Search Results
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."
The Genomics Landscape
In the March 3, 2022 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., highlights the new fact sheets produced by the institute's Communications and Public Liaison Branch.
… resources President Biden announces OSTP leadership Dr. William Gahl received Eurordis Black Pearl Award 2022 Genome: …