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Systematic analysis and prediction of genes associated with monogenic disorders on human chromosome X.

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Title: Systematic analysis and prediction of genes associated with monogenic disorders on human chromosome X.
Authors: Leitão E; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany., Schröder C; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany., Parenti I; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany., Dalle C; Institut du Cerveau et de la Moelle épinière (ICM), Sorbonne Université, UMR S 1127, Inserm U1127, CNRS UMR 7225, F-75013, Paris, France., Rastetter A; Institut du Cerveau et de la Moelle épinière (ICM), Sorbonne Université, UMR S 1127, Inserm U1127, CNRS UMR 7225, F-75013, Paris, France., Kühnel T; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany., Kuechler A; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany., Kaya S; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany., Gérard B; Unité de Génétique Moléculaire, IGMA, Hôpitaux Universitaire de Strasbourg, Strasbourg, France., Schaefer E; Service de Génétique Médicale, IGMA, Hôpitaux Universitaires de Strasbourg, Strasbourg, France., Nava C; Institut du Cerveau et de la Moelle épinière (ICM), Sorbonne Université, UMR S 1127, Inserm U1127, CNRS UMR 7225, F-75013, Paris, France., Drouot N; Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch, 67400, France.; Centre National de la Recherche Scientifique, UMR7104, Illkirch, 67400, France.; Institut National de la Santé et de la Recherche Médicale, U964, Illkirch, 67400, France.; Université de Strasbourg, Illkirch, 67400, France., Engel C; Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch, 67400, France.; Centre National de la Recherche Scientifique, UMR7104, Illkirch, 67400, France.; Institut National de la Santé et de la Recherche Médicale, U964, Illkirch, 67400, France.; Université de Strasbourg, Illkirch, 67400, France., Piard J; Centre de Génétique Humaine, CHU Besançon, Besançon, France.; INSERM UMR1231, Equipe Génétique des Anomalies du Développement, Université de Bourgogne-Franche-Comté, Dijon, France., Duban-Bedu B; Centre de génétique chromosomique, Hôpital Saint-Vincent de Paul, Lille, France., Villard L; Aix-Marseille University, INSERM, MMG, UMR-S 1251, Faculté de médecine, Marseille, France.; Département de Génétique Médicale, APHM, Hôpital d'Enfants de La Timone, Marseille, France., Stegmann APA; Department of Human Genetics, Radboud University Medical Center, 6500 HB, Nijmegen, The Netherlands.; Department of Clinical Genetics, Maastricht University Medical Center+, Maastricht, The Netherlands., Vanhoutte EK; Department of Clinical Genetics, Maastricht University Medical Center+, Maastricht, The Netherlands., Verdonschot JAJ; Department of Clinical Genetics, Maastricht University Medical Center+, Maastricht, The Netherlands.; Cardiovascular Research Institute (CARIM), Departments of Cardiology, Maastricht University Medical Center, Maastricht, The Netherlands., Kaiser FJ; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany., Tran Mau-Them F; INSERM UMR1231, Equipe Génétique des Anomalies du Développement, Université de Bourgogne-Franche-Comté, Dijon, France.; Unité Fonctionnelle Innovation en Diagnostic génomique des maladies rares, CHU Dijon Bourgogne, Dijon, France., Scala M; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, 16132, Genoa, Italy.; Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto Giannina Gaslini, 16147, Genoa, Italy., Striano P; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, 16132, Genoa, Italy.; Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto Giannina Gaslini, 16147, Genoa, Italy., Frints SGM; Department of Clinical Genetics, Maastricht University Medical Center+, Maastricht, The Netherlands.; Department of Genetics and Cell Biology, Faculty of Health Medicine Life Sciences, Maastricht University Medical Center+, Maastricht University, Maastricht, The Netherlands., Argilli E; Department of Neurology, University of California, San Francisco, San Francisco, CA, USA.; Institute of Human Genetics and Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA, USA., Sherr EH; Department of Neurology, University of California, San Francisco, San Francisco, CA, USA.; Institute of Human Genetics and Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA, USA., Elder F; UF de Génomique du Développement, Département de Génétique, Groupe Hospitalier Pitié-Salpêtrière, APHP-Sorbonne Université, Paris, France., Buratti J; UF de Génomique du Développement, Département de Génétique, Groupe Hospitalier Pitié-Salpêtrière, APHP-Sorbonne Université, Paris, France., Keren B; UF de Génomique du Développement, Département de Génétique, Groupe Hospitalier Pitié-Salpêtrière, APHP-Sorbonne Université, Paris, France., Mignot C; Institut du Cerveau et de la Moelle épinière (ICM), Sorbonne Université, UMR S 1127, Inserm U1127, CNRS UMR 7225, F-75013, Paris, France.; APHP, Sorbonne Université, Département de Génétique, Centre de Référence Déficiences Intellectuelles de Causes Rares, Groupe Hospitalier Pitié-Salpêtrière and Hôpital Trousseau, Paris, France., Héron D; APHP, Sorbonne Université, Département de Génétique, Centre de Référence Déficiences Intellectuelles de Causes Rares, Groupe Hospitalier Pitié-Salpêtrière and Hôpital Trousseau, Paris, France., Mandel JL; Unité de Génétique Moléculaire, IGMA, Hôpitaux Universitaire de Strasbourg, Strasbourg, France.; Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch, 67400, France.; Centre National de la Recherche Scientifique, UMR7104, Illkirch, 67400, France.; Institut National de la Santé et de la Recherche Médicale, U964, Illkirch, 67400, France.; Université de Strasbourg, Illkirch, 67400, France., Gecz J; School of Medicine, The University of Adelaide, Adelaide, 5005, SA, Australia.; Robinson Research Institute, The University of Adelaide, Adelaide, SA, 5006, Australia.; South Australian Health and Medical Research Institute, The University of Adelaide, Adelaide, 5005, SA, Australia., Kalscheuer VM; Research Group Development and Disease, Max Planck Institute for Molecular Genetics, Berlin, Germany., Horsthemke B; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany., Piton A; Unité de Génétique Moléculaire, IGMA, Hôpitaux Universitaire de Strasbourg, Strasbourg, France.; Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch, 67400, France.; Centre National de la Recherche Scientifique, UMR7104, Illkirch, 67400, France.; Institut National de la Santé et de la Recherche Médicale, U964, Illkirch, 67400, France.; Université de Strasbourg, Illkirch, 67400, France., Depienne C; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany. christel.depienne@uni-due.de.
Source: Nature communications [Nat Commun] 2022 Nov 02; Vol. 13 (1), pp. 6570. Date of Electronic Publication: 2022 Nov 02.
Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Systematic analysis and prediction of genes associated with monogenic disorders on human chromosome X.
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              Y: 2022
          Identifiers:
            – Type: issn-electronic
              Value: 2041-1723
          Numbering:
            – Type: volume
              Value: 13
            – Type: issue
              Value: 1
          Titles:
            – TitleFull: Nature communications
              Type: main
ResultId 1