David H Ledbetter
David H Ledbetter
EVP & Chief Scientific Officer, Geisinger
Email verificata su geisinger.edu
Titolo
Citata da
Citata da
Anno
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
27502007
Chromosome 17 deletions and p53 gene mutations in colorectal carcinomas
SJ Baker, ER Fearon, JM Nigro, AC Preisinger, JM Jessup, DH Ledbetter, ...
Science 244 (4901), 217-221, 1989
24551989
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
21022010
Multicolor spectral karyotyping of human chromosomes
E Schr÷ck, S Du Manoir, T Veldman, B Schoell, J Wienberg, ...
Science 273 (5274), 494-497, 1996
20201996
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
15622013
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, 2007
13942007
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
11112011
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
10101993
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
8712012
Linkage, association, and gene-expression analyses identify CNTNAP2 as an autism-susceptibility gene
M Alarcˇn, BS Abrahams, JL Stone, JA Duvall, JV Perederiy, JM Bomar, ...
The American Journal of Human Genetics 82 (1), 150-159, 2008
8252008
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 RamÝrez-Solis, ...
Proceedings of the National Academy of Sciences 86 (17), 6686-6690, 1989
7281989
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
7052015
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
6941981
The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data
S K÷hler, SC Doelken, CJ Mungall, S Bauer, HV Firth, I Bailleul-Forestier, ...
Nucleic acids research 42 (D1), D966-D974, 2014
6912014
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
5561998
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
5261989
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
5041988
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
4962015
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
4352013
Deletions of a differentially methylated CpG island at the SNRPN gene define a putative imprinting control region
JS Sutcliffe, M Nakao, S Christian, KH Írstavik, N Tommerup, ...
Nature genetics 8 (1), 52-58, 1994
4311994
Il sistema al momento non pu˛ eseguire l'operazione. Riprova pi¨ tardi.
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