Search Results
Staff
Abdel Elkahloun is an associate investigator in NHGRI's Office of Scientific Core Facilities.
… of candidate genes involved in coronary artery calcification by transcriptome sequencing of cell lines. BMC …
Genetic Disorders
Familial hypercholesterolemia is an inherited condition causing increased low density lipoprotein cholesterol at birth and heart attacks at an early age.
The Genomics Landscape
In the February 2019 edition of The Genomics Landscape, NHGRI Director Eric Green recognizes Dr. Bill Gahl's achievements as Clinical Director.
… recalls the discovery of the program's first new disease - Arterial Calcification due to Deficiency of CD73; this work was …
Genetic Disorders
Poland anomaly is an underdevelopment or absence of the chest muscle on one side of the body and webbing of the fingers of the hand on the same side.
Health
A polygenic risk score is one way by which people can learn what their risk of developing a disease is, based on the total number of genomics variants related to the disease.
Talking Glossary
Un rasgo, en lo que se relaciona a la genética, es una caracterÃstica especÃfica de una persona.
… los ojos) o cuantitativos (como la estatura o la presión arterial). Un rasgo determinado es parte del fenotipo general …
Staff
Dr. Leslie Biesecker is a clinical and molecular geneticist in and the chief of NHGRI's Center for Precision Health Research.
… discovery of a gene associated with coronary artery calcification using transcriptome sequencing and the use of a …
Staff
Eric D. Green, M.D., Ph.D., served as the director of the National Human Genome Research Institute (NHGRI) at the U.S. National Institutes of Health (NIH) from 2009 to 2025.
… of candidate genes involved in coronary artery calcification by transcriptome sequencing of cell lines. BMC … and protein evidence connects TREML4 to coronary artery calcification. Am J Hum Genet , 95:66-76. 2014. [ PubMed ] …
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.
Staff
Dr. Michael Erdos is an Associate Investigator in the Molecular Genetics Section of the Center for Precision Health Research.
… of vascular smooth muscle cells (VSMCs) and stiffening of arterial walls. In the homozygous state the mouse presents … Children’s Hospital. That trial showed improvement in arterial stiffness, and ultimately a modest extension in …