Search Results
Staff
Dr. Introne is a pediatrician, clinical and biochemical geneticist in the Medical Genetics Branch in NHGRI.
… MB Perry, CC Brewer, C Zalewski, HJ Kim, B Solomon, BP Brooks, LH Gerber, ML Turner, DL Domingo, TC Hart, J Graf, JC …
News Release
Researchers sequence the genomes of healthy participants, then analyze the data to find presumed, mutations that might lead to a genetic condition.
… on Deafness and Other Communication Disorders; Brian Brooks, M.D., Ph.D., Wadih Zein, M.D., National Eye …
Professional Development Programs
Provides exposure to the broader genomics community and experts in the field, with the opportunity to work on a genetics/genomics-related education projects under the mentorship of an ISCC-PEG member.
… of Neonatology Rare Diseases and Inclusive Genetics Lisa Ferrand, BS, MS Barry University, PhD in Nursing …
Funded Research
The Advancing Genomic Medicine Research (AGMR) program stimulates innovation and advance understanding of when, where and how best to implement the use of genomic information and technologies in clinical care.
… Screening across Diverse Populations and Settings (FOCUS) Lisa Bastarache Douglas Ruderfer Vanderbilt University …
Staff
Dr. Douglas Stewart is an associate investigator in NHGRI's Center for Precision Health Research.
… Rubin BP, Heinrich MC, Messiaen LM, Kessler LJ, Zhang PJ, Brooks DG. Mitotic recombination as evidence of alternative …
Staff
Dr. Erin M. Ramos is the director of the Divison of Genome Sciences at the National Human Genome Research Institute.
… 2014. [ PubMed] Ramos EM, Din-Lovinescu C, Berg JS, Brooks LD, Duncanson A, Dunn M, Good P, Hubbard TJ, Jarvik …
For Press
Pangenome Resources for Press
… M.S., NHGRI Starring: Adam Phillippy, Ph.D., NHGRI Shelise Brooks, NISC Sergey Koren, Ph.D., NHGRI Arang Rhie, Ph.D., …
Staff
Dr. Heidi Sofia served as a program director in the Division of Genomic Medicine at the National Human Genome Research Institute from 2010-2023.
Event
A joint NHGRI-NCATS hosted meeting bringing together researchers, clinicians, families and patient advocates from around the world to discuss the natural history, disease pathophysiology, genetics and treatments for rare inborn metabolic errors.
… 3:30 - 4:00 p.m. Pave-GT Program for Organic Acidemias PJ Brooks, Ph.D. 4:00 - 4:30 p.m. Panel Discussion: Promises and …
Staff
Dr. Randy Chandler is an associate investigator in the Organic Acid Research Section of the Metabolic Medicine Branch in NHGRI.
… viral vectors . Mol Ther Methods Clin Dev . 2020. Brooks PJ, Ottinger EA, Portero D, Lomash RM, Alimardanov A, …