Paper Spotlight

Trainee Paper Spotlight: Kevin Gillinder

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 Paper Spotlight: Alina Kurolap

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

Trainee Paper Spotlight: Zafar Iqbal

Trainee Author: Zafar Iqbal, PhD Researcher Oslo University Hospital, Oslo, Norway (Photo courtesy Iqbal) Riazuddin S, Hussain M, Razzaq A, Iqbal Z, et al. Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability. Molecular Psychiatry (2017) 22, 1604-1614 This multi-investigator exome sequencing project aims to discover pathogenic mutations for... Read More

Trainee Paper Spotlight: Ryan Collins

  Trainee Author: Ryan Collins, AB PhD Candidate, Program in Bioinformatics and Integrative Genomics Harvard Medical School (Photo courtesy Collins) Collins RL et al. Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome. Genome Biology. 2017 Mar 6; 18 (1): 36 This study expands our understanding of the... Read More

Trainee Paper Spotlight: Ling-shiang Chuang

Trainee Author: Ling-shiang Chuang, PhD Instructor and Postdoctoral Fellow Icahn School of Medicine at Mount Sinai (Photo courtesy Chuang) Chuang LS, Villaverde N, Hui KY, et al. A Frameshift in CSF2RB Predominant Among Ashkenazi Jews Increases Risk for Crohn’s Disease and Reduces Monocyte Signaling via GM-CSF. Gastroenterology. 2016; 151(4):710-723.e2. This study uses multiple techniques to... Read More

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