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David R Adams
David R Adams
Senior Clinician, National Human Genome Institute, NIH
Geverifieerd e-mailadres voor nih.gov - Homepage
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Guidelines for investigating causality of sequence variants in human disease
DG MacArthur, TA Manolio, DP Dimmock, HL Rehm, J Shendure, ...
Nature 508 (7497), 469-476, 2014
14462014
Effect of genetic diagnosis on patients with previously undiagnosed disease
K Splinter, DR Adams, CA Bacino, HJ Bellen, JA Bernstein, ...
New england journal of medicine 379 (22), 2131-2139, 2018
3622018
The national institutes of health undiagnosed diseases program: insights into rare diseases
WA Gahl, TC Markello, C Toro, KF Fajardo, M Sincan, F Gill, ...
Genetics in medicine 14 (1), 51-59, 2012
3302012
Genes that affect brain structure and function identified by rare variant analyses of Mendelian neurologic disease
E Karaca, T Harel, D Pehlivan, SN Jhangiani, T Gambin, ZC Akdemir, ...
Neuron 88 (3), 499-513, 2015
3252015
GRIN2A mutation and early‐onset epileptic encephalopathy: personalized therapy with memantine
TM Pierson, H Yuan, ED Marsh, K Fuentes‐Fajardo, DR Adams, ...
Annals of clinical and translational neurology 1 (3), 190-198, 2014
2952014
Next-generation sequencing to diagnose suspected genetic disorders
DR Adams, CM Eng
New England Journal of Medicine 379 (14), 1353-1362, 2018
2662018
A polymorphism in IRF4 affects human pigmentation through a tyrosinase-dependent MITF/TFAP2A pathway
C Praetorius, C Grill, SN Stacey, AM Metcalf, DU Gorkin, KC Robinson, ...
Cell 155 (5), 1022-1033, 2013
2472013
Sialin (SLC17A5) functions as a nitrate transporter in the plasma membrane
L Qin, X Liu, Q Sun, Z Fan, D Xia, G Ding, HL Ong, D Adams, WA Gahl, ...
Proceedings of the National Academy of Sciences 109 (33), 13434-13439, 2012
2212012
Whole-Exome Sequencing Identifies Homozygous AFG3L2 Mutations in a Spastic Ataxia-Neuropathy Syndrome Linked to Mitochondrial m-AAA Proteases
TM Pierson, D Adams, F Bonn, P Martinelli, PF Cherukuri, JK Teer, ...
PLoS genetics 7 (10), e1002325, 2011
2212011
Detecting false‐positive signals in exome sequencing
KV Fuentes Fajardo, D Adams, NISC Comparative Sequencing Program, ...
Human mutation 33 (4), 609-613, 2012
1972012
MARRVEL: integration of human and model organism genetic resources to facilitate functional annotation of the human genome
J Wang, R Al-Ouran, Y Hu, SY Kim, YW Wan, MF Wangler, S Yamamoto, ...
The American Journal of Human Genetics 100 (6), 843-853, 2017
1932017
1, 25-(OH) 2D-24 hydroxylase (CYP24A1) deficiency as a cause of nephrolithiasis
G Nesterova, MC Malicdan, K Yasuda, T Sakaki, T Vilboux, C Ciccone, ...
Clinical Journal of the American Society of Nephrology 8 (4), 649-657, 2013
1842013
Mechanistic insight into NMDA receptor dysregulation by rare variants in the GluN2A and GluN2B agonist binding domains
SA Swanger, W Chen, G Wells, PB Burger, A Tankovic, S Bhattacharya, ...
The American Journal of Human Genetics 99 (6), 1261-1280, 2016
1782016
The surgical safety checklist and patient outcomes after surgery: a prospective observational cohort study, systematic review and meta-analysis
TEF Abbott, T Ahmad, MK Phull, AJ Fowler, R Hewson, BM Biccard, ...
British journal of anaesthesia 120 (1), 146-155, 2018
1762018
The undiagnosed diseases network: accelerating discovery about health and disease
RB Ramoni, JJ Mulvihill, DR Adams, P Allard, EA Ashley, JA Bernstein, ...
The American Journal of Human Genetics 100 (2), 185-192, 2017
1732017
The NIH undiagnosed diseases program and network: applications to modern medicine
WA Gahl, JJ Mulvihill, C Toro, TC Markello, AL Wise, RB Ramoni, ...
Molecular genetics and metabolism 117 (4), 393-400, 2016
1712016
Functional analysis of a de novo GRIN2A missense mutation associated with early-onset epileptic encephalopathy
H Yuan, KB Hansen, J Zhang, T Mark Pierson, TC Markello, KVF Fajardo, ...
Nature communications 5 (1), 3251, 2014
1582014
Glycosylation, hypogammaglobulinemia, and resistance to viral infections
MA Sadat, S Moir, TW Chun, P Lusso, G Kaplan, L Wolfe, MJ Memoli, ...
New England Journal of Medicine 370 (17), 1615-1625, 2014
1522014
DNA variations in oculocutaneous albinism: an updated mutation list and current outstanding issues in molecular diagnostics
DR Simeonov, X Wang, C Wang, Y Sergeev, M Dolinska, M Bower, ...
Human mutation 34 (6), 827-835, 2013
1522013
PhenomeCentral: a portal for phenotypic and genotypic matchmaking of patients with rare genetic diseases
OJ Buske, M Girdea, S Dumitriu, B Gallinger, T Hartley, H Trang, ...
Human mutation 36 (10), 931-940, 2015
1422015
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