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… Workshop on Research Directions in Stevens-Johnson Syndrome Toxic Epidermal Necrolysis.pptx …
Staff
Dr. Laura Koehly is the chief of and senior investigator in the Social and Behavioral Research Branch at the National Human Genome Research Institute.​
… genetic risk communication within families for whom Lynch syndrome mutations and, separately, BRCA1/2 mutations, have … Reveal Two Growth Phenotypes in Mouse Models of Down Syndrome . Am J Obstet Gynecol . 2023 Aug … fetal and placental phenotyping in 3 mouse models of Down syndrome . Am J Obstet Gynecol . 2021 …
For Health Professionals
Archives of ISCC-PEG webinars, articles, case studies and more.
… Surgery Title: Utilizing family history to identify Lynch Syndrome Type of Case Study: Family History In collaboration …
Staff
Dr. Amanda Ombrello is a clinical researcher in the Inflammatory Disease Section of NHGRI's Medical Genetics Branch.
… as a separate entity to the established cytokine release syndrome. Dr. Ombrello has become increasingly recognized as … Kastner DL, Ombrello AK . Cryopyrin-associated periodic syndrome caused by a myeloid-restricted somatic NLRP3 …
Partner with NHGRI
NHGRI's technologies, inventions and discoveries are available for licensing.
… … Mouse Models Mouse Model of Hutchinson-Gilford Progeria Syndrome and Vascular Abnormalities DHHS Reference No.: …
News Release
Extending noninvasive prenatal screening to all 24 human chromosomes can detect genetic disorders that explain miscarriage and abnormalities during pregnancy.
… These tests, however, typically focus only on Down syndrome and other common trisomies. A trisomy is a condition … and potentially reduce false-positive results for Down syndrome and other genetic conditions," said Diana W. …
Staff
Dr. Manoli is a pediatrician, clinical and biochemical geneticist in the Organic Acid Research Section of the Metabolic Medicine Branch at NHGRI.
… on an extramural-intramural collaborative grant on Moebius syndrome and related facial weakness disorders, with … ( MYMK ) as the causative gene for Carey-Fineman-Ziter syndrome, and heterozygous non-coding variants (duplications … Engle EC, Collins FS, Manoli I . Differentiating Moebius syndrome and other congenital facial weakness disorders with …
Staff
Dr. Galarreta is a board-certified pediatrician and biochemical geneticist in NHGRI's Metabolic Medicine Branch.
… Slavotinek A. Expanding the phenotype of PIK3C2A related syndrome: Report of two siblings with novel features and … phenotypic characterization of Kaufman oculocerebrofacial syndrome: report of five new cases and literature review . …
Staff
Dr. Settara Chandrasekharappa is an associate investigator in NHGRI's Cancer Genetics and Comparative Genomics Branch.
… of the encoded proteins, responsible for Alagille syndrome and multiple endocrine neoplasia type 1. His current … in Menkes disease, Parkinson's disease, and Bardet-Biedl syndrome 1. CGU developed and employed BAC arrays for … positional cloning of the gene responsible for Alagille syndrome (AGS), a congenital disorder characterized by …
The Genomics Landscape
In the January 2020 edition of The Genomics Landscape, NHGRI Director Eric Green highlights the newly developed polygenic risk scores webpage, which provides graphical and textual information about polygenic risk scores, describes polygenic traits, introduces how polygenic risk scores can be calculated, and explains how such scores can be interpreted.
… for 17 genes reported to be associated with long QT syndrome, a congenital heart condition that predisposes … as having limited or disputed evidence for causing the syndrome, and confirmed only three of the genes to be … awards to support training in research related to Down Syndrome as part of the INCLUDE Project Mentored career …