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A phenome-wide association study of methylated GC-rich repeats identifies a GCC repeat expansion in AFF3 associated with intellectual disability.

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第一作者： Bharati,Jadhav

第一单位： Department of Genetics and Genomic Sciences and Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA.

作者： Bharati,Jadhav ^[1] ; Paras,Garg ^[1] ; Joke J F A,van Vugt ^[2] ; Kristina,Ibanez ^[3] ; Delia,Gagliardi ^[4] ; William,Lee ^[1] ; Mariya,Shadrina ^[1] ; Tom,Mokveld ^[5] ; Egor,Dolzhenko ^[5] ; Alejandro,Martin-Trujillo ^[1] ; Scott J,Gies ^[1] ; Gabrielle,Altman ^[1] ; Clarissa,Rocca ^[6] ; Mafalda,Barbosa ^[1] ; Miten,Jain ^[7] ; Nayana,Lahiri ^[8] ; Katherine,Lachlan ^[9] ; Henry,Houlden ^[6] ; Benedict,Paten ^[10] ; Genomics England Research Consortium ^[2] ; Project MinE ALS Sequencing Consortium ^[3] ; Jan,Veldink ^[11] ; Arianna,Tucci ; Andrew J,Sharp

作者单位： Department of Genetics and Genomic Sciences and Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA. ^[1] Department of Neurology, UMC Utrecht Brain Center, Utrecht University, Utrecht, The Netherlands. ^[2] William Harvey Research Institute, Queen Mary University of London, London, UK. ^[3] William Harvey Research Institute, Queen Mary University of London, London, UK.;Department of Neuromuscular Diseases, Institute of Neurology, University College London, London, UK. ^[4] Pacific Biosciences, Menlo Park, CA, USA. ^[5] Department of Neuromuscular Diseases, Institute of Neurology, University College London, London, UK. ^[6] UC Santa Cruz Genomics Institute, University of California, Santa Cruz, CA, USA.;Northeastern University, Boston, MA, USA. ^[7] SW Thames Centre for Genomics, St George's University of London & St George's University Hospitals NHS, London, UK. ^[8] Wessex Clinical Genetics Service, University Hospital Southampton NHS Trust and Department of Human Genetics and Genomic Medicine, Southampton University, Southampton, UK. ^[9] UC Santa Cruz Genomics Institute, University of California, Santa Cruz, CA, USA. ^[10] Department of Genetics and Genomic Sciences and Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA. andrew.sharp@mssm.edu. ^[11]