Neurogenetics

Published: Monday, July 22, 2019, 12:00 p.m. U.S. Eastern Time Media Contact: Ann Klinck, 301.634.7342, press@ashg.org Neurologist to Receive Award at ASHG 2019 Annual Meeting ROCKVILLE, MD – The American Society of Human Genetics (ASHG) has named Huda Zoghbi, MD, as the 2019 recipient of the Victor A. McKusick Leadership Award. Dr. Zoghbi is the... Read More

Trainee Author: Michael D. Gallagher, BS, PhD Postdoctoral Associate Whitehead Institute for Biomedical Research (Photo courtesy Gallagher) Gallagher MD, et al. A Dementia-Associated Risk Variant near TMEM106B Alters Chromatin Architecture and Gene Expression. AJHG. 2017 Nov 2;101(5):643-663 This paper is a prime example of how to mechanistically follow up on a GWAS result. Gallagher et... Read More

Trainee Author: Julie Craft Van De Weghe, PhD Senior Postdoc Research Fellow Department of Pediatrics, University of Washington (Photo courtesy Van De Weghe) Van De Weghe JC, Rusterholz TDS, Latour B, et al. Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish. AJHG. 2017 Jun... Read More

Trainee Author: Ariel F. Martinez, PhD, MB (ASCP) Biologist National Human Genome Research Institute, National Institutes of Health (Photo courtesy Martinez) Martinez AF, et al. An Ultraconserved Brain-Specific Enhancer Within ADGRL3 (LPHN3) Underpins Attention-Deficit/Hyperactivity Disorder Susceptibility. Biological Psychiatry. 2016 Dec 15;80(12):943-954 This is the first study to show functional evidence as to how common non-coding... Read More

For Immediate Release Wednesday, July 18, 2018 12:00 p.m. U.S. Eastern Time Media Contact: Ann Klinck 301.634.7342 press@ashg.org Geneticist to Receive Award at ASHG 2018 Annual Meeting ROCKVILLE, MD – The American Society of Human Genetics (ASHG) has named Jan M. Friedman, MD, PhD, as the 2018 recipient of the Arno Motulsky-Barton Childs Award for... Read More