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Missed diagnoses: Clinically relevant lessons learned through medical mysteries solved by the Undiagnosed Diseases Network.

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第一作者： Heidi,Cope

第一单位： Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA.

作者： Heidi,Cope ^[1] ; Rebecca,Spillmann ^[1] ; Jill A,Rosenfeld ^[2] ; Elly,Brokamp ^[3] ; Rebecca,Signer ^[4] ; Kelly,Schoch ^[1] ; Emily,Glanton ^[5] ; Jennifer A,Sullivan ^[1] ; Ellen,Macnamara ^[6] ; Sharyn,Lincoln ^[7] ; Katie,Golden-Grant ^[8] ; Undiagnosed Diseases Network ^[6] ; James P,Orengo ^[9] ; Gary,Clark ^[9] ; Lindsay C,Burrage ^[2] ; Jennifer E,Posey ^[2] ; Jaya,Punetha ^[2] ; Amy,Robertson ^[3] ; Joy,Cogan ^[3] ; John A,Phillips ^[3] ; Julian,Martinez-Agosto ^[4] ; Vandana,Shashi ^[1]

作者单位： Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA. ^[1] Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA. ^[2] Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, TN, USA. ^[3] Department of Human Genetics, University of California, Los Angeles, CA, USA. ^[4] Department of Biomedical Informatics, Harvard Medical School, Boston, MA, USA. ^[5] Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, NIH, Bethesda, MD, USA. ^[6] Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA. ^[7] Division of Medical Genetics, University of Washington, Seattle, WA, USA. ^[8] Department of Neurology, Baylor College of Medicine, Houston, TX, USA. ^[9]

关键词 exome sequencing genome sequencing phenotyping targeted genetic testing variant interpretation