ArticleEuropean journal of human genetics : EJHG2024
Correction: Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study.
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Article in European journal of human genetics : EJHG, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Authors and funding
49 authors at 20 institutions in 10 countries.
Alix PauletDépartement de Génétique, Hôpital Robert-Debré, Paris, France. alix.paulet@hotmail.fr.ORCID http://orcid.org/0009-0002-8498-9719
Cavan Bennett-NessCentre for Genomic and Experimental Medicine and Simons Initiative for the Developing Brain, Institute of Genetics and Cancer, Edinburgh, Scotland, UK.
Faustine AgeorgesDépartement de Génétique, Hôpital Robert-Debré, Paris, France.
Detlef TrostLaboratoire Cerba, Saint-Ouen l'Aumône, France.
Andrew GreenUCD School of Medicine and Medical Science Consultant in Clinical Genetics, Dublin, Ireland.ORCID http://orcid.org/0000-0002-1077-7417
David GoudieRegional Genetics Service, NHS Tayside, Dundee, Scotland, UK.
Rosalyn JewellYorkshire Regional Genetics Service, Leeds Teaching Hospitals NHS Trust, Leeds, England, UK.ORCID http://orcid.org/0000-0002-9909-7142
Minna Kraatari-TiriDepartment of Clinical Genetics, Research unit of Clinical Medicine, Medical Research Center Oulu, Oulu, Finland.ORCID http://orcid.org/0000-0002-8072-699X
Juliette PiardCentre de Génétique Humaine, CHU Besançon, Besançon, France.ORCID http://orcid.org/0000-0001-5244-5325
Christine CoubesService de Génétique Médicale, CHU de Montpellier, Montpellier, France.
Wayne LamSouth-East of Scotland Clinical Genetics Service, General Hospital, Edinburgh, Scotland, UK.ORCID http://orcid.org/0000-0002-6603-7469
Sally Ann LynchClinical Genetics, Children's Health Ireland, Dublin, Ireland.
Samuel GroeschelDepartment of Neuropediatrics, University Children's Hospital, Tuebingen, Germany.
Francis RamondService de Génétique, CHU Saint-Etienne - Hôpital Nord, Saint-Etienne, France.ORCID http://orcid.org/0000-0003-4540-8096
Joël FlussUniversity Hospitals of Geneva, Geneva, Switzerland.
Christina FagerbergDepartment of Clinical Genetics, Odense University Hospital, Odense, Denmark.ORCID http://orcid.org/0000-0002-5206-4327
Charlotte Brasch AndersenHuman Genetik, Syddansk Universitet, Odense, Denmark.
Konstantinos VarvagiannisService de Médecine Génétique, Hôpitaux universitaires de Genève, Geneva, Switzerland.
Tjitske KleefstraDepartment of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.
Bénédicte GérardMolecular Biology, Nouvel Hôpital Civil, Strasbourg, France.
Mélanie FradinService de Génétique Médicale, Hôpital Sud, CHU de Rennes, Rennes, France.ORCID http://orcid.org/0000-0002-2535-2198
Antonio VitobelloUMR-Inserm, Génétique des Anomalies du développement, Université de Bourgogne Franche-Comté, Dijon, France.ORCID http://orcid.org/0000-0003-3717-8374
Romano TenconiServizio di Genetica Medica, Dipartimento di Pediatra, Padova, Italia.
Anne-Sophie Denommé-PichonUnité Fonctionnelle Innovation en Diagnostic génomique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.ORCID http://orcid.org/0000-0002-8986-8222
Aline Vincent-DevulderGénétique Médicale, CHU de Caen, Caen, France.
Tobias HaackInstitute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
Joseph A MarshMRC Human Genetics Unit, Western General Hospital, University of Edinburgh, Edinburgh, Scotland, UK.ORCID http://orcid.org/0000-0003-4132-0628
Lone Walentin LaulundH C Andersen Children's Hospital, Odense University Hospital, Odense, Denmark.
Mona GrimmelInstitute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
Angelika RiessInstitute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
Elke de BoerDepartment of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.ORCID http://orcid.org/0000-0002-7022-577X
Sergio Padilla-LopezPediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ, USA.
Somayeh BakhtiariPediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ, USA.
Adam OstendorfSteve and Cindy Rasmussen Institute for Genomic Medicine Nationwide Children's Hospital, Colombus, OH, USA.
Christiane ZweierDepartment of Human Genetics, Inselspital Bern, University of Bern, 3010, Bern, Switzerland.
Thomas SmolUniversity of Lille, EA7364-RADEME, Medical Genetics Institute, Chu Lille, Lille, France.
Marjolaine WillemsMedical Genetic Department for Rare Diseases and Personalized Medicine, Reference Center AD SOOR, AnDDI-RARE, Groupe DI, Inserm U1298, INM, Montpellier University, Montpellier, France.
Laurence FaivreUMR1231 GAD, Inserm, Université de Bourgogne-Franche Comté, Dijon, France.
Marcello ScalaPediatric Neurology and Muscular Diseases Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
Pasquale StrianoPediatric Neurology and Muscular Diseases Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
Irene BagnascoDivision of Child Neuropsychiatry, Martini Hospital, Torino, Italy.
Daniel KoboldtSteve and Cindy Rasmussen Institute for Genomic Medicine Nationwide Children's Hospital, Colombus, OH, USA.
Maria IasconeLaboratorio Di Genetica Medica, Bergamo, Italy.
Manon SuerinkDepartment of Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands.
Michael C KruerPediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ, USA.ORCID http://orcid.org/0000-0002-1373-7891
Jonathan LevyDépartement de Génétique, Hôpital Robert-Debré, Paris, France.ORCID http://orcid.org/0000-0002-8822-816X
Alain VerloesDépartement de Génétique, Hôpital Robert-Debré, Paris, France.ORCID http://orcid.org/0000-0003-4819-0264
Catherine M AbbottCentre for Genomic and Experimental Medicine and Simons Initiative for the Developing Brain, Institute of Genetics and Cancer, Edinburgh, Scotland, UK.ORCID http://orcid.org/0000-0001-8794-7173
Lyse RuaudDépartement de Génétique, Hôpital Robert-Debré, Paris, France.ORCID http://orcid.org/0000-0003-4940-5896
Hôpital Robert-Debré · FRInserm · FRBarrow Neurological Institute · USUniversity of Tübingen · DEIstituto Giannina Gaslini · ITNationwide Children's Hospital · USOdense University Hospital · DKRadboud University Nijmegen · NLSimons Initiative for the Developing BrainWestern General Hospital · GBCentre Hospitalier Universitaire de Besançon · FRCentre Hospitalier Universitaire de Caen Normandie · FRCentre Hospitalier Universitaire de Montpellier · FRCentre Hospitalier Universitaire de Rennes · FRChildren's Health Ireland at Crumlin · IEHôpital Beau-Séjour · CHHôpital Civil, Strasbourg · FRHôpital Nord · FRLeeds Teaching Hospitals NHS Trust · GBLeiden University · NL
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