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            Institute for Bioinformatics and Medical Informatics (IBMI), University of Tübingen, Tübingen, Germany            
            Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands            
            Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, Netherlands            
            i3S - Instituto de Investigação e Inovação em Saúde, Rua Alfredo Allen, 208, Porto, 4200-135, Portugal            
            IPATIMUP - Institute of Molecular Pathology and Immunology, University of Porto, Porto, Portugal            
            Faculty of Medicine, University of Porto, Porto, Portugal            
            Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, Netherlands            
            Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, Netherlands            
            Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium            
            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            
            Centro Nacional de Análisis Genómico (CNAG), C/Baldiri Reixac 4, Barcelona, 08028, Spain            
            Universitat de Barcelona (UB), Barcelona, Spain            
            University of Groningen, University Medical Center Groningen, Department of Genetics, Groningen, Netherlands            
            Center for Human Technologies, Italian Institute of Technology (IIT), Genova, Italy            
            Telethon Institute for Genetics and Medicine, Pozzuoli (Napoli), 80078, Italy            
            Department of Medical Biotechnologies, Med Biotech Hub and Competence Center, University of Siena, Siena, 53100, Italy            
            Institute of Data Science and Digital Technologies, Vilnius University, Vilnius, Lithuania            
            Departament de Genètica, Microbiologia i Estadística, Facultat de Biologia, Universitat de Barcelona (UB), Barcelona, Spain            
            Radboud Institute for Molecular Life Sciences, Nijmegen, Netherlands            
            Department of Internal Medicine and Radboud Center for Infectious Diseases (RCI), Radboud University Medical Center, Nijmegen, Netherlands            
            Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, Netherlands            
            Institute of Neurogenetics, University of Lübeck, Ratzeburger Allee 160, Lübeck, 23562, Germany            
            John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom            
            Centre for Rare Diseases, University of Tübingen, Tübingen, Germany            
            Department of Genetics/Epigenetics, Faculty NT, Saarland University, Saarbrücken, Germany            
            Department of Neurodegeneration, Hertie Institute for Clinical Brain Research (HIH), University of Tübingen, Tübingen, Germany            
            Division of Neurodegenerative Diseases and Movement Disorders, Department of Neurology, University of Heidelberg, Heidelberg, Germany            
            German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany            
            Division Translational Genomics of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, Tübingen, Germany            
            Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research (HIH), University of Tübingen, Tübingen, Germany            
            Center for Molecular and Biomolecular Informatics, Radboud University Medical Center, Nijmegen, Netherlands            
            Department of Neurology, Radboud University Medical Center, Nijmegen, Netherlands            
            Department of Genetics and Genome Biology, University of Leicester, Leicester, United Kingdom            
            Primary Immunodeficiency Group, Translational and Clinical Research Institute, Newcastle University and Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom            
            Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, M13 9WL, United Kingdom            
            Manchester Centre for Genomic Medicine, St Mary’s Hospital, Manchester University Hospitals NHS Foundation Trust, Health Innovation Manchester, Manchester, M13 9WL, United Kingdom            
            Dijon University Hospital, Genetics Department, Dijon, France            
            Dijon University Hospital, Centre of Reference for Rare Diseases: Development disorders and malformation syndromes, Dijon, France            
            Inserm - University of Burgundy-Franche Comté, Dijon, UMR1231 GAD, France            
            Dijon University Hospital, FHU-TRANSLAD, Dijon, France            
            Dijon University Hospital, GIMI institute, Dijon, France            
            Universitat Pompeu Fabra (UPF), Barcelona, Spain            
            EURORDIS-Rare Diseases Europe, Sant Antoni Maria Claret, Barcelona, 167 - 08025, Spain            
            EURORDIS-Rare Diseases Europe, Plateforme Maladies Rares, Paris, 75014, France            
            INSERM, US14 - Orphanet, Plateforme Maladies Rares, Paris, 75014, France            
            Institut du Cerveau, INSERM U1127, CNRS UMR7225, Sorbonne university, Paris, France            
            INCIA, EPHE, CNRS UMR5287, Bordeaux university, Bordeaux, France            
            Hôpital de la Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France            
            Sorbonne Université, Inserm, Institut de Myologie, Centre de Recherche en Myologie, Paris, F-75013, France            
            AP-HP, Centre de Référence de Pathologie Neuromusculaire Nord, Est, Ile-de-France, Institut de Myologie, G.H. Pitié-Salpêtrière, Paris, F-75013, France            
            Institut de Myologie, Equipe Bases de données, G.H. Pitié-Salpêtrière, Paris, F-75013, France            
            AP-HP, Unité Fonctionnelle de Cardiogénétique et Myogénétique Moléculaire et Cellulaire, G.H. Pitié-Salpêtrière, Paris, F-75013, France            
            Department of Biology and Medical Genetics, Charles University Prague-2nd Faculty of Medicine and University Hospital Motol, Prague, Czech Republic            
            Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic            
            Department of Ophthalmology, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic            
            Department of Paediatrics and Inherited Metabolic Disorders, 1st Faculty of Medicine, Centre for Paediatric Rheumatology and Autoinflammatory Diseases, Charles University and General University Hospital in Prague, Prague, Czech Republic            
            Department of Cardiology-Institute of Clinical and Experimental Medicine and Department of Biology and Medical Genetics-2nd Faculty of Medicine Charles University, Prague, Czech Republic            
            European Bioinformatics Institute, European Molecular Biology Laboratory, Wellcome Genome Campus, Hinxton, Cambridge, United Kingdom            
            CSC–IT Center for Science, Espoo, 02101, Finland            
            Jackson Laboratory for Genomic Medicine, Farmington, CT 06032, United States            
            Berlin Institute of Health at Charité–Universitätsmedizin Berlin, Charitéplatz 1, Berlin, 10117, Germany            
            Florence Nightingale Faculty of Nursing, Midwifery &amp; amp; Palliative Care, King’s College, London, United Kingdom            
            Society and Ethics Research, Connecting Science, Wellcome Genome Campus, Hinxton, United Kingdom            
            MRC Centre for Neuromuscular Diseases and National Hospital for Neurology and Neurosurgery, UCL Queen Square Institute of Neurology, London, United Kingdom            
            Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom            
            Department of Human Genetics, Medical Research Institute, Alexandria University, Alexandria, Egypt            
            Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, WC1N 3BG, United Kingdom            
            Department of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London, United Kingdom            
            Dementia Research Centre, Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, London, United Kingdom            
            Dubowitz Neuromuscular Centre, UCL Great Ormond Street Hospital, London, United Kingdom            
            NIHR Great Ormond Street Hospital Biomedical Research Centre, London, United Kingdom            
            Peripheral Neuropathy Research Group, University of Antwerp, Antwerp, Belgium            
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            VIB-CMN, Applied and Translational Neurogenomics Group, Antwerpen, Belgium            
            Dipartimento di Medicina di Precisione, Università degli Studi della Campania “Luigi Vanvitelli”, Napoli, Italy            
            Unit of Medical Genetics, Department of Medical Sciences, University of Ferrara, Ferrara, Italy            
            Institute of Human Genetics, Medical Faculty, University of Bonn, Bonn, Germany            
            Center for Hereditary Tumor Syndromes, University Hospital Bonn, Bonn, Germany            
            CHUSJ, Centro Hospitalar e Universitário de São João, Porto, Portugal            
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            Faculty of Sciences, University of Porto, Porto, Portugal            
            Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, Netherlands            
            Department of Human Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, Netherlands            
            Ada Health GmbH, Karl-Liebknecht-Str. 1, Berlin, 10178, Germany            
            College of Health, Well-being and Life-Sciences, Sheffield Hallam University, Sheffield, United Kingdom            
            Advanced Wellbeing Research Centre, Sheffield Hallam University, Olympic Legacy Park, 2 Old Hall Road, Sheffield, S9 3TU, United Kingdom            
            Dept of Genetics, Assistance Publique-Hôpitaux de Paris-Université de Paris, Robert DEBRE University Hospital, 48 bd SERURIER, Paris, France            
            INSERM UMR 1141 “NeuroDiderot”, Hôpital Robert DEBRE, Paris, France            
            Department of Genetics, Assistance Publique-Hôpitaux de Paris - Sorbonne Université, Pitié-Salpêtrière University Hospital, 83 Boulevard de l’Hôpital, Paris, France            
            Reference Center of Rare Diseases “Intellectuel Disability of Rare Causes”, Paris, France            
            Institut du Cerveau (ICM), UMR S 1127, Inserm U1127, CNRS UMR 7225, Sorbonne Université, Paris, 75013, France            
            Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany            
            Genetic Medicine Division, University Hospitals and University of Geneva, Geneva, Switzerland            
            Genetics &amp; amp; Development, Faculty of Medicine, University of Geneva, Geneva, Switzerland            
            Children’s Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada            
            Paediatric Neurology, University Hospital Galway, Galway, Ireland            
            Institute of Rare Diseases Research, Spanish Undiagnosed Rare Diseases Cases Program (SpainUDP) &amp; amp; Undiagnosed Diseases Network International (UDNI), Instituto de Salud Carlos III, Madrid, Spain            
            Neuroscience Department, Children’s Hospital A. Meyer-University of Florence, Florence, 50139, Italy            
            Institute of Genomic Medicine and Rare Diseases, Semmelweis University, Budapest, Hungary            
            Koç Universıty, School of Medicine, Translational Medicine Research Center, KUTTAM-NDAL, Istanbul, Turkey            
            Infection in Immunocompromised Pediatric Patients Research Group, Vall d’Hebron Research Institute (VHIR), Barcelona, Spain            
            Pediatric Infectious Diseases and Immunodeficiencies Unit, Vall d’Hebron University Hospital (HUVH), Barcelona, Spain            
            Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, United Kingdom            
            Centre de Génétique Humaine, Institut de Pathologie et de Génétique, Gosselies, Belgium            
            School of Pharmacy and Bimolecular Sciences, RCSI, Dublin, Ireland            
            Department of Clinical Genetics, Leiden University Medical Center, Leiden, Netherlands            
            Neurology/Neurogenetics Laboratory University of Crete, Heraklion, Crete, Greece            
            Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna, Austria            
            St. Anna Children’s Cancer Research Institute (CCRI), Vienna, Austria            
            CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria            
            Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria            
            St. Anna Children’s Hospital, Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria            
            SFI FutureNeuro Research Centre, Dublin, Ireland            
            Department of Paediatrics, RCSI, Dublin, Ireland            
            Department of Paediatrics Neurology, CHI, Dublin, Ireland            
            Institute for Immunodeficiency, Center for Chronic Immunodeficiency (CCI), Medical Center, Faculty of Medicine, Albert-Ludwigs-University of Freiburg, Freiburg, Germany            
            RESIST – Cluster of Excellence 2155 to Hanover Medical School, Satellite Center Freiburg, Freiburg, Germany            
            Bellvitge Biomedical Research Institute (IDIBELL), Barcelona, Spain            
            Catalan Institute of Oncology (IROCA), Barcelona, Spain            
            Pediatric Neurology Department, Saint-Luc University Hospital, Université Catholique de Louvain, Brussels, Belgium            
            SFI Centre for Research Training in Genomics Data Science, Dublin, Ireland            
            Pediatric Neurology Research Group, Vall d’Hebron Research Institute, Universitat Autònoma de Barcelona, Barcelona, Spain            
            Department of Clinical Neurosciences, University of Cambridge, Cambridge, United Kingdom            
            Medical Research Council Mitochondrial Biology Unit, University of Cambridge, Cambridge, United Kingdom            
            Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy            
            Department of Neurology, University Hospitals Leuven, Leuven, Belgium            
            Laboratory for Muscle Diseases and Neuropathies, Department of Neurosciences, and Leuven Brain Institute (LBI), KU Leuven-University of Leuven, Leuven, Belgium            
            Diagnostic Immunology Research Group, Vall d’Hebron Research Institute (VHIR), Barcelona, Spain            
            Immunology Division, Genetics Department, Vall d’Hebron University Hospital (HUVH), Barcelona, Spain            
            Immunology Unit, Department of Cell Biology, Physiology and Immunology. Autonomous University of Barcelona (UAB), Bellaterra, Spain            
            Department of Neurology, Klinikum rechts der Isar, Technical University Munich, Munich, Germany            
            Département de néphrologie, Cliniques Universitaires Saint-Luc, Bruxelles, Belgium            
            Department of Neurology, Beaumont Hospital, Dublin, Ireland            
            Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany            
            Institut du Cerveau et de la Moelle épinière (ICM), Sorbonne Université, UMR S 1127, Inserm U1127, CNRS UMR 7225, Paris, F-75013, France            
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            Program for Undiagnosed Rare Diseases (UD-PrOZA), Ghent University Hospital, Ghent, Belgium            
            Department of Biomolecular Medicine, Faculty of Medicine and Health Sciences, Ghent University, Ghent, Belgium            
            Neuromuscular Disorders Unit, Department of Pediatric Neurology. Hospital Sant Joan de Déu, Barcelona, Spain            
            Laboratory of Neurogenetics and Molecular Medicine - IPER, Institut de Recerca Sant Joan de Déu, Barcelona, Spain            
            Saint Luke Hospital, Division of Child Neurology, Thessaloniki, Greece            
            Medical Genetics, University of Siena, Siena, Italy            
            School of Computation, Information and Technology, Technical University of Munich, Garching, Germany            
            Institute of Human Genetics, School of Medicine, Technical University of Munich, Munich, Germany            
            Computational Health Center, Helmholtz Center Munich, Neuherberg, Germany            
            Department of Clinical Genetics, CHI, Dublin, Ireland            
            Clinic of Rheumatology and Clinical Immunology, Center for Chronic Immunodeficiency (CCI), Medical Center, Faculty of Medicine, Albert-Ludwigs-University of Freiburg, Freiburg, Germany            
            DZIF–German Center for Infection Research, Satellite Center Freiburg, Freiburg, Germany            
            CIBSS–Centre for Integrative Biological Signalling Studies, Albert-Ludwigs-University of Freiburg, Freiburg, Germany            
            Neurofarba Department, University of Florence, Florence, Italy            
            Folkhälsan Research Centre and Medicum, University of Helsinki, Helsinki, Finland            
            Department of Neurology, Ghent University Hospital, Ghent, Belgium            
            Institute of Systems Motor Science, University of Lübeck, Ratzeburger Allee 160, Lübeck, 23562, Germany            
            Department of Neurology, University Hospital Schleswig Holstein, Ratzeburger Allee 160, Lübeck, 23538, Germany            
            Medizinische Klinik und Poliklinik IV–Campus Innenstadt, Klinikum der Universität München, Munich, Germany            
            Department of Genetics, Division Laboratories, Pharmacy and Biomedical Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, Netherlands            
            Unit of Medical Genetics, IRCCS Istituto Giannina Gaslini, Genoa, Italy            
            Clinical Bioinformatics, IRCCS Istituto Giannina Gaslini, Genoa, Italy            
            Neurochemistry and Biomarker Unit, 1st Department of Neurology, School of Medicine, National and Kapodistrian University of Athens, Eginition Hospital, Athens, Greece            
            Institute of Human Genetics, University Hospital of Cologne, University Cologne, Kerpener Str. 34, Cologne, 50931, Germany            
            Center for Molecular Medicine Cologne, University of Cologne, Cologne, 50931, Germany            
            Institute for Genetics, University of Cologne, Cologne, 50674, Germany            
            Center for Rare Diseases Cologne, University Hospital Cologne, Cologne, 50937, Germany            
            Pediatric Neurology Unit, University Hospitals, Geneva, Switzerland            
            Univ. Bordeaux, MRGM INSERM U1211, CHU de Bordeaux, Service de Génétique Médicale, Bordeaux, F-33000, France            
            MGZ - Medical Genetics Center, Munich, Germany            
            Department of Rheumatology &amp; amp; Clinical Immunology, University Medical Center Utrecht, Utrecht University, Utrecht, Netherlands            
            Institute of Pathology and Genetics, Charleroi, Belgium            
            Department of Neuropediatrics and Muscle Disorders, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany            
            Centro Nacional de Análisis Genómico (CNAG-CRG), Center for Genomic Regulation, Barcelona Institute of Science and Technology (BIST), Barcelona, Spain            
            Institut de Neurociències, Universitat Autònoma de Barcelona, Barcelona, Spain            
            Clinical Institute of Genomic Medicine, University Medical Centre Ljubljana, Ljubljana, Slovenia            
            Luxembourg Centre for Systems Biomedicine, University of Luxembourg, Esch-sur-Alzette, Luxembourg            
            Département de Médecine, Université de Namur (Unamur), Namur, Belgium            
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            Applied Research in Neuromuscular Diseases, Institut de Recerca Sant Joan de Déu, Barcelona, Spain            
            Center for Biomedical Research Network on Rare Diseases (CIBERER), ISCIII, Barcelona, Spain            
            East Anglian Medical Genetics Service, Cambridge University Hospitals NHS Foundation Trust, Cambridge, United Kingdom            
            Department of Paediatrics, University of Cambridge, Cambridge, United Kingdom            
            Genetica Medica, Azienda Ospedaliero-Universitaria Senese, Senese, Italy            
            Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy            
            Department of Pediatric Neurology, Developmental Neurology and Social Pediatrics, Children’s Hospital University of Essen, Essen, Germany            
            Institute for Clinical Genetics, Faculty of Medicine Carl Gustav Carus, Technical University Dresden, Dresden, Germany            
            Center for Personalized Oncology, University Hospital Carl Gustav Carus, Technical University Dresden, Dresden, Germany            
            Pediatric Neurology and Muscular Disease Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy            
            1sts Department of Neurology, Aristotle University of Thessaloniki, University General Hospital of Thessaloniki, AHEPA, Thessaloniki, Greece            
            IRCCS Istituto Giannina Gaslini, Genoa, Italy            
            Human Genetics Department, Saint-Luc University Hospital, Université Catholique de Louvain, Brussels, Belgium            
            Laboratoire de Génétique Moléculaire, Service de Génétique Médicale, CHU Bordeaux – Hôpital Pellegrin, Place Amélie Raba Léon, Bordeaux, Cedex, 33076, France            
            Tampere Neuromuscular Center, Tampere, Finland            
            Vasa Central Hospital, Vaasa, Finland            
            Department of Pediatric Immunology and Infectious Diseases, University Medical Center Utrecht, Utrecht University, Utrecht, Netherlands            
            Export Date: 13 November 2024            
            Correspondence Address: Demidov, G.; Institute of Medical Genetics and Applied Genomics, Germany; email: German.Demidov@med.uni-tuebingen.de            
            Correspondence Address: Laurie, S.; Centro Nacional de Análisis Genómico (CNAG), Spain; email: steven.laurie@cnag.eu</comment>
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      <abstractText>We report the results of a comprehensive copy number variant (CNV) reanalysis of 9171 exome sequencing datasets from 5757 families affected by a rare disease (RD). The data reanalysed was extremely heterogeneous, having been generated using 28 different enrichment kits by 42 different research groups across Europe partnering in the Solve-RD project. Each research group had previously undertaken their own analysis of the data but failed to identify disease-causing variants. We applied three CNV calling algorithms to maximise sensitivity, and rare CNVs overlapping genes of interest, provided by four partner European Reference Networks, were taken forward for interpretation by clinical experts. This reanalysis has resulted in a molecular diagnosis being provided to 51 families in this sample, with ClinCNV performing the best of the three algorithms. We also identified partially explanatory pathogenic CNVs in a further 34 individuals. This work illustrates the value of reanalysing ES cold cases for CNVs.</abstractText>
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      <label>Demidov German et al. Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses.. (2024) NPJ GENOMIC MEDICINE 2056-7944 2056-7944 9 1</label><template>&lt;div class=&quot;JournalArticle Publication short-list&quot;&gt; &lt;div class=&quot;authors&quot;&gt; &lt;span class=&quot;author-name&quot; &gt; Demidov, German ✉ &lt;/span&gt; &lt;span class=&quot;author-type&quot;&gt; &lt;/span&gt; ; &lt;span class=&quot;author-name&quot; &gt; Yaldiz, Burcu &lt;/span&gt; &lt;span class=&quot;author-type&quot;&gt; &lt;/span&gt; ; &lt;span class=&quot;author-name&quot; &gt; Garcia-Pelaez, José &lt;/span&gt; &lt;span class=&quot;author-type&quot;&gt; &lt;/span&gt; ; &lt;span class=&quot;author-name&quot; &gt; de Boer, Elke &lt;/span&gt; &lt;span class=&quot;author-type&quot;&gt; &lt;/span&gt; ; &lt;span class=&quot;author-name&quot; &gt; Schuermans, Nika &lt;/span&gt; &lt;span class=&quot;author-type&quot;&gt; &lt;/span&gt; ; &lt;span class=&quot;author-name&quot; &gt; Van de Vondel, Liedewei &lt;/span&gt; &lt;span class=&quot;author-type&quot;&gt; &lt;/span&gt; ; &lt;span class=&quot;author-name&quot; &gt; Paramonov, Ida &lt;/span&gt; &lt;span class=&quot;author-type&quot;&gt; &lt;/span&gt; ; &lt;span class=&quot;author-name&quot; &gt; Johansson, Lennart F &lt;/span&gt; &lt;span class=&quot;author-type&quot;&gt; &lt;/span&gt; ; &lt;span class=&quot;author-name&quot; &gt; Musacchia, Francesco &lt;/span&gt; &lt;span class=&quot;author-type&quot;&gt; &lt;/span&gt; ; &lt;span class=&quot;author-name&quot; &gt; Benetti, Elisa &lt;/span&gt; &lt;span class=&quot;author-type&quot;&gt; &lt;/span&gt; et al. &lt;/div &gt;&lt;div class=&quot;title&quot;&gt;&lt;a href=&quot;/gui2/?mode=browse&amp;params=publication;35503119&quot; mtid=&quot;35503119&quot; target=&quot;_blank&quot;&gt;Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses.&lt;/a&gt;&lt;/div&gt; &lt;div class=&quot;pub-info&quot;&gt; &lt;span class=&quot;journal-title&quot;&gt;NPJ GENOMIC MEDICINE&lt;/span&gt; &lt;span class=&quot;journal-volume&quot;&gt;9&lt;/span&gt; : &lt;span class=&quot;journal-issue&quot;&gt;1&lt;/span&gt; &lt;span class=&quot;page&quot;&gt; Paper: 49 , 24 p. &lt;/span&gt; &lt;span class=&quot;year&quot;&gt;(2024)&lt;/span&gt; &lt;/div&gt; &lt;div class=&quot;pub-end&quot;&gt;&lt;div class=&quot;identifier-list&quot;&gt; &lt;span class=&quot;identifiers&quot;&gt; &lt;span class=&quot;id identifier oa_none&quot; title=&quot;none&quot;&gt; &lt;a style=&quot;color:blue&quot; title=&quot;10.1038/s41525-024-00436-6&quot; target=&quot;_blank&quot; href=&quot;https://doi.org/10.1038/s41525-024-00436-6&quot;&gt; DOI &lt;/a&gt; &lt;/span&gt; &lt;span class=&quot;id identifier oa_none&quot; title=&quot;none&quot;&gt; &lt;a style=&quot;color:blue&quot; title=&quot;85207830154&quot; target=&quot;_blank&quot; href=&quot;http://www.scopus.com/record/display.url?origin=inward&amp;eid=2-s2.0-85207830154&quot;&gt; Scopus &lt;/a&gt; &lt;/span&gt; &lt;span class=&quot;id identifier oa_none&quot; title=&quot;none&quot;&gt; &lt;a style=&quot;color:blue&quot; title=&quot;39461972&quot; target=&quot;_blank&quot; href=&quot;http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;list_uids=39461972&amp;dopt=Abstract&quot;&gt; PubMed &lt;/a&gt; &lt;/span&gt; &lt;/span&gt; &lt;/div&gt; &lt;div class=&quot;short-pub-prop-list&quot;&gt; &lt;span class=&quot;short-pub-mtid&quot;&gt; Közlemény:35503119 &lt;/span&gt; &lt;span class=&quot;status-holder&quot;&gt;&lt;span class=&quot;status-data status-VALIDATED&quot;&gt; Egyeztetett &lt;/span&gt;&lt;/span&gt; &lt;span class=&quot;pub-core&quot;&gt;Forrás Idéző &lt;/span&gt; &lt;span class=&quot;pub-type&quot;&gt;Folyóiratcikk (Sokszerzős vagy csoportos szerzőségű szakcikk ) &lt;/span&gt; &lt;!-- &amp;&amp; !record.category.scientific --&gt; &lt;span class=&quot;pub-category&quot;&gt;Tudományos&lt;/span&gt; &lt;div class=&quot;publication-citation&quot; style=&quot;margin-left: 0.5cm;&quot;&gt; &lt;span title=&quot;Nyilvános idézőközlemények összesen, említések nélkül&quot; class=&quot;citingPub-count&quot;&gt;Nyilvános idéző összesen: 2&lt;/span&gt; | Független: 0 | Függő: 2 | Nem jelölt: 0 | WoS jelölt: 2 | Scopus jelölt:&amp;nbsp;2 | WoS/Scopus jelölt:&amp;nbsp;2 | DOI jelölt:&amp;nbsp;2 &lt;/div&gt; &lt;/div&gt; &lt;/div&gt; &lt;/div&gt;</template><template2>&lt;div class=&quot;JournalArticle Publication long-list&quot;&gt;
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		&lt;div class=&quot;autype autype0&quot;&gt;				&lt;span class=&quot;author-name&quot; &gt;Demidov German ✉
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;&amp;nbsp;&amp;nbsp;&amp;nbsp;
							&lt;span class=&quot;author-name&quot; &gt;Yaldiz Burcu
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;&amp;nbsp;&amp;nbsp;&amp;nbsp;
							&lt;span class=&quot;author-name&quot; &gt;Garcia-Pelaez José
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;&amp;nbsp;&amp;nbsp;&amp;nbsp;
							&lt;span class=&quot;author-name&quot; &gt;de Boer Elke
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;&amp;nbsp;&amp;nbsp;&amp;nbsp;
							&lt;span class=&quot;author-name&quot; &gt;Schuermans Nika
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;&amp;nbsp;&amp;nbsp;&amp;nbsp;
							&lt;span class=&quot;author-name&quot; &gt;Van de Vondel Liedewei
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							&lt;span class=&quot;author-name&quot; &gt;Paramonov Ida
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;&amp;nbsp;&amp;nbsp;&amp;nbsp;
							&lt;span class=&quot;author-name&quot; &gt;Johansson Lennart F
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;&amp;nbsp;&amp;nbsp;&amp;nbsp;
							&lt;span class=&quot;author-name&quot; &gt;Musacchia Francesco
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;&amp;nbsp;&amp;nbsp;&amp;nbsp;
							&lt;span class=&quot;author-name&quot; &gt;Benetti Elisa
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							&lt;span class=&quot;author-name&quot; &gt;Bullich Gemma
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							&lt;span class=&quot;author-name&quot; &gt;Sablauskas Karolis
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;&amp;nbsp;&amp;nbsp;&amp;nbsp;
							&lt;span class=&quot;author-name&quot; &gt;Beltran Sergi
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							&lt;span class=&quot;author-name&quot; &gt;Gilissen Christian
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							&lt;span class=&quot;author-name&quot; &gt;Hoischen Alexander
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							&lt;span class=&quot;author-name&quot; &gt;Ossowski Stephan
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							&lt;span class=&quot;author-name&quot; &gt;de Voer Richarda
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							&lt;span class=&quot;author-name&quot; &gt;Lohmann Katja
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							&lt;span class=&quot;author-name&quot; &gt;Oliveira Carla
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							&lt;span class=&quot;author-name&quot; &gt;Topf Ana
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							&lt;span class=&quot;author-name&quot; &gt;Vissers Lisenka E L M
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							&lt;span class=&quot;author-name&quot; &gt;Laurie Steven ✉
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		&lt;div class=&quot;autype autype-11&quot;&gt;			Kollaborációs közreműködő:
				&lt;span class=&quot;author-name&quot; &gt;Riess Olaf
    &lt;/span&gt;
;&amp;nbsp;&amp;nbsp;&amp;nbsp;
																																																																																																																																																																																																																																																																																																																																																																																																																																																																																																																																																																																																																																																																																																																																																																																																																																																																																																	&lt;span class=&quot;author-name&quot; mtid=&quot;10002781&quot;&gt;&lt;a 
																				   href=&quot;/gui2/?type=authors&amp;mode=browse&amp;sel=10002781&quot; target=&quot;_blank&quot;&gt;Molnar Maria Judit
            (&lt;span class=&quot;authorship-author-name&quot;&gt;Molnár Mária Judit&lt;/span&gt;
            &lt;span class=&quot;authorAux-mtmt&quot;&gt; Neurológia&lt;/span&gt;)
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&lt;span class=&quot;author-affil&quot;&gt;&lt;span title=&quot;Semmelweis Egyetem&quot;&gt;SE&lt;/span&gt;/&lt;span title=&quot;Általános Orvostudományi Kar&quot;&gt;AOK&lt;/span&gt;/&lt;span title=&quot;Intézet&quot;&gt;I&lt;/span&gt;/Genomikai Medicina és Ritka Betegségek Intézete&lt;/span&gt;
;&amp;nbsp;&amp;nbsp;&amp;nbsp;
																																																																																																																																																															 et al. (340)
	    &lt;/div&gt;
		&lt;div class=&quot;autype autype-29&quot;&gt;			Kollaborációs szervezet:
				&lt;span class=&quot;author-affil&quot;&gt;Solve-RD Consortium&lt;/span&gt;

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&lt;div class=&quot;title&quot;&gt;&lt;a href=&quot;/gui2/?mode=browse&amp;params=publication;35503119&quot; target=&quot;_blank&quot;&gt;Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses.&lt;/a&gt;&lt;/div&gt;    &lt;div&gt;		&lt;span class=&quot;journal-title&quot;&gt;NPJ GENOMIC MEDICINE&lt;/span&gt;

        &lt;span class=&quot;journal-issn&quot;&gt;(&lt;a target=&quot;_blank&quot; href=&quot;https://portal.issn.org/resource/ISSN/2056-7944&quot;&gt;2056-7944&lt;/a&gt; &lt;a target=&quot;_blank&quot; href=&quot;https://portal.issn.org/resource/ISSN/2056-7944&quot;&gt;2056-7944&lt;/a&gt;)&lt;/span&gt;:
		&lt;span class=&quot;journal-volume&quot;&gt;9&lt;/span&gt; &lt;span class=&quot;journal-issue&quot;&gt;1&lt;/span&gt;
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		Paper 49.
	 24 p. 
&lt;/span&gt;		 &lt;span class=&quot;year&quot;&gt;(2024)&lt;/span&gt;  
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	&lt;span class=&quot;language&quot; xmlns=&quot;http://www.w3.org/1999/html&quot;&gt;Nyelv:
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									DOI
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				&lt;div class=&quot;journal-subject&quot;&gt;Folyóirat szakterülete: Scopus - Genetics&amp;nbsp;&amp;nbsp;&amp;nbsp;SJR indikátor:&amp;nbsp;D1&lt;/div&gt;
				&lt;div class=&quot;journal-subject&quot;&gt;Folyóirat szakterülete: Scopus - Molecular Biology&amp;nbsp;&amp;nbsp;&amp;nbsp;SJR indikátor:&amp;nbsp;Q1&lt;/div&gt;
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		| Független: 0
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Forrás	 Idéző
	
	
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&lt;div class=&quot;lastModified&quot;&gt;Utolsó módosítás: 2024.11.11. 11:51 Szalóky-Siki Ágnes (SE_KK_Admin5_SZSA, admin)
&lt;/div&gt;




	&lt;pre class=&quot;comment&quot; style=&quot;margin-top: 0; margin-bottom: 0;&quot;&gt;&lt;u&gt;Megjegyzés&lt;/u&gt;: Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany            
            Institute for Bioinformatics and Medical Informatics (IBMI), University of Tübingen, Tübingen, Germany            
            Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands            
            Department of Clinical Genetics, Maastric...&lt;/pre&gt;
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