| 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 | 3431 | 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 | 3128 | 2010 |
| Chromosome 17 deletions and p53 gene mutations in colorectal carcinomas SJ Baker, ER Fearon, JM Nigro, SR Hamilton, AC Preisinger, JM Jessup, ... Science 244 (4901), 217-221, 1989 | 2917 | 1989 |
| Multicolor spectral karyotyping of human chromosomes E Schröck, S Du Manoir, T Veldman, B Schoell, J Wienberg, ... Science 273 (5274), 494-497, 1996 | 2224 | 1996 |
| Mapping autism risk loci using genetic linkage and chromosomal rearrangements Nature genetics 39 (3), 319-328, 2007 | 1649 | 2007 |
| 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 | 1493 | 2012 |
| Multiple recurrent de novo CNVs, including duplications of the 7q11. 23 Williams syndrome region, are strongly associated with autism SJ Sanders, AG Ercan-Sencicek, V Hus, R Luo, MT Murtha, ... Neuron 70 (5), 863-885, 2011 | 1472 | 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 | 1458 | 2015 |
| Isolation of a Miller–Dicker lissencephaly gene containing G protein β-subunit-like repeats O Reiner, R Carrozzo, Y Shen, M Wehnert, F Faustinella, WB Dobyns, ... Nature 364 (6439), 717-721, 1993 | 1177 | 1993 |
| ClinGen—the clinical genome resource HL Rehm, JS Berg, LD Brooks, CD Bustamante, JP Evans, MJ Landrum, ... New England Journal of Medicine 372 (23), 2235-2242, 2015 | 1154 | 2015 |
| Linkage, association, and gene-expression analyses identify CNTNAP2 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 | 1002 | 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 | 912 | 2014 |
| Alu polymerase chain reaction: a method for rapid isolation of human-specific sequences from complex DNA sources. DL Nelson, SA Ledbetter, L Corbo, MF Victoria, R Ramírez-Solis, ... Proceedings of the National Academy of Sciences 86 (17), 6686-6690, 1989 | 811 | 1989 |
| Deletions of chromosome 15 as a cause of the Prader–Willi syndrome DH Ledbetter, VM Riccardi, SD Airhart, RJ Strobel, BS Keenan, ... New England Journal of Medicine 304 (6), 325-329, 1981 | 768 | 1981 |
| Genetic and pharmacologic inactivation of ANGPTL3 and cardiovascular disease FE Dewey, V Gusarova, RL Dunbar, C O’Dushlaine, C Schurmann, ... New England Journal of Medicine 377 (3), 211-221, 2017 | 757 | 2017 |
| Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs B Devlin, JR Kelsoe, P Sklar, MJ Daly, MC O'Donovan, N Craddock, ... Nature genetics 45 (9), 984-994, 2013 | 753 | 2013 |
| Graded reduction of Pafah1b1 (Lis1) activity results in neuronal migration defects and early embryonic lethality S Hirotsune, MW Fleck, MJ Gambello, GJ Bix, A Chen, GD Clark, ... Nature genetics 19 (4), 333-339, 1998 | 633 | 1998 |
| Implementing genomic medicine in the clinic: the future is here TA Manolio, RL Chisholm, B Ozenberger, DM Roden, MS Williams, ... Genetics in Medicine 15 (4), 258-267, 2013 | 601 | 2013 |
| The safety and efficacy of chorionic villus sampling for early prenatal diagnosis of cytogenetic abnormalities GG Rhoads, LG Jackson, SE Schlesselman, FF de la Cruz, RJ Desnick, ... New England journal of medicine 320 (10), 609-617, 1989 | 568 | 1989 |
| Uniparental disomy as a mechanism for human genetic disease. JE Spence, RG Perciaccante, GM Greig, HF Willard, DH Ledbetter, ... American journal of human genetics 42 (2), 217, 1988 | 566 | 1988 |
Christa Lese MartinChief Scientific Officer, Geisinger; Professor and Director, Autism & DevelopmentalEmail verificata su geisinger.edu
