Sledovat
David H. Ledbetter, PhD, FACMG
David H. Ledbetter, PhD, FACMG
Professor, Institute for Pediatric Rare Diseases, Florida State University College of Medicine
E-mailová adresa ověřena na: med.fsu.edu
Název
Citace
Citace
Rok
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
35302007
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
32622010
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
29541989
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
24212013
Multicolor spectral karyotyping of human chromosomes
E Schröck, S Du Manoir, T Veldman, B Schoell, J Wienberg, ...
Science 273 (5274), 494-497, 1996
22391996
Mapping autism risk loci using genetic linkage and chromosomal rearrangements
Nature genetics 39 (3), 319-328, 2007
16442007
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
16252012
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
15772015
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
15352011
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
13502015
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
11991993
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
10452008
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
9472014
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
8342017
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
8021989
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
7901981
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
6442013
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
6441998
Psychiatric genome-wide association study analyses implicate neuronal, immune and histone pathways
B Devlin, JR Kelsoe, P Sklar, MJ Daly, MC O'Donovan, N Craddock, ...
Nature neuroscience 18 (2), 199-209, 2015
6252015
Distribution and clinical impact of functional variants in 50,726 whole-exome sequences from the DiscovEHR study
FE Dewey, MF Murray, JD Overton, L Habegger, JB Leader, SN Fetterolf, ...
Science 354 (6319), aaf6814, 2016
5832016
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Články 1–20