David R. Adams - Publications

National Human Genome Research Institute, USA 

22 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2015 Guzman J, Lee E, Draper D, Valivullah Z, Yu G, Sincan M, Gahl WA, Adams DR. The Undiagnosed Diseases Program Integrated Collaboration System (UDPICS): One Program's Experience Developing Custom Software to Support Research for Complex-Disease Families. Children (Basel, Switzerland). 2: 342-57. PMID 27417368 DOI: 10.3390/children2030342  0.44
2015 Buske OJ, Girdea M, Dumitriu S, Gallinger B, Hartley T, Trang H, Misyura A, Friedman T, Beaulieu C, Bone WP, Links AE, Washington NL, Haendel MA, Robinson PN, Boerkoel CF, ... Adams D, et al. PhenomeCentral: A Portal for Phenotypic and Genotypic Matchmaking of Patients with Rare Genetic Diseases. Human Mutation. PMID 26251998 DOI: 10.1002/Humu.22851  0.52
2015 Lam C, Golas GA, Davids M, Huizing M, Kane MS, Krasnewich DM, Malicdan MC, Adams DR, Markello TC, Zein WM, Gropman AL, Lodish MB, Stratakis CA, Maric I, Rosenzweig SD, et al. Expanding the clinical and molecular characteristics of PIGT-CDG, a disorder of glycosylphosphatidylinositol anchors. Molecular Genetics and Metabolism. 115: 128-40. PMID 25943031 DOI: 10.1016/J.Ymgme.2015.04.007  0.52
2015 Albert JS, Bhattacharyya N, Wolfe LA, Bone WP, Maduro V, Accardi J, Adams DR, Schwartz CE, Norris J, Wood T, Gafni RI, Collins MT, Tosi LL, Markello TC, Gahl WA, et al. Impaired osteoblast and osteoclast function characterize the osteoporosis of Snyder - Robinson syndrome. Orphanet Journal of Rare Diseases. 10: 27. PMID 25888122 DOI: 10.1186/s13023-015-0235-8  0.52
2015 Baker EH, Sloan JL, Hauser NS, Gropman AL, Adams DR, Toro C, Manoli I, Venditti CP. MRI characteristics of globus pallidus infarcts in isolated methylmalonic acidemia. Ajnr. American Journal of Neuroradiology. 36: 194-201. PMID 25190203 DOI: 10.3174/Ajnr.A4087  0.52
2014 Tifft CJ, Adams DR. The National Institutes of Health undiagnosed diseases program. Current Opinion in Pediatrics. 26: 626-33. PMID 25313974 DOI: 10.1097/MOP.0000000000000155  0.44
2014 Adams DR, Yuan H, Holyoak T, Arajs KH, Hakimi P, Markello TC, Wolfe LA, Vilboux T, Burton BK, Fajardo KF, Grahame G, Holloman C, Sincan M, Smith AC, Wells GA, et al. Three rare diseases in one Sib pair: RAI1, PCK1, GRIN2B mutations associated with Smith-Magenis Syndrome, cytosolic PEPCK deficiency and NMDA receptor glutamate insensitivity. Molecular Genetics and Metabolism. 113: 161-70. PMID 24863970 DOI: 10.1016/J.Ymgme.2014.04.001  0.52
2014 Pierson TM, Yuan H, Marsh ED, Fuentes-Fajardo K, Adams DR, Markello T, Golas G, Simeonov DR, Holloman C, Tankovic A, Karamchandani MM, Schreiber JM, Mullikin JC, Tifft CJ, et al. GRIN2A mutation and early-onset epileptic encephalopathy: personalized therapy with memantine. Annals of Clinical and Translational Neurology. 1: 190-198. PMID 24839611 DOI: 10.1002/Acn3.39  0.48
2014 Lawrence L, Sincan M, Markello T, Adams DR, Gill F, Godfrey R, Golas G, Groden C, Landis D, Nehrebecky M, Park G, Soldatos A, Tifft C, Toro C, Wahl C, et al. The implications of familial incidental findings from exome sequencing: the NIH Undiagnosed Diseases Program experience. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 16: 741-50. PMID 24784157 DOI: 10.1038/gim.2014.29  0.44
2014 MacArthur DG, Manolio TA, Dimmock DP, Rehm HL, Shendure J, Abecasis GR, Adams DR, Altman RB, Antonarakis SE, Ashley EA, Barrett JC, Biesecker LG, Conrad DF, Cooper GM, Cox NJ, et al. Guidelines for investigating causality of sequence variants in human disease. Nature. 508: 469-76. PMID 24759409 DOI: 10.1038/Nature13127  0.52
2014 Sadat MA, Moir S, Chun TW, Lusso P, Kaplan G, Wolfe L, Memoli MJ, He M, Vega H, Kim LJ, Huang Y, Hussein N, Nievas E, Mitchell R, Garofalo M, ... ... Adams D, et al. Glycosylation, hypogammaglobulinemia, and resistance to viral infections. The New England Journal of Medicine. 370: 1615-25. PMID 24716661 DOI: 10.1056/Nejmoa1302846  0.52
2014 Yuan H, Hansen KB, Zhang J, Pierson TM, Markello TC, Fajardo KV, Holloman CM, Golas G, Adams DR, Boerkoel CF, Gahl WA, Traynelis SF. Functional analysis of a de novo GRIN2A missense mutation associated with early-onset epileptic encephalopathy. Nature Communications. 5: 3251. PMID 24504326 DOI: 10.1038/Ncomms4251  0.52
2013 Markello TC, Adams DR. Genome-scale sequencing to identify genes involved in Mendelian disorders. Current Protocols in Human Genetics / Editorial Board, Jonathan L. Haines ... [Et Al.]. 79: Unit 6.13.. PMID 24510651 DOI: 10.1002/0471142905.hg0613s79  0.52
2013 Praetorius C, Grill C, Stacey SN, Metcalf AM, Gorkin DU, Robinson KC, Van Otterloo E, Kim RS, Bergsteinsdottir K, Ogmundsdottir MH, Magnusdottir E, Mishra PJ, Davis SR, Guo T, Zaidi MR, ... ... Adams DR, et al. A polymorphism in IRF4 affects human pigmentation through a tyrosinase-dependent MITF/TFAP2A pathway. Cell. 155: 1022-33. PMID 24267888 DOI: 10.1016/J.Cell.2013.10.022  0.52
2013 Simeonov DR, Wang X, Wang C, Sergeev Y, Dolinska M, Bower M, Fischer R, Winer D, Dubrovsky G, Balog JZ, Huizing M, Hart R, Zein WM, Gahl WA, Brooks BP, ... Adams DR, et al. DNA variations in oculocutaneous albinism: an updated mutation list and current outstanding issues in molecular diagnostics. Human Mutation. 34: 827-35. PMID 23504663 DOI: 10.1002/humu.22315  0.44
2012 Dias C, Sincan M, Cherukuri PF, Rupps R, Huang Y, Briemberg H, Selby K, Mullikin JC, Markello TC, Adams DR, Gahl WA, Boerkoel CF. An analysis of exome sequencing for diagnostic testing of the genes associated with muscle disease and spastic paraplegia. Human Mutation. 33: 614-26. PMID 22311686 DOI: 10.1002/humu.22032  0.52
2012 Adams DR, Sincan M, Fuentes Fajardo K, Mullikin JC, Pierson TM, Toro C, Boerkoel CF, Tifft CJ, Gahl WA, Markello TC. Analysis of DNA sequence variants detected by high-throughput sequencing. Human Mutation. 33: 599-608. PMID 22290882 DOI: 10.1002/humu.22035  0.52
2012 Markello TC, Han T, Carlson-Donohoe H, Ahaghotu C, Harper U, Jones M, Chandrasekharappa S, Anikster Y, Adams DR, Gahl WA, Boerkoel CF. Recombination mapping using Boolean logic and high-density SNP genotyping for exome sequence filtering. Molecular Genetics and Metabolism. 105: 382-9. PMID 22264778 DOI: 10.1016/j.ymgme.2011.12.014  0.52
2011 Onojafe IF, Adams DR, Simeonov DR, Zhang J, Chan CC, Bernardini IM, Sergeev YV, Dolinska MB, Alur RP, Brilliant MH, Gahl WA, Brooks BP. Nitisinone improves eye and skin pigmentation defects in a mouse model of oculocutaneous albinism. The Journal of Clinical Investigation. 121: 3914-23. PMID 21968110 DOI: 10.1172/JCI59372  0.52
2011 Cullinane AR, Curry JA, Carmona-Rivera C, Summers CG, Ciccone C, Cardillo ND, Dorward H, Hess RA, White JG, Adams D, Huizing M, Gahl WA. A BLOC-1 mutation screen reveals that PLDN is mutated in Hermansky-Pudlak Syndrome type 9. American Journal of Human Genetics. 88: 778-87. PMID 21665000 DOI: 10.1016/j.ajhg.2011.05.009  0.52
2009 Mochel F, Yang B, Barritault J, Thompson JN, Engelke UF, McNeill NH, Benko WS, Kaneski CR, Adams DR, Tsokos M, Abu-Asab M, Huizing M, Seguin F, Wevers RA, Ding J, et al. Free sialic acid storage disease without sialuria. Annals of Neurology. 65: 753-7. PMID 19557856 DOI: 10.1002/Ana.21624  0.52
2007 Gropman AL, Adams DR. Atypical Patterns of Inheritance Seminars in Pediatric Neurology. 14: 34-45. PMID 17331882 DOI: 10.1016/j.spen.2006.11.007  0.52
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