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Genomic architecture of autism from comprehensive whole-genome sequence annotation.

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第一作者: Brett,Trost
第一单位: The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada; Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.
作者: Brett,Trost [1] ; Bhooma,Thiruvahindrapuram [2] ; Ada J S,Chan [1] ; Worrawat,Engchuan [1] ; Edward J,Higginbotham [1] ; Jennifer L,Howe [2] ; Livia O,Loureiro [1] ; Miriam S,Reuter [3] ; Delnaz,Roshandel [4] ; Joe,Whitney [2] ; Mehdi,Zarrei [1] ; Matthew,Bookman [5] ; Cherith,Somerville [6] ; Rulan,Shaath [2] ; Mona,Abdi [7] ; Elbay,Aliyev [8] ; Rohan V,Patel [2] ; Thomas,Nalpathamkalam [2] ; Giovanna,Pellecchia [2] ; Omar,Hamdan [2] ; Gaganjot,Kaur [2] ; Zhuozhi,Wang [2] ; Jeffrey R,MacDonald [2] ; John,Wei [2] ; Wilson W L,Sung [2] ; Sylvia,Lamoureux [2] ; Ny,Hoang [9] ; Thanuja,Selvanayagam [10] ; Nicole,Deflaux [5] ; Melissa,Geng [11] ; Siavash,Ghaffari [1] ; John,Bates [5] ; Edwin J,Young [12] ; Qiliang,Ding [6] ; Carole,Shum [1] ; Lia,D'Abate [1] ; Clarrisa A,Bradley [13] ; Annabel,Rutherford [14] ; Vernie,Aguda [2] ; Beverly,Apresto [2] ; Nan,Chen [2] ; Sachin,Desai [2] ; Xiaoyan,Du [2] ; Matthew L Y,Fong [2] ; Sanjeev,Pullenayegum [2] ; Kozue,Samler [2] ; Ting,Wang [2] ; Karen,Ho [2] ; Tara,Paton [2] ; Sergio L,Pereira [2] ; Jo-Anne,Herbrick [2] ; Richard F,Wintle [2] ; Jonathan,Fuerth [15] ; Juti,Noppornpitak [15] ; Heather,Ward [15] ; Patrick,Magee [15] ; Ayman,Al Baz [15] ; Usanthan,Kajendirarajah [15] ; Sharvari,Kapadia [15] ; Jim,Vlasblom [15] ; Monica,Valluri [15] ; Joseph,Green [15] ; Vicki,Seifer [16] ; Morgan,Quirbach [16] ; Olivia,Rennie [2] ; Elizabeth,Kelley [17] ; Nina,Masjedi [18] ; Catherine,Lord [18] ; Michael J,Szego [19] ; Ma'n H,Zawati [20] ; Michael,Lang [20] ; Lisa J,Strug [21] ; Christian R,Marshall [22] ; Gregory,Costain [23] ; Kristina,Calli [24] ; Alana,Iaboni [25] ; Afiqah,Yusuf [26] ; Patricia,Ambrozewicz [27] ; Louise,Gallagher [28] ; David G,Amaral [29] ; Jessica,Brian [30] ; Mayada,Elsabbagh [26] ; Stelios,Georgiades [31] ; Daniel S,Messinger [32] ; Sally,Ozonoff [29] ; Jonathan,Sebat [33] ; Calvin,Sjaarda [34] ; Isabel M,Smith [35] ; Peter,Szatmari [36] ; Lonnie,Zwaigenbaum [37] ; Azadeh,Kushki [38] ; Thomas W,Frazier [39] ; Jacob A S,Vorstman [40] ; Khalid A,Fakhro [41] ; Bridget A,Fernandez [42] ; M E Suzanne,Lewis [24] ; Rosanna,Weksberg [43] ; Marc,Fiume [15] ; Ryan K C,Yuen [11] ; Evdokia,Anagnostou [30] ; Neal,Sondheimer [44] ; David,Glazer [5] ; Dean M,Hartley [16] ; Stephen W,Scherer [45]
作者单位: The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada; Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada. [1] The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada. [2] The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada; Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada; CGEn, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada. [3] Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada. [4] Verily Life Sciences, South San Francisco, CA 94080, USA. [5] Ted Rogers Centre for Heart Research, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada. [6] Department of Human Genetics, Sidra Medicine, Doha, Qatar; College of Health and Life Sciences, Hamad Bin Khalifa University, Doha, Qatar. [7] Department of Human Genetics, Sidra Medicine, Doha, Qatar. [8] Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada; Autism Research Unit, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A8, Canada; Department of Genetic Counselling, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada. [9] Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada; Autism Research Unit, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada; Department of Genetic Counselling, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada. [10] Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A8, Canada. [11] Genome Diagnostics, Department of Paediatric Medicine, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada; Department of Laboratory Medicine and Pathobiology, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada. [12] Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada; Neurosciences and Mental Health, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada. [13] The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada; Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A8, Canada. [14] DNAstack, Toronto, ON M5H 1T1, Canada. [15] Autism Speaks, Princeton, NJ 08540, USA. [16] Department of Psychology, Queen's University, Kingston, ON K7L 3N6, Canada; Department of Psychiatry, Queen's University, Kingston, ON K7L 7X3, Canada. [17] Semel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, Los Angeles, CA 90024, USA. [18] Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A8, Canada; Department of Family and Community Medicine, University of Toronto, Toronto, ON M5G 1V7, Canada; Dalla Lana School of Public Health, University of Toronto, Toronto, ON M5T 3M7, Canada. [19] Department of Human Genetics, McGill University, Montreal, QC H3A 0C7, Canada. [20] Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada; Department of Statistical Sciences, University of Toronto, Toronto, ON M5S 3G3, Canada. [21] Genome Diagnostics, Department of Paediatric Medicine, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada; Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON M5S 1A8, Canada. [22] Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada; Department of Pediatrics, University of Toronto, Toronto, ON M5G 1X8, Canada. [23] Department of Medical Genetics, University of British Columbia, Vancouver, BC V6H 3N1, Canada; BC Children's Hospital Research Institute, Vancouver, BC V5Z 4H4, Canada. [24] Holland Bloorview Kids Rehabilitation Hospital, Toronto, ON M4G 1R8, Canada. [25] Montreal Neurological Institute, McGill University, Montreal, QC H3A 2B4, Canada. [26] Autism Research Unit, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada; Department of Psychology, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada. [27] Department of Psychiatry, School of Medicine, Trinity College Dublin, Dublin 2, Ireland; Department of Psychiatry, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada; Child, Youth and Family Services, The Centre for Addiction and Mental Health, Toronto, ON M6J 1H4, Canada; Department of Psychiatry, University of Toronto, Toronto, ON M5T 1R8, Canada. [28] MIND Institute, University of California, Davis, Sacramento, CA 95817, USA; Department of Psychiatry and Behavioral Sciences, University of California, Davis, Sacramento, CA 95817, USA. [29] Department of Pediatrics, University of Toronto, Toronto, ON M5G 1X8, Canada; Holland Bloorview Kids Rehabilitation Hospital, Toronto, ON M4G 1R8, Canada. [30] Department of Psychiatry and Behavioural Neurosciences, McMaster University, Hamilton, ON L8N 3K7, Canada. [31] Department of Psychology, University of Miami, Miami, FL 33124, USA. [32] Department of Psychiatry and Department of Cellular and Molecular Medicine, University of California, San Diego, La Jolla, CA 92093, USA. [33] Department of Psychiatry, Queen's University, Kingston, ON K7L 7X3, Canada; Queen's Genomics Lab at Ongwanada, Queen's University, Kingston, ON K7M 8A6, Canada. [34] Department of Pediatrics, Dalhousie University, Halifax, NS B3H 4R2, Canada; IWK Health Centre, Halifax, NS B3K 6R8, Canada. [35] Department of Psychiatry, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada; Department of Psychiatry, University of Toronto, Toronto, ON M5T 1R8, Canada; Centre for Addiction and Mental Health, Toronto, ON M6J 1H4, Canada. [36] Department of Pediatrics, University of Alberta, Edmonton, AB T6G 1C9, Canada. [37] Holland Bloorview Kids Rehabilitation Hospital, Toronto, ON M4G 1R8, Canada; Institute of Biomedical Engineering, University of Toronto, Toronto, ON M5S 3G9, Canada. [38] Autism Speaks, Princeton, NJ 08540, USA; Department of Psychology, John Carroll University, Cleveland, OH 44118, USA. [39] Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada; Department of Psychiatry, University of Toronto, Toronto, ON M5T 1R8, Canada. [40] Department of Human Genetics, Sidra Medicine, Doha, Qatar; College of Health and Life Sciences, Hamad Bin Khalifa University, Doha, Qatar; Department of Genetic Medicine, Weill Cornell Medical College in Qatar, Doha, Qatar. [41] Department of Pediatrics, Children's Hospital Los Angeles, Los Angeles, CA 90027, USA; Keck School of Medicine of USC, University of Southern California, Los Angeles, CA 90033, USA. [42] Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada; Department of Pediatrics, University of Toronto, Toronto, ON M5G 1X8, Canada. [43] Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A8, Canada; Department of Pediatrics, University of Toronto, Toronto, ON M5G 1X8, Canada. [44] The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada; Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A8, Canada; McLaughlin Centre, Toronto, ON M5G 0A4, Canada. Electronic address: stephen.scherer@sickkids.ca. [45]
DOI 10.1016/j.cell.2022.10.009
PMID 36368308
发布时间 2023-12-19
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Cell

Cell

2022年185卷23期

4409-4427.e18页

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