David R. Adams
Affiliations: | National Human Genome Research Institute, USA |
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Parents
Sign in to add mentor| Maynard V. Olsen | grad student | 1998 | University of Washington |
| William Gahl | research scientist | NIH |
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Publications
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| Baynam GS, Groft S, van der Westhuizen FH, et al. (2019) A call for global action for rare diseases in Africa. Nature Genetics |
| Kanca O, Andrews JC, Lee PT, et al. (2019) De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia. American Journal of Human Genetics. 105: 672-674 |
| Kanca O, Andrews JC, Lee PT, et al. (2019) De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia. American Journal of Human Genetics |
| Nicoli ER, Weston MR, Hackbarth M, et al. (2019) Lysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal Acidification. American Journal of Human Genetics |
| Sharma P, Reichert M, Lu Y, et al. (2019) Biallelic HEPHL1 variants impair ferroxidase activity and cause an abnormal hair phenotype. Plos Genetics. 15: e1008143 |
| Power B, Ferreira CR, Chen D, et al. (2019) Hermansky-Pudlak syndrome and oculocutaneous albinism in Chinese children with pigmentation defects and easy bruising. Orphanet Journal of Rare Diseases. 14: 52 |
| Gu F, Wu A, Gordon MG, et al. (2019) A suite of automated sequence analyses reduces the number of candidate deleterious variants and reveals a difference between probands and unaffected siblings. Genetics in Medicine : Official Journal of the American College of Medical Genetics |
| Adams DR, Menezes S, Jauregui R, et al. (2019) One-year pilot study on the effects of nitisinone on melanin in patients with OCA-1B. Jci Insight. 4 |
| Chin JJ, Behnam B, Davids M, et al. (2018) Novel mutations in CLN6 cause late-infantile neuronal ceroid lipofuscinosis without visual impairment in two unrelated patients. Molecular Genetics and Metabolism |
| Morimoto M, Waller-Evans H, Ammous Z, et al. (2018) Bi-allelic CCDC47 Variants Cause a Disorder Characterized by Woolly Hair, Liver Dysfunction, Dysmorphic Features, and Global Developmental Delay. American Journal of Human Genetics. 103: 794-807 |