| 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 | 3262 | 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 | 1994 | 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 | 1781 | 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 | 573 | 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 | 523 | 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 | 452 | 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 | 431 | 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 | 406 | 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 | 349 | 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 | 288 | 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 | 271 | 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 | 266 | 2007 |
| Health supervision for children with neurofibromatosis type 1 DT Miller, D Freedenberg, E Schorry, NJ Ullrich, D Viskochil, BR Korf, ... Pediatrics 143 (5), 2019 | 237 | 2019 |
| 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 | 234 | 2021 |
| 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 | 225 | 2018 |
| 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 | 221 | 2014 |
| 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 | 217 | 2008 |
| ACMG SF v3. 1 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, NS Abul-Husn, LM Amendola, K Brothers, WK Chung, ... Genetics in Medicine 24 (7), 1407-1414, 2022 | 212 | 2022 |
| 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 | 211 | 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 | 179 | 2016 |
Christa Lese MartinChief Scientific Officer, Geisinger; Professor and Director, Autism & Developmentalgeisinger.edu üzerinde doğrulanmış e-posta adresine sahip