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- Multi-Omics for Health and Disease (Multi-Omics)1
- Ethical, Legal and Social Implications (ELSI) Research Program4
- Genomics-Enabled Learning Health Systems (gLHS)1
- Impact of Genomic Variation on Function (IGVF) Consortium1
- Encyclopedia of DNA Elements (ENCODE) Project1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium1
Staff
Dr. James Thomas is the acting director for the NIH Intramural Sequencing Center (NISC).
… resolves missing heritability in oculocutaneous albinism type 1B . Am J Hum Genet . 2023 Jul 6;110(7):1123-1137. doi: …
Staff
Dr. James Inglese is an adjunct investigator in NHGRI's Metabolic Medicine Branch.
… peripheral neuropathy Charcot-Marie-Tooth disease type 1A resulting from a 1.4 Mb duplication encompassing the …
Staff
Dr. William A. Gahl is a senior investigator in the Medical Genetics Branch and the director of the NIH Undiagnosed Diseases Program.
… due to deficiency of CD73, 3-methylglutaconic aciduria type III, 3 types of HPS, and neutropenia due to VPS45 … for Hartnup disease, 3-methylglutaconic aciduria type III, HPS-2, HPS-3 and HPS-9. The gene responsible for HPS-9, PLDN …
Staff
Dr. Joshua Denny is the head of the NHGRI Precision Health Informatics Section and Chief Executive Officer of the National Institutes of Health’s All of Us Research Program.
Staff
Dr. Lanata is a staff clinician in NHGRI's Genomics of Autoimmune Rheumatic Disease Section.
… CM , Matloubian M, et al. Single-cell RNA-seq reveals cell type-specific molecular and genetic associations to lupus . …
Staff
Dr. Dan Kastner is an NIH Distinguished Investigator in Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch.
… and, altogether, the Kastner group has evaluated over 2,000 patients under their natural history protocol. This … PLAID), the deficiency of adenosine deaminase type 2 (DADA2), haploinsufficiency of A20 (HA20), otulipenia, … Virulence Factor YopM Hijacks Host Kinases to Inhibit Type III Effector-Triggered Activation of the Pyrin …
Staff
Dr. Meru Sadhu is the head of the Systems Biology and Genome Engineering Section at the National Human Genome Research Institute. ​
Staff
Dr. Leslie Biesecker is a clinical and molecular geneticist in and the chief of NHGRI's Center for Precision Health Research.
… Hall syndromes: Robust phenotype prediction from the type and position of GLI3 mutations. Am J Hum Genet , …
Staff
Dr. Benjamin Solomon is the Clinical Director in the Office of the Clinical Director at the National Human Genome Research Institute.
… assessing genetic conditions . PLoS Genet . 2024 Feb 27;20(2):e1011168. doi: 10.1371/journal.pgen.1011168. Solomon BD, … of Secondary Genomic Findings . Am J Hum Genet . 2020 Jul 2;107(1):3-14. doi: 10.1016/j.ajhg.2020.05.002. Yan K, …
Staff
Dr. Bell is a senior investigator at the National Human Genome Research Institute's Cancer Genetics and Comparative Genomics Branch.
… implicated in the molecular etiology of this tumor type. In ongoing studies, the Bell laboratory, together with … of potentially druggable proteins and sensitivity to SI-2 and dinaciclib. Mol Carcinog , doi: 10.1002/mc.22867. 2018. …