landscape (Ratnasinghe BD, Haque N, Wagenknecht JB, Jensen DR, Valdivia Esparza GK, Leverence EN, Milech De Assuncao T, Mathison AJ, Lomberk G, Smith BC, Volkman BF, Urrutia R, Zimmermann MT) Computational and Structural Biotechnology Journal January 2023;21:4790-4803 |
| 1 | Facing the conundrum: which first-line therapy should be used for patients with metastatic triple-negative breast cancer carrying germline BRCA mutation? (Alaklabi S, Roy AM, Chaudhary LN, Gandhi S) Exploration of Targeted Anti-tumor Therapy 2023;4(6):1301-1309 |
| 1 | Alpelisib Efficacy without Cherry-PI3King Mutations. (Tau S, Miller TW) Clin Cancer Res 2023 Mar 14;29(6):989-990 |
| 2 | A single F153Sβ3 mutation causes constitutive integrin αIIbβ3 activation in a variant form of Glanzmann thrombasthenia. (Koukouritaki SB, Thinn AMM, Ashworth KJ, Fang J, Slater HS, Du LM, Nguyen HTT, Pillois X, Nurden AT, Ng CJ, Di Paola J, Zhu J, Wilcox DA) Blood Adv 2023 Jul 11;7(13):3180-3191 1 Citation |
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| 1 | Characteristics and prognostic impact of IDH mutations in AML: a COG, SWOG, and ECOG analysis. (Zarnegar-Lumley S, Alonzo TA, Gerbing RB, Othus M, Sun Z, Ries RE, Wang J, Leonti A, Kutny MA, Ostronoff F, Radich JP, Appelbaum FR, Pogosova-Agadjanyan EL, O'Dwyer K, Tallman MS, Litzow M, Atallah E, Cooper TM, Aplenc RA, Abdel-Wahab O, Gamis AS, Luger S, Erba H, Levine R, Kolb EA, Stirewalt DL, Meshinchi S, Tarlock K) Blood Adv 2023 Oct 10;7(19):5941-5953 4 Citations |
| 2 | Different Mouse Models of Nemaline Myopathy Harboring Acta1 Mutations Display Differing Abnormalities Related to Mitochondrial Biology. (Tinklenberg JA, Slick RA, Sutton J, Zhang L, Meng H, Beatka MJ, Vanden Avond M, Prom MJ, Ott E, Montanaro F, Heisner J, Toro R, Hardeman EC, Geurts AM, Stowe DF, Hill RB, Lawlor MW) Am J Pathol 2023 Oct;193(10):1548-1567 2 Citations |
| 1 | Clinical presentation of calmodulin mutations: the International Calmodulinopathy Registry. (Crotti L, Spazzolini C, Nyegaard M, Overgaard MT, Kotta MC, Dagradi F, Sala L, Aiba T, Ayers MD, Baban A, Barc J, Beach CM, Behr ER, Bos JM, Cerrone M, Covi P, Cuneo B, Denjoy I, Donner B, Elbert A, Eliasson H, Etheridge SP, Fukuyama M, Girolami F, Hamilton R, Horie M, Iascone M, Jiménez-Jaimez J, Jensen HK, Kannankeril PJ, Kaski JP, Makita N, Muñoz-Esparza C, Odland HH, Ohno S, Papagiannis J, Porretta AP, Prandstetter C, Probst V, Robyns T, Rosenthal E, Rosés-Noguer F, Sekarski N, Singh A, Spentzou G, Stute F, Tfelt-Hansen J, Till J, Tobert KE, Vinocur JM, Webster G, Wilde AAM, Wolf CM, Ackerman MJ, Schwartz PJ) Eur Heart J 2023 Sep 14;44(35):3357-3370 10 Citations |
| 1 | Tumour mutational burden and survival with molecularly matched therapy (de Bortoli T, Benary M, Horak P, Lamping M, Stintzing S, Tinhofer I, Leyvraz S, Schäfer R, Klauschen F, Keller U, Stenzinger A, Fröhling S, Kurzrock R, Keilholz U, Rieke DT, Jelas I) European Journal of Cancer September 2023;190 1 Citation |
| 1 | Deleterious heteroplasmic mitochondrial mutations are associated with an increased risk of overall and cancer-specific mortality. (Hong YS, Battle SL, Shi W, Puiu D, Pillalamarri V, Xie J, Pankratz N, Lake NJ, Lek M, Rotter JI, Rich SS, Kooperberg C, Reiner AP, Auer PL, Heard-Costa N, Liu C, Lai M, Murabito JM, Levy D, Grove ML, Alonso A, Gibbs R, Dugan-Perez S, Gondek LP, Guallar E, Arking DE) Nat Commun 2023 Sep 30;14(1):6113 1 Citation |
| 1 | Data-adaptive and pathway-based tests for association studies between somatic mutations and germline variations in human cancers. (Chen Z, Liang H, Wei P) Genet Epidemiol 2023 Dec;47(8):617-636 |
| 5 | Beyond structural bioinformatics for genomics with dynamics characterization of an expanded KRAS mutational landscape. (Ratnasinghe BD, Haque N, Wagenknecht JB, Jensen DR, Valdivia Esparza GK, Leverence EN, Milech De Assuncao T, Mathison AJ, Lomberk G, Smith BC, Volkman BF, Urrutia R, Zimmermann MT) Comput Struct Biotechnol J 2023;21:4790-4803 |
| 2 | JAK2 V617F mutation and associated chromosomal alterations in primary and secondary myelofibrosis and post-HCT outcomes. (Rafati M, Brown DW, Zhou W, Jones K, Luo W, St Martin A, Wang Y, He M, Spellman SR, Wang T, Deeg HJ, Gupta V, Lee SJ, Bolon YT, Chanock SJ, Machiela MJ, Saber W, Gadalla SM) Blood Adv 2023 Dec 26;7(24):7506-7515 |
| 1 | The Epigenetic Evolution of Glioma Is Determined by the IDH1 Mutation Status and Treatment Regimen. (Malta TM, Sabedot TS, Morosini NS, Datta I, Garofano L, Vallentgoed W, Varn FS, Aldape K, D'Angelo F, Bakas S, Barnholtz-Sloan JS, Gan HK, Hasanain M, Hau AC, Johnson KC, Cazacu S, deCarvalho AC, Khasraw M, Kocakavuk E, Kouwenhoven MCM, Migliozzi S, Niclou SP, Niers JM, Ormond DR, Paek SH, Reifenberger G, Sillevis Smitt PA, Smits M, Stead LF, van den Bent MJ, Van Meir EG, Walenkamp A, Weiss T, Weller M, Westerman BA, Ylstra B, Wesseling P, Lasorella A, French PJ, Poisson LM, Consortium The GLASS, Verhaak RGW, Iavarone A, Noushmehr H) Cancer Res 2024 Mar 04;84(5):741-756 1 Citation |
| 1 | Facing the conundrum: which first-line therapy should be used for patients with metastatic triple-negative breast cancer carrying germline BRCA mutation? (Alaklabi S, Roy AM, Chaudhary LN, Gandhi S) Explor Target Antitumor Ther 2023;4(6):1301-1309 |
| 1 | Homologous recombination repair (HRR) alterations may be passenger events in patients with advanced prostate cancer (PC) with high tumor mutational burden (hTMB) (Vineel Bhatlapenumarthi, Navonil De Sarkar, Anannya Patwari, Emmanuel S. Antonarakis, Ariel Ann Nelson, Deepak Kilari) J Clin Oncol J Clin Oncol 42, 2024 (suppl 4; abstr 206) |
| 1 | Pancreatic Adenocarcinoma with Co-Occurrence of KRAS and EGFR Mutations: Case Report and Literature Review. (Mody J, Kamgar M) Case Rep Oncol 2024;17(1):399-406 |
| 3 | The Role of Demographic and Clinical Factors in Germline Mutation Testing for Patients with Primary Hyperparathyroidism. (Hangge PT, Dream S, Yen TWF, Doffek K, Stachowiak SM, Shaker J, Evans DB, Wang TS) Ann Surg Oncol 2024 Mar 08 1 Citation |
