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Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition.

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Title: Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition.
Authors: Mirzaa GM; Norcliffe Foundation Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA. Ghayda.Mirzaa@seattlechildrens.org.; Department of Pediatrics, University of Washington School of Medicine, Seattle, WA, USA. Ghayda.Mirzaa@seattlechildrens.org.; Brotman Baty Institute for Precision Medicine, Seattle, WA, USA. Ghayda.Mirzaa@seattlechildrens.org., Yan K; Regenerative Medicine Program, Ottawa Hospital Research Institute, Ottawa, ON, Canada., Relator R; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada., Levesque M; Regenerative Medicine Program, Ottawa Hospital Research Institute, Ottawa, ON, Canada.; Department of Biochemistry, Microbiology, and Immunology, University of Ottawa, Ottawa, ON, Canada., Jayasinghe P; Regenerative Medicine Program, Ottawa Hospital Research Institute, Ottawa, ON, Canada.; Department of Cellular and Molecular Medicine, University of Ottawa, Ottawa, ON, Canada., Timpano S; Regenerative Medicine Program, Ottawa Hospital Research Institute, Ottawa, ON, Canada., Yalcin B; INSERM UMR1231, University of Bourgogne, Dijon, France., Collins S; INSERM UMR1231, University of Bourgogne, Dijon, France., Ziegler A; Service de Génétique Médicale, CHU de Toulouse, Toulouse, France., Pao E; Norcliffe Foundation Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA., Oyama N; Norcliffe Foundation Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA., Brischoux-Boucher E; Centre Génétique Humaine, Centre Hospitalier Universitaire de Besançon, Besançon, France., Piard J; Centre Génétique Humaine, Centre Hospitalier Universitaire de Besançon, Besançon, France.; INSERM UMR1231, Equipe Génétique des Anomalies du Développement, Université de Bourgogne-Franche-Comté, Dijon, France., Monaghan KG; GeneDx, Gaithersburg, MD, USA., Guillen Sacoto MJ; GeneDx, Gaithersburg, MD, USA., Dobyns WB; Department of Pediatrics, University of Minnesota, Minneapolis, MN, USA., Park KL; Departments of Pediatrics and Neurology, University of Colorado School of Medicine, Aurora CO, USA., Fernández-Mayoralas DM; Neuropediatric Department, Hospital Universitario Quirónsalud, Madrid, Spain.; Universidad Europea de Madrid, Madrid, Spain., Fernández-Jaén A; Neuropediatric Department, Hospital Universitario Quirónsalud, Madrid, Spain.; Universidad Europea de Madrid, Madrid, Spain., Jayakar P; Division of Genetics and Metabolism, Nicklaus Children's Hospital, Miami, FL, USA., Palomares-Bralo M; INGEMM-IdiPaz, Institute of Medical and Molecular Genetics, Madrid, Spain.; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid, Spain., Santos-Simarro F; Unit of Molecular Diagnostics and Clinical Genetics, Hospital Universitari Son Espases, Health Research Institute of the Balearic Islands (IdISBa), Palma, Spain., Brusco A; Department of Neurosciences Rita Levi-Montalcini, University of Turin, Turin, Italy.; Molecular Biotechnology Center 'Guido Tarrone', University of Turin, Turin, Italy.; Medical Genetics Unit, Città della Salute e della Scienza University Hospital, Turin, Italy., Antona V; Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties 'G. D'Alessandro, ' University of Palermo, Palermo, Italy., Giorgio E; Department of Molecular Medicine, University of Pavia, Pavia, Italy.; Neurogenetics Research Center, IRCCS Mondino Foundation, Pavia, Italy., Kvarnung M; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden., Isidor B; Nantes Université, CHU de Nantes, CNRS, INSERM, L'institut du thorax, Nantes, France.; Nantes Université, CHU de Nantes, Service de Génétique médicale, Nantes, France., Conrad S; Nantes Université, CHU de Nantes, CNRS, INSERM, L'institut du thorax, Nantes, France.; Nantes Université, CHU de Nantes, Service de Génétique médicale, Nantes, France., Cogné B; Nantes Université, CHU de Nantes, CNRS, INSERM, L'institut du thorax, Nantes, France.; Nantes Université, CHU de Nantes, Service de Génétique médicale, Nantes, France., Deb W; Nantes Université, CHU de Nantes, CNRS, INSERM, L'institut du thorax, Nantes, France.; Nantes Université, CHU de Nantes, Service de Génétique médicale, Nantes, France., Stuurman KE; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, Netherlands., Štěrbová K; Department of Paediatric Neurology, Second Faculty of Medicine, Charles University and Motol Epilepsy Center, University Hospital Motol, Prague, Czech Republic., Smal N; Applied & Translational Neurogenomics Group, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium., Weckhuysen S; Applied & Translational Neurogenomics Group, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium.; Translational Neurosciences, Faculty of Medicine and Health Science, University of Antwerp, Antwerp, Belgium.; Department of Neurology, Antwerp University Hospital, Antwerp, Belgium.; µNEURO Research Centre of Excellence, University of Antwerp, Antwerp, Belgium., Oegema R; Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, Netherlands., Innes AM; Departments of Medical Genetics and Pediatrics and Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, Canada., Koboldt DC; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH, USA., Ben-Omran T; Genetic and Genomic Medicine, Sidra, and Department of Medical Genetics, Hamad Medical Corporation, Doha, Qatar., Yeh RC; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, 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, and Cellular & Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, 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, and Cellular & Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, AZ, USA., Papavasiliou A; IASO Children's Hospital, Athens, Greece., Moutton S; Centre de Génétique Clinique, Centre de Référence Maladies Raes Anomalies du développement et Syndromes malformatifs, FHU TRANSLAD, INSERM UMR1231, CHU François Mitterrand, Dijon, France., Nambot S; Centre de Génétique Clinique, Centre de Référence Maladies Raes Anomalies du développement et Syndromes malformatifs, FHU TRANSLAD, INSERM UMR1231, CHU François Mitterrand, Dijon, France., Chanprasert S; Division of Medical Genetics, University of Washington, Seattle, WA, USA., Paolucci SA; Department of Laboratory Medicine and Pathology, University of Washington, Seattle, WA, USA., Miller K; Department of Pediatrics, University of Washington School of Medicine, Seattle, WA, USA., Burton B; Northwestern University Feinberg School of Medicine, Chicago, IL, USA.; Division of Genetics, Genomics, and Metabolism, Ann & Robert H Lurie Children's Hospital of Chicago, Chicago, IL, USA., Kim K; Northwestern University Feinberg School of Medicine, Chicago, IL, USA.; Division of Genetics, Genomics, and Metabolism, Ann & Robert H Lurie Children's Hospital of Chicago, Chicago, IL, USA., O'Heir E; Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT, Cambridge, MA, USA., Bruwer Z; Department of Paediatrics and Child Health, Red Cross War Memorial Children's Hospital, University of Cape Town, Rondebosch, South Africa., Donald KA; Department of Paediatrics and Child Health, Red Cross War Memorial Children's Hospital, University of Cape Town, Rondebosch, South Africa., Kleefstra T; Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands.; Center for excellence in neuropsychiatry, Vincent van Gogh, Venray, Netherlands., Goldstein A; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; The Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Angle B; Department of Genetics, Advocate Children's Hospital, Park Ridge, IL, USA., Bontempo K; Department of Genetics, Advocate Children's Hospital, Park Ridge, IL, USA., Miny P; Medical Genetics, Institute of Medical Genetics and Pathology, University Hospital Basel, Basel, Switzerland., Joset P; Medical Genetics, Institute of Medical Genetics and Pathology, University Hospital Basel, Basel, Switzerland., Demurger F; Service de Génétique, CHBA, Vannes, France., Hobson E; Leeds Clinical Genomics Service, Chapel Allerton Hospital, Leeds Teaching Hospitals NHS Trust, Leeds, UK., Pang L; Genomics Laboratory, Royal Devon and Exeter, Exeter, UK., Carpenter L; Saint Francis Health System, Inc, Tulsa, OK, USA., Li D; The Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA., Bonneau D; Service de Génétique Médicale, CHU de Toulouse, Toulouse, France.; MitoVasc, UMR CNRS 6015-INSERM 1083, University of Angers, Angers, France., Sadikovic B; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada.; Department of Pathology and Laboratory Medicine, Western University, London, ON, Canada., Picketts DJ; Regenerative Medicine Program, Ottawa Hospital Research Institute, Ottawa, ON, Canada. dpicketts@ohri.ca.; Department of Biochemistry, Microbiology, and Immunology, University of Ottawa, Ottawa, ON, Canada. dpicketts@ohri.ca.; Department of Cellular and Molecular Medicine, University of Ottawa, Ottawa, ON, Canada. dpicketts@ohri.ca.; Department of Medicine, University of Ottawa, Ottawa, ON, Canada. dpicketts@ohri.ca.
Source: Nature communications [Nat Commun] 2025 Nov 10; Vol. 16 (1), pp. 9875. Date of Electronic Publication: 2025 Nov 10.
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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  Data: Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition.
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  Label: Authors
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  Data: <searchLink fieldCode="AU" term="%22Mirzaa+GM%22">Mirzaa GM</searchLink>; Norcliffe Foundation Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA. Ghayda.Mirzaa@seattlechildrens.org.; Department of Pediatrics, University of Washington School of Medicine, Seattle, WA, USA. Ghayda.Mirzaa@seattlechildrens.org.; Brotman Baty Institute for Precision Medicine, Seattle, WA, USA. Ghayda.Mirzaa@seattlechildrens.org.<br /><searchLink fieldCode="AU" term="%22Yan+K%22">Yan K</searchLink>; Regenerative Medicine Program, Ottawa Hospital Research Institute, Ottawa, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Relator+R%22">Relator R</searchLink>; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Levesque+M%22">Levesque M</searchLink>; Regenerative Medicine Program, Ottawa Hospital Research Institute, Ottawa, ON, Canada.; Department of Biochemistry, Microbiology, and Immunology, University of Ottawa, Ottawa, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Jayasinghe+P%22">Jayasinghe P</searchLink>; Regenerative Medicine Program, Ottawa Hospital Research Institute, Ottawa, ON, Canada.; Department of Cellular and Molecular Medicine, University of Ottawa, Ottawa, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Timpano+S%22">Timpano S</searchLink>; Regenerative Medicine Program, Ottawa Hospital Research Institute, Ottawa, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Yalcin+B%22">Yalcin B</searchLink>; INSERM UMR1231, University of Bourgogne, Dijon, France.<br /><searchLink fieldCode="AU" term="%22Collins+S%22">Collins S</searchLink>; INSERM UMR1231, University of Bourgogne, Dijon, France.<br /><searchLink fieldCode="AU" term="%22Ziegler+A%22">Ziegler A</searchLink>; Service de Génétique Médicale, CHU de Toulouse, Toulouse, France.<br /><searchLink fieldCode="AU" term="%22Pao+E%22">Pao E</searchLink>; Norcliffe Foundation Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA.<br /><searchLink fieldCode="AU" term="%22Oyama+N%22">Oyama N</searchLink>; Norcliffe Foundation Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA.<br /><searchLink fieldCode="AU" term="%22Brischoux-Boucher+E%22">Brischoux-Boucher E</searchLink>; Centre Génétique Humaine, Centre Hospitalier Universitaire de Besançon, Besançon, France.<br /><searchLink fieldCode="AU" term="%22Piard+J%22">Piard J</searchLink>; Centre Génétique Humaine, Centre Hospitalier Universitaire de Besançon, Besançon, France.; INSERM UMR1231, Equipe Génétique des Anomalies du Développement, Université de Bourgogne-Franche-Comté, Dijon, France.<br /><searchLink fieldCode="AU" term="%22Monaghan+KG%22">Monaghan KG</searchLink>; GeneDx, Gaithersburg, MD, USA.<br /><searchLink fieldCode="AU" term="%22Guillen+Sacoto+MJ%22">Guillen Sacoto MJ</searchLink>; GeneDx, Gaithersburg, MD, USA.<br /><searchLink fieldCode="AU" term="%22Dobyns+WB%22">Dobyns WB</searchLink>; Department of Pediatrics, University of Minnesota, Minneapolis, MN, USA.<br /><searchLink fieldCode="AU" term="%22Park+KL%22">Park KL</searchLink>; Departments of Pediatrics and Neurology, University of Colorado School of Medicine, Aurora CO, USA.<br /><searchLink fieldCode="AU" term="%22Fernández-Mayoralas+DM%22">Fernández-Mayoralas DM</searchLink>; Neuropediatric Department, Hospital Universitario Quirónsalud, Madrid, Spain.; Universidad Europea de Madrid, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Fernández-Jaén+A%22">Fernández-Jaén A</searchLink>; Neuropediatric Department, Hospital Universitario Quirónsalud, Madrid, Spain.; Universidad Europea de Madrid, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Jayakar+P%22">Jayakar P</searchLink>; Division of Genetics and Metabolism, Nicklaus Children's Hospital, Miami, FL, USA.<br /><searchLink fieldCode="AU" term="%22Palomares-Bralo+M%22">Palomares-Bralo M</searchLink>; INGEMM-IdiPaz, Institute of Medical and Molecular Genetics, Madrid, Spain.; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Santos-Simarro+F%22">Santos-Simarro F</searchLink>; Unit of Molecular Diagnostics and Clinical Genetics, Hospital Universitari Son Espases, Health Research Institute of the Balearic Islands (IdISBa), Palma, Spain.<br /><searchLink fieldCode="AU" term="%22Brusco+A%22">Brusco A</searchLink>; Department of Neurosciences Rita Levi-Montalcini, University of Turin, Turin, Italy.; Molecular Biotechnology Center 'Guido Tarrone', University of Turin, Turin, Italy.; Medical Genetics Unit, Città della Salute e della Scienza University Hospital, Turin, Italy.<br /><searchLink fieldCode="AU" term="%22Antona+V%22">Antona V</searchLink>; Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties 'G. D'Alessandro, ' University of Palermo, Palermo, Italy.<br /><searchLink fieldCode="AU" term="%22Giorgio+E%22">Giorgio E</searchLink>; Department of Molecular Medicine, University of Pavia, Pavia, Italy.; Neurogenetics Research Center, IRCCS Mondino Foundation, Pavia, Italy.<br /><searchLink fieldCode="AU" term="%22Kvarnung+M%22">Kvarnung M</searchLink>; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.<br /><searchLink fieldCode="AU" term="%22Isidor+B%22">Isidor B</searchLink>; Nantes Université, CHU de Nantes, CNRS, INSERM, L'institut du thorax, Nantes, France.; Nantes Université, CHU de Nantes, Service de Génétique médicale, Nantes, France.<br /><searchLink fieldCode="AU" term="%22Conrad+S%22">Conrad S</searchLink>; Nantes Université, CHU de Nantes, CNRS, INSERM, L'institut du thorax, Nantes, France.; 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, CNRS, INSERM, L'institut du thorax, Nantes, France.; Nantes Université, CHU de Nantes, Service de Génétique médicale, Nantes, France.<br /><searchLink fieldCode="AU" term="%22Deb+W%22">Deb W</searchLink>; Nantes Université, CHU de Nantes, CNRS, INSERM, L'institut du thorax, Nantes, France.; Nantes Université, CHU de Nantes, Service de Génétique médicale, Nantes, France.<br /><searchLink fieldCode="AU" term="%22Stuurman+KE%22">Stuurman KE</searchLink>; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, Netherlands.<br /><searchLink fieldCode="AU" term="%22Štěrbová+K%22">Štěrbová K</searchLink>; Department of Paediatric Neurology, Second Faculty of Medicine, Charles University and Motol Epilepsy Center, University Hospital Motol, Prague, Czech Republic.<br /><searchLink fieldCode="AU" term="%22Smal+N%22">Smal N</searchLink>; Applied & Translational Neurogenomics Group, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium.<br /><searchLink fieldCode="AU" term="%22Weckhuysen+S%22">Weckhuysen S</searchLink>; Applied & Translational Neurogenomics Group, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium.; Translational Neurosciences, Faculty of Medicine and Health Science, University of Antwerp, Antwerp, Belgium.; Department of Neurology, Antwerp University Hospital, Antwerp, Belgium.; µNEURO Research Centre of Excellence, University of Antwerp, Antwerp, Belgium.<br /><searchLink fieldCode="AU" term="%22Oegema+R%22">Oegema R</searchLink>; Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, Netherlands.<br /><searchLink fieldCode="AU" term="%22Innes+AM%22">Innes AM</searchLink>; Departments of Medical Genetics and Pediatrics and Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, Canada.<br /><searchLink fieldCode="AU" term="%22Koboldt+DC%22">Koboldt DC</searchLink>; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH, USA.<br /><searchLink fieldCode="AU" term="%22Ben-Omran+T%22">Ben-Omran T</searchLink>; Genetic and Genomic Medicine, Sidra, and Department of Medical Genetics, Hamad Medical Corporation, Doha, Qatar.<br /><searchLink fieldCode="AU" term="%22Yeh+RC%22">Yeh RC</searchLink>; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, 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, and Cellular & Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, 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, and Cellular & Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, AZ, USA.<br /><searchLink fieldCode="AU" term="%22Papavasiliou+A%22">Papavasiliou A</searchLink>; IASO Children's Hospital, Athens, Greece.<br /><searchLink fieldCode="AU" term="%22Moutton+S%22">Moutton S</searchLink>; Centre de Génétique Clinique, Centre de Référence Maladies Raes Anomalies du développement et Syndromes malformatifs, FHU TRANSLAD, INSERM UMR1231, CHU François Mitterrand, Dijon, France.<br /><searchLink fieldCode="AU" term="%22Nambot+S%22">Nambot S</searchLink>; Centre de Génétique Clinique, Centre de Référence Maladies Raes Anomalies du développement et Syndromes malformatifs, FHU TRANSLAD, INSERM UMR1231, CHU François Mitterrand, Dijon, France.<br /><searchLink fieldCode="AU" term="%22Chanprasert+S%22">Chanprasert S</searchLink>; Division of Medical Genetics, University of Washington, Seattle, WA, USA.<br /><searchLink fieldCode="AU" term="%22Paolucci+SA%22">Paolucci SA</searchLink>; Department of Laboratory Medicine and Pathology, University of Washington, Seattle, WA, USA.<br /><searchLink fieldCode="AU" term="%22Miller+K%22">Miller K</searchLink>; Department of Pediatrics, University of Washington School of Medicine, Seattle, WA, USA.<br /><searchLink fieldCode="AU" term="%22Burton+B%22">Burton B</searchLink>; Northwestern University Feinberg School of Medicine, Chicago, IL, USA.; Division of Genetics, Genomics, and Metabolism, Ann & Robert H Lurie Children's Hospital of Chicago, Chicago, IL, USA.<br /><searchLink fieldCode="AU" term="%22Kim+K%22">Kim K</searchLink>; Northwestern University Feinberg School of Medicine, Chicago, IL, USA.; Division of Genetics, Genomics, and Metabolism, Ann & Robert H Lurie Children's Hospital of Chicago, Chicago, IL, USA.<br /><searchLink fieldCode="AU" term="%22O'Heir+E%22">O'Heir E</searchLink>; Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT, Cambridge, MA, USA.<br /><searchLink fieldCode="AU" term="%22Bruwer+Z%22">Bruwer Z</searchLink>; Department of Paediatrics and Child Health, Red Cross War Memorial Children's Hospital, University of Cape Town, Rondebosch, South Africa.<br /><searchLink fieldCode="AU" term="%22Donald+KA%22">Donald KA</searchLink>; Department of Paediatrics and Child Health, Red Cross War Memorial Children's Hospital, University of Cape Town, Rondebosch, South Africa.<br /><searchLink fieldCode="AU" term="%22Kleefstra+T%22">Kleefstra T</searchLink>; Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands.; Center for excellence in neuropsychiatry, Vincent van Gogh, Venray, Netherlands.<br /><searchLink fieldCode="AU" term="%22Goldstein+A%22">Goldstein A</searchLink>; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; The Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.<br /><searchLink fieldCode="AU" term="%22Angle+B%22">Angle B</searchLink>; Department of Genetics, Advocate Children's Hospital, Park Ridge, IL, USA.<br /><searchLink fieldCode="AU" term="%22Bontempo+K%22">Bontempo K</searchLink>; Department of Genetics, Advocate Children's Hospital, Park Ridge, IL, USA.<br /><searchLink fieldCode="AU" term="%22Miny+P%22">Miny P</searchLink>; Medical Genetics, Institute of Medical Genetics and Pathology, University Hospital Basel, Basel, Switzerland.<br /><searchLink fieldCode="AU" term="%22Joset+P%22">Joset P</searchLink>; Medical Genetics, Institute of Medical Genetics and Pathology, University Hospital Basel, Basel, Switzerland.<br /><searchLink fieldCode="AU" term="%22Demurger+F%22">Demurger F</searchLink>; Service de Génétique, CHBA, Vannes, France.<br /><searchLink fieldCode="AU" term="%22Hobson+E%22">Hobson E</searchLink>; Leeds Clinical Genomics Service, Chapel Allerton Hospital, Leeds Teaching Hospitals NHS Trust, Leeds, UK.<br /><searchLink fieldCode="AU" term="%22Pang+L%22">Pang L</searchLink>; Genomics Laboratory, Royal Devon and Exeter, Exeter, UK.<br /><searchLink fieldCode="AU" term="%22Carpenter+L%22">Carpenter L</searchLink>; Saint Francis Health System, Inc, Tulsa, OK, USA.<br /><searchLink fieldCode="AU" term="%22Li+D%22">Li D</searchLink>; The Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.<br /><searchLink fieldCode="AU" term="%22Bonneau+D%22">Bonneau D</searchLink>; Service de Génétique Médicale, CHU de Toulouse, Toulouse, France.; MitoVasc, UMR CNRS 6015-INSERM 1083, University of Angers, Angers, France.<br /><searchLink fieldCode="AU" term="%22Sadikovic+B%22">Sadikovic B</searchLink>; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada.; Department of Pathology and Laboratory Medicine, Western University, London, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Picketts+DJ%22">Picketts DJ</searchLink>; Regenerative Medicine Program, Ottawa Hospital Research Institute, Ottawa, ON, Canada. dpicketts@ohri.ca.; Department of Biochemistry, Microbiology, and Immunology, University of Ottawa, Ottawa, ON, Canada. dpicketts@ohri.ca.; Department of Cellular and Molecular Medicine, University of Ottawa, Ottawa, ON, Canada. dpicketts@ohri.ca.; Department of Medicine, University of Ottawa, Ottawa, ON, Canada. dpicketts@ohri.ca.
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  Data: <searchLink fieldCode="JN" term="%22101528555%22">Nature communications</searchLink> [Nat Commun] 2025 Nov 10; Vol. 16 (1), pp. 9875. <i>Date of Electronic Publication: </i>2025 Nov 10.
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      – TitleFull: Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition.
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            – D: 10
              M: 11
              Text: 2025 Nov 10
              Type: published
              Y: 2025
          Identifiers:
            – Type: issn-electronic
              Value: 2041-1723
          Numbering:
            – Type: volume
              Value: 16
            – Type: issue
              Value: 1
          Titles:
            – TitleFull: Nature communications
              Type: main
ResultId 1