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European Journal of Human Genetics : EJHG|January 10, 2019
Genetic architecture of laterality defects revealed by whole exome sequencingAlexander H Li, Neil A Hanchard, Mahshid Azamian, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 21, 2019
Atlas-CNV: a validated approach to call single-exon CNVs in the eMERGESeq gene panelTheodore Chiang, Xiuping Liu, Tsung-Jung Wu, et al.Journal of Hepatology|April 28, 2016
Novel patient-derived xenograft and cell line models for therapeutic testing of pediatric liver cancerBeatrice Bissig-Choisat, Claudia Kettlun-Leyton, Xavier D Legras, et al.Cell Reports. Medicine|June 6, 2025
Proteogenomic analysis of the CALGB 40601 (Alliance) HER2+ breast cancer neoadjuvant trial reveals resistance biomarkersEric J Jaehnig, Aranzazu Fernandez-Martinez, Tanmayi D Vashist, et al.Genome Medicine|January 8, 2016
POGZ truncating alleles cause syndromic intellectual disabilityJanson White, Christine R Beck, Tamar Harel, et al.American Journal of Human Genetics|May 29, 2018
Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory SyndromeM Cecilia Poli, Frédéric Ebstein, Sarah K Nicholas, et al.Nature Communications|February 19, 2016
Mutations in the nuclear bile acid receptor FXR cause progressive familial intrahepatic cholestasisNatalia Gomez-Ospina, Carol J Potter, Rui Xiao, et al.Nature|January 5, 2018
Sooty mangabey genome sequence provides insight into AIDS resistance in a natural SIV hostDavid Palesch, Steven E Bosinger, Gregory K Tharp, et al.Cell|February 25, 2017
An Organismal CNV Mutator Phenotype Restricted to Early Human DevelopmentPengfei Liu, Bo Yuan, Claudia M B Carvalho, et al.Nature Communications|March 20, 2015
Rise and fall of subclones from diagnosis to relapse in pediatric B-acute lymphoblastic leukaemiaXiaotu Ma, Michael Edmonson, Donald Yergeau, et al.Pageof 65