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De novo variants in the splicing factor gene SF3B1 are associated with neurodevelopmental disorders.

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Title: De novo variants in the splicing factor gene SF3B1 are associated with neurodevelopmental disorders.
Authors: Uguen K; Univ Brest, Inserm, EFS, UMR 1078, GGB, Brest, France.; Service de Génétique Médicale, CHU de Brest, Brest, France.; Centre de Référence Déficience Intellectuelle et Polyhandicap de causes rares, CHU de Brest, Brest, France., Bergot T; Univ Brest, Inserm, EFS, UMR 1078, GGB, Brest, France.; Currently in the Division of Structural Biology, The Institute of Cancer Research, London, England., Scott-Boyer MP; CHU de Québec-Laval University Research Center, Quebec City, QC, Canada., Chapalain S; Univ Brest, Inserm, EFS, UMR 1078, GGB, Brest, France., Desdouets C; Univ Brest, Inserm, EFS, UMR 1078, GGB, Brest, France., Commet S; Univ Brest, Inserm, EFS, UMR 1078, GGB, Brest, France., Zhu C; Center for Brain Repair and Rehabilitation, Institute of Neuroscience and Physiology, University of Gothenburg, Gothenburg, Sweden.; Henan Key Laboratory of Child Brain Injury and Henan Pediatric Clinical Research Center, Institute of Neuroscience and Third Affiliated Hospital of Zhengzhou University, Zhengzhou, China., Xu Y; Henan Key Laboratory of Child Brain Injury and Henan Pediatric Clinical Research Center, Institute of Neuroscience and Third Affiliated Hospital of Zhengzhou University, Zhengzhou, China., Wang Y; Institutes of Biomedical Sciences and Children's Hospital, Fudan University, Shanghai, China., Roscioli T; New South Wales Health Pathology Randwick Genomics, Prince of Wales Hospital, Sydney, NSW, Australia.; Neuroscience Research Australia (NeuRA), University of New South Wales Sydney, Sydney, NSW, Australia., Tran-Mau-Them F; Université 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., Faivre L; Université 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., Maraval J; Université 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., Delanne J; Université 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., Denommé-Pichon AS; Université 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., Vitobello A; Université 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., Jost C; Université 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., Planes M; Service de Génétique Médicale, CHU de Brest, Brest, France.; Centre de Référence Déficience Intellectuelle et Polyhandicap de causes rares, CHU de Brest, Brest, France., Hiatt S; HudsonAlpha Institute for Biotechnology, Huntsville, AL, USA., Wheeler P; Division of Genetics, Arnold Palmer Hospital for Children-Orlando Health, Orlando, FL, USA., Gonzaga-Jauregui C; International Laboratory for Human Genome Research, Laboratorio Internacional de Investigación sobre el Genoma Humano, Universidad Nacional Autónoma de México, Juriquilla, México., Wang H; DDC Clinic for Special Needs Children, Middlefield, OH, USA., Xin B; DDC Clinic for Special Needs Children, Middlefield, OH, USA., Sency V; DDC Clinic for Special Needs Children, Middlefield, OH, USA., Kruer MC; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ, USA.; Departments of Child Health, Neurology, Cellular & Molecular Medicine and Program in Genetics, University of Arizona College of Medicine, Phoenix, AZ, USA., Bakhtiari S; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ, USA.; Departments of Child Health, Neurology, Cellular & Molecular Medicine and Program in Genetics, University of Arizona College of Medicine, Phoenix, AZ, USA., Sulem P; deCODE Genetics/Amgen, Inc, Reykjavik, Iceland., Curry C; Genetic Medicine, University of California, San Francisco, Fresno, CA, USA., Prescott T; Department of Medical Genetics, Telemark Hospital Trust, Skien, Norway., Strobl-Wildemann G; Department of Human Genetics, MVZ Humangenetik Ulm, Ulm, Germany., Brunet T; Institute of Human Genetics, Klinikum Rechts der Isar, School of Medicine and Health, Technical University of Munich, Munich, Germany., Doco Fenzy M; Nantes Université, CHU de Nantes, Service de Génétique médicale, Nantes, France.; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France., Courtin T; Sorbonne Université, Institut du Cerveau-Paris Brain Institute-ICM, Inserm, CNRS, Paris, France.; Assistance Publique Hôpitaux de Paris, Hôpital Pitié-Salpêtrière, Département de Génétique, DMU BioGeM, Paris, France., Poirsier C; Département de génétique médicale, CHU Reims, Reims, France., Bjørg Hammer T; Department of Epilepsy Genetics and Personalized Treatment, The Filadelfia Danish Epilepsy Centre, Dianalund, Denmark.; Department of Clinical Genetics, Copenhagen University Hospital, Copenhagen, Denmark., Fenger CD; Department of Epilepsy Genetics and Personalized Treatment, The Filadelfia Danish Epilepsy Centre, Dianalund, Denmark., MacPherson M; Department of Medical Genetics, Faculty of Medicine and Dentistry, University of Alberta, Alberta Health Services, Edmonton, AB, Canada., Izumi K; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Leonard J; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Li D; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Zackai EH; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Glass IA; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA, USA., Ward S; Department of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, TN, USA., Campeau PM; Centre de Recherche Azrieli du CHU Sainte-Justine, University of Montreal, Montreal, QC, Canada., Borroto MCH; Centre de Recherche Azrieli du CHU Sainte-Justine, University of Montreal, Montreal, QC, Canada., Le Moigno L; Service de Pédiatrie et Unité d'Urgence Pédiatrique, Centre Hospitalier de Cornouaille, Quimper, France., Van Esch H; Center for Human Genetics, University Hospitals Leuven, Herestraat 49, Leuven, Belgium., De Waele L; Department of Child Neurology, University Hospitals Leuven, Herestraat 49, Leuven, Belgium., Calame DG; Section of Pediatric Neurology, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA., Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Barcia G; Service de Médecine Génomique des Maladies Rares, Hôpital Necker - Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France., Peduto C; Service de Médecine Génomique des Maladies Rares, Hôpital Necker - Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France., Planté-Bordeneuve P; Service de Médecine Génomique des Maladies Rares, Hôpital Necker - Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France., Dupuis L; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children and University of Toronto, Toronto, ON, Canada., Mendoza-Londono R; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children and University of Toronto, Toronto, ON, Canada., Stavropoulos DJ; Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON, Canada., Gillibert-Duplantier J; VECT'UB, TBMCore, CNRS UAR 3427, INSERM US005, Université de Bordeaux, Bordeaux, France., Besnard T; Nantes Université, CHU de Nantes, Service de Génétique médicale, Nantes, France.; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France., Do Souto Ferreira L; Nantes Université, CHU de Nantes, Service de Génétique médicale, Nantes, France., Cogné B; Nantes Université, CHU de Nantes, Service de Génétique médicale, Nantes, France.; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France., Bézieau S; Nantes Université, CHU de Nantes, Service de Génétique médicale, Nantes, France.; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France., Droit A; CHU de Québec-Laval University Research Center, Quebec City, QC, Canada.; Department of Molecular Medicine, Faculty of Medicine, Laval University, Quebec City, QC, Canada., Corcos L; Univ Brest, Inserm, EFS, UMR 1078, GGB, Brest, France., Lippert E; Univ Brest, Inserm, EFS, UMR 1078, GGB, Brest, France.; Service d'hématologie biologique, CHU de Brest, Brest, France.; CRB Santé du CHU de Brest, Brest, France., Férec C; Univ Brest, Inserm, EFS, UMR 1078, GGB, Brest, France., Küry S; Nantes Université, CHU de Nantes, Service de Génétique médicale, Nantes, France.; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France., Bernard DG; Univ Brest, Inserm, EFS, UMR 1078, GGB, Brest, France. delphine.bernard@univ-brest.fr.; CRB Santé du CHU de Brest, Brest, France. delphine.bernard@univ-brest.fr.
Source: Nature communications [Nat Commun] 2026 Jan 23; Vol. 17 (1), pp. 1569. Date of Electronic Publication: 2026 Jan 23.
Publication Type: Journal Article
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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DbLabel: MEDLINE Ultimate
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Items – Name: Title
  Label: Title
  Group: Ti
  Data: De novo variants in the splicing factor gene SF3B1 are associated with neurodevelopmental disorders.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AU" term="%22Uguen+K%22">Uguen K</searchLink>; Univ Brest, Inserm, EFS, UMR 1078, GGB, Brest, France.; Service de Génétique Médicale, CHU de Brest, Brest, France.; Centre de Référence Déficience Intellectuelle et Polyhandicap de causes rares, CHU de Brest, Brest, France.<br /><searchLink fieldCode="AU" term="%22Bergot+T%22">Bergot T</searchLink>; Univ Brest, Inserm, EFS, UMR 1078, GGB, Brest, France.; Currently in the Division of Structural Biology, The Institute of Cancer Research, London, England.<br /><searchLink fieldCode="AU" term="%22Scott-Boyer+MP%22">Scott-Boyer MP</searchLink>; CHU de Québec-Laval University Research Center, Quebec City, QC, Canada.<br /><searchLink fieldCode="AU" term="%22Chapalain+S%22">Chapalain S</searchLink>; Univ Brest, Inserm, EFS, UMR 1078, GGB, Brest, France.<br /><searchLink fieldCode="AU" term="%22Desdouets+C%22">Desdouets C</searchLink>; Univ Brest, Inserm, EFS, UMR 1078, GGB, Brest, France.<br /><searchLink fieldCode="AU" term="%22Commet+S%22">Commet S</searchLink>; Univ Brest, Inserm, EFS, UMR 1078, GGB, Brest, France.<br /><searchLink fieldCode="AU" term="%22Zhu+C%22">Zhu C</searchLink>; Center for Brain Repair and Rehabilitation, Institute of Neuroscience and Physiology, University of Gothenburg, Gothenburg, Sweden.; Henan Key Laboratory of Child Brain Injury and Henan Pediatric Clinical Research Center, Institute of Neuroscience and Third Affiliated Hospital of Zhengzhou University, Zhengzhou, China.<br /><searchLink fieldCode="AU" term="%22Xu+Y%22">Xu Y</searchLink>; Henan Key Laboratory of Child Brain Injury and Henan Pediatric Clinical Research Center, Institute of Neuroscience and Third Affiliated Hospital of Zhengzhou University, Zhengzhou, China.<br /><searchLink fieldCode="AU" term="%22Wang+Y%22">Wang Y</searchLink>; Institutes of Biomedical Sciences and Children's Hospital, Fudan University, Shanghai, China.<br /><searchLink fieldCode="AU" term="%22Roscioli+T%22">Roscioli T</searchLink>; New South Wales Health Pathology Randwick Genomics, Prince of Wales Hospital, Sydney, NSW, Australia.; Neuroscience Research Australia (NeuRA), University of New South Wales Sydney, Sydney, NSW, Australia.<br /><searchLink fieldCode="AU" term="%22Tran-Mau-Them+F%22">Tran-Mau-Them F</searchLink>; Université 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.<br /><searchLink fieldCode="AU" term="%22Faivre+L%22">Faivre L</searchLink>; Université 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.<br /><searchLink fieldCode="AU" term="%22Maraval+J%22">Maraval J</searchLink>; Université 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.<br /><searchLink fieldCode="AU" term="%22Delanne+J%22">Delanne J</searchLink>; Université 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.<br /><searchLink fieldCode="AU" term="%22Denommé-Pichon+AS%22">Denommé-Pichon AS</searchLink>; Université 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.<br /><searchLink fieldCode="AU" term="%22Vitobello+A%22">Vitobello A</searchLink>; Université 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.<br /><searchLink fieldCode="AU" term="%22Jost+C%22">Jost C</searchLink>; Université 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.<br /><searchLink fieldCode="AU" term="%22Planes+M%22">Planes M</searchLink>; Service de Génétique Médicale, CHU de Brest, Brest, France.; Centre de Référence Déficience Intellectuelle et Polyhandicap de causes rares, CHU de Brest, Brest, France.<br /><searchLink fieldCode="AU" term="%22Hiatt+S%22">Hiatt S</searchLink>; HudsonAlpha Institute for Biotechnology, Huntsville, AL, USA.<br /><searchLink fieldCode="AU" term="%22Wheeler+P%22">Wheeler P</searchLink>; Division of Genetics, Arnold Palmer Hospital for Children-Orlando Health, Orlando, FL, USA.<br /><searchLink fieldCode="AU" term="%22Gonzaga-Jauregui+C%22">Gonzaga-Jauregui C</searchLink>; International Laboratory for Human Genome Research, Laboratorio Internacional de Investigación sobre el Genoma Humano, Universidad Nacional Autónoma de México, Juriquilla, México.<br /><searchLink fieldCode="AU" term="%22Wang+H%22">Wang H</searchLink>; DDC Clinic for Special Needs Children, Middlefield, OH, USA.<br /><searchLink fieldCode="AU" term="%22Xin+B%22">Xin B</searchLink>; DDC Clinic for Special Needs Children, Middlefield, OH, USA.<br /><searchLink fieldCode="AU" term="%22Sency+V%22">Sency V</searchLink>; DDC Clinic for Special Needs Children, Middlefield, OH, USA.<br /><searchLink fieldCode="AU" term="%22Kruer+MC%22">Kruer MC</searchLink>; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ, USA.; Departments of Child Health, Neurology, Cellular & Molecular Medicine and Program in Genetics, University of Arizona College of Medicine, Phoenix, AZ, USA.<br /><searchLink fieldCode="AU" term="%22Bakhtiari+S%22">Bakhtiari S</searchLink>; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ, USA.; Departments of Child Health, Neurology, Cellular & Molecular Medicine and Program in Genetics, University of Arizona College of Medicine, Phoenix, AZ, USA.<br /><searchLink fieldCode="AU" term="%22Sulem+P%22">Sulem P</searchLink>; deCODE Genetics/Amgen, Inc, Reykjavik, Iceland.<br /><searchLink fieldCode="AU" term="%22Curry+C%22">Curry C</searchLink>; Genetic Medicine, University of California, San Francisco, Fresno, CA, USA.<br /><searchLink fieldCode="AU" term="%22Prescott+T%22">Prescott T</searchLink>; Department of Medical Genetics, Telemark Hospital Trust, Skien, Norway.<br /><searchLink fieldCode="AU" term="%22Strobl-Wildemann+G%22">Strobl-Wildemann G</searchLink>; Department of Human Genetics, MVZ Humangenetik Ulm, Ulm, Germany.<br /><searchLink fieldCode="AU" term="%22Brunet+T%22">Brunet T</searchLink>; Institute of Human Genetics, Klinikum Rechts der Isar, School of Medicine and Health, Technical University of Munich, Munich, Germany.<br /><searchLink fieldCode="AU" term="%22Doco+Fenzy+M%22">Doco Fenzy M</searchLink>; Nantes Université, CHU de Nantes, Service de Génétique médicale, Nantes, France.; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France.<br /><searchLink fieldCode="AU" term="%22Courtin+T%22">Courtin T</searchLink>; Sorbonne Université, Institut du Cerveau-Paris Brain Institute-ICM, Inserm, CNRS, Paris, France.; Assistance Publique Hôpitaux de Paris, Hôpital Pitié-Salpêtrière, Département de Génétique, DMU BioGeM, Paris, France.<br /><searchLink fieldCode="AU" term="%22Poirsier+C%22">Poirsier C</searchLink>; Département de génétique médicale, CHU Reims, Reims, France.<br /><searchLink fieldCode="AU" term="%22Bjørg+Hammer+T%22">Bjørg Hammer T</searchLink>; Department of Epilepsy Genetics and Personalized Treatment, The Filadelfia Danish Epilepsy Centre, Dianalund, Denmark.; Department of Clinical Genetics, Copenhagen University Hospital, Copenhagen, Denmark.<br /><searchLink fieldCode="AU" term="%22Fenger+CD%22">Fenger CD</searchLink>; Department of Epilepsy Genetics and Personalized Treatment, The Filadelfia Danish Epilepsy Centre, Dianalund, Denmark.<br /><searchLink fieldCode="AU" term="%22MacPherson+M%22">MacPherson M</searchLink>; Department of Medical Genetics, Faculty of Medicine and Dentistry, University of Alberta, Alberta Health Services, Edmonton, AB, Canada.<br /><searchLink fieldCode="AU" term="%22Izumi+K%22">Izumi K</searchLink>; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.<br /><searchLink fieldCode="AU" term="%22Leonard+J%22">Leonard J</searchLink>; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.<br /><searchLink fieldCode="AU" term="%22Li+D%22">Li D</searchLink>; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.<br /><searchLink fieldCode="AU" term="%22Zackai+EH%22">Zackai EH</searchLink>; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.<br /><searchLink fieldCode="AU" term="%22Glass+IA%22">Glass IA</searchLink>; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA, USA.<br /><searchLink fieldCode="AU" term="%22Ward+S%22">Ward S</searchLink>; Department of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.<br /><searchLink fieldCode="AU" term="%22Campeau+PM%22">Campeau PM</searchLink>; Centre de Recherche Azrieli du CHU Sainte-Justine, University of Montreal, Montreal, QC, Canada.<br /><searchLink fieldCode="AU" term="%22Borroto+MCH%22">Borroto MCH</searchLink>; Centre de Recherche Azrieli du CHU Sainte-Justine, University of Montreal, Montreal, QC, Canada.<br /><searchLink fieldCode="AU" term="%22Le+Moigno+L%22">Le Moigno L</searchLink>; Service de Pédiatrie et Unité d'Urgence Pédiatrique, Centre Hospitalier de Cornouaille, Quimper, France.<br /><searchLink fieldCode="AU" term="%22Van+Esch+H%22">Van Esch H</searchLink>; Center for Human Genetics, University Hospitals Leuven, Herestraat 49, Leuven, Belgium.<br /><searchLink fieldCode="AU" term="%22De+Waele+L%22">De Waele L</searchLink>; Department of Child Neurology, University Hospitals Leuven, Herestraat 49, Leuven, Belgium.<br /><searchLink fieldCode="AU" term="%22Calame+DG%22">Calame DG</searchLink>; Section of Pediatric Neurology, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.<br /><searchLink fieldCode="AU" term="%22Lupski+JR%22">Lupski JR</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.<br /><searchLink fieldCode="AU" term="%22Barcia+G%22">Barcia G</searchLink>; Service de Médecine Génomique des Maladies Rares, Hôpital Necker - Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France.<br /><searchLink fieldCode="AU" term="%22Peduto+C%22">Peduto C</searchLink>; Service de Médecine Génomique des Maladies Rares, Hôpital Necker - Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France.<br /><searchLink fieldCode="AU" term="%22Planté-Bordeneuve+P%22">Planté-Bordeneuve P</searchLink>; Service de Médecine Génomique des Maladies Rares, Hôpital Necker - Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France.<br /><searchLink fieldCode="AU" term="%22Dupuis+L%22">Dupuis L</searchLink>; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children and University of Toronto, Toronto, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Mendoza-Londono+R%22">Mendoza-Londono R</searchLink>; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children and University of Toronto, Toronto, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Stavropoulos+DJ%22">Stavropoulos DJ</searchLink>; Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Gillibert-Duplantier+J%22">Gillibert-Duplantier J</searchLink>; VECT'UB, TBMCore, CNRS UAR 3427, INSERM US005, Université de Bordeaux, Bordeaux, France.<br /><searchLink fieldCode="AU" term="%22Besnard+T%22">Besnard T</searchLink>; Nantes Université, CHU de Nantes, Service de Génétique médicale, Nantes, France.; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France.<br /><searchLink fieldCode="AU" term="%22Do+Souto+Ferreira+L%22">Do Souto Ferreira L</searchLink>; Nantes Université, CHU de Nantes, Service de Génétique médicale, Nantes, France.<br /><searchLink fieldCode="AU" term="%22Cogné+B%22">Cogné B</searchLink>; Nantes Université, CHU de Nantes, Service de Génétique médicale, Nantes, France.; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France.<br /><searchLink fieldCode="AU" term="%22Bézieau+S%22">Bézieau S</searchLink>; Nantes Université, CHU de Nantes, Service de Génétique médicale, Nantes, France.; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France.<br /><searchLink fieldCode="AU" term="%22Droit+A%22">Droit A</searchLink>; CHU de Québec-Laval University Research Center, Quebec City, QC, Canada.; Department of Molecular Medicine, Faculty of Medicine, Laval University, Quebec City, QC, Canada.<br /><searchLink fieldCode="AU" term="%22Corcos+L%22">Corcos L</searchLink>; Univ Brest, Inserm, EFS, UMR 1078, GGB, Brest, France.<br /><searchLink fieldCode="AU" term="%22Lippert+E%22">Lippert E</searchLink>; Univ Brest, Inserm, EFS, UMR 1078, GGB, Brest, France.; Service d'hématologie biologique, CHU de Brest, Brest, France.; CRB Santé du CHU de Brest, Brest, France.<br /><searchLink fieldCode="AU" term="%22Férec+C%22">Férec C</searchLink>; Univ Brest, Inserm, EFS, UMR 1078, GGB, Brest, France.<br /><searchLink fieldCode="AU" term="%22Küry+S%22">Küry S</searchLink>; Nantes Université, CHU de Nantes, Service de Génétique médicale, Nantes, France.; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France.<br /><searchLink fieldCode="AU" term="%22Bernard+DG%22">Bernard DG</searchLink>; Univ Brest, Inserm, EFS, UMR 1078, GGB, Brest, France. delphine.bernard@univ-brest.fr.; CRB Santé du CHU de Brest, Brest, France. delphine.bernard@univ-brest.fr.
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  Data: <searchLink fieldCode="JN" term="%22101528555%22">Nature communications</searchLink> [Nat Commun] 2026 Jan 23; Vol. 17 (1), pp. 1569. <i>Date of Electronic Publication: </i>2026 Jan 23.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Nature+Pub%2E+Group%22">Nature Pub. Group </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>101528555 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>2041-1723 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2220411723%22">20411723 </searchLink><i>NLM ISO Abbreviation: </i>Nat Commun <i>Subsets: </i>MEDLINE
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        Value: 10.1038/s41467-026-68284-9
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      – TitleFull: De novo variants in the splicing factor gene SF3B1 are associated with neurodevelopmental disorders.
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              Text: 2026 Jan 23
              Type: published
              Y: 2026
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            – TitleFull: Nature communications
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