| Strong association of de novo copy number mutations with autism J Sebat, B Lakshmi, D Malhotra, J Troge, C Lese-Martin, T Walsh, ... Science 316 (5823), 445-449, 2007 | 3484 | 2007 |
| 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 | 3217 | 2010 |
| CORRIGENDUM: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing RC Green, JS Berg, WW Grody, SS Kalia, BR Korf, CL Martin, AL McGuire, ... Genetics in Medicine 19 (5), 606, 2017 | 2787* | 2017 |
| ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing RC Green, JS Berg, WW Grody, SS Kalia, BR Korf, CL Martin, AL McGuire, ... Genetics in Medicine 15 (7), 565-574, 2013 | 2771 | 2013 |
| Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs SH Lee, S Ripke, BM Neale, SV Faraone, SM Purcell, RH Perlis, ... Nature genetics 45 (9), 984, 2013 | 2382 | 2013 |
| 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 (4), 484-485, 2017 | 1757* | 2017 |
| 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, 2017 | 1751 | 2017 |
| Mapping autism risk loci using genetic linkage and chromosomal rearrangements P Szatmari, AD Paterson, L Zwaigenbaum, W Roberts, J Brian, XQ Liu, ... Nature genetics 39 (3), 319-328, 2007 | 1664* | 2007 |
| Chromosomal microarray versus karyotyping for prenatal diagnosis RJ Wapner, CL Martin, B Levy, BC Ballif, CM Eng, JM Zachary, M Savage, ... Obstetrical & Gynecological Survey 68 (4), 276-278, 2013 | 1563 | 2013 |
| Chromosomal microarray versus karyotyping for prenatal diagnosis RJ Wapner, CL Martin, B Levy, BC Ballif, CM Eng, JM Zachary, M Savage, ... New England Journal of Medicine 367 (23), 2175-2184, 2012 | 1563 | 2012 |
| Multiple recurrent de novo copy number variations (CNVs), including duplications of the 7q11. 23 Williams-Beuren syndrome region, are strongly associated with autism SJ Sanders, AG Ercan-Sencicek, V Hus, R Luo, MT Murtha, ... Neuron 70 (5), 863, 2011 | 1529* | 2011 |
| Insights into autism spectrum disorder genomic architecture and biology from 71 risk loci SJ Sanders, X He, AJ Willsey, AG Ercan-Sencicek, KE Samocha, ... Neuron 87 (6), 1215-1233, 2015 | 1527 | 2015 |
| ClinGen—The Clinical Genome Resource HL Rehm, JS Berg, LD Brooks, CD Bustamante, JP Evans, MJ Landrum, ... New England Journal of Medicine, 2015 | 1239 | 2015 |
| Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics … ER Riggs, EF Andersen, AM Cherry, S Kantarci, H Kearney, A Patel, ... Genetics in Medicine 22 (2), 245-257, 2020 | 1191 | 2020 |
| Linkage, Association, and Gene-Expression Analyses Identify< i> CNTNAP2</i> as an Autism-Susceptibility Gene M Alarcón, BS Abrahams, JL Stone, JA Duvall, JV Perederiy, JM Bomar, ... The American Journal of Human Genetics 82 (1), 150-159, 2008 | 1029 | 2008 |
| The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data S Köhler, SC Doelken, CJ Mungall, S Bauer, HV Firth, I Bailleul-Forestier, ... Nucleic acids research 42 (D1), D966-D974, 2014 | 923 | 2014 |
| Psychiatric genome-wide association study analyses implicate neuronal, immune and histone pathways C O'Dushlaine, L Rossin, PH Lee, L Duncan, NN Parikshak, S Newhouse, ... Nature neuroscience 18 (2), 199, 2015 | 526 | 2015 |
| 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, 1, 2019 | 516 | 2019 |
| An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities EB Kaminsky, V Kaul, J Paschall, DM Church, B Bunke, D Kunig, ... Genetics in medicine 13 (9), 777-784, 2011 | 511 | 2011 |
| Evaluating the clinical validity of gene-disease associations: an evidence-based framework developed by the clinical genome resource NT Strande, ER Riggs, AH Buchanan, O Ceyhan-Birsoy, M DiStefano, ... The American Journal of Human Genetics 100 (6), 895-906, 2017 | 493 | 2017 |
David H. Ledbetter, PhD, FACMGProfessor, University of Florida College of Medicine-JacksonvilleVerified email at jax.ufl.edu
