| 1 | The impact of clinical genome sequencing in a global population with suspected rare genetic disease. (Thorpe E, Williams T, Shaw C, Chekalin E, Ortega J, Robinson K, Button J, Jones MC, Campo MD, Basel D, McCarrier J, Keppen LD, Royer E, Foster-Bonds R, Duenas-Roque MM, Urraca N, Bosfield K, Brown CW, Lydigsen H, Mroczkowski HJ, Ward J, Sirchia F, Giorgio E, Vaux K, Salguero HP, Lumaka A, Mubungu G, Makay P, Ngole M, Lukusa PT, Vanderver A, Muirhead K, Sherbini O, Lah MD, Anderson K, Bazalar-Montoya J, Rodriguez RS, Cornejo-Olivas M, Milla-Neyra K, Shinawi M, Magoulas P, Henry D, Gibson K, Wiafe S, Jayakar P, Salyakina D, Masser-Frye D, Serize A, Perez JE, Taylor A, Shenbagam S, Abou Tayoun A, Malhotra A, Bennett M, Rajan V, Avecilla J, Warren A, Arseneault M, Kalista T, Crawford A, Ajay SS, Perry DL, Belmont J, Taft RJ) Am J Hum Genet 2024 Jul 11;111(7):1271-1281 4 Citations |
| 1 | Annual incidence and severity of acute episodes in hereditary thrombotic thrombocytopenic purpura. (Tarasco E, Bütikofer L, Friedman KD, George JN, Hrachovinova I, Knöbl PN, Matsumoto M, von Krogh AS, Aebi-Huber I, Cermakova Z, Górska-Kosicka M, Jalowiec KA, Largiadèr CR, Prohászka Z, Sinkovits G, Windyga J, Lämmle B, Kremer Hovinga JA) Blood 2021 Jun 24;137(25):3563-3575 44 Citations |
| 1 | A Pilot Randomized, Controlled, Double-Blind Trial of Bumetanide to Treat Neonatal Seizures. (Soul JS, Bergin AM, Stopp C, Hayes B, Singh A, Fortuno CR, O'Reilly D, Krishnamoorthy K, Jensen FE, Rofeberg V, Dong M, Vinks AA, Wypij D, Staley KJ, Boston Bumetanide Trial Group) Ann Neurol 2021 Feb;89(2):327-340 64 Citations |
| 1 | Severe Platelet Transfusion Refractoriness in Association with Antibodies Against CD36. (Schmidt AE, Sahai T, Refaai MA, Sullivan M, Curtis BR) Lab Med 2020 Sep 01;51(5):540-544 9 Citations |
| 1 | MSeqDR mvTool: A mitochondrial DNA Web and API resource for comprehensive variant annotation, universal nomenclature collation, and reference genome conversion. (Shen L, Attimonelli M, Bai R, Lott MT, Wallace DC, Falk MJ, Gai X) Hum Mutat 2018 Jun;39(6):806-810 26 Citations |
| 1 | Fibroblast growth factor receptor signaling in hereditary and neoplastic disease: biologic and clinical implications. (Helsten T, Schwaederle M, Kurzrock R) Cancer Metastasis Rev 2015 Sep;34(3):479-96 117 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 |
| 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):591-9 452 Citations |
| 1 | Influence of a dual-injection regimen, plerixafor and CXCR4 on in utero hematopoietic stem cell transplantation and engraftment with use of the sheep model. (Goodrich AD, Varain NM, Jeanblanc CM, Colon DM, Kim J, Zanjani ED, Hematti P) Cytotherapy 2014 Sep;16(9):1280-93 8 Citations |
| 1 | Blastocyst culture and transfer in clinical-assisted reproduction: a committee opinion. (Practice Committees of the American Society for Reproductive Medicine and the Society for Assisted Reproductive Technology) Fertil Steril 2013 Mar 01;99(3):667-72 67 Citations |
| 2 | Whole exome sequencing in dominant cataract identifies a new causative factor, CRYBA2, and a variety of novel alleles in known genes. (Reis LM, Tyler RC, Muheisen S, Raggio V, Salviati L, Han DP, Costakos D, Yonath H, Hall S, Power P, Semina EV) Hum Genet 2013 Jul;132(7):761-70 80 Citations |
| 1 | Neurodevelopmental outcomes in children with congenital heart disease: evaluation and management: a scientific statement from the American Heart Association. (Marino BS, Lipkin PH, Newburger JW, Peacock G, Gerdes M, Gaynor JW, Mussatto KA, Uzark K, Goldberg CS, Johnson WH Jr, Li J, Smith SE, Bellinger DC, Mahle WT, American Heart Association Congenital Heart Defects Committee, Council on Cardiovascular Disease in the Young, Council on Cardiovascular Nursing, and Stroke Council) Circulation 2012 Aug 28;126(9):1143-72 1244 Citations |
| 1 | Eyelash trichomegaly: review of congenital, acquired, and drug-associated etiologies for elongation of the eyelashes. (Paul LJ, Cohen PR, Kurzrock R) Int J Dermatol 2012 Jun;51(6):631-46; quiz 643-4, 646 17 Citations |
| 2 | Progress and prospects in rat genetics: a community view. (Aitman TJ, Critser JK, Cuppen E, Dominiczak A, Fernandez-Suarez XM, Flint J, Gauguier D, Geurts AM, Gould M, Harris PC, Holmdahl R, Hubner N, Izsvák Z, Jacob HJ, Kuramoto T, Kwitek AE, Marrone A, Mashimo T, Moreno C, Mullins J, Mullins L, Olsson T, Pravenec M, Riley L, Saar K, Serikawa T, Shull JD, Szpirer C, Twigger SN, Voigt B, Worley K) Nat Genet 2008 May;40(5):516-22 243 Citations |
| 1 | Comparative genomics for detecting human disease genes. (Moreno C, Lazar J, Jacob HJ, Kwitek AE) Adv Genet 2008;60:655-97 17 Citations |
| 1 | Homeodomain revisited: a lesson from disease-causing mutations. (Chi YI) Hum Genet 2005 May;116(6):433-44 61 Citations |
| 1 | Identifying genes and genetic variation underlying human diseases and complex phenotypes via recombination mapping. (Broeckel U, Schork NJ) J Physiol 2004 Jan 01;554(Pt 1):40-5 19 Citations |
| 1 | Genitopatellar syndrome: expanding the phenotype. (Lifchez CA, Rhead WJ, Leuthner SR, Lubinsky MS) Am J Med Genet A 2003 Sep 15;122A(1):80-3 17 Citations |
| 1 | Rat Genome Database (RGD): mapping disease onto the genome. (Twigger S, Lu J, Shimoyama M, Chen D, Pasko D, Long H, Ginster J, Chen CF, Nigam R, Kwitek A, Eppig J, Maltais L, Maglott D, Schuler G, Jacob H, Tonellato PJ) Nucleic Acids Res 2002 Jan 01;30(1):125-8 93 Citations |
| 1 | Management of women at risk for malignancy. (Basil JB, Rader JS) Curr Opin Oncol 2000 Sep;12(5):508-13 1 Citation |
| 1 | Single nucleotide polymorphism spectra in newborns and centenarians: identification of genes coding for rise of mortal disease. (Tomita-Mitchell A, Muniappan BP, Herrero-Jimenez P, Zarbl H, Thilly WG) Gene 1998 Nov 26;223(1-2):381-91 26 Citations |
| 1 | The molecular basis of Rieger syndrome. Analysis of Pitx2 homeodomain protein activities. (Amendt BA, Sutherland LB, Semina EV, Russo AF) J Biol Chem 1998 Aug 07;273(32):20066-72 122 Citations |
| 1 | Results of bone marrow transplants from human leukocyte antigen-identical sibling donors for treatment of childhood leukemias. A report from the International Bone Marrow Transplant Registry. (Horowitz MM, Bortin MM) Am J Pediatr Hematol Oncol 1993 Feb;15(1):56-64 19 Citations |
