| 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 | 2226 | 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 | 1464 | 2014 |
| Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster T Sahoo, D Del Gaudio, JR German, M Shinawi, SU Peters, RE Person, ... Nature genetics 40 (6), 719-721, 2008 | 669 | 2008 |
| Mutations in the gene encoding neutrophil elastase in congenital and cyclic neutropenia DC Dale, RE Person, AA Bolyard, AG Aprikyan, C Bos, MA Bonilla, ... Blood, The Journal of the American Society of Hematology 96 (7), 2317-2322, 2000 | 662 | 2000 |
| Mutations in ELA2, encoding neutrophil elastase, define a 21-day biological clock in cyclic haematopoiesis M Horwitz, KF Benson, RE Person, AG Aprikyan, DC Dale Nature genetics 23 (4), 433-436, 1999 | 541 | 1999 |
| Mutations in proto-oncogene GFI1 cause human neutropenia and target ELA2 RE Person, FQ Li, Z Duan, KF Benson, J Wechsler, HA Papadaki, ... Nature genetics 34 (3), 308-312, 2003 | 441 | 2003 |
| Paternally inherited microdeletion at 15q11. 2 confirms a significant role for the SNORD116 C/D box snoRNA cluster in Prader–Willi syndrome AL Duker, BC Ballif, EV Bawle, RE Person, S Mahadevan, S Alliman, ... European Journal of Human Genetics 18 (11), 1196-1201, 2010 | 344 | 2010 |
| Molecular diagnostic experience of whole-exome sequencing in adult patients JE Posey, JA Rosenfeld, RA James, M Bainbridge, Z Niu, X Wang, S Dhar, ... Genetics in Medicine 18 (7), 678-685, 2016 | 225 | 2016 |
| Mutations associated with neutropenia in dogs and humans disrupt intracellular transport of neutrophil elastase KF Benson, FQ Li, RE Person, D Albani, Z Duan, J Wechsler, ... Nature genetics 35 (1), 90-96, 2003 | 215 | 2003 |
| Non-syndromic progressive hearing loss DFNA38 is caused by heterozygous missense mutation in the Wolfram syndrome gene WFS1 TL Young, E Ives, E Lynch, R Person, S Snook, L MacLaren, T Cator, ... Human molecular genetics 10 (22), 2509-2514, 2001 | 202 | 2001 |
| Ube3a-ATS is an atypical RNA polymerase II transcript that represses the paternal expression of Ube3a L Meng, RE Person, AL Beaudet Human molecular genetics 21 (13), 3001-3012, 2012 | 198 | 2012 |
| AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders V Salpietro, CL Dixon, H Guo, OD Bello, J Vandrovcova, S Efthymiou, ... Nature communications 10 (1), 3094, 2019 | 187 | 2019 |
| Truncation of Ube3a-ATS Unsilences Paternal Ube3a and Ameliorates Behavioral Defects in the Angelman Syndrome Mouse Model L Meng, RE Person, W Huang, PJ Zhu, M Costa-Mattioli, AL Beaudet PLoS genetics 9 (12), e1004039, 2013 | 163 | 2013 |
| Monogenic variants in dystonia: an exome-wide sequencing study M Zech, R Jech, S Boesch, M Škorvánek, S Weber, M Wagner, C Zhao, ... The Lancet Neurology 19 (11), 908-918, 2020 | 158 | 2020 |
| A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism PBS Celestino-Soper, S Violante, EL Crawford, R Luo, AC Lionel, ... Proceedings of the National Academy of Sciences 109 (21), 7974-7981, 2012 | 154 | 2012 |
| Structures and molecular mechanisms for common 15q13.3 microduplications involving CHRNA7: benign or pathological? P Szafranski, CP Schaaf, RE Person, IB Gibson, Z Xia, S Mahadevan, ... Human mutation 31 (7), 840-850, 2010 | 142 | 2010 |
| Small noncoding differentially methylated copy-number variants, including lncRNA genes, cause a lethal lung developmental disorder P Szafranski, AV Dharmadhikari, E Brosens, P Gurha, KE Kołodziejska, ... Genome research 23 (1), 23-33, 2013 | 138 | 2013 |
| Epigenetic regulation of protein-coding and microRNA genes by the Gfi1-interacting tumor suppressor PRDM5 Z Duan, RE Person, HH Lee, S Huang, J Donadieu, R Badolato, ... Molecular and cellular biology 27 (19), 6889-6902, 2007 | 109 | 2007 |
| Loss-of-function and gain-of-function mutations in KCNQ5 cause intellectual disability or epileptic encephalopathy A Lehman, S Thouta, GMS Mancini, S Naidu, M van Slegtenhorst, ... The American Journal of Human Genetics 101 (1), 65-74, 2017 | 108 | 2017 |
| Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31. 3 microdeletion syndrome SR Lalani, J Zhang, CP Schaaf, CW Brown, P Magoulas, ACH Tsai, ... The American Journal of Human Genetics 95 (5), 579-583, 2014 | 108 | 2014 |
