Search Results
The Genomics Landscape
In the March 2024 issue of The Genomics Landscape, NHGRI Director Eric Green spotlights the Centers of Excellence in Genomic Science (CEGS) Program evaluation.
… NIH Clinical Center. Among the featured researchers are Bill Gahl, M.D., Ph.D., David Adams, M.D., Ph.D., and Cyndi Tifft, …
Staff
Dr. Marjan Huizing is a staff scientist in the Medical Genetics Branch at the National Human Genome Research Institute.
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… M., Rausche M., Toro J.R., Kaiser-Kupfer M.I., White J.G., Gahl W.A. Hermansky-Pudlak syndrome type 3 in Ashkenazi Jews … J Hum Genet , 69:1022-1032. 2001. [ PubMed ] Huizing M., Gahl W.A. Disorders of vesicles of lysosomal lineage: the … Strovel E., Fitzpatrick D.L., Hartnell L.M., Anikster Y., Gahl W.A. Nonsense mutations in ADTB3A cause complete …
The Genomics Landscape
In the May 2019 edition of The Genomics Landscape, NHGRI Director Eric Green recaps activities from National DNA Day 2019.
… featured in The Genomics Landscape earlier this year, Dr. Bill Gahl recently stepped down as NHGRI’s Clinical Director. I am …
Clinical Research
The study collects genetic and medical information from people with GNE myopathy to understand the symptoms and clinical course of GNE myopathy.
… S, Bayman L, Coffey CS, Quintana M, Berry SM, Huizing M, Gahl WA. Oral N-acetylmannosamine (ManNAc) rescues the basic … M, Xu X, Zhang M, Shi Y, Gu G, Liu W, Class B, Ciccone C, Gahl WA, Huizing M, Carrillo N, Wang AQ. Quantitation of … M, Shrader J, Slota C, Joe G, McKew JC, Fitzgerald M, Gahl WA, Berry S, Carrillo N. Bayesian model of disease …
Staff
Dr. Toro is a senior clinician in NHGRI's Office of the Clinical Director and co-director of the NIH Undiagnosed Diseases Program.
… … Toro C , Hori RT, Malicdan MCV, Tifft CJ, Goldstein A, Gahl WA, et al; C4RCD Research Group. A recurrent de novo … Markello T, Tifft C, Blackstone C, Rugarli EI, Langer T, Gahl WA, Toro C . Whole-exome sequencing identifies … M, Gavrilova R, Alturkustani M, Sharma M, Hammond R, Gahl WA, Toro C , Brusco A, et al. Genomic deletions upstream …
News Release
NHGRI will highlight rare disease research that benefits affected patients and provides insights into more common disorders on Rare Disease Day.
… like dementia with Lewy bodies," she said. William A. Gahl, M.D., Ph.D., NHGRI clinical director and director of … contribute to the study of common diseases. In 2011, Dr. Gahl and his UDP colleagues identified the genetic difference … especially in those on long-term hemodialysis," Dr. Gahl said. In Gaucher's disease, the small molecule NCGC607 …
News Release
UDN members have published a how-to guide for diagnosing medical mysteries for medical centers nationwide outline the framework for how this can be successful.
… Network at the NIH Common Fund [commonfund.nih.gov] Willam Gahl, M.D., Ph.D., Head, Undiagnosed Diseases Network … …
Staff
Dr. Introne is a pediatrician, clinical and biochemical geneticist in the Medical Genetics Branch in NHGRI.
… SM, Rosenzweig SD, Barbot J, Ciccone C, Huizing M, Toro C, Gahl WA, Introne WJ , Malicdan MCV. The spectrum of LYST … Parikh S, Ozbek NY, Malbora B, Ciccone C, Gunay-Aygun M, Gahl WA, Introne WJ , Malicdan MCV. cDNA sequencing increases … Cipriano A, Leuschner P, Krzewski K, Stephen J, Dorward H, Gahl WA, Gochuico BR, Toro C, Malicdan MC, Introne WJ . …
Staff
Dr. Ferreira is a staff clinician in the Medical Genomics and Metabolic Genetics Branch and the head of the Skeletal Genomics Unit.
… F, Dikoglu E, Chen MY, Mughal Z, Levine MA, Gafni RI, Gahl WA. Prospective phenotyping of long-term survivors of … . Genetics in Medicine . 2021;23(2):396-407. Ziegler S, Gahl WA, Ferreira CR . Generalized Arterial Calcification of … L, Gafni TI, Wolf M, Jüppner H, Gales B, Markovich D, Gahl WA, Salusky IB, Collins MT. Nephropathic cystinosis: a …
Staff
Dr. David Adams is a senior clinician in the Office of the Clinical Director, NHGRI, and co-director of the Undiagnosed Diseases Program at NIH. He serves as deputy director of clinical genomics in both.
… at the NIH in 2004 and stayed on in the lab of Dr. William Gahl to work on rare heritable and metabolic disorders. He … ME, Adams DR, Wasserstein M, Patterson MC, Walkley SU, Gahl WA; FSASD Consortium. Free sialic acid storage disorder: … Principles of Internal Medicine 21e . McGraw Hill; 2022. Gahl, WA, Adams, D.R.; Markello, T.C.; Toro, C.; Tifft, C.J. …