Paper Spotlight

Trainee Author: Saumya Jamuar, MBBS MRCPCH Attending, Genetics Service, Department of Paediatrics, KK Women’s and Children’s Hospital, Singapore Asst Professor, Paediatrics ACP, Duke-NUS Medical School, Singapore Clinical Director, Institute of Precision Medicine (PRISM), Duke-NUS Medical School, Singapore PI and Clinical Lead, Singapore Undiagnosed Disease Programme, Singapore Co-founder and co-Chief Scientific Officer, Global Gene Corp (Photo... Read More

Trainee Author: Omer Weissbrod, PhD Postdoctoral Fellow Harvard School of Public Health (Photo courtesy Weissbrod) Rothschild, Weissbrod et al. Environment dominates over host genetics in shaping human gut microbiota. Nature. 2018 Mar 8;555(7695):210-215 This paper offers a unique perspective on the contributions of genetics and the gut microbiome to complex traits in humans. By analyzing... 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: Eirini Marouli, PhD Postdoctoral Research Associate William Harvey Research Institute Barts and The London School of Medicine and Dentistry Queen Mary University of London (Photo courtesy Marouli) Marouli E, et al. Rare and low-frequency coding variants alter human adult height. Nature. 2017 Feb 9;542(7640):186-190 This paper greatly expands our understanding of the role... 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