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Medrxiv : the Preprint Server for Health Sciences|February 7, 2023
Germline pathogenic variants in 786 neuroblastoma patientsJung Kim, Zalman Vaksman, Laura E Egolf, et al.Nature Medicine|July 3, 2019
ARAF recurrent mutation causes central conducting lymphatic anomaly treatable with a MEK inhibitorDong Li, Michael E March, Alvaro Gutierrez-Uzquiza, et al.Arthritis & Rheumatology (Hoboken, N.J.)|March 29, 2022
Identification of Novel Loci Shared by Juvenile Idiopathic Arthritis Subtypes Through Integrative Genetic AnalysisJin Li, Yun R Li, Joseph T Glessner, et al.Plos One|November 25, 2020
Asthma and its relationship to mitochondrial copy number: Results from the Asthma Translational Genomics Collaborative (ATGC) of the Trans-Omics for Precision Medicine (TOPMed) programMaxwell P Cocco, Evan White, Shujie Xiao, et al.American Journal of Human Genetics|May 29, 2012
RAD21 mutations cause a human cohesinopathyMatthew A Deardorff, Jonathan J Wilde, Melanie Albrecht, et al.Journal of Pathology Informatics|November 26, 2015
Practical considerations in genomic decision support: The eMERGE experienceTimothy M Herr, Suzette J Bielinski, Erwin Bottinger, et al.Proceedings of the National Academy of Sciences of the United States of America|May 22, 2010
Strong synaptic transmission impact by copy number variations in schizophreniaJoseph T Glessner, Muredach P Reilly, Cecilia E Kim, et al.American Journal of Human Genetics|June 5, 2013
Mutations in PDGFRB cause autosomal-dominant infantile myofibromatosisJohn A Martignetti, Lifeng Tian, Dong Li, et al.Frontiers in Physiology|November 16, 2020
Biliary-Atresia-Associated Mannosidase-1-Alpha-2 Gene Regulates Biliary and Ciliary Morphogenesis and LateralityJuhoon So, Mylarappa Ningappa, Joseph Glessner, et al.Journal of the National Cancer Institute|September 9, 2023
Germline pathogenic variants in neuroblastoma patients are enriched in BARD1 and predict worse survivalJung Kim, Zalman Vaksman, Laura E Egolf, et al.Pageof 91