| 1 | Deep phenotyping of EHMT1 ankyrin repeat domain missense variants in Kleefstra syndrome by multi-tiered structural genomics analyses at atomic resolution. (Bursch KL, Chi YI, Licklider J, Jensen DR, Catlin AE, Zimmermann MT, Lomberk G, Urrutia RA, Smith BC) Hum Mol Genet 2026 Sep 11;35(20) |
| 1 | Genomic and phenotypic correlates of mosaic loss of chromosome Y in blood. (Jakubek YA, Ma X, Stilp AM, Yu F, Bacon J, Wong JW, Aguet F, Ardlie K, Arnett DK, Barnes K, Bis JC, Blackwell T, Becker LC, Boerwinkle E, Bowler RP, Budoff MJ, Carson AP, Chen J, Cho MH, Coresh J, Cox NJ, de Vries PS, DeMeo DL, Fardo DW, Fornage M, Guo X, Hall ME, Heard-Costa N, Hidalgo B, Irvin MR, Johnson AD, Jorgenson E, Kenny EE, Kessler MD, Levy D, Li Y, Lima JAC, Liu Y, Locke AE, Loos RJF, Machiela MJ, Mathias RA, Mitchell BD, Murabito JM, Mychaleckyj JC, North KE, Orchard P, Parker SCJ, Pershad Y, Peyser PA, Pratte KA, Psaty BM, Raffield LM, Redline S, Regeneron Genetics Center, Rich SS, Rotter JI, Shah SJ, Smith JA, Smith AP, Smith A, Taub MA, Tiwari HK, Tracy R, Tuftin B, NHLBI Trans-Omics for Precision Medicine Consortium, Bick AG, Sankaran VG, Reiner AP, Scheet P, Auer PL) Am J Hum Genet 2025 Feb 06;112(2):276-290 11 Citations |
| 2 | Integrative Modeling, Molecular Mechanics, and Molecular Dynamics Evaluation of Genomics Variants in KMT2C (MLL3), a Gene Involved in Kleefstra Syndrome Type 2. (Jorge SD, Chi YI, de Assuncao TM, Mathison AJ, Volkman B, Smith B, Lomberk G, Zimmermann MT, Urrutia R) FASEB J 2022 May;36 Suppl 1 |
| 1 | Rare and low frequency genomic variants impacting neuronal functions modify the Dup7q11.23 phenotype. (Qaiser F, Yin Y, Mervis CB, Morris CA, Klein-Tasman BP, Tam E, Osborne LR, Yuen RKC) Orphanet J Rare Dis 2021 Jan 06;16(1):6 10 Citations |
| 1 | [Analysis of a pedigree with partial trisomy 9 and partial monosomy 13 derived from a maternal balanced t(9;13) translocation]. (Sha Y, Mei L, Ji Z, Wang X, Lin S, Li L) Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2019 Apr 10;36(4):336-339 2 Citations |
| 1 | Exome sequencing of 85 Williams-Beuren syndrome cases rules out coding variation as a major contributor to remaining variance in social behavior. (Kopp ND, Parrish PCR, Lugo M, Dougherty JD, Kozel BA) Mol Genet Genomic Med 2018 Sep;6(5):749-765 9 Citations |
| 2 | A Novel Kleefstra Syndrome-associated Variant That Affects the Conserved TPLX Motif within the Ankyrin Repeat of EHMT1 Leads to Abnormal Protein Folding. (Blackburn PR, Tischer A, Zimmermann MT, Kemppainen JL, Sastry S, Knight Johnson AE, Cousin MA, Boczek NJ, Oliver G, Misra VK, Gavrilova RH, Lomberk G, Auton M, Urrutia R, Klee EW) J Biol Chem 2017 Mar 03;292(9):3866-3876 23 Citations |
| 1 | Current state of hematopoietic cell transplantation in CLL as smart therapies emerge. (Kharfan-Dabaja MA, El-Asmar J, Awan FT, Hamadani M, Ayala E) Best Pract Res Clin Haematol 2016 Mar;29(1):54-66 7 Citations |
| 2 | 8q21.11 microdeletion in two patients with syndromic peters anomaly. (Happ H, Schilter KF, Weh E, Reis LM, Semina EV) Am J Med Genet A 2016 Sep;170(9):2471-5 25 Citations |
| 7 | Effect of 22q11.2 deletion on bleeding and transfusion utilization in children with congenital heart disease undergoing cardiac surgery. (Brenner MK, Clarke S, Mahnke DK, Simpson P, Bercovitz RS, Tomita-Mitchell A, Mitchell ME, Newman DK) Pediatr Res 2016 Feb;79(2):318-24 30 Citations |
| 2 | Early therapy-related myeloid sarcoma and deletion of 9q22.32 to q31.1. (Brickler MM, Basel DG, Gheorghe G, Margolis DM, Kelly ME, Ehrhardt MJ) Pediatr Blood Cancer 2014 Sep;61(9):1701-3 2 Citations |
| 1 | Impact of targeted therapy on outcome of chronic lymphocytic leukemia patients with relapsed del(17p13.1) karyotype at a single center. (Stephens DM, Ruppert AS, Jones JA, Woyach J, Maddocks K, Jaglowski SM, Andritsos LA, Flynn JM, Grever MR, Lozanski G, Johnson AJ, Muthusamy N, Heerema NA, Byrd JC) Leukemia 2014 Jun;28(6):1365-8 18 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 6 Citations |
| 1 | Graft-versus-host disease: role of inflammation in the development of chromosomal abnormalities of keratinocytes. (Sloand EM, Pfannes L, Ling C, Feng X, Jasek M, Calado R, Tucker ZC, Hematti P, Maciejewski J, Dunbar C, Barrett J, Young N) Biol Blood Marrow Transplant 2010 Dec;16(12):1665-73 20 Citations |
| 1 | Genomic alterations in biliary atresia suggest region of potential disease susceptibility in 2q37.3. (Leyva-Vega M, Gerfen J, Thiel BD, Jurkiewicz D, Rand EB, Pawlowska J, Kaminska D, Russo P, Gai X, Krantz ID, Kamath BM, Hakonarson H, Haber BA, Spinner NB) Am J Med Genet A 2010 Apr;152A(4):886-95 69 Citations |
| 1 | Loss of Phosphatase and Tensin homologue deleted on chromosome 10 engages ErbB3 and insulin-like growth factor-I receptor signaling to promote antiestrogen resistance in breast cancer. (Miller TW, Pérez-Torres M, Narasanna A, Guix M, Stål O, Pérez-Tenorio G, Gonzalez-Angulo AM, Hennessy BT, Mills GB, Kennedy JP, Lindsley CW, Arteaga CL) Cancer Res 2009 May 15;69(10):4192-201 159 Citations |
| 1 | A 3.1-Mb microdeletion of 3p21.31 associated with cortical blindness, cleft lip, CNS abnormalities, and developmental delay. (Haldeman-Englert CR, Gai X, Perin JC, Ciano M, Halbach SS, Geiger EA, McDonald-McGinn DM, Hakonarson H, Zackai EH, Shaikh TH) Eur J Med Genet 2009;52(4):265-8 20 Citations |
| 1 | SNP array mapping of chromosome 20p deletions: genotypes, phenotypes, and copy number variation. (Kamath BM, Thiel BD, Gai X, Conlin LK, Munoz PS, Glessner J, Clark D, Warthen DM, Shaikh TH, Mihci E, Piccoli DA, Grant SF, Hakonarson H, Krantz ID, Spinner NB) Hum Mutat 2009 Mar;30(3):371-8 61 Citations |
| 1 | Phase II trial of preirradiation and concurrent temozolomide in patients with newly diagnosed anaplastic oligodendrogliomas and mixed anaplastic oligoastrocytomas: RTOG BR0131. (Vogelbaum MA, Berkey B, Peereboom D, Macdonald D, Giannini C, Suh JH, Jenkins R, Herman J, Brown P, Blumenthal DT, Biggs C, Schultz C, Mehta M) Neuro Oncol 2009 Apr;11(2):167-75 64 Citations |
| 1 | Secondary cytogenetic aberrations in childhood Philadelphia chromosome positive acute lymphoblastic leukemia are nonrandom and may be associated with outcome. (Heerema NA, Harbott J, Galimberti S, Camitta BM, Gaynon PS, Janka-Schaub G, Kamps W, Basso G, Pui CH, Schrappe M, Auclerc MF, Carroll AJ, Conter V, Harrison CJ, Pullen J, Raimondi SC, Richards S, Riehm H, Sather HN, Shuster JJ, Silverman LB, Valsecchi MG, Aricò M, Acute Lymphoblastic Leukemia Study Groups, ALL-BFM, CoALL, AIEOP, DCLSG, FRALLE, CCG, DFCI, POG, St Jude, UKALL) Leukemia 2004 Apr;18(4):693-702 74 Citations |
| 1 | Characterization of FRA6E and its potential role in autosomal recessive juvenile parkinsonism and ovarian cancer. (Denison SR, Callahan G, Becker NA, Phillips LA, Smith DI) Genes Chromosomes Cancer 2003 Sep;38(1):40-52 127 Citations |
| 1 | Large cell/anaplastic medulloblastomas and medullomyoblastomas: clinicopathological and genetic features. (Leonard JR, Cai DX, Rivet DJ, Kaufman BA, Park TS, Levy BK, Perry A) J Neurosurg 2001 Jul;95(1):82-8 93 Citations |
| 1 | The Williams syndrome cognitive profile. (Mervis CB, Robinson BF, Bertrand J, Morris CA, Klein-Tasman BP, Armstrong SC) Brain Cogn 2000 Dec;44(3):604-28 346 Citations |
| 1 | Cervical cancer suppressor gene is within 1 cM on 6p23. (Rader JS, Li Y, Huettner PC, Xu Z, Gerhard DS) Genes Chromosomes Cancer 2000 Apr;27(4):373-9 12 Citations |
| 1 | Hand involvement in 13q deletion syndrome. (Grindel SI, Sandlin C, Wood VE) J Pediatr Orthop 1999;19(5):620-3 3 Citations |
| 1 | Frequent deletions within FRA7G at 7q31.2 in invasive epithelial ovarian cancer. (Huang H, Reed CP, Mordi A, Lomberk G, Wang L, Shridhar V, Hartmann L, Jenkins R, Smith DI) Genes Chromosomes Cancer 1999 Jan;24(1):48-55 40 Citations |
| 1 | Loss of heterozygosity in clinical stage IB cervical carcinoma: relationship with clinical and histopathologic features. (Huettner PC, Gerhard DS, Li L, Gersell DJ, Dunnigan K, Kamarasova T, Rader JS) Hum Pathol 1998 Apr;29(4):364-70 38 Citations |
| 1 | Allelotyping of all chromosomal arms in invasive cervical cancer. (Rader JS, Kamarasova T, Huettner PC, Li L, Li Y, Gerhard DS) Oncogene 1996 Dec 19;13(12):2737-41 90 Citations |
| 1 | Potential role of the inactivated X chromosome in ovarian epithelial tumor development. (Cheng PC, Gosewehr JA, Kim TM, Velicescu M, Wan M, Zheng J, Felix JC, Cofer KF, Luo P, Biela BH, Godorov G, Dubeau L) J Natl Cancer Inst 1996 Apr 17;88(8):510-8 78 Citations |
| 1 | A region of consistent deletion in neuroblastoma maps within human chromosome 1p36.2-36.3. (White PS, Maris JM, Beltinger C, Sulman E, Marshall HN, Fujimori M, Kaufman BA, Biegel JA, Allen C, Hilliard C, Valentine MB, Look AT, Enomoto H, Sakiyama S, Brodeur GM) Proc Natl Acad Sci U S A 1995 Jun 06;92(12):5520-4 235 Citations |
| 1 | Chromosome 8 alterations accompany tumorigenesis in renin-SV40 T antigen transgenic mice. (Held WA, O'Brien JG, Kerns K, Gallagher JF, Sigmund CD, Gross KW) Cancer Res 1994 Dec 15;54(24):6496-9 5 Citations |
| 1 | Preferential amplification of the paternal allele in neuroblastomas with N-myc amplification. (Cheng JM, Hiemstra JL, Schneider SS, Kaufman BA, Naumova A, Cheung NK, Cohn SL, Diller L, Sapienza C, Brodeur GM) Prog Clin Biol Res 1994;385:43-9 4 Citations |
| 1 | The carboxyl terminus of the S1 subunit of pertussis toxin confers high affinity binding to transducin. (Cortina G, Krueger KM, Barbieri JT) J Biol Chem 1991 Dec 15;266(35):23810-4 21 Citations |
| 1 | Biochemical and biophysical characterization of the reovirus cell attachment protein sigma 1: evidence that it is a homotrimer. (Strong JE, Leone G, Duncan R, Sharma RK, Lee PW) Virology 1991 Sep;184(1):23-32 64 Citations |
| 1 | Anti-adenovirus type 5 cytotoxic T lymphocytes: immunodominant epitopes are encoded by the E1A gene. (Routes JM, Bellgrau D, McGrory WJ, Bautista DS, Graham FL, Cook JL) J Virol 1991 Mar;65(3):1450-7 27 Citations |
| 1 | The N-terminal quarter of reovirus cell attachment protein sigma 1 possesses intrinsic virion-anchoring function. (Mah DC, Leone G, Jankowski JM, Lee PW) Virology 1990 Nov;179(1):95-103 37 Citations |
| 1 | Exon 7 Ncol restriction site within CYP21B (steroid 21-hydroxylase) is a normal polymorphism. (Donohoue PA, Sandrini Neto R, Collins MM, Migeon CJ) Mol Endocrinol 1990 Sep;4(9):1354-62 14 Citations |
| 1 | The function of micF RNA. micF RNA is a major factor in the thermal regulation of OmpF protein in Escherichia coli. (Andersen J, Forst SA, Zhao K, Inouye M, Delihas N) J Biol Chem 1989 Oct 25;264(30):17961-70 124 Citations |
| 1 | Two distinct areas of unequal crossingover within the steroid 21-hydroxylase genes produce absence of CYP21B. (Donohoue PA, Jospe N, Migeon CJ, Van Dop C) Genomics 1989 Oct;5(3):397-406 43 Citations |
| 1 | Analysis of breakpoints within the bcr gene and their correlation with the clinical course of Philadelphia-positive chronic myelogenous leukemia. (Shtalrid M, Talpaz M, Kurzrock R, Kantarjian H, Trujillo J, Gutterman J, Yoffe G, Blick M) Blood 1988 Aug;72(2):485-90 116 Citations |
| 1 | Excision of the Drosophila transposable element mariner: identification and characterization of the Mos factor. (Medhora MM, MacPeek AH, Hartl DL) EMBO J 1988 Jul;7(7):2185-9 59 Citations |
| 1 | Restriction fragment analysis of duplication of the fourth component of complement (C4A). (McLean RH, Donohoue PA, Jospe N, Bias WB, Van Dop C, Migeon CJ) Genomics 1988 Jan;2(1):76-85 10 Citations |
