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作者：
Agustí,Rodríguez-Palmero [1]
;
Melissa Maria,Boerrigter [2]
;
David,Gómez-Andrés [3]
;
Kimberly A,Aldinger [4]
;
Íñigo,Marcos-Alcalde [5]
;
Bernt,Popp [6]
;
David B,Everman [7]
;
Alysia Kern,Lovgren [8]
;
Stephanie,Arpin [9]
;
Vahid,Bahrambeigi [10]
;
Gea,Beunders [11]
;
Anne-Marie,Bisgaard [12]
;
V A,Bjerregaard [13]
;
Ange-Line,Bruel [11]
;
Thomas D,Challman [14]
;
Benjamin,Cogné [15]
;
Christine,Coubes [16]
;
Stella A,de Man [3]
;
Anne-Sophie,Denommé-Pichon [17]
;
Thomas J,Dye [18]
;
Frances,Elmslie [19]
;
Lars,Feuk [20]
;
Sixto,García-Miñaúr [21]
;
Tracy,Gertler [22]
;
Elisa,Giorgio [17]
;
Nicolas,Gruchy [23]
;
Tobias B,Haack [24]
;
Chad R,Haldeman-Englert [25]
;
Bjørn Ivar,Haukanes [26]
;
Juliane,Hoyer [27]
;
Anna C E,Hurst [28]
;
Bertrand,Isidor [29]
;
Maria Johansson,Soller [30]
;
Sulagna,Kushary [31]
;
Malin,Kvarnung [32]
;
Yuval E,Landau [33]
;
Kathleen A,Leppig [9]
;
Anna,Lindstrand [34]
;
Lotte,Kleinendorst [19]
;
Alex,MacKenzie [20]
;
Giorgia,Mandrile [35]
;
Bryce A,Mendelsohn [36]
;
Setareh,Moghadasi [37]
;
Jenny E,Morton [35]
;
Sebastien,Moutton [36]
;
Amelie J,Müller [38]
;
Melanie,O'Leary [39]
;
Marta,Pacio-Míguez [40]
;
Maria,Palomares-Bralo [41]
;
Sumit,Parikh [35]
;
Rolph,Pfundt [36]
;
Ben,Pode-Shakked [42]
;
Anita,Rauch [43]
;
Elena,Repnikova [44]
;
Anya,Revah-Politi [45]
;
Meredith J,Ross [46]
;
Claudia A L,Ruivenkamp [47]
;
Elisabeth,Sarrazin [17]
;
Juliann M,Savatt [48]
;
Agatha,Schlüter [31]
;
Bitten,Schönewolf-Greulich [12]
;
Zohra,Shad [27]
;
Charles,Shaw-Smith [27]
;
Joseph T,Shieh [49]
;
Motti,Shohat [50]
;
Stephanie,Spranger [40]
;
Heidi,Thiese [51]
;
Frederic Tran,Mau-Them [50]
;
Bregje,van Bon [52]
;
Ineke,van de Burgt [53]
;
Ingrid M B H,van de Laar [54]
;
Esmée,van Drie [36]
;
Mieke M,van Haelst [55]
;
Conny M,van Ravenswaaij-Arts [56]
;
Edgard,Verdura [46]
;
Antonio,Vitobello [57]
;
Stephan,Waldmüller [18]
;
Sharon,Whiting [1]
;
Christiane,Zweier [3]
;
Carlos E,Prada [58]
;
Bert B A,de Vries [59]
;
William B,Dobyns [60]
;
Simone F,Reiter [61]
;
Paulino,Gómez-Puertas [62]
;
Aurora,Pujol [41]
;
Zeynep,Tümer [17]
作者单位：
Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), L'Hospitalet de Llobregat, Barcelona, and Center for Biomedical Research on Rare Diseases (CIBERER), Madrid, Spain.
[1]
Paediatric Neurology Unit, Hospital Universitari Germans Trias i Pujol, Universitat Autònoma de Barcelona, Barcelona, Spain.
[2]
Kennedy Center, Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.
[3]
Department of Gastroenterology and Hepatology, Radboud University Medical Center, Nijmegen, The Netherlands.
[4]
Child Neurology Unit. Hospital Universitari Vall d'Hebron, Vall d'Hebron Research Institute (VHIR), Barcelona, Spain.
[5]
Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA.
[6]
Molecular Modelling Group, Severo Ochoa Molecular Biology Centre (CBM SO, CSIC-UAM), Madrid, Spain.
[7]
Bioscience Research Institute, School of Experimental Sciences, Francisco de Vitoria University, Pozuelo de Alarcón, Spain.
[8]
Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany.
[9]
Institute of Human Genetics, University of Leipzig Hospitals and Clinics, Leipzig, Germany.
[10]
Greenwood Genetic Center, Greenwood, SC, USA.
[11]
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
[12]
Service de génétique, CHU de Tours, UMR 1253, iBrain, Université de Tours, Inserm, Tours, France.
[13]
Graduate School of Biomedical Sciences, The University of Texas, MD Anderson Cancer Center UTHealth, Houston, TX, USA.
[14]
Department of Genetics, University Medical Center Groningen, Groningen, The Netherlands.
[15]
Center for Rett syndrome, Department of Pediatrics and Adolescent Medicine, Copenhagen University Hospital, Rigshospitalet, Denmark.
[16]
INSERM UMR1231, GAD, University of Burgundy, FHU-TRANSLAD, CHU Dijon-Bourgogne, Dijon, France.
[17]
Geisinger Autism & Developmental Medicine Institute, Lewisburg, PA, USA.
[18]
Service de Génétique Médicale, CHU Nantes, Nantes, France.
[19]
Université de Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France.
[20]
Département de Génétique Médicale, Maladies rares et Médecine personnalisée, CHU Montpellier, France.
[21]
Department of Pediatrics, Amphia Hospital, Breda, The Netherlands.
[22]
Division of Neurology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.
[23]
Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, USA.
[24]
South West Thames Regional Genetics Service, St George's University Hospitals, University of London, London, United Kingdom.
[25]
Science for Life Laboratory, Department of Immunology, Genetics and Pathology, Uppsala University, Uppsala, Sweden.
[26]
Institute of Medical and Molecular Genetics (INGEMM), La Paz University Hospital, Madrid, Spain.
[27]
Division of Neurology, Department of Pediatrics, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA.
[28]
Department of Medical Sciences, University of Turin, Torino, Italy.
[29]
Service de Génétique, CHU Caen Clemenceau, Biotargen, Univ Caen, France.
[30]
Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
[31]
Mission Fullerton Genetics Center, Asheville, NC, USA.
[32]
Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway.
[33]
Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, USA.
[34]
Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
[35]
Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
[36]
Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, NY, USA.
[37]
Leumit Health Care Services, Tel-Aviv, Israel.
[38]
Metabolic Disease Service, Schneider Children's Medical Center of Israel, Tel-Aviv, Israel.
[39]
Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.
[40]
Genetic Services, Kaiser Permanente of Washington, Seattle, WA, USA.
[41]
Department of Clinical Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.
[42]
Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, Canada.
[43]
Thalassemia Centre and Genetic Unit, San Luigi University Hospital, Orbassano, Italy.
[44]
Department of Pediatrics, Division of Medical Genetics, University of California, San Francisco, CA, USA.
[45]
Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
[46]
West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham Women's and Children's Hospitals NHS Foundation Trust, Birmingham Women's Hospital, Birmingham, United Kingdom.
[47]
CPDPN, Pôle mère enfant, Maison de Santé Protestante Bordeaux Bagatelle, Talence, France.
[48]
Mitochondrial Medicine & Neurogenetics, Cleveland Clinic, Cleveland, OH, USA.
[49]
Genomic Unit, Sheba Cancer Research Center, Sheba Medical Center, Tel-Hashomer, Israel.
[50]
Institute of Rare Diseases, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Israel.
[51]
Wohl Institute for Translational Medicine and Cancer Research Center, Sheba Medical Center, Tel-Hashomer, Israel.
[52]
Institute of Medical Genetics, University of Zurich, Schlieren, Switzerland.
[53]
Division of Clinical Laboratory Genetics & Genomics, Children's Mercy Hospital, Kansas City, MO, USA.
[54]
Precision Genomics Laboratory, Columbia University Irving Medical Center, New York, NY, USA.
[55]
Department of Pediatrics, Columbia University Medical Center, NewYork-Presbyterian Hospital, New York, NY, USA.
[56]
Centre de Référence des Maladies rares neuromusculaires AOC, Hôpital Pierre Zobda Quitman, CHU Martinique, Fort de France, Martinique.
[57]
Cook Children's Medical Center Genetics, Fort Worth, TX, USA.
[58]
Department of Clinical Genetics, Royal Devon and Exeter NHS Foundation Trust, Exeter, United Kingdom.
[59]
Institute for Human Genetics, University of California San Francisco, San Francisco, CA, USA.
[60]
Bioinformatics unit, Cancer Research Center, Sheba Medical Center and Sackler Medical Center, Tel Aviv University and Maccabi HMO, Tel Aviv, Israel.
[61]
Praxis fuer Humangenetik, Klinikum Bremen-Mitte, Bremen, Germany.
[62]
Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
[63]
Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.
[64]
Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.
[65]
Department of Pediatrics, University of Washington, Seattle, WA, USA.
[66]
Department of Neurology, University of Washington, Seattle, WA, USA.
[67]
Catalan Institution for Research and Advanced Studies (ICREA), Barcelona, Spain.
[68]
Kennedy Center, Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark. Zeynep.tumer@regionh.dk.
[69]
Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark. Zeynep.tumer@regionh.dk.
[70]
DOI
10.1038/s41436-020-01075-9
PMID
33597769
发布时间
2022-05-31
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Genetics in medicine
Genetics in medicine
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