Články se zplnomocněním k veřejnému přístupu - David H. Ledbetter, PhD, FACMGDalší informace
Nedostupné nikde: 2
Autism spectrum disorder, developmental and psychiatric features in 16p11. 2 duplication
LA Green Snyder, D D’Angelo, Q Chen, R Bernier, RP Goin-Kochel, ...
Journal of autism and developmental disorders 46, 2734-2748, 2016
Zplnomocnění: US National Institutes of Health
A de novo loss-of-function mutation in PAFAH1B1 identified in a single case with agyria–pachygyria complex
Y Ou, B Xiang, L Yang, W Chen, X Chen, T Cai
Journal of Pediatric Neurology 18 (01), 033-038, 2020
Zplnomocnění: US National Institutes of Health
Dostupné někde: 92
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
Zplnomocnění: US National Institutes of Health, Howard Hughes Medical Institute
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
Zplnomocnění: US National Institutes of Health, Australian Research Council, National …
Mapping autism risk loci using genetic linkage and chromosomal rearrangements
Nature genetics 39 (3), 319-328, 2007
Zplnomocnění: Genome Canada, German Research Foundation
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
Zplnomocnění: US National Institutes of Health
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
Zplnomocnění: US National Institutes of Health, Howard Hughes Medical Institute, Canadian …
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
Zplnomocnění: US National Institutes of Health, Howard Hughes Medical Institute
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
Zplnomocnění: US National Institutes of Health
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
Zplnomocnění: US National Institutes of Health, German Research Foundation, British Heart …
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
Zplnomocnění: US National Institutes of Health
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
Zplnomocnění: US National Institutes of Health
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
Zplnomocnění: US National Institutes of Health, National Institute for Health Research, UK
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 21 (11), 2413-2421, 2019
Zplnomocnění: US National Institutes of Health
Clinical Genetic Testing for Familial Hypercholesterolemia: JACC Scientific Expert Panel
AC Sturm, JW Knowles, SS Gidding, ZS Ahmad, CD Ahmed, ...
Journal of the American College of Cardiology 72 (6), 662-680, 2018
Zplnomocnění: US National Institutes of Health, American Heart Association, Doris Duke …
Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24. 32 and a significant overlap with schizophrenia
Molecular autism 8, 1-17, 2017
Zplnomocnění: US Department of Energy, US National Institutes of Health, Howard Hughes …
Feasibility of blood testing combined with PET-CT to screen for cancer and guide intervention
AM Lennon, AH Buchanan, I Kinde, A Warren, A Honushefsky, AT Cohain, ...
Science 369 (6499), eabb9601, 2020
Zplnomocnění: US National Institutes of Health, Wellcome Trust
Inactivating Variants in ANGPTL4 and Risk of Coronary Artery Disease
FE Dewey, V Gusarova, C O’Dushlaine, O Gottesman, J Trejos, C Hunt, ...
New England Journal of Medicine 374 (12), 1123-1133, 2016
Zplnomocnění: US National Institutes of Health
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
Zplnomocnění: US National Institutes of Health
Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders
DJ Weiner, EM Wigdor, S Ripke, RK Walters, JA Kosmicki, J Grove, ...
Nature genetics 49 (7), 978-985, 2017
Zplnomocnění: US National Institutes of Health, UK Medical Research Council, European …
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