换一批
第一作者：
Michael A,Gargano
第一单位：
The Jackson Laboratory for Genomic Medicine, Farmington, CT, USA.
作者：
Michael A,Gargano [1]
;
Nicolas,Matentzoglu [2]
;
Ben,Coleman [1]
;
Eunice B,Addo-Lartey [3]
;
Anna V,Anagnostopoulos [4]
;
Joel,Anderton [5]
;
Paul,Avillach [6]
;
Anita M,Bagley [7]
;
Eduard,Bakštein [8]
;
James P,Balhoff [9]
;
Gareth,Baynam [10]
;
Susan M,Bello [4]
;
Michael,Berk [11]
;
Holli,Bertram [12]
;
Somer,Bishop [13]
;
Hannah,Blau [1]
;
David F,Bodenstein [14]
;
Pablo,Botas [15]
;
Kaan,Boztug [16]
;
Jolana,Čady [17]
;
Tiffany J,Callahan [18]
;
Rhiannon,Cameron [19]
;
Seth J,Carbon [20]
;
Francisco,Castellanos [1]
;
J Harry,Caufield [20]
;
Lauren E,Chan [21]
;
Christopher G,Chute [22]
;
Jaime,Cruz-Rojo [23]
;
Noémi,Dahan-Oliel [24]
;
Jon R,Davids [7]
;
Maud,de Dieuleveult [25]
;
Vinicius,de Souza [26]
;
Bert B A,de Vries [27]
;
Esther,de Vries [28]
;
J Raymond,DePaulo [29]
;
Beata,Derfalvi [30]
;
Ferdinand,Dhombres [31]
;
Claudia,Diaz-Byrd [12]
;
Alexander J M,Dingemans [27]
;
Bruno,Donadille [32]
;
Michael,Duyzend [33]
;
Reem,Elfeky [34]
;
Shahim,Essaid [35]
;
Carolina,Fabrizzi [36]
;
Giovanna,Fico [37]
;
Helen V,Firth [38]
;
Yun,Freudenberg-Hua [39]
;
Janice M,Fullerton [40]
;
Davera L,Gabriel [41]
;
Kimberly,Gilmour [42]
;
Jessica,Giordano [43]
;
Fernando S,Goes [29]
;
Rachel Gore,Moses [44]
;
Ian,Green [45]
;
Matthias,Griese [46]
;
Tudor,Groza [10]
;
Weihong,Gu [47]
;
Julia,Guthrie [48]
;
Benjamin,Gyori [49]
;
Ada,Hamosh [50]
;
Marc,Hanauer [36]
;
Kateřina,Hanušová [17]
;
Yongqun Oliver,He [51]
;
Harshad,Hegde [20]
;
Ingo,Helbig [52]
;
Kateřina,Holasová [17]
;
Charles Tapley,Hoyt [49]
;
Shangzhi,Huang [47]
;
Eric,Hurwitz [53]
;
Julius O B,Jacobsen [54]
;
Xiaofeng,Jiang [47]
;
Lisa,Joseph [55]
;
Kamyar,Keramatian [56]
;
Bryan,King [13]
;
Katrin,Knoflach [46]
;
David A,Koolen [27]
;
Megan L,Kraus [53]
;
Carlo,Kroll [54]
;
Maaike,Kusters [42]
;
Markus S,Ladewig [57]
;
David,Lagorce [36]
;
Meng-Chuan,Lai [58]
;
Pablo,Lapunzina [59]
;
Bryan,Laraway [53]
;
David,Lewis-Smith [60]
;
Xiarong,Li [47]
;
Caterina,Lucano [36]
;
Marzieh,Majd [61]
;
Mary L,Marazita [5]
;
Victor,Martinez-Glez [62]
;
Toby H,McHenry [5]
;
Melvin G,McInnis [12]
;
Julie A,McMurry [53]
;
Michaela,Mihulová [63]
;
Caitlin E,Millett [64]
;
Philip B,Mitchell [65]
;
Veronika,Moslerová [63]
;
Kenji,Narutomi [66]
;
Shahrzad,Nematollahi [67]
;
Julian,Nevado [59]
;
Andrew A,Nierenberg [68]
;
Nikola Novák,Čajbiková [63]
;
John I,Nurnberger [69]
;
Soichi,Ogishima [70]
;
Daniel,Olson [71]
;
Abigail,Ortiz [72]
;
Harry,Pachajoa [73]
;
Guiomar,Perez de Nanclares [74]
;
Amy,Peters [75]
;
Tim,Putman [53]
;
Christina K,Rapp [46]
;
Ana,Rath [36]
;
Justin,Reese [20]
;
Lauren,Rekerle [1]
;
Angharad M,Roberts [76]
;
Suzy,Roy [45]
;
Stephan J,Sanders [77]
;
Catharina,Schuetz [78]
;
Eva C,Schulte [79]
;
Thomas G,Schulze [80]
;
Martin,Schwarz [63]
;
Katie,Scott [81]
;
Dominik,Seelow [82]
;
Berthold,Seitz [83]
;
Yiping,Shen [47]
;
Morgan N,Similuk [44]
;
Eric S,Simon [84]
;
Balwinder,Singh [85]
;
Damian,Smedley [54]
;
Cynthia L,Smith [4]
;
Jake T,Smolinsky [86]
;
Sarah,Sperry [12]
;
Elizabeth,Stafford [87]
;
Ray,Stefancsik [26]
;
Robin,Steinhaus [82]
;
Rebecca,Strawbridge [88]
;
Jagadish Chandrabose,Sundaramurthi [1]
;
Polina,Talapova [89]
;
Jair A,Tenorio Castano [59]
;
Pavel,Tesner [63]
;
Rhys H,Thomas [60]
;
Audrey,Thurm [55]
;
Marek,Turnovec [63]
;
Marielle E,van Gijn [90]
;
Nicole A,Vasilevsky [91]
;
Markéta,Vlčková [63]
;
Anita,Walden [35]
;
Kai,Wang [47]
;
Ron,Wapner [43]
;
James S,Ware [76]
;
Addo A,Wiafe [3]
;
Samuel A,Wiafe [3]
;
Lisa D,Wiggins [92]
;
Andrew E,Williams [89]
;
Chen,Wu [47]
;
Margot J,Wyrwoll [93]
;
Hui,Xiong [47]
;
Nefize,Yalin [88]
;
Yasunori,Yamamoto [94]
;
Lakshmi N,Yatham [56]
;
Anastasia K,Yocum [12]
;
Allan H,Young [95]
;
Zafer,Yüksel [96]
;
Peter P,Zandi [29]
;
Andreas,Zankl [97]
;
Ignacio,Zarante [98]
;
Miroslav,Zvolský [17]
;
Sabrina,Toro [53]
;
Leigh C,Carmody [1]
;
Nomi L,Harris [20]
;
Monica C,Munoz-Torres [35]
;
Daniel,Danis [1]
;
Christopher J,Mungall [20]
;
Sebastian,Köhler [99]
;
Melissa A,Haendel [53]
;
Peter N,Robinson [1]
作者单位：
The Jackson Laboratory for Genomic Medicine, Farmington, CT, USA.
[1]
Semanticly, Athens, Greece.
[2]
Rare Disease Ghana Initiative, Accra, Ghana.
[3]
The Jackson Laboratory, Bar Harbor, ME, USA.
[4]
Center for Craniofacial and Dental Genetics, Department of Oral and Craniofacial Sciences, School of Dental Medicine, University of Pittsburgh, Pittsburgh, PA, USA.
[5]
Harvard Medical School, Boston, MA, USA.
[6]
Shriners Children's Northern California, Sacramento, CA, USA.
[7]
National Institute of Mental Health, Klecany, Czech Republic.
[8]
Renaissance Computing Institute, University of North Carolina, Chapel Hill, NC 27517, USA.
[9]
Rare Care Centre, Perth Children's Hospital, Perth, Australia.
[10]
Deakin University, IMPACT - the Institute for Mental and Physical Health and Clinical Translation, School of Medicine, Barwon Health, Geelong, Australia.
[11]
Department of Psychiatry, University of Michigan, Ann Arbor, MI, USA.
[12]
Department of Psychiatry and Behavioral Sciences, UCSF Weil Institute for Neuroscience, San Francisco, CA, USA.
[13]
Department of Pharmacology and Toxicology, University of Toronto, Toronto, ON, Canada.
[14]
Nostos Genomics GmbH, Berlin, Germany.
[15]
St. Anna Children's Cancer Research Institute (CCRI), Vienna, Austria.
[16]
Institute of Health Information and Statistics of the Czech Republic, Prague, Czech Republic.
[17]
Department of Biomedical Informatics, Columbia University Irving Medical Center, NY, NY, USA.
[18]
Simon Fraser University, Burnaby, BC, Canada.
[19]
Division of Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, Berkeley, CA 94720, USA.
[20]
College of Public Health and Human Sciences, Oregon State University, Corvallis, OR 97331, USA.
[21]
Schools of Medicine, Public Health, and Nursing, Johns Hopkins University, Baltimore, MD 21287, USA.
[22]
UDISGEN (Dysmorphology and Genetics Unit), 12 de Octubre Hospital, Madrid, Spain.
[23]
Department of Clinical Research, Shriners Hospitals for Children, Montreal, Quebec, Canada.
[24]
Département I&D, AP-HP, Banque Nationale de Données Maladies Rares, Paris, France.
[25]
European Bioinformatics Institute (EMBL-EBI), Wellcome Genome Campus, Hinxton CB10 1SD, UK.
[26]
Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, Netherlands.
[27]
Tranzo, TSB, Tilburg University, Netherlands.
[28]
Department of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.
[29]
Department of Pediatrics, Dalhousie University, Halifax, NS, Canada.
[30]
Fetal Medicine Department, Armand Trousseau Hospital, Sorbonne University, GRC26, INSERM, Limics, Paris, France.
[31]
St Antoine Hospital, Reference Center for Rare Growth Endocrine Disorders, Sorbonne University, AP-HP, INSERM, US14 - Orphanet, Plateforme Maladies Rares, Paris, France.
[32]
Massachusetts General Hospital, Boston, MA, USA.
[33]
Department of Immunology, GOS Hospital for Children NHS Foundation Trust, University College London, London, UK.
[34]
Department of Biomedical Informatics, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.
[35]
INSERM, US14 - Orphanet, Plateforme Maladies Rares, Paris, France.
[36]
Bipolar and Depressive Disorders Unit, Institute of Neuroscience, Hospital Clinic, University of Barcelona, IDIBAPS, CIBERSAM, Barcelona, Catalonia, Spain.
[37]
Addenbrooke's Hospital, Cambridge University Hospitals, Cambridge, UK.
[38]
Department of Psychiatry, Feinstein Institutes for Medical Research, Northwell Health, Manhasset, NY, USA.
[39]
Neuroscience Research Australia, Sydney, NSW, Australia.
[40]
School of Medicine, Johns Hopkins University, Baltimore, MD 21287, USA.
[41]
Immunology, NIHR Great Ormond Street Hospital BRC, London, UK.
[42]
Department of Obstetrics and Gynecology, Columbia University Irving Medical Center, New York, NY, USA.
[43]
National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892, USA.
[44]
SNOMED International, London W2 6BD, UK.
[45]
Department of Pediatrics, Dr. von Hauner Children's Hospital, University Hospital, LMU Munich, German center for Lung research (DZL), Munich, Germany.
[46]
Chinese HPO Consortium, Beijing, China.
[47]
Department of Structural and Computational Biology, University of Vienna; Max Perutz Labs, Vienna, Austria.
[48]
Khoury College of Computer Sciences, Northeastern University, Boston, MA, USA.
[49]
Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.
[50]
University of Michigan Medical School, Ann Arbor, MI, USA.
[51]
Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
[52]
University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.
[53]
William Harvey Research Institute, Queen Mary University of London, London, UK.
[54]
Neurodevelopmental and Behavioral Phenotyping Service, National Institute of Mental Health, Bethesda, MD, USA.
[55]
Department of Psychiatry, University of British Columbia, Vancouver, BC, Canada.
[56]
Department of Ophthalmology, University Clinic Marburg - Campus Fulda, Fulda, Germany.
[57]
Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, Toronto, ON, Canada.
[58]
Institute of Medical and Molecular Genetics, Hospital Univ. La Paz, Madrid, Spain.
[59]
Translational and Clinical Research Institute, Henry Wellcome Building, Framlington Place, Newcastle University, Newcastle-Upon-Tyne NE14LP, UK.
[60]
Department of Psychiatry, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA.
[61]
Center for Genomic Medicine, Parc Taulí Hospital Universitari, Institut d'Investigació i Innovació Parc Taulí (I3PT-CERCA), Sabadell, Spain.
[62]
Department of Biology and Medical Genetics, 2nd Medical Faculty of Charles University and University Hospital Motol, Prague, Czech Republic.
[63]
Feinstein Institutes for Medical Research, Northwell Health, Manhasset, NY, USA.
[64]
Discipline of Psychiatry & Mental Health, School of Clinical Medicine, Faculty of Medicine & Health, University of New South Wales, Sydney, NSW, Australia.
[65]
Okinawa Prefectural Nanbu Medical Center & Children's Medical Center.
[66]
School of Physical and Occupational Therapy, McGill University, Montreal, Quebec, Canada.
[67]
Dauten Family Center for Bipolar Treatment Innovation, Massachusetts General Hospital, Boston, MA, USA.
[68]
Stark Neurosciences Research Institute, Departments of Psychiatry and Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, USA.
[69]
INGEM/ToMMo, Tohoku University, Sendai, Japan.
[70]
Data Collaboration Center, Data Science, Critical Path Institute, Tucson, AZ, USA.
[71]
Department of Psychiatry, University of Toronto, Toronto, ON, Canada.
[72]
Centro de Investigaciones en Anomalías Congénitas y Enfermedades Raras (CIACER), Universidad Icesi, Cali, Colombia.
[73]
Molecular (epi) genetics lab, Bioaraba Health Research Institute, Araba University Hospital, Vitoria-Gasteiz, Spain.
[74]
Department of Psychiatry, Massachusetts General Hospital, Boston, MA, USA.
[75]
National Heart & Lung Institute & MRC London Institute of Medical Sciences, Imperial College London, London W12 0HS, UK.
[76]
Department of Paediatrics, Institute of Developmental and Regenerative Medicine, University of Oxford, Oxford, UK.
[77]
Universitätsklinikum Carl Gustav Carus, Medizinische Fakultät, TU, Dresden, Germany.
[78]
Institute of Psychiatric Phenomics and Genomics (IPPG), LMU University Hospital, LMU Munich, Munich, Germany.
[79]
Department of Psychiatry and Behavioral Sciences, SUNY Upstate Medical University, Syracuse, NY, USA.
[80]
Department of Psychiatry, Dalhousie University, Halifax, NS, Canada.
[81]
Exploratory Diagnostic Sciences, Berliner Institut für Gesundheitsforschung - Charité, Berlin, Germany.
[82]
Department of Ophthalmology, Saarland University Medical Center UKS, Homburg/Saar, Germany.
[83]
Eisenberg Family Depression Center, University of Michigan, Ann Arbor, MI, USA.
[84]
Department of Psychiatry and Psychology, Mayo Clinic, Rochester, MN, USA.
[85]
Human Genetics Institute of New Jersey, Rutgers University, Piscataway, NJ, USA.
[86]
The National Alliance on Mental Illness, Arlington, VA, USA.
[87]
Department of Psychological Medicine, Institute of Psychiatry, Psychology & Neuroscience, King's College London, London, UK.
[88]
Institute for Research and Health Policy Studies, Tufts Medicine, Boston, MA 2111, USA.
[89]
Department of Genetics, University Medical Center Groningen, Groningen, Netherlands.
[90]
Critical Path Institute, Tucson, AZ, USA.
[91]
National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, GA, USA.
[92]
Centre for Regenerative Medicine, Institute for Regeneration and Repair, Institute for Stem Cell Research, University of Edinburgh, Edinburgh, UK.
[93]
Database Center for Life Science, Joint Support-Center for Data Science Research, Research Organization of Information and Systems, Japan.
[94]
Psychological Medicine, Institute of Psychiatry, Psychology and Neuroscience, King's College London & South London and Maudsley NHS Foundation Trust, Bethlem Royal Hospital, Monks Orchard Road, Beckenham, Kent, London SE5 8AF, UK.
[95]
Department of Human Genetics, Bioscientia Healthcare GmbH, Ingelheim, Germany.
[96]
Faculty of Medicine and Health, The University of Sydney, Camperdown, Australia.
[97]
Institute of Human Genetics, Pontificia Universidad Javeriana, Bogotá, Colombia.
[98]
Ada Health GmbH, Berlin, Germany.
[99]
DOI
10.1093/nar/gkad1005
PMID
37953324
发布时间
2025-09-01
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Nucleic acids research
Nucleic acids research
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