Clinical whole-exome sequencing for the diagnosis of mendelian disorders Y Yang, DM Muzny, JG Reid, MN Bainbridge, A Willis, PA Ward, ... New England Journal of Medicine 369 (16), 1502-1511, 2013 | 2209 | 2013 |
Molecular findings among patients referred for clinical whole-exome sequencing Y Yang, DM Muzny, F Xia, Z Niu, R Person, Y Ding, P Ward, A Braxton, ... Jama 312 (18), 1870-1879, 2014 | 1457 | 2014 |
Length of uninterrupted CGG repeats determines instability in the FMR1 gene EE Eichler, JJA Holden, BW Popovich, AL Reiss, K Snow, SN Thibodeau, ... Nature genetics 8 (1), 88-94, 1994 | 610 | 1994 |
Use of exome sequencing for infants in intensive care units: ascertainment of severe single-gene disorders and effect on medical management L Meng, M Pammi, A Saronwala, P Magoulas, AR Ghazi, F Vetrini, ... JAMA pediatrics 171 (12), e173438-e173438, 2017 | 413 | 2017 |
Percutaneous coronary intervention and adjunctive pharmacotherapy in women: a statement for healthcare professionals from the American Heart Association AJ Lansky, JS Hochman, PA Ward, GS Mintz, R Fabunmi, PB Berger, ... Circulation 111 (7), 940-953, 2005 | 309 | 2005 |
Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males D Del Gaudio, P Fang, F Scaglia, PA Ward, WJ Craigen, DG Glaze, ... Genetics in Medicine 8 (12), 784-792, 2006 | 299 | 2006 |
Clinical use of array comparative genomic hybridization (aCGH) for prenatal diagnosis in 300 cases IB Van den Veyver, A Patel, CA Shaw, AN Pursley, SHL Kang, ... Prenatal Diagnosis: Published in Affiliation With the International Society …, 2009 | 253 | 2009 |
Clinical implementation of chromosomal microarray analysis: summary of 2513 postnatal cases X Lu, CA Shaw, A Patel, J Li, ML Cooper, WR Wells, CM Sullivan, ... PloS one 2 (3), e327, 2007 | 249 | 2007 |
Reanalysis of clinical exome sequencing data P Liu, L Meng, EA Normand, F Xia, X Song, A Ghazi, J Rosenfeld, ... New England Journal of Medicine 380 (25), 2478-2480, 2019 | 221 | 2019 |
Prenatal diagnosis of chromosomal abnormalities using array-based comparative genomic hybridization T Sahoo, SW Cheung, P Ward, S Darilek, A Patel, D Del Gaudio, ... Genetics in Medicine 8 (11), 719-727, 2006 | 207 | 2006 |
Positive predictive value estimates for cell-free noninvasive prenatal screening from data of a large referral genetic diagnostic laboratory AK Petersen, SW Cheung, JL Smith, W Bi, PA Ward, S Peacock, ... American journal of obstetrics and gynecology 217 (6), 691. e1-691. e6, 2017 | 186 | 2017 |
Antiviral activity of hop constituents against a series of DNA and RNA viruses VE Buckwold, RJH Wilson, A Nalca, BB Beer, TG Voss, JA Turpin, ... Antiviral research 61 (1), 57-62, 2004 | 186 | 2004 |
MARRVEL: integration of human and model organism genetic resources to facilitate functional annotation of the human genome J Wang, R Al-Ouran, Y Hu, SY Kim, YW Wan, MF Wangler, S Yamamoto, ... The American Journal of Human Genetics 100 (6), 843-853, 2017 | 175 | 2017 |
The undiagnosed diseases network: accelerating discovery about health and disease RB Ramoni, JJ Mulvihill, DR Adams, P Allard, EA Ashley, JA Bernstein, ... The American Journal of Human Genetics 100 (2), 185-192, 2017 | 158 | 2017 |
Prenatal chromosomal microarray analysis in a diagnostic laboratory; experience with> 1000 cases and review of the literature A Breman, AN Pursley, P Hixson, W Bi, P Ward, CA Bacino, C Shaw, ... Prenatal diagnosis 32 (4), 351-361, 2012 | 149 | 2012 |
Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder EA Normand, A Braxton, S Nassef, PA Ward, F Vetrini, W He, V Patel, ... Genome medicine 10, 1-14, 2018 | 138 | 2018 |
Psychological aspects of genetic counseling. III. Management of guilt and shame S Kessler, H Kessler, P Ward, JM Opitz American journal of medical genetics 17 (3), 673-697, 1984 | 122 | 1984 |
A syndromic neurodevelopmental disorder caused by de novo variants in EBF3 HT Chao, M Davids, E Burke, JG Pappas, JA Rosenfeld, AJ McCarty, ... The American Journal of Human Genetics 100 (1), 128-137, 2017 | 114 | 2017 |
A homozygous mutation in MSH6 causes Turcot syndrome MR Hegde, B Chong, ME Blazo, LHE Chin, PA Ward, MM Chintagumpala, ... Clinical cancer research 11 (13), 4689-4693, 2005 | 108 | 2005 |
Genomic rearrangements of the APC tumor-suppressor gene in familial adenomatous polyposis LK Su, G Steinbach, JC Sawyer, M Hindi, PA Ward, PM Lynch Human genetics 106, 101-107, 2000 | 105 | 2000 |