第一单位：
South East Scotland Genetic Service, Western General Hospital, Edinburgh, UK.;MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK.;These authors contributed equally.
作者：
Morad,Ansari [1]
;
Kamli N W,Faour [2]
;
Akiko,Shimamura [3]
;
Graeme,Grimes [4]
;
Emeline M,Kao [5]
;
Erica R,Denhoff [5]
;
Ana,Blatnik [6]
;
Daniel,Ben-Isvy [7]
;
Lily,Wang [7]
;
Benjamin M,Helm [8]
;
Helen,Firth [9]
;
Amy M,Breman [8]
;
Emilia K,Bijlsma [10]
;
Aiko,Iwata-Otsubo [8]
;
Thomy J L,de Ravel [11]
;
Vincent,Fusaro [12]
;
Alan,Fryer [13]
;
Keith,Nykamp [12]
;
Lara G,Stühn [14]
;
Tobias B,Haack [14]
;
G Christoph,Korenke [15]
;
Panayiotis,Constantinou [16]
;
Kinga M,Bujakowska [17]
;
Karen J,Low [18]
;
Emily,Place [17]
;
Jennifer,Humberson [19]
;
Melanie P,Napier [20]
;
Jessica,Hoffman [20]
;
Jane,Juusola [20]
;
Matthew A,Deardorff [21]
;
Wanqing,Shao [22]
;
Shira,Rockowitz [23]
;
Ian,Krantz [24]
;
Maninder,Kaur [24]
;
Sarah,Raible [24]
;
Sabine,Kliesch [25]
;
Moriel,Singer-Berk [26]
;
Emily,Groopman [27]
;
Stephanie,DiTroia [26]
;
Sonia,Ballal [28]
;
Siddharth,Srivastava [29]
;
Kathrin,Rothfelder [30]
;
Saskia,Biskup [31]
;
Jessica,Rzasa [32]
;
Jennifer,Kerkhof [32]
;
Haley,McConkey [32]
;
Anne,O'Donnell-Luria [33]
;
Bekim,Sadikovic [32]
;
Sarah,Hilton [34]
;
Siddharth,Banka [34]
;
Frank,Tüttelmann [35]
;
Donald,Conrad [36]
;
Michael E,Talkowski [37]
;
David R,FitzPatrick [38]
;
Philip M,Boone [39]
作者单位：
South East Scotland Genetic Service, Western General Hospital, Edinburgh, UK.;MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK.;These authors contributed equally.
[1]
Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, US.;Cornelia de Lange Syndrome and Related Disorders Clinic, Boston Children's Hospital, Boston, MA, US.;These authors contributed equally.
[2]
Division of Hematology and Oncology, Boston Children's Hospital, Boston, MA, US.
[3]
MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK.
[4]
Institutional Centers for Clinical and Translational Research, Boston Children's Hospital, Boston, MA, US.
[5]
MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK.;Department of Clinical Cancer Genetics, Institute of Oncology Ljubljana, Ljubljana, SI.
[6]
Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, US.;Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, US.;Division of Medical Sciences, Harvard Medical School, Boston, MA, US.
[7]
Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, US.
[8]
Clinical Genetics, Addenbrooke's Hospital, Cambridge University Hospitals, Cambridge, UK.
[9]
Department of Clinical Genetics, Leiden University Medical Centre, Leiden, NL.
[10]
Centre for Human Genetics, UZ Leuven/ Leuven University Hospitals, Leuven, BE.
[11]
Invitae, San Francisco, CA, US.
[12]
Department of Clinical Genetics, Alder Hey Children's Hospital Liverpool, Liverpool, UK.
[13]
Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, DE.
[14]
University Children's Hospital Oldenburg, Department of Neuropaediatric and Metabolic Diseases, University Children's Hospital Oldenburg, Oldenburg, DE.
[15]
West of Scotland Centre for Genomic Medicine, Queen Elizabeth University Hospital, Glasgow, UK.
[16]
Massachusetts Eye and Ear Infirmary, Boston, MA, US.
[17]
University Hospitals Bristol and Weston NHS Foundation Trust, Bristol, UK.;University of Bristol, Bristol, UK.
[18]
University of Virginia Health System, Charlottesville, VA, US.
[19]
GeneDx, Gaithersburg, MD, US.
[20]
Departments of Pathology and Pediatrics, Children's Hospital Los Angeles and University of Southern California, Los Angeles, CA, US.
[21]
Research Computing, Information Technology, Boston Children's Hospital, Boston, MA, US.
[22]
Research Computing, Information Technology, Boston Children's Hospital, Boston, MA, US.;The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, US.;Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, US.
[23]
Children's Hospital of Philadelphia, Philadelphia, PA, US.
[24]
Department of Clinical and Surgical Andrology, Centre of Reproductive Medicine and Andrology, University Hospital Münster, Münster, DE.
[25]
Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, US.
[26]
Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, US.;Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, US.
[27]
Cornelia de Lange Syndrome and Related Disorders Clinic, Boston Children's Hospital, Boston, MA, US.;Division of Gastroenterology, Boston Children's Hospital, Boston, MA, US.
[28]
Cornelia de Lange Syndrome and Related Disorders Clinic, Boston Children's Hospital, Boston, MA, US.;Divison of Neurology, Boston Children's Hospital, Boston, MA, US.
[29]
Zentrum für Humangenetik, Tübingen, DE.
[30]
Zentrum für Humangenetik, Tübingen, DE.;Center for Genomics and Transcriptomics (CeGaT), Tübingen, DE.
[31]
Molecular Diagnostics Program and Verspeeten Clinical Genome Centre, LHSC, London, CA.
[32]
Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, US.;Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, US.;Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, US.
[33]
Manchester University, Manchester, UK.
[34]
Institute of Reproductive Genetics, University of Münster, Münster, DE.
[35]
Division of Genetics, Oregon National Primate Research Center, Oregon Health and Science University, Portland, OR, US.;Center for Embryonic Cell and Gene Therapy, Oregon Health and Science University, Portland, OR, US.
[36]
Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, US.;Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, US.
[37]
MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK.;These authors contributed equally.
[38]
Cornelia de Lange Syndrome and Related Disorders Clinic, Boston Children's Hospital, Boston, MA, US.;Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, US.;Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, US.;Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, US.;These authors contributed equally.
[39]
DOI
10.1101/2023.09.27.23294269
PMID
37808847
发布时间
2024-02-15
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