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De novo variants in EMC1 lead to neurodevelopmental delay and cerebellar degeneration and affect glial function in Drosophila.

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第一作者： Hyung-Lok,Chung

第一单位： Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.;Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA.;Howard Hughes Medical Institute, Baylor College of Medicine, Houston, TX 77030, USA.

作者： Hyung-Lok,Chung ^[1] ; Patrick,Rump ^[2] ; Di,Lu ^[3] ; Megan R,Glassford ^[4] ; Jung-Wan,Mok ^[3] ; Jawid,Fatih ^[5] ; Adily,Basal ^[6] ; Paul C,Marcogliese ^[3] ; Oguz,Kanca ^[3] ; Michele,Rapp ^[7] ; Johanna M,Fock ^[8] ; Erik-Jan,Kamsteeg ^[9] ; James R,Lupski ^[10] ; Austin,Larson ^[11] ; Mark C,Haninbal ^[4] ; Hugo,Bellen ^[1] ; Tamar,Harel ^[12]

作者单位： Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.;Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA.;Howard Hughes Medical Institute, Baylor College of Medicine, Houston, TX 77030, USA. ^[1] University of Groningen, University Medical Centre Groningen, Department of Genetics, Groningen 9700 RB, The Netherlands. ^[2] Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.;Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA. ^[3] Division of Pediatric Genetics, Metabolism & Genomic Medicine, University of Michigan Medical School, Ann Arbor, MI 48109, USA. ^[4] Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA. ^[5] Department of Genetics, Hadassah Medical Organization, Jerusalem 9112001, Israel. ^[6] University of Colorado Anschutz Medical Campus, Aurora, CO 60045, USA. ^[7] University of Groningen, University Medical Centre Groningen, Department of Neurology, Groningen 9700 RB, The Netherlands. ^[8] Department of Human Genetics, Radboud University Medical Centre, Nijmegen 6500 HB, The Netherlands. ^[9] Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.;Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.;Department of Pediatrics, Texas Children's Hospital, Houston, TX 77030, USA. ^[10] University of Colorado School of Medicine and Children's Hospital Colorado, Aurora, CO 60045, United States. ^[11] Department of Genetics, Hadassah Medical Organization, Jerusalem 9112001, Israel.;Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem 9112001, Israel. ^[12]