Author: Iris Nira Smith, PhD Postdoctoral Fellow Genomic Medicine Institute Lerner Research Institute Cleveland Clinic Smith IN, et al. Conformational dynamics and allosteric regulation landscapes of germline PTEN mutations associated with autism compared to those associated with cancer. 2019 American Journal of Human Genetics. May 2;104(5):861-878\ Why do mutations in the same gene sometimes lead... Read More
Trainee Author: Yuetiva (Deming) Robles, PhD Postdoctoral Trainee University of Wisconsin-Madison (Photo courtesy Robles) Deming Y, et al. The MS4A gene cluster is a key modulator of soluble TREM2 and Alzheimer’s disease risk. 2019 Aug 14;505(11) In this study, Deming et al. identify the MS4A gene cluster as a regulator of soluble TREM2 (sTREM2), a... Read More
Trainee Author: Raluca Nicoli, Pharm, PhD Postdoctoral Researcher National Human Genome Research Institute National Institutes of Health (Photo courtesy Nicoli) Nicoli E, et al. Lysosomal storage and albinism due to effects of a de novo CLCN7 variant on lysosomal acidification. 2019 June 6;104(6) This month’s Trainee Paper Spotlight article is a prime example... Read More
Trainee Author: Ajai K. Pathak Early Career Researcher Estonian Biocentre-Institute of Genomics University of Tartu (Photo courtesy Jüri Parik) Pathak AK, et al.The Genetic Ancestry of Modern Indus Valley Populations from Northwest India. American Journal of Human Genetics. 2018 Dec 6;103(6) To fully capture the variation of the human genome it is important to... Read More
Trainee Author: Dr. Callie Kwartler Postdoctoral Fellow Milewicz Lab – University of Texas Health Science Center at Houston (Photo courtesy Kwartler) Kwartler CS, Gong L, Chen J, Wang S, Kulmacz R, Duan XY, Janda A, Huang J, Kamm KE, Stull JT, Guo D, Milewicz DM. Variants of Unknown Significance in Genes Associated with Heritable Thoracic... Read More
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