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3q29 duplications: A cohort of 46 patients and a literature review.

Autor: Massier, Marie, Doco‐Fenzy, Martine, Egloff, Matthieu, Le Guillou, Xavier, Le Guyader, Gwenaël, Redon, Sylvia, Benech, Caroline, Le Millier, Karine, Uguen, Kevin, Ropars, Juliette, Sacaze, Elise, Audebert‐Bellanger, Séverine, Apetrei, Andreea, Molin, Arnaud, Gruchy, Nicolas, Vincent‐Devulder, Aline, Spodenkiewicz, Marta, Jacquin, Clémence, Loron, Gauthier, Thibaud, Marie

Publikováno v: American Journal of Medical Genetics. Part A; Jul2024, Vol. 194 Issue 7, p1-13, 13p

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Expansion of the neurodevelopmental phenotype of individuals with EEF1A2variants and genotype-phenotype study

Autor: Paulet, Alix, Bennett-Ness, Cavan, Ageorges, Faustine, Trost, Detlef, Green, Andrew, Goudie, David, Jewell, Rosalyn, Kraatari-Tiri, Minna, PIARD, Juliette, Coubes, Christine, Lam, Wayne, Lynch, Sally Ann, Samuel, Groeschel, Ramond, Francis, Fluss, Joël, Fagerberg, Christina, Brasch Andersen, Charlotte, Varvagiannis, Konstantinos, Kleefstra, Tjitske, Gérard, Bénédicte, Fradin, Mélanie, Vitobello, Antonio, Tenconi, Romano, Denommé-Pichon, Anne-Sophie, Vincent-Devulder, Aline, Haack, Tobias, Marsh, Joseph A, Laulund, Lone Walentin, Grimmel, Mona, Riess, Angelika, de Boer, Elke, Padilla-Lopez, Sergio, Bakhtiari, Somayeh, Kruer, Michael C, Levy, Jonathan, Verloes, Alain, Abbott, Catherine M, Ruaud, Lyse

Publikováno v: European Journal of Human Genetics: EJHG; 20240101, Issue: Preprints p1-6, 6p

Correction: Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study.

Autor: Paulet A; Département de Génétique, Hôpital Robert-Debré, Paris, France. alix.paulet@hotmail.fr., Bennett-Ness C; Centre for Genomic and Experimental Medicine and Simons Initiative for the Developing Brain, Institute of Genetics and Cancer, Edinburgh, Scotland, UK., Ageorges F; Département de Génétique, Hôpital Robert-Debré, Paris, France., Trost D; Laboratoire Cerba, Saint-Ouen l'Aumône, France., Green A; UCD School of Medicine and Medical Science Consultant in Clinical Genetics, Dublin, Ireland., Goudie D; Regional Genetics Service, NHS Tayside, Dundee, Scotland, UK., Jewell R; Yorkshire Regional Genetics Service, Leeds Teaching Hospitals NHS Trust, Leeds, England, UK., Kraatari-Tiri M; Department of Clinical Genetics, Research unit of Clinical Medicine, Medical Research Center Oulu, Oulu, Finland.; Oulu University Hospital and University of Oulu, Oulu, Finland., Piard J; Centre de Génétique Humaine, CHU Besançon, Besançon, France., Coubes C; Service de Génétique Médicale, CHU de Montpellier, Montpellier, France., Lam W; South-East of Scotland Clinical Genetics Service, General Hospital, Edinburgh, Scotland, UK., Lynch SA; Clinical Genetics, Children's Health Ireland, Dublin, Ireland., Groeschel S; Department of Neuropediatrics, University Children's Hospital, Tuebingen, Germany., Ramond F; Service de Génétique, CHU Saint-Etienne - Hôpital Nord, Saint-Etienne, France., Fluss J; University Hospitals of Geneva, Geneva, Switzerland., Fagerberg C; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark., Brasch Andersen C; Human Genetik, Syddansk Universitet, Odense, Denmark., Varvagiannis K; Service de Médecine Génétique, Hôpitaux universitaires de Genève, Geneva, Switzerland., Kleefstra T; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, The Netherlands.; Center of Excellence for Neuropsychiatry, Vincent van Gogh Institute for Psychiatry, Venray, The Netherlands., Gérard B; Molecular Biology, Nouvel Hôpital Civil, Strasbourg, France., Fradin M; Service de Génétique Médicale, Hôpital Sud, CHU de Rennes, Rennes, France., Vitobello A; UMR-Inserm, Génétique des Anomalies du développement, Université de Bourgogne Franche-Comté, Dijon, France., Tenconi R; Servizio di Genetica Medica, Dipartimento di Pediatra, Padova, Italia., Denommé-Pichon AS; Unité Fonctionnelle Innovation en Diagnostic génomique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; UMR1231 GAD, Inserm - Université Bourgogne-Franche Comté, Dijon, France., Vincent-Devulder A; Génétique Médicale, CHU de Caen, Caen, France., Haack T; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Marsh JA; MRC Human Genetics Unit, Western General Hospital, University of Edinburgh, Edinburgh, Scotland, UK., Laulund LW; H C Andersen Children's Hospital, Odense University Hospital, Odense, Denmark., Grimmel M; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Riess A; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., de Boer E; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, The Netherlands., Padilla-Lopez S; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ, USA., Bakhtiari S; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ, USA., Ostendorf A; Steve and Cindy Rasmussen Institute for Genomic Medicine Nationwide Children's Hospital, Colombus, OH, USA.; Department of Pediatrics, The Ohio State University College of Medicine, Colombus, OH, USA., Zweier C; Department of Human Genetics, Inselspital Bern, University of Bern, 3010, Bern, Switzerland.; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054, Erlangen, Germany., Smol T; University of Lille, EA7364-RADEME, Medical Genetics Institute, Chu Lille, Lille, France., Willems M; Medical Genetic Department for Rare Diseases and Personalized Medicine, Reference Center AD SOOR, AnDDI-RARE, Groupe DI, Inserm U1298, INM, Montpellier University, Montpellier, France.; Centre Hospitalier Universitaire de Montpellier, Montpellier, France., Faivre L; UMR1231 GAD, Inserm, Université de Bourgogne-Franche Comté, Dijon, France.; Centre de Référence Maladies Rares « Anomalies du développement et syndromes malformatifs », Centre de Génétique, FHU-TRANSLAD et Institut GIMI, CHU dijon, Bourgogne, Dijon, France., Scala M; Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy., Striano P; Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy., Bagnasco I; Division of Child Neuropsychiatry, Martini Hospital, Torino, Italy., Koboldt D; Steve and Cindy Rasmussen Institute for Genomic Medicine Nationwide Children's Hospital, Colombus, OH, USA., Iascone M; Laboratorio Di Genetica Medica, Bergamo, Italy., Suerink M; Department of Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands., Kruer MC; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ, USA., Levy J; Département de Génétique, Hôpital Robert-Debré, Paris, France., Verloes A; Département de Génétique, Hôpital Robert-Debré, Paris, France., Abbott CM; Centre for Genomic and Experimental Medicine and Simons Initiative for the Developing Brain, Institute of Genetics and Cancer, Edinburgh, Scotland, UK., Ruaud L; Département de Génétique, Hôpital Robert-Debré, Paris, France.

Publikováno v: European journal of human genetics : EJHG [Eur J Hum Genet] 2024 Sep; Vol. 32 (9), pp. 1191.