| Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies DT Miller, MP Adam, S Aradhya, LG Biesecker, AR Brothman, NP Carter, ... The American Journal of Human Genetics 86 (5), 749-764, 2010 | 3157 | 2010 |
| Association between microdeletion and microduplication at 16p11. 2 and autism LA Weiss, Y Shen, JM Korn, DE Arking, DT Miller, R Fossdal, ... New England Journal of Medicine 358 (7), 667-675, 2008 | 1953 | 2008 |
| Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2. 0): a policy statement of the American College of Medical … SS Kalia, K Adelman, SJ Bale, WK Chung, C Eng, JP Evans, GE Herman, ... Genetics in medicine 19 (2), 249-255, 2017 | 1723 | 2017 |
| Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders S Srivastava, JA Love-Nichols, KA Dies, DH Ledbetter, CL Martin, ... Genetics in Medicine 21 (11), 2413-2421, 2019 | 476 | 2019 |
| ACMG SF v3. 0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of the American College of Medical Genetics and Genomics (ACMG) DT Miller, K Lee, WK Chung, AS Gordon, GE Herman, TE Klein, ... Genetics in medicine 23 (8), 1381-1390, 2021 | 460 | 2021 |
| Clinical genetic testing for patients with autism spectrum disorders Y Shen, KA Dies, IA Holm, C Bridgemohan, MM Sobeih, EB Caronna, ... Pediatrics 125 (4), e727-e735, 2010 | 436 | 2010 |
| Clinical trial of a farnesyltransferase inhibitor in children with Hutchinson–Gilford progeria syndrome LB Gordon, ME Kleinman, DT Miller, DS Neuberg, A Giobbie-Hurder, ... Proceedings of the National Academy of Sciences 109 (41), 16666-16671, 2012 | 414 | 2012 |
| Microdeletion/duplication at 15q13. 2q13. 3 among individuals with features of autism and other neuropsychiatric disorders DT Miller, Y Shen, LA Weiss, J Korn, I Anselm, C Bridgemohan, GF Cox, ... Journal of medical genetics 46 (4), 242-248, 2009 | 388 | 2009 |
| Deletions of NRXN1 (neurexin‐1) predispose to a wide spectrum of developmental disorders MSL Ching, Y Shen, WH Tan, SS Jeste, EM Morrow, X Chen, ... American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 153 …, 2010 | 347 | 2010 |
| Association of Common CRP Gene Variants with CRP Levels and Cardiovascular Events DT Miller, RYL Zee, J Suk Danik, P Kozlowski, DI Chasman, R Lazarus, ... Annals of human genetics 69 (6), 623-638, 2005 | 280 | 2005 |
| Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11. 23 Williams-Beuren syndrome region JS Berg, N Brunetti-Pierri, SU Peters, SHL Kang, CT Fong, J Salamone, ... Genetics in Medicine 9 (7), 427-441, 2007 | 270 | 2007 |
| Microarray‐based CGH detects chromosomal mosaicism not revealed by conventional cytogenetics SW Cheung, CA Shaw, DA Scott, A Patel, T Sahoo, CA Bacino, A Pursley, ... American journal of medical genetics Part A 143 (15), 1679-1686, 2007 | 254 | 2007 |
| Microduplications of 22q11. 2 are frequently inherited and are associated with variable phenotypes Z Ou, JS Berg, H Yonath, VB Enciso, DT Miller, J Picker, T Lenzi, ... Genetics in Medicine 10 (4), 267-277, 2008 | 212 | 2008 |
| Copy number variation plays an important role in clinical epilepsy H Olson, Y Shen, J Avallone, BR Sheidley, R Pinsky, AM Bergin, GT Berry, ... Annals of neurology 75 (6), 943-958, 2014 | 211 | 2014 |
| The adult galactosemic phenotype SE Waisbren, NL Potter, CM Gordon, RC Green, P Greenstein, ... Journal of Inherited Metabolic Disease: Official Journal of the Society for …, 2012 | 201 | 2012 |
| Genotype-phenotype correlation in NF1: evidence for a more severe phenotype associated with missense mutations affecting NF1 codons 844–848 M Koczkowska, Y Chen, T Callens, A Gomes, A Sharp, S Johnson, ... The American Journal of Human Genetics 102 (1), 69-87, 2018 | 199 | 2018 |
| Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2021 update: a policy statement of the American College of Medical Genetics and … DT Miller, K Lee, AS Gordon, LM Amendola, K Adelman, SJ Bale, ... Genetics in Medicine 23 (8), 1391-1398, 2021 | 195 | 2021 |
| Health supervision for children with neurofibromatosis type 1 DT Miller, D Freedenberg, E Schorry, NJ Ullrich, D Viskochil, BR Korf, ... Pediatrics 143 (5), 2019 | 193 | 2019 |
| Exploring concordance and discordance for return of incidental findings from clinical sequencing RC Green, JS Berg, GT Berry, LG Biesecker, DP Dimmock, JP Evans, ... Genetics in Medicine 14 (4), 405-410, 2012 | 180 | 2012 |
| Clinical trial of the protein farnesylation inhibitors lonafarnib, pravastatin, and zoledronic acid in children with Hutchinson-Gilford progeria syndrome LB Gordon, ME Kleinman, J Massaro, RB D’Agostino Sr, H Shappell, ... Circulation 134 (2), 114-125, 2016 | 167 | 2016 |
Christa Lese MartinChief Scientific Officer, Geisinger; Professor and Director, Autism & Developmental在 geisinger.edu 的电子邮件经过验证
