换一批
换一批Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses.
作者：
German,Demidov [1]
;
Burcu,Yaldiz [2]
;
José,Garcia-Pelaez [3]
;
Elke,de Boer [4]
;
Nika,Schuermans [5]
;
Liedewei,Van de Vondel [6]
;
Ida,Paramonov [7]
;
Lennart F,Johansson [8]
;
Francesco,Musacchia [9]
;
Elisa,Benetti [10]
;
Gemma,Bullich [7]
;
Karolis,Sablauskas [11]
;
Sergi,Beltran [12]
;
Christian,Gilissen [13]
;
Alexander,Hoischen [14]
;
Stephan,Ossowski [15]
;
Richarda,de Voer [16]
;
Katja,Lohmann [17]
;
Carla,Oliveira [3]
;
Ana,Topf [18]
;
Lisenka E L M,Vissers [19]
;
Solve-RD Consortium [20]
;
Steven,Laurie
作者单位：
Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany. German.Demidov@med.uni-tuebingen.de.;Institute for Bioinformatics and Medical Informatics (IBMI), University of Tübingen, Tübingen, Germany. German.Demidov@med.uni-tuebingen.de.
[1]
Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.;Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.
[2]
i3S - Instituto de Investigação e Inovação em Saúde, Rua Alfredo Allen, 208, 4200-135, Porto, Portugal.;IPATIMUP - Institute of Molecular Pathology and Immunology, University of Porto, Porto, Portugal.;Faculty of Medicine, University of Porto, Porto, Portugal.
[3]
Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.;Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, The Netherlands.;Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.
[4]
Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.
[5]
Translational Neurosciences, Faculty of Medicine and Health Sciences, University of Antwerp, Antwerp, Belgium.;Laboratory of Neuromuscular Pathology, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.
[6]
Centro Nacional de Análisis Genómico (CNAG), C/Baldiri Reixac 4, 08028, Barcelona, Spain.;Universitat de Barcelona (UB), Barcelona, Spain.
[7]
University of Groningen, University Medical Center Groningen, Department of Genetics, Groningen, The Netherlands.
[8]
Center for Human Technologies, Italian Institute of Technology (IIT), Genova, Italy.;Telethon Institute for Genetics and Medicine, 80078, Pozzuoli (Napoli), Italy.
[9]
Department of Medical Biotechnologies, Med Biotech Hub and Competence Center, University of Siena, 53100, Siena, Italy.
[10]
Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.;Institute of Data Science and Digital Technologies, Vilnius University, Vilnius, Lithuania.
[11]
Centro Nacional de Análisis Genómico (CNAG), C/Baldiri Reixac 4, 08028, Barcelona, Spain.;Universitat de Barcelona (UB), Barcelona, Spain.;Departament de Genètica, Microbiologia i Estadística, Facultat de Biologia, Universitat de Barcelona (UB), Barcelona, Spain.
[12]
Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
[13]
Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.;Radboud Institute for Molecular Life Sciences, Nijmegen, The Netherlands.;Department of Internal Medicine and Radboud Center for Infectious Diseases (RCI), Radboud University Medical Center, Nijmegen, The Netherlands.
[14]
Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.;Institute for Bioinformatics and Medical Informatics (IBMI), University of Tübingen, Tübingen, Germany.
[15]
Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.;Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, The Netherlands.
[16]
Institute of Neurogenetics, University of Lübeck, Ratzeburger Allee 160, 23562, Lübeck, Germany.
[17]
John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.
[18]
Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.;Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, The Netherlands.
[19]
Centro Nacional de Análisis Genómico (CNAG), C/Baldiri Reixac 4, 08028, Barcelona, Spain. steven.laurie@cnag.eu.;Universitat de Barcelona (UB), Barcelona, Spain. steven.laurie@cnag.eu.
[20]
DOI
10.1038/s41525-024-00436-6
PMID
39461972
发布时间
2024-10-29
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NPJ genomic medicine
NPJ genomic medicine
2024年9卷1期
49页
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