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Staff
Dr. Mo is an adjunct staff clinician in the Hematology Laboratory, Department of Laboratory Medicine in the NIH Clinical Center.
Genetic Disorders
Autism is characterized by impaired social interactions, problems with verbal and nonverbal communication and repetitive behaviors.
… in genes that control brain growth and that regulate how neurons communicate with each other. These are preliminary …
Staff
Dr. Introne is a pediatrician, clinical and biochemical geneticist in the Medical Genetics Branch in NHGRI.
… LYST deficiency impairs autophagic lysosome reformation in neurons and alters lysosome number and size . Cell. Mol. Life …
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. Manoli is a pediatrician, clinical and biochemical geneticist in the Organic Acid Research Section of the Metabolic Medicine Branch at NHGRI.
… variants alter GATA2 expression in rhombomere 4 motor neurons and cause dominant hereditary congenital facial …
Staff
William J. Pavan, Ph.D. is the chief of NHGRI's Genetic Disease Research Branch.
News Release
NIH awards more than $64 million to for a database of human cellular responses called the Library of Integrated Network-based Cellular Signatures or LINCS.
Staff
Dr. Tyra Wolfsberg is the associate director of the Bioinformatics and Scientific Programming Core at the National Human Genome Research Institute. ​
… that ctenophores, which possess complex cell types such as neurons and muscle cells, are our oldest animal relatives; …
Staff
Dr. Andy Baxevanis is a senior scientist leading NHGRI's Computational Genomics Unit.
… that ctenophores, which possess complex cell types such as neurons and muscle cells, are our oldest animal relatives — …
Staff
Dr. Settara Chandrasekharappa is an associate investigator in NHGRI's Cancer Genetics and Comparative Genomics Branch.
… result in increased neural progenitor differentiation to neurons during embryonic development, leading to the …