Search Results
Staff
Dr. William A. Gahl is a senior investigator in the Medical Genetics Branch and the director of the NIH Undiagnosed Diseases Program.
… His group described the natural history of Lowe syndrome, alkaptonuria, autosomal recessive polycystic kidney … disease, GNE myopathy, and Hermansky-Pudlak syndrome (HPS), a disorder of oculocutaneous albinism, … His lab discovered the genetic bases of gray platelet syndrome, Hartnup disease, arterial calcification due to …
Event
On November 5-9, 2024, the National Human Genome Research Institute (NHGRI) will participate in the ASHG Annual Meeting - the world's largest human genetics and genomics meeting and exposition. The annual meeting provides a forum for the presentation and discussion of cutting-edge science in all areas of human genetics.
… – 4:30 p.m. . Seyma Eroglu Ankylosing spine-brachydactyly syndrome: A possible novel skeletal dysplasia 2010T Kendall … for Genetic Disorders Platform talk: Rescue of Proteus syndrome lethality in mice with prenatal miransertib …
Staff
Dr. Mullikin was the former director of the NIH Intramural Sequencing Center (NISC).
… Program, Bouffard GG, Blakesley RW, Wolfsberg TG, Turner ML, Segre JA. A diversity profile of the human skin … 2009. [ PubMed ] Biesecker LG, Mullikin JC, Facio FM, Turner C, Cherukuri PF, Blakesley RW, Bouffard GG, Chines PS, … JG, Huizing M, Gahl WA. NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of platelet …
Research Funding
A list of members who contribute to the goals of the IGVF Consortium by generating data and/or analyses, sharing data and/or analyses freely through the IGVF Data and Administrative Coordinating Center (DACC), and/or by contributing to cross- consortium integrative analyses.
… their function in hematopoiesis and leukemia. Tychele Turner, Washington University in St. Louis The Turner Lab's initial planned contribution is focused on the …
File
… et al. Specific amino acid changes of congenital nephrotic syndrome in Indonesia. 2017 (In preparation). 5. Ariani Y , … -K, Jones KL , Abdul -Rahman OA , Ekure EN , et al . Down syndrome in diverse populations . Am J Med Genet Part A. 2017 … in Diverse populations (Down Syndrome, 22q11.2 Syndrome, Turner Syndrome, Noonan Syndrome, Williams Syndrome). …
Talking Glossary
La monosomía se refiere a una situación en la que solo uno de los cromosomas de un par de cromosomas está presente en las células, en lugar de las dos copias que se encuentran habitualmente en las células diploides.
… determinadas enfermedades humanas, como el síndrome de Turner y el síndrome de Cri du chat (maullido de gato). …
Professional Development Programs
The JHU/NHGRI Genetic Counseling Training Program trains students to conduct research and provides clinical rotations to learn about genetic conditions.
… Medical Center Pediatric Cancer Genetics Joyce Tannenbaum Turner, M.S. Pediatric Genetics Anna Ferrigan, M.S. Andrew … M.S. Emily Oppman, M.S. Katie Schwarting, M.S. Morgan Turner, M.S. Johns Hopkins Medical Institutions Center for …
Staff
Dr. Julie Segre is chief and a senior investigator in the Translational and Functional Genomics Branch at the National Human Genome Research Institute.
… Komarow HD, NISC Comparative Sequence Program, Murray PR, Turner ML, Segre JA. Temporal shifts in the skin microbiome … Program, Bouffard GG, Blakesley RW, Murray PR, Green ED, Turner ML, Segre JA. Topographical and temporal diversity of … Program, Bouffard GG, Blakesley RW, Wolfsberg TG, Turner ML, Segre JA. A diversity profile of the human skin …
Event
On March 12-16, 2024, the National Human Genome Research Institute (NHGRI) will participate in the 2024 ACMG Annual Clinical Genetics Meeting - an annual medical and scientific conference continues to provide groundbreaking research and the latest advances in medical genetics, genomics and personalized medicine.
… IDH1 mosaicism P237 Diagnosis of Cornelia de Lange Syndrome Through EPISign Whole Genome Methylation Assay: …
Staff
Dr. Acosta is a board-certified pediatric neurologist with the NIH Undiagnosed Diseases Program's GM1 gene therapy trial.
… Phenotype, and Natural History of Phelan-McDermid Syndrome” (NCT02461420); and the “Autoimmune Brain Disorders … Vezina G, Page DC, Muenke M. Circle of Willis anomalies in Turner syndrome: Absent A1 segment of the anterior cerebral artery . …