Paper Spotlight

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

Trainee Author: Janson White, PhD Senior Fellow Department of Pediatrics, University of Washington (Photo courtesy White) White JJ, et al. WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome. AJHG. 2018 Jan 4;102(1):27-43. This study was selected for the Trainee Paper Spotlight because it uses extensive genetic and genomic studies to identify new pathogenic... Read More

Trainee Author: Kevin Gillinder, PhD Research Fellow Australian Centre for Blood Diseases, Monash University, Australia (Photo courtesy Gillinder) Gillinder KR, et al. Promiscuous DNA-binding of a mutant zinc finger protein corrupts the transcriptome and diminishes cell viability. NAR. 2017 Feb 17;45(3):1130-1143 This is the first study to show neomorphic functions in a zinc finger binding... Read More

Trainee Author: Alina Kurolap, RN, MSc PhD Student, Medical Sciences Technion – Israel Institute of Technology, the Ruth and Bruce Rappaport Faculty of Medicine (Photo courtesy Kurolap) Kurolap A, Armbruster A, et al. Loss of glycine transporter 1 causes a subtype of glycine encephalopathy with arthrogryposis and mildly elevated cerebrosipinal fluid glycine. AJHG. 2016 Nov... Read More