ArticlemedRxiv : the preprint server for health sciences2025
Systematic analysis of snRNA genes reveals frequent
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206 authors.
Elsa LeitãoInstitute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany.ORCID 0000-0001-5051-9714
Amandine SantiniUniv Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Department of Genetics and Reference Center for Developmental Abnormalities, Rouen, France.ORCID 0009-0001-0738-0531
Benjamin CogneNantes Université, CHU de Nantes, Service de Génétique médicale, Nantes, France.ORCID 0000-0002-5503-6292
Myriam EssidGenetics Department, Hospices Civils de Lyon, Lyon, France.
Maria AthanasiadouCNRS, Inserm, Université de Strasbourg, IGBMC UMR 7104- UMR-S 1258, Illkirch, France.
Christy W LaFlammeCenter for Pediatric Neurological Disease Research, St. Jude Children's Research Hospital, Memphis, TN, USA.
Pierre MarijonLaboratoire SeqOIA, Paris, France.
Virginie BernardGCS AURAGEN, Lyon, France.
Nicolas ChatronGenetics Department, Hospices Civils de Lyon, Lyon, France.ORCID 0000-0003-0538-0981
Giulia BarciaAssistance Publique - Hôpitaux de Paris (APHP), Service de Médecine Génomique des Maladies Rares, Hôpital Necker-Enfants malades, Paris, France.
Boris KerenAssistance Publique - Hôpitaux de Paris (APHP) Sorbonne Université, Département de Génétique, Hôpital Pitié-Salpêtrière, Paris, France.
Cyril MignotAssistance Publique - Hôpitaux de Paris (APHP) Sorbonne Université, Département de Génétique, Hôpital Pitié-Salpêtrière, Paris, France.
Perrine CharlesAssistance Publique - Hôpitaux de Paris (APHP) Sorbonne Université, Département de Génétique, Hôpital Pitié-Salpêtrière, Paris, France.
Thomas BesnardNantes Université, CHU de Nantes, Service de Génétique médicale, Nantes, France.
Jean-Madeleine de Sainte AgatheAssistance Publique - Hôpitaux de Paris (APHP) Sorbonne Université, Département de Génétique, Hôpital Pitié-Salpêtrière, Paris, France.ORCID 0000-0002-7753-8226
Edith P Almanza FuerteCenter for Pediatric Neurological Disease Research, St. Jude Children's Research Hospital, Memphis, TN, USA.
Soham SenguptaCenter for Pediatric Neurological Disease Research, St. Jude Children's Research Hospital, Memphis, TN, USA.
Mathieu MilhService de Neurologie Pediatrique, AP-HM, Marseille, France.
Francis RamondDépartement de Génétique, Centre Hospitalier Universitaire de Saint-Etienne, Saint-Etienne, France.ORCID 0000-0003-4540-8096
Talia AllanEpilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria, Australia.
Isabelle AnAssistance Publique - Hôpitaux de Paris (APHP) Sorbonne Université, Département de Neurologie, Center of Reference for Rare Epilepsies, ERN EPICARE, Hôpital Pitié-Salpêtrière, Paris, France.
Camila AraujoDepartment of Surgery and Anatomy, Ribeirão Preto Medical School, University of São Paulo, Ribeirao Preto, Brazil.
Stephanie ArpinService de Génétique, CHU de Tours, Tours, France.
Christina Austin-TseBroad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Stéphane AuvinAssistance Publique - Hôpitaux de Paris (APHP), Département de Neuropédiatrie, Hôpital Robert-Debré, Paris, France.
Sarah BaerService de neuropédiatrie, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.
Nadia Bahi-BuissonUniversité Paris Cité, INSERM, IHU Imagine - Institut des maladies génétiques, Paris, France.
Mads BakDepartment of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Denmark.
Magalie BarthDepartment of Medical Genetics, Angers University Hospital, Angers, France.
Stéphanie BaulacSorbonne Université, Institut du Cerveau - Paris Brain Institute - ICM, Inserm, CNRS, APHP, Hôpital de la Pitié Salpêtrière, Paris, France.ORCID 0000-0001-6430-4693
Nathalie Bednark WeirauchService de Pédiatrie, CHU Reims, Reims, France.
Matthias BegemannInstitute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University Hospital, Aachen, Germany.
Mark F BennettEpilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria, Australia.ORCID 0000-0002-3561-6804
Uriel BensabathAssistance Publique - Hôpitaux de Paris (APHP) Sorbonne Université, Département de Génétique, Hôpital Pitié-Salpêtrière, Paris, France.
Stéphane BézieauNantes Université, CHU de Nantes, Service de Génétique médicale, Nantes, France.
Rakia BhouriDepartment of Ophthalmology, Centre Hospitalier Intercommunal de Créteil (CHIC), Créteil, France.
Margaux BiehlerLaboratoire de Diagnostic Génétique, Nouvel Hôpital Civil, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.
Trine Bjørg HammerDepartment of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Denmark.
Julie BogoinAssistance Publique - Hôpitaux de Paris (APHP) Sorbonne Université, Département de Génétique, Hôpital Pitié-Salpêtrière, Paris, France.
Emilie BonannoAssistance Publique - Hôpitaux de Paris (APHP) Sorbonne Université, Département de Génétique, Hôpital Pitié-Salpêtrière, Paris, France.
Simon BoussionUniv. Lille, CHU Lille, ULR7364 - RADEME, Lille, France.
Nuria C BramswigCentre of Medical Genetics, Department of Medical Genetics, University and University Hospital Münster, Münster, Germany.
Céline BrisDepartment of Medical Genetics, Angers University Hospital, Angers, France.
Adelaide Brosseau-BeauvirCenter for Intellectual Disability Reference, Brest University Hospital, Brest, France.
Ange-Line BruelUniversité Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génomique Médicale, Centre Neomics, FHU-TRANSLAD, Centre de recherche Translationnelle en Médecine moléculaire - Inserm UMR1231 équipe GAD, Dijon, France.
Julien BurattiAssistance Publique - Hôpitaux de Paris (APHP) Sorbonne Université, Département de Génétique, Hôpital Pitié-Salpêtrière, Paris, France.ORCID 0000-0002-0901-0905
Pascal ChambonUniv Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Department of Genetics and Reference Center for Developmental Abnormalities, Rouen, France.
Nicole ChemalyUniversité Paris Cité, INSERM, IHU Imagine - Institut des maladies génétiques, Paris, France.
Bertrand ChesneauService de Génétique médicale, CHU Purpan, Toulouse, France.
Estelle ColinDepartment of Medical Genetics, Angers University Hospital, Angers, France.
Maxime ColmardService de Neuropédiatrie, CHU Montpellier, Montpellier, France.
Solène ConradNantes Université, CHU de Nantes, Service de Génétique médicale, Nantes, France.
Thomas CourtinAssistance Publique - Hôpitaux de Paris (APHP), Service de Médecine Génomique des Maladies Rares, Hôpital Necker-Enfants malades, Paris, France.
Louis T DangDepartment of Pediatrics, Michigan Medicine, University of Michigan, Ann Arbor, USA.ORCID 0000-0003-4853-4952
Anne de Saint MartinService de neuropédiatrie, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.
Caroline de Vanssay de Blavous Legendreservice de Pédiatrie, consultation de neurologie pédiatrique GHH Jacques Monod, Le Havre, France.
Anne-Sophie Denommé-PichonUniversité Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génomique Médicale, Centre Neomics, FHU-TRANSLAD, Centre de recherche Translationnelle en Médecine moléculaire - Inserm UMR1231 équipe GAD, Dijon, France.ORCID 0000-0002-8986-8222
Stephanie DiTroiaBroad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Martine Doco-FenzyUF de Génétique Clinique, CHU de Reims, Reims, France.
Christèle DubourgLaboratoire de Génétique Moléculaire et Génomique, FHU GenOMedS, CHU Rennes, Rennes, France.
Charlotte DubucsDépartement de Pathologie, Institut Universitaire du Cancer Toulouse - Oncopole, Toulouse, France.
Stéphanie DucreuxAssistance Publique - Hôpitaux de Paris (APHP), Service de Médecine Génomique des Maladies Rares, Hôpital Necker-Enfants malades, Paris, France.
Louis DufourAssistance Publique - Hôpitaux de Paris (APHP), Département de Neuropédiatrie, Hôpital Robert-Debré, Paris, France.
Romain DuquetAssistance Publique - Hôpitaux de Paris (APHP) Sorbonne Université, Département de Génétique, Hôpital Pitié-Salpêtrière, Paris, France.
Benjamin DurandService de génétique médicale, Institut de Génétique Médicale d'Alsace (IGMA), CHU Strasbourg, Strasbourg, France.
Salima El ChehadehService de génétique médicale, Institut de Génétique Médicale d'Alsace (IGMA), CHU Strasbourg, Strasbourg, France.
Miriam ElbrachtInstitute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University Hospital, Aachen, Germany.
Laurence FaivreUniversité Bourgogne Europe, CHU Dijon Bourgogne, Inserm, CTM UMR1231, équipe GAD, FHU TRANSLAD, Centre de génétique, Centre de référence Anomalies du Développement et Syndromes Malformatifs, Centre de référence Déficiences Intellectuelles de Causes Rares et Centre de référence GénoPsy, Dijon, France.
Marie FaoucherLaboratoire de Génétique Moléculaire et Génomique, FHU GenOMedS, CHU Rennes, Rennes, France.
Anne FaudetAssistance Publique - Hôpitaux de Paris (APHP) Sorbonne Université, Département de Génétique, Hôpital Pitié-Salpêtrière, Paris, France.
Sylvie ForlaniSorbonne Université, Institut du Cerveau - Paris Brain Institute - ICM, Inserm, CNRS, APHP, Hôpital de la Pitié Salpêtrière, Paris, France.
Mélanie FradinService de Génétique Clinique, Centre de Référence "Anomalies du Développement et Syndromes Malformatifs" de l'Inter-région Ouest, FHU GenOMedS, CHU Rennes Hôpital Sud, Rennes, France.
Pauline GaignardLaboratoire de Biochimie Site Bicêtre, Faculté de Pharmacie, Hôpitaux Universitaires Paris-Saclay, Centre de référence des Maladies Mitochondriales, Filière Filnemu, Paris, France.
Benjamin GanneLaboratoire de Génétique chromosomique, CHU de Montpellier, Montpellier, France.
Aurore GardeUniversité Bourgogne Europe, CHU Dijon Bourgogne, Centre de Référence maladies rares «Anomalies du Développement et syndromes malformatifs», Centre de Génétique, FHU-TRANSLAD, Dijon, France.ORCID 0000-0003-3196-0453
Justine GéraudNeuropediatric Department, University Hospital Centre Toulouse, Toulouse, France.
Deepak GillKids Neuroscience Centre, Kids Research Institute, Sydney, NSW, Australia.
Alice GoldenbergUniv Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Department of Genetics and Reference Center for Developmental Abnormalities, Rouen, France.
David GrabliSorbonne Université, Institut du Cerveau - Paris Brain Institute - ICM, Inserm, CNRS, APHP, Hôpital de la Pitié Salpêtrière, Paris, France.
Coraline GriselService de Pédiatrie, Centre Hospitalier Intercommunal de Créteil, Créteil, France.
Sophie GuedenDepartment of Pediatric Neurology, Angers University Hospital, Angers, France.
Paul GueguenService de Génétique, CHU de Tours, Tours, France.
Anne-Marie GuerrotUniv Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Department of Genetics and Reference Center for Developmental Abnormalities, Rouen, France.
Agnès GuichetDepartment of Medical Genetics, Angers University Hospital, Angers, France.
Nina HärtingInstitute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany.
Martin Georg HäuslerDivision of Neuropediatrics and Social Pediatrics, Department of Pediatrics, University Hospital, Rheinisch-Westfälische Technische Hochschule Aachen, Aachen, Germany.
Solveig HeideAssistance Publique - Hôpitaux de Paris (APHP) Sorbonne Université, Département de Génétique, Hôpital Pitié-Salpêtrière, Paris, France.ORCID 0000-0002-4673-9762
Bénédicte HéronAssistance Publique - Hôpitaux de Paris (APHP) Sorbonne Université, Département de Neurologie Pédiatrique, Hôpital Armand Trousseau-La Roche Guyon, Fédération Hospitalo-Universitaire I2-D2, Paris, France.
Delphine HéronAssistance Publique - Hôpitaux de Paris (APHP) Sorbonne Université, Département de Génétique, Hôpital Pitié-Salpêtrière, Paris, France.
Mathilde HeulinService de Neuropédiatrie, Hôpital Jean-Verdier, Bondy, France.
Clara HoudayerDepartment of Medical Genetics, Angers University Hospital, Angers, France.
Bertrand IsidorNantes Université, CHU de Nantes, Service de Génétique médicale, Nantes, France.
Aurélia Jacquetteconsultation de génétique, CCMR ANDDI rare, centre hospitalier d'Alençon, Alençon, France.
Louis JanuelGenetics Department, Hospices Civils de Lyon, Lyon, France.
Nolwenn Jean-MarçaisService de Génétique Clinique, Centre de Référence "Anomalies du Développement et Syndromes Malformatifs" de l'Inter-région Ouest, FHU GenOMedS, CHU Rennes Hôpital Sud, Rennes, France.
Kevin JousselinLaboratoire SeqOIA, Paris, France.
Frank J KaiserInstitute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany.
Sabine KayaInstitute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany.
Chontelle KingDepartment of Paediatrics and Child Health, University of Otago, Wellington, New Zealand.
Marina KonyukhDépartement de Génétique Médicale, Hôpital Henri Mondor, Assistance Publique des Hôpitaux de Paris, Créteil, France.
Florian KraftInstitute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University Hospital, Aachen, Germany.ORCID 0000-0002-5324-9155
Jeremias KrauseInstitute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University Hospital, Aachen, Germany.ORCID 0000-0001-9915-7400
Rémi KirstetterAssistance Publique - Hôpitaux de Paris (APHP), Service de Médecine Génomique des Maladies Rares, Hôpital Necker-Enfants malades, Paris, France.
Alma KuechlerInstitute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany.
Ingo KurthInstitute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University Hospital, Aachen, Germany.ORCID 0000-0002-5642-8378
Audrey LabalmeGenetics Department, Hospices Civils de Lyon, Lyon, France.
Jean-Serene LaloyAssistance Publique - Hôpitaux de Paris (APHP), Service de Médecine Génomique des Maladies Rares, Hôpital Necker-Enfants malades, Paris, France.
Vincent LaugelService de neuropédiatrie, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.
Floriane Le BricquirNantes Université, CHU de Nantes, Service de Pédiatrie, Nantes, France.
Anne-Sophie LèbreLaboratoire de Génétique, CHU de Reims, Reims, France.
Marine LebrunDépartement de Génétique, Centre Hospitalier Universitaire de Saint-Etienne, Saint-Etienne, France.
Eric LeguernSorbonne Université, Institut du Cerveau - Paris Brain Institute - ICM, Inserm, CNRS, APHP, Hôpital de la Pitié Salpêtrière, Paris, France.
Jonathan LevyAssistance Publique - Hôpitaux de Paris (APHP), Département de Neuropédiatrie, Hôpital Robert-Debré, Paris, France.
Nico LiefferingDepartment of Paediatrics and Child Health, University of Otago, Wellington, New Zealand.
Stanislas LyonnetAssistance Publique - Hôpitaux de Paris (APHP), Service de Médecine Génomique des Maladies Rares, Hôpital Necker-Enfants malades, Paris, France.
Kevin LüthyInstitute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany.
Sian MacdonaldEpilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria, Australia.
Lamisse Mansour-HendiliLaboratoire SeqOIA, Paris, France.
Julien MaravalUniversité Bourgogne Europe, CHU Dijon Bourgogne, Inserm, CTM UMR1231, équipe GAD, FHU TRANSLAD, Centre de génétique, Centre de référence Anomalies du Développement et Syndromes Malformatifs, Centre de référence Déficiences Intellectuelles de Causes Rares et Centre de référence GénoPsy, Dijon, France.
Carolin MattauschInstitute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany.
Olfa MessaoudBroad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Godelieve MorelService de Génétique, CHU (Centre Hospitalier Universitaire) de La Réunion, Saint-Denis, La Réunion, France.
Jérémie MortreuxGCS AURAGEN, Lyon, France.
Arnold MunnichUniversité Paris Cité, INSERM, IHU Imagine - Institut des maladies génétiques, Paris, France.
Rima NabboutUniversité Paris Cité, INSERM, IHU Imagine - Institut des maladies génétiques, Paris, France.
Sophie NambotUniversité Bourgogne Europe, CHU Dijon Bourgogne, Centre de Référence maladies rares «Anomalies du Développement et syndromes malformatifs», Centre de Génétique, FHU-TRANSLAD, Dijon, France.
Vincent NavarroAssistance Publique - Hôpitaux de Paris (APHP) Sorbonne Université, Département de Neurologie, Center of Reference for Rare Epilepsies, ERN EPICARE, Hôpital Pitié-Salpêtrière, Paris, France.ORCID 0000-0003-0077-8114
Ashana NealeBroad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Laetitia NguyenAssistance Publique - Hôpitaux de Paris (APHP) Sorbonne Université, Département de Génétique, Hôpital Pitié-Salpêtrière, Paris, France.
Mathilde NizonNantes Université, CHU de Nantes, Service de Génétique médicale, Nantes, France.
Frédérique NowakHealth Technologies Institute, Inserm, Paris, France.
Melanie C O'LearyBroad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Sylvie OdentService de Génétique Clinique, Centre de Référence "Anomalies du Développement et Syndromes Malformatifs" de l'Inter-région Ouest, FHU GenOMedS, CHU Rennes Hôpital Sud, Rennes, France.
Naomi Meave OjedaDepartment of Neurosciences, University of California San Diego, La Jolla, CA, USA.
Valerie OlinAssistance Publique - Hôpitaux de Paris (APHP) Sorbonne Université, Département de Génétique, Hôpital Pitié-Salpêtrière, Paris, France.
Katrin ÕunapDepartment of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.
Lynn S PaisBroad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Robin PaluchInstitute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany.
Eleni PanagiotakakiDepartment of Pediatric Epileptology, University Hospitals of Lyon (HCL), Lyon, France.
Olivier PatatService de Génétique médicale, CHU Purpan, Toulouse, France.
Laurence Perrin-SabourinAssistance Publique - Hôpitaux de Paris (APHP), Département de Neuropédiatrie, Hôpital Robert-Debré, Paris, France.
Florence PetitUniv. Lille, CHU Lille, ULR7364 - RADEME, Lille, France.
Christophe PhilippeLaboratoire de Génétique Médicale, CHR Metz-Thionville, Hôpital Mercy, Metz, France.
Amélie PitonLaboratoire de Diagnostic Génétique, Nouvel Hôpital Civil, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.
Marc PlanesMedical Genetics Department, Brest University Hospital, Brest, France.
Céline PoirsierUF de Génétique Clinique, CHU de Reims, Reims, France.
Antoine PouzetAssistance Publique - Hôpitaux de Paris (APHP), Département de Neuropédiatrie, Hôpital Robert-Debré, Paris, France.
Clément ProuteauDepartment of Medical Genetics, Angers University Hospital, Angers, France.
Sylvia Quéméner-RedonMedical Genetics Department, Brest University Hospital, Brest, France.
Mathilde RenaudService de Génétique Clinique, CHRU Nancy, Vandoeuvre les Nancy, France.
Anne-Claire RichardUniv Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Department of Genetics and Reference Center for Developmental Abnormalities, Rouen, France.
Marlène RioAssistance Publique - Hôpitaux de Paris (APHP), Service de Médecine Génomique des Maladies Rares, Hôpital Necker-Enfants malades, Paris, France.
Clotilde RivierDepartment of Pediatrics, Hôpital Nord-Ouest, Villefranche sur Saône, France.
Florence Robin-RenaldoAssistance Publique - Hôpitaux de Paris (APHP) Sorbonne Université, Département de Neurologie Pédiatrique, Hôpital Armand Trousseau-La Roche Guyon, Fédération Hospitalo-Universitaire I2-D2, Paris, France.
Paul RollierService de Génétique Clinique, Centre de Référence "Anomalies du Développement et Syndromes Malformatifs" de l'Inter-région Ouest, FHU GenOMedS, CHU Rennes Hôpital Sud, Rennes, France.
Massimiliano RossiGenetics Department, Hospices Civils de Lyon, Lyon, France.
Agathe RoubertieService de Neuropédiatrie, CHU Montpellier, Montpellier, France.
Mailys RupinDepartment of Pediatric Neurology, Angers University Hospital, Angers, France.
Pascale Saugier-VeberUniv Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Department of Genetics and Reference Center for Developmental Abnormalities, Rouen, France.
Russell SanetoNeuroscience Institute, Norcliff Center for Integrative Brain Research, Division of Pediatric Neurology, Seattle Children's Hospital/University of Washington, Seattle, USA.
Elisabeth SarrazinCaribbean Reference Center for Neuromuscular Diseases, University Hospital, Fort de France, Martinique, France.
Elise SchaeferService de génétique médicale, Institut de Génétique Médicale d'Alsace (IGMA), CHU Strasbourg, Strasbourg, France.
Caroline Schluth-BolardLaboratoire de Diagnostic Génétique, Nouvel Hôpital Civil, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.
Amy SchneiderEpilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria, Australia.
Isabell SchumannCentre of Medical Genetics, Department of Medical Genetics, University and University Hospital Münster, Münster, Germany.
Vladimir SeplyarskiyDepartment of Biomedical Informatics, Harvard Medical School, Boston, MA, USA.ORCID 0000-0003-3161-8770
Thomas SmolUniv. Lille, CHU Lille, ULR7364 - RADEME, Lille, France.
Shamil SunyaevDepartment of Biomedical Informatics, Harvard Medical School, Boston, MA, USA.
Brian Sperelakis-BeedhamUniversité Paris Cité, INSERM, IHU Imagine - Institut des maladies génétiques, Paris, France.
Sarah L StentonBroad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Friedrich StockInstitute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany.
Mylene TharreauDepartment of Molecular Genetics and Cytogenomics, Rare and Autoinflammatory Genetic Diseases, CeRéMAIA, Arnaud de Villeneuve Hospital and University of Montpellier, Montpellier, France.
Deniz TorunDepartment of Medical Genetics, Gulhane Military Medical Academy, Ankara, Turkey.
Joseph ToulouseDepartment of Pediatric Epileptology, University Hospitals of Lyon (HCL), Lyon, France.
Harshini ThiyagarajahEpilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria, Australia.
Stéphanie ValenceAssistance Publique - Hôpitaux de Paris (APHP) Sorbonne Université, Département de Neurologie Pédiatrique, Hôpital Armand Trousseau-La Roche Guyon, Fédération Hospitalo-Universitaire I2-D2, Paris, France.
Sophie ValleixAssistance Publique - Hôpitaux de Paris (APHP), Paris City University, Genomic Medicine Department of systemic and organ diseases, Cochin hospital, Paris, France.
Laurent VillardService de Génétique Médicale, AP-HM, Marseille, France.
Dorothée VilleDepartment of Pediatric Neurology and Reference Center for Rare Children Epilepsy and Tuberous Sclerosis, Hôpital Femme Mere Enfant, Centre Hospitalier Universitaire de Lyon, Lyon, France.
Nathalie VilleneuveService de Neurologie Pediatrique, AP-HM, Marseille, France.
Antonio VitobelloUniversité Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génomique Médicale, Centre Neomics, FHU-TRANSLAD, Centre de recherche Translationnelle en Médecine moléculaire - Inserm UMR1231 équipe GAD, Dijon, France.
Aurélie WaernessyckleAssistance Publique - Hôpitaux de Paris (APHP) Sorbonne Université, Département de Génétique, Hôpital Pitié-Salpêtrière, Paris, France.
Yvonne WeberSection of Epileptology, Department Neurology, Medical Faculty, University RWTH Aachen, Aachen, Germany.
Dagmar WieczorekInstitute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University Düsseldorf, Düsseldorf,, Düsseldorf, Germany.
Tom WitkowskiEpilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria, Australia.
Manya YadavilliDepartment of Neurosciences, University of California San Diego, La Jolla, CA, USA.
Tony YammineLaboratoire de Génétique, CHU de Reims, Reims, France.
Khaoula Zaafrane-KhachnaouiUniversité Côte d'Azur, Centre Hospitalier Universitaire de Nice, Inserm U1081, CNRS UMR7284, IRCAN, Nice, France.
Maha S ZakiClinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.
Alban ZieglerUF de Génétique Clinique, CHU de Reims, Reims, France.
Alban LermineLaboratoire SeqOIA, Paris, France.
Gael NicolasUniv Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Department of Genetics and Reference Center for Developmental Abnormalities, Rouen, France.ORCID 0000-0001-9391-7800
Joseph G GleesonDepartment of Neurosciences, University of California San Diego, La Jolla, CA, USA.
Lynette G SadleirDepartment of Paediatrics and Child Health, University of Otago, Wellington, New Zealand.
Michael S HildebrandEpilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria, Australia.
Ingrid E SchefferEpilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria, Australia.ORCID 0000-0002-2311-2174
Nicola WhiffinBig Data Institute, University of Oxford, Oxford, UK.
Anne O'Donnell-LuriaBroad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID 0000-0001-6418-9592
Heather C MeffordCenter for Pediatric Neurological Disease Research, St. Jude Children's Research Hospital, Memphis, TN, USA.
Pierre BlancLaboratoire SeqOIA, Paris, France.
Julien ThevenonService de Génétique, Génomique et Procréation, CHU Grenoble Alpes, Grenoble, France.
Camille CharbonnierUniv Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Department of Biostatistics and Reference Center for Developmental Abnormalities, Rouen, France.
Clément CharentonCNRS, Inserm, Université de Strasbourg, IGBMC UMR 7104- UMR-S 1258, Illkirch, France.
Christel DepienneInstitute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany.ORCID 0000-0002-7212-9554
Gaetan LescaGenetics Department, Hospices Civils de Lyon, Lyon, France.ORCID 0000-0001-7691-9492
Caroline NavaSorbonne Université, Institut du Cerveau - Paris Brain Institute - ICM, Inserm, CNRS, APHP, Hôpital de la Pitié Salpêtrière, Paris, France.ORCID 0000-0003-1272-0518
Funding
GMKF competing renewalU24HD090743 · NICHD · BROAD INSTITUTE, INC. · PI Stacey Gabriel · 2016 to 2026
$68.3MJoint Center for Mendelian GenomicsUM1HG008900 · NHGRI · BROAD INSTITUTE, INC. · PI O'DONNELL-LURIA, ANNE, REHM, HEIDI L · 2016 to 2020
$16.5MBroad Institute Mendelian Genomic Research CenterU01HG011755 · NHGRI · BROAD INSTITUTE, INC. · PI Anne O'Donnell-Luria, MICHAEL E TALKOWSKI · 2021 to 2026
$14.6MMolecular Characterization of Pontocerebellar HypoplasiaR01NS098004 · NINDS · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI JOSEPH G GLEESON · 2016 to 2026
$4.6MNHGRI NIH HHS U01 HG011755NHGRI NIH HHS UM1 HG008900NICHD NIH HHS U24 HD090743NINDS NIH HHS R01 NS098004Wellcome Trust
Abstract
Variants in spliceosomal small nuclear RNA (snRNA) genes
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What OpenQuestion holds
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Read underepoch 390
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.