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PEDIA: prioritization of exome data by image analysis.

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第一作者: Tzung-Chien,Hsieh
第一单位: Institute of Genomic Statistics and Bioinformatics, University of Bonn, Bonn, Germany.;Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Institute of Medical Genetics and Human Genetics, Berlin, Germany.;Berlin Institute of Health (BIH), Berlin, Germany.
作者: Tzung-Chien,Hsieh [1] ; Martin A,Mensah [2] ; Jean T,Pantel [1] ; Dione,Aguilar [3] ; Omri,Bar [4] ; Allan,Bayat [5] ; Luis,Becerra-Solano [6] ; Heidi B,Bentzen [7] ; Saskia,Biskup [8] ; Oleg,Borisov [9] ; Oivind,Braaten [10] ; Claudia,Ciaccio [11] ; Marie,Coutelier [12] ; Kirsten,Cremer [13] ; Magdalena,Danyel [12] ; Svenja,Daschkey [14] ; Hilda David,Eden [4] ; Koenraad,Devriendt [15] ; Sandra,Wilson [16] ; Sofia,Douzgou [17] ; Dejan,Đukić [9] ; Nadja,Ehmke [12] ; Christine,Fauth [18] ; Björn,Fischer-Zirnsak [12] ; Nicole,Fleischer [4] ; Heinz,Gabriel [19] ; Luitgard,Graul-Neumann [12] ; Karen W,Gripp [20] ; Yaron,Gurovich [4] ; Asya,Gusina [21] ; Nechama,Haddad [12] ; Nurulhuda,Hajjir [12] ; Yair,Hanani [4] ; Jakob,Hertzberg [12] ; Konstanze,Hoertnagel [8] ; Janelle,Howell [22] ; Ivan,Ivanovski [23] ; Angela,Kaindl [24] ; Tom,Kamphans [25] ; Susanne,Kamphausen [26] ; Catherine,Karimov [27] ; Hadil,Kathom [28] ; Anna,Keryan [27] ; Alexej,Knaus [9] ; Sebastian,Köhler [29] ; Uwe,Kornak [12] ; Alexander,Lavrov [30] ; Maximilian,Leitheiser [12] ; Gholson J,Lyon [31] ; Elisabeth,Mangold [32] ; Purificación Marín,Reina [33] ; Antonio Martinez,Carrascal [34] ; Diana,Mitter [35] ; Laura Morlan,Herrador [36] ; Guy,Nadav [4] ; Markus,Nöthen [13] ; Alfredo,Orrico [37] ; Claus-Eric,Ott [12] ; Kristen,Park [38] ; Borut,Peterlin [39] ; Laura,Pölsler [18] ; Annick,Raas-Rothschild [40] ; Linda,Randolph [27] ; Nicole,Revencu [41] ; Christina Ringmann,Fagerberg [42] ; Peter Nick,Robinson [43] ; Stanislav,Rosnev [12] ; Sabine,Rudnik [18] ; Gorazd,Rudolf [39] ; Ulrich,Schatz [18] ; Anna,Schossig [18] ; Max,Schubach [44] ; Or,Shanoon [4] ; Eamonn,Sheridan [45] ; Pola,Smirin-Yosef [46] ; Malte,Spielmann [12] ; Eun-Kyung,Suk [47] ; Yves,Sznajer [48] ; Christian T,Thiel [49] ; Gundula,Thiel [47] ; Alain,Verloes [50] ; Irena,Vrecar [39] ; Dagmar,Wahl [51] ; Ingrid,Weber [18] ; Korina,Winter [12] ; Marzena,Wiśniewska [52] ; Bernd,Wollnik [53] ; Ming W,Yeung [9] ; Max,Zhao [12] ; Na,Zhu [12] ; Johannes,Zschocke [18] ; Stefan,Mundlos [12] ; Denise,Horn [12] ; Peter M,Krawitz [54]
作者单位: Institute of Genomic Statistics and Bioinformatics, University of Bonn, Bonn, Germany.;Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Institute of Medical Genetics and Human Genetics, Berlin, Germany.;Berlin Institute of Health (BIH), Berlin, Germany. [1] Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Institute of Medical Genetics and Human Genetics, Berlin, Germany.;Berlin Institute of Health (BIH), Berlin, Germany. [2] Centro de Cáncer de Mama, Tecnológico de Monterrey, Monterrey, Mexico. [3] FDNA Inc., Boston, MA, USA. [4] Rigshospitalet, Department of Neurology, Copenhagen, Denmark. [5] Unidad de Investigación Médica en Medicina Reproductiva, Mexico City, Mexico. [6] Centre for Medical Ethics, Faculty of Medicine and the Norwegian Research Center for Computers and Law, Faculty of Law, University of Oslo, Oslo, Norway. [7] CeGaT GmbH, Tübingen, Germany. [8] Institute of Genomic Statistics and Bioinformatics, University of Bonn, Bonn, Germany. [9] Faculty of Medicine, Department of Medical Genetics, University of Oslo, Blindern, Oslo, Norway. [10] Developmental Neurology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy. [11] Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Institute of Medical Genetics and Human Genetics, Berlin, Germany. [12] Department of Human Genetics, University Hospital of Bonn, Bonn, Germany. [13] Medical Faculty, Heinrich Heine University Düsseldorf, Düsseldorf, Germany. [14] Department of Human Genetics, KU Leuven, Leuven, Belgium. [15] Department of Human Genetics, University of Hamburg, Hamburg, Germany. [16] Manchester Centre for Genomic Medicine, St Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust Manchester Academic Health Sciences Centre, Manchester, United Kingdom.;School of Biological Sciences, Division of Evolution and Genomic Sciences, University of Manchester, Manchester, United Kingdom. [17] Division of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria. [18] Center for Genomics and Transcriptomics, Eberhard Karls University of Tübingen, Tübingen, Germany. [19] A. I. duPont Hospital for Children, Wilmington, DE, USA. [20] National Research and Applied Medicine Centre 'Mother and Child'', Minsk, Belarus. [21] Lineagen, Salt Lake City, Utah, USA. [22] Clinical Genetics Unit, AUSL-IRCCS Reggio Emilia, Reggio Emilia, Italy. [23] Center for Chronically Sick Children (Sozialpädiatrisches Zentrum, SPZ), Charité - Universitätsmedizin Berlin, Berlin, Germany. [24] GeneTalk, Bonn, Germany. [25] University Hospital Magdeburg, Magdeburg, Germany. [26] Children's Hospital of Los Angeles, Los Angeles, CA, USA. [27] Department of Pediatrics, Medical University of Sofia, Sofia, Bulgaria. [28] Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, NeuroCure Clinical Research Center, Berlin, Germany. [29] Research Institute of Medical Genetics of Russian Academy of Medical Sciences, Moscow, Russian Federation. [30] Stanley Institute for Cognitive Genomics, Cold Spring Harbor Laboratory, Woodbury, New York, USA. [31] Institute of Human Genetics, University of Bonn, Bonn, Germany. [32] Hospital General Universitario De Valencia, Valencia, Spain. [33] Hospital General De Requena, Servicio Pediatría, Spain. [34] University Hospital Leipzig, Leipzig, Germany. [35] Hospital Universitario Miguel Servet, Zaragoza, Spain. [36] Azienda Ospedaliera Universitaria Senese, Siena, Italy. [37] Department of Pediatrics and Neurology, University of Colorado School of Medicine, Colorado, Aurora, USA. [38] Clinical Institute of Medical Genetics, University Medical Centre Ljubljana, Ljubljana, Slovenia. [39] The Danek Gertner Institute of Human Genetics, Sheba Medical Center, Tel-Hashomer, Israel. [40] Center for Human Genetics, University Hospital, Université Catholique de Louvain, Brussels, Belgium. [41] Odense University Hospital, Odense, Denmark. [42] The Jackson Laboratory for Genomic Medicine, Farmington, CT, USA. [43] Berlin Institute of Health (BIH), Berlin, Germany. [44] School of Medicine, University of Leeds, Leeds, United Kingdom. [45] Genomic Bioinformatics Laboratory, Department of Molecular Biology, Ariel University, Ariel, Israel. [46] Center for Prenatal Diagnosis and Human Genetics, Berlin, Germany. [47] Cliniques universitaires Saint Luc UCL, Bruxelles, Belgium. [48] Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg FAU, Erlangen, Erlangen, Germany. [49] Hopital Robert Debré, Paris, France. [50] Center for Human Genetics and Laboratory Diagnostics Dr. Klein, Dr. Rost and Colleagues, Martinsried, Germany. [51] Poznañ University of Medical Sciences, Poznañ, Poland. [52] University Medical Center Göttingen, Göttingen, Germany. [53] Institute of Genomic Statistics and Bioinformatics, University of Bonn, Bonn, Germany. pkrawitz@uni-bonn.de. [54]
DOI 10.1038/s41436-019-0566-2
PMID 31164752
发布时间 2022-05-22
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Genetics in medicine : official journal of the American College of Medical Genetics

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