Phenotypic Expansion Illuminates Multilocus Pathogenic Variation
HHS Public Access Author manuscript Author ManuscriptAuthor Manuscript Author Genet Med Manuscript Author . Author manuscript; Manuscript Author available in PMC 2019 April 05. Published in final edited form as: Genet Med. 2018 December ; 20(12): 1528–1537. doi:10.1038/gim.2018.33. Phenotypic Expansion Illuminates Multilocus Pathogenic Variation Ender Karaca, M.D.1,*,#, Jennifer E. Posey, M.D., Ph.D.1,*, Zeynep Coban Akdemir, Ph.D.1, Davut Pehlivan, M.D.1, Tamar Harel, M.D., Ph.D.2, Shalini N. Jhangiani, M.S.3, Yavuz Bayram, M.D.1,#, Xiaofei Song, B.S.1, Vahid Bahrambeigi, M.S.1,4, Ozge Ozalp Yuregir, M.D., Ph.D.5, Sevcan Bozdogan, M.D.6, Gozde Yesil, M.D.7, Sedat Isikay, M.D.8, Donna Muzny, M.S.3, Richard A. Gibbs, Ph.D.1,3, and James R. Lupski, M.D., Ph.D., D.Sc.(hon)1,3,9,10 1.Department of Molecular and Human Genetics, Baylor College of Medicine, Houston 77030, TX, USA 2.Department of Genetic and Metabolic Diseases, Hadassah-Hebrew University Medical Center, Jerusalem 91120, Israel 3.Human Genome Sequencing Center, Baylor College of Medicine, Houston 77030, TX, USA 4.Graduate Program in Diagnostic Genetics, School of Health Professions, University of Texas MD Anderson Cancer Center, Houston 77030, TX, USA 5.Genetic Diagnosis Center, University of Health Sciences, City Hospital, Adana 01370, Turkey 6.Department of Medical Genetics, Cukurova University Faculty of Medicine, Adana 01330, Turkey 7.Department of Medical Genetics, Bezmialem University, Istanbul 34093, Turkey 8.Department of Physiotherapy and Rehabilitation, Hasan Kalyoncu University, School of Health Sciences, Gaziantep 27410, Turkey 9.Department of Pediatrics, Baylor College of Medicine, Houston 77030, TX, USA 10.Texas Children’s Hospital, Houston 77030, TX, USA Users may view, print, copy, and download text and data-mine the content in such documents, for the purposes of academic research, subject always to the full Conditions of use:http://www.nature.com/authors/editorial_policies/license.html#terms Corresponding Authors: Jennifer E.
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