Prati
David H. Ledbetter, PhD, FACMG
David H. Ledbetter, PhD, FACMG
Professor, University of Florida College of Medicine-Jacksonville
Potvrđena adresa e-pošte na jax.ufl.edu
Naslov
Citirano
Citirano
Godina
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
34542007
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
31642010
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
29241989
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
23512013
Multicolor spectral karyotyping of human chromosomes
E Schröck, S Du Manoir, T Veldman, B Schoell, J Wienberg, ...
Science 273 (5274), 494-497, 1996
22291996
Mapping autism risk loci using genetic linkage and chromosomal rearrangements
Nature genetics 39 (3), 319-328, 2007
16542007
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
15362012
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
14932015
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
14852011
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
11902015
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
11811993
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
10202008
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
9142014
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
8071989
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
7872017
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
7741981
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
6351998
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
6182013
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
5701989
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
5661988
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