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.
Event
NHGRI is hosting a workshop - Identifying Research Priorities to Accelerate genetic Diagnosis - on April 16-17, 2024.
… Illumina 9:25 AM – Panel Discussion Ali Crawford, Illumina Adam Kennedy, Metabolon, Inc. Tomi Pastinen, Children’s …
FAQ
On July 20, 2023, the National Human Genome Research Institute (NHGRI) hosted a pre-application webinar for the Human Genome Reference Program (HGRP) Informatics Tools for the Pangenome Notice of Funding Opportunity (NOFO): RFA-HG-23-026. We collected the questions and answers from the webinar to help applicants.
… between “infrastructure” and “user tools” please contact Adam Felsenfeld at adam_felsenfeld@nih.gov . NHGRI is interested in the topic of …
Research Training
A one-year fellowship program that trains highly motivated physicians to diagnose, manage, and counsel patients with inborn errors of metabolism.
Staff
Dr. Rossignol is a staff clinician in the Undiagnosed Diseases Program under Dr. William Gahl.
… deficiency. 2015 Jun 25 [updated 2022 Jul 7]. In: Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, …
National Advisory Council for Human Genome Research
The Director's Report-Related Documents contain links to materials supplemental to Dr. Eric Green's Director's Report presentation to the National Advisory Council for Human Genome Research in September 2022.
National Advisory Council for Human Genome Research
The Director's Report-Related Documents contain links to materials supplemental to Dr. Eric Green's Director's Report presentation to the National Advisory Council for Human Genome Research in May 2022.
Event
On February 16, 2023, the National Human Genome Research Institute (NHGRI) held a follow-up working group consultation after the 14th Genomic Medicine meeting, Genomic Medicine XIV: Genomic Learning Healthcare Systems.
… Name Institution Adam Buchanan Geisinger Health System Rizwan Hamid Vanderbilt …
Staff
Dr. Ferreira was a staff clinician in the Medical Genomics and Metabolic Genetics Branch and the head of the Skeletal Genomics Unit.
… Calcification of Infancy . 2020 Dec 30. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews ® … CR . Saul-Wilson syndrome 2020 Feb 20. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews ® …
News Release
NHGRI researchers will present four platform talks and 55 posters to highlight the institute's diverse portfolio at the 65th annual meeting of ASHG.
… (Statistical Genetics and Genetic Epidemiology) 2045T. Adam R. Davis: Discovery of small RNA biomarkers of …