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

Autor: Chung HL; 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., Rump P; University of Groningen, University Medical Centre Groningen, Department of Genetics, Groningen 9700 RB, The Netherlands., Lu D; 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., Glassford MR; Division of Pediatric Genetics, Metabolism & Genomic Medicine, University of Michigan Medical School, Ann Arbor, MI 48109, USA., Mok JW; 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., Fatih J; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Basal A; Department of Genetics, Hadassah Medical Organization, Jerusalem 9112001, Israel., Marcogliese PC; 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., Kanca O; 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., Rapp M; University of Colorado Anschutz Medical Campus, Aurora, CO 60045, USA., Fock JM; University of Groningen, University Medical Centre Groningen, Department of Neurology, Groningen 9700 RB, The Netherlands., Kamsteeg EJ; Department of Human Genetics, Radboud University Medical Centre, Nijmegen 6500 HB, The Netherlands., Lupski JR; 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., Larson A; University of Colorado School of Medicine and Children's Hospital Colorado, Aurora, CO 60045, United States., Haninbal MC; Division of Pediatric Genetics, Metabolism & Genomic Medicine, University of Michigan Medical School, Ann Arbor, MI 48109, USA., Bellen H; 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., Harel T; Department of Genetics, Hadassah Medical Organization, Jerusalem 9112001, Israel.; Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem 9112001, Israel.

Publikováno v: Human molecular genetics [Hum Mol Genet] 2022 Sep 29; Vol. 31 (19), pp. 3231-3244.