Search Results
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 …
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 …
15 Ways Genomics Influences Our World
Genomics is ending diagnostic odysseys for patients with rare diseases.
… was sequenced and interpreted by a team including Dr. William Gahl at the U.S. National Institutes of Health. They found a …
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 …
News Release
Clinical geneticist to lead NHGRI’s clinical genomics research efforts
… a 16-year tenure of the previous clinical director, Bill Gahl, M.D., Ph.D.; Dr. Gahl stepped down at the end of 2018, and NHGRI Scientific … as acting clinical director in the interim.  One of Dr. Gahl’s signature achievements was the founding of the NIH …
Staff
Dr. Benjamin Solomon is the Clinical Director in the Office of the Clinical Director at the National Human Genome Research Institute.
… CR, Wetterstrand KA, Bates SA, Leja D, Vasquez S, Gahl WA, Graham BJ, Kastner DL, Liu P, Rodriguez LL, Solomon … Savic S, Lachmann HJ, Abu-Asab M, Solomon BD, Retterer K, Gahl WA, Burgess SM, Aksentijevich I, Young NS, Calvo KR, … G, Grigelioniene G, Jackson A, Westerfield M, Bober MB, Gahl WA, Freeze HH. A Recurrent De Novo Heterozygous COG4 …
Staff
Dr. Merideth is a staff clinician in the Office of the Clinical Director and program director for both the NHGRI Medical Biochemical Genetics Fellowship and
NHGRI Clinical Biochemical Genetics Fellowship.
… Pri-Chen H, Hess RA, Fischer R, O'Brien KJ, Merideth MA , Gahl WA, et al. Hermansky-Pudlak syndrome: Mutation update . … Camp PC Jr, Rosas IO, Lemma M, Speransky V, Merideth MA , Gahl WA, et al. Clinical management and outcomes of patients … M Gerhard-Herman, FS Collins, EG Nabel, RO Cannon, WA Gahl, Introne WJ. Phenotype and course of Hutchinson-Gilford …
Event
On February 23, 2023, NHGRI and the Smithsonian National Museum of African American History and Culture (NMAAHC) continue their collaboration to present, "Historically Speaking: Next Generation of Black Leaders in Genetic Science."