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Multiomic approaches identify a rare CCG repeat expansion in BCLAF3 in neurodevelopmental disorders.

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Title: Multiomic approaches identify a rare CCG repeat expansion in BCLAF3 in neurodevelopmental disorders.
Authors: LaFlamme CW; Department of Genomic and Translational Neuroscience, Center for Pediatric Neurological Disease Research, St. Jude Children's Research Hospital, Memphis, TN, 38105, USA.; Graduate School of Biomedical Sciences, St. Jude Children's Research Hospital, Memphis, TN, 38105, USA., Clarkson C; Clinical Pharmacology and Precision Medicine, School of Medicine and Dentistry, William Harvey Research Institute, Queen Mary University of London, London, UK.; Department of Neuromuscular Diseases, UCL Institute of Neurology, London, WC1N 3BG, UK., Ibañez K; Clinical Pharmacology and Precision Medicine, School of Medicine and Dentistry, William Harvey Research Institute, Queen Mary University of London, London, UK., Wang JY; Department of Genomic and Translational Neuroscience, Center for Pediatric Neurological Disease Research, St. Jude Children's Research Hospital, Memphis, TN, 38105, USA., Sengupta S; Department of Genomic and Translational Neuroscience, Center for Pediatric Neurological Disease Research, St. Jude Children's Research Hospital, Memphis, TN, 38105, USA., Lord J; Sheffield Institute for Translational Neuroscience (SITraN), The University of Sheffield, Sheffield, UK., Valentine V; Cytogenetics Shared Resource, St. Jude Children's Research Hospital, Memphis, TN, USA., Bonkowski ES; Department of Genomic and Translational Neuroscience, Center for Pediatric Neurological Disease Research, St. Jude Children's Research Hospital, Memphis, TN, 38105, USA., Almanza Fuerte EP; Department of Genomic and Translational Neuroscience, Center for Pediatric Neurological Disease Research, St. Jude Children's Research Hospital, Memphis, TN, 38105, USA., Olszewski AR; Department of Genomic and Translational Neuroscience, Center for Pediatric Neurological Disease Research, St. Jude Children's Research Hospital, Memphis, TN, 38105, USA.; Graduate School of Biomedical Sciences, St. Jude Children's Research Hospital, Memphis, TN, 38105, USA., Ghosh S; Department of Pathology & Laboratory Medicine, Western University, London, ON, N5A 3K7, Canada., Jadhav B; Department of Genetics and Genomic Sciences and Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Mack T; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, 98195, USA., Lin J; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, 98195, USA., Gibson SB; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, 98195, USA.; Division of Genetic Medicine, Department of Pediatrics, University of Washington and Seattle Children's Hospital, Seattle, WA, 98195, USA., van Hagen JM; Department of Human Genetics, Amsterdam UMC Location Vrije Universiteit Amsterdam, Amsterdam, Netherlands., Alders M; Department of Human Genetics, Amsterdam Reproduction and Development Research Institute, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, Amsterdam, 1105 AZ, Netherlands., Martin-Geary A; Big Data Institute, University of Oxford, Oxford, UK.; Centre for Human Genetics, University of Oxford, Oxford, UK., Gu B; Department of Quantitative and Computational Biology, University of Southern California, Los Angeles, CA, 90089, USA., Kharbanda M; University Hospital Southampton NHS Foundation Trust, Southampton, UK., Banka S; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.; Manchester Centre for Genomic Medicine, St. Mary's Hospital, Health Innovation Manchester, Manchester, UK., Stuart HM; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, UK.; Division of Evolution, Infection and Genomics, Faculty of Biology, Medicine, and Human Sciences, University of Manchester, Manchester, UK., Webster AR; Institute of Ophthalmology, University College London, 11-43 Bath Street, London, UK.; Genetics, Moorfields Eye Hospital NHS Foundation Trust, 162 City Road, London, EC1V 2PD, UK., Hosokawa A; Department of Paediatrics and Child Health, University of Otago, Wellington, 6242, New Zealand., Dashnow H; Department of Biomedical Informatics, School of Medicine, University of Colorado Anschutz, Aurora, CO, USA.; Department of Human Genetics, University of Utah, Salt Lake City, UT, USA., Bajpai R; Center for Advanced Genome Engineering, Department of Cell and Molecular Biology, St. Jude Children's Research Hospital, Memphis, TN, 38105, USA., Pruett-Miller SM; Center for Advanced Genome Engineering, Department of Cell and Molecular Biology, St. Jude Children's Research Hospital, Memphis, TN, 38105, USA., Chaisson MJP; Department of Quantitative and Computational Biology, University of Southern California, Los Angeles, CA, 90089, USA., Miller DE; Division of Genetic Medicine, Department of Pediatrics, University of Washington and Seattle Children's Hospital, Seattle, WA, 98195, USA.; Department of Laboratory Medicine and Pathology, University of Washington, Seattle, WA, 98195, USA.; Brotman Baty Institute for Precision Medicine, University of Washington, Seattle, WA, 98195, USA., Whiffin N; Big Data Institute, University of Oxford, Oxford, UK.; Centre for Human Genetics, University of Oxford, Oxford, UK.; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Eichler EE; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, 98195, USA.; Howard Hughes Medical Institute, University of Washington, Seattle, WA, 98195, USA., Sisodiya SM; Department of Epilepsy, UCL Queen Square Institute of Neurology, London, UK.; Chalfont Centre for Epilepsy, Chalfont Saint Peter, Buckinghamshire, UK., Houlden H; Department of Neuromuscular Diseases, UCL Institute of Neurology, London, WC1N 3BG, UK., Sharp AJ; Department of Genetics and Genomic Sciences and Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Sadikovic B; Department of Pathology & Laboratory Medicine, Western University, London, ON, N5A 3K7, Canada.; Verspeeten Clinical Genome Centre, London Health Science Centre, London, ON, N6A 5W9, Canada., Valentine M; Cytogenetics Shared Resource, St. Jude Children's Research Hospital, Memphis, TN, USA., Sadleir LG; Department of Paediatrics and Child Health, University of Otago, Wellington, 6242, New Zealand., Tucci A; Clinical Pharmacology and Precision Medicine, School of Medicine and Dentistry, William Harvey Research Institute, Queen Mary University of London, London, UK.; Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, University College London, London, WC1E 6BT, UK., Mefford HC; Department of Genomic and Translational Neuroscience, Center for Pediatric Neurological Disease Research, St. Jude Children's Research Hospital, Memphis, TN, 38105, USA. Heather.Mefford@stjude.org.
Source: Genome medicine [Genome Med] 2026 Jul 22. Date of Electronic Publication: 2026 Jul 22.
Publication Type: Journal Article
Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101475844 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1756-994X (Electronic) Linking ISSN: 1756994X NLM ISO Abbreviation: Genome Med Subsets: MEDLINE
Database: MEDLINE Ultimate
FullText Text:
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PubType: Academic Journal
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  Data: Multiomic approaches identify a rare CCG repeat expansion in BCLAF3 in neurodevelopmental disorders.
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  Data: <searchLink fieldCode="AU" term="%22LaFlamme+CW%22">LaFlamme CW</searchLink>; Department of Genomic and Translational Neuroscience, Center for Pediatric Neurological Disease Research, St. Jude Children's Research Hospital, Memphis, TN, 38105, USA.; Graduate School of Biomedical Sciences, St. Jude Children's Research Hospital, Memphis, TN, 38105, USA.<br /><searchLink fieldCode="AU" term="%22Clarkson+C%22">Clarkson C</searchLink>; Clinical Pharmacology and Precision Medicine, School of Medicine and Dentistry, William Harvey Research Institute, Queen Mary University of London, London, UK.; Department of Neuromuscular Diseases, UCL Institute of Neurology, London, WC1N 3BG, UK.<br /><searchLink fieldCode="AU" term="%22Ibañez+K%22">Ibañez K</searchLink>; Clinical Pharmacology and Precision Medicine, School of Medicine and Dentistry, William Harvey Research Institute, Queen Mary University of London, London, UK.<br /><searchLink fieldCode="AU" term="%22Wang+JY%22">Wang JY</searchLink>; Department of Genomic and Translational Neuroscience, Center for Pediatric Neurological Disease Research, St. Jude Children's Research Hospital, Memphis, TN, 38105, USA.<br /><searchLink fieldCode="AU" term="%22Sengupta+S%22">Sengupta S</searchLink>; Department of Genomic and Translational Neuroscience, Center for Pediatric Neurological Disease Research, St. Jude Children's Research Hospital, Memphis, TN, 38105, USA.<br /><searchLink fieldCode="AU" term="%22Lord+J%22">Lord J</searchLink>; Sheffield Institute for Translational Neuroscience (SITraN), The University of Sheffield, Sheffield, UK.<br /><searchLink fieldCode="AU" term="%22Valentine+V%22">Valentine V</searchLink>; Cytogenetics Shared Resource, St. Jude Children's Research Hospital, Memphis, TN, USA.<br /><searchLink fieldCode="AU" term="%22Bonkowski+ES%22">Bonkowski ES</searchLink>; Department of Genomic and Translational Neuroscience, Center for Pediatric Neurological Disease Research, St. Jude Children's Research Hospital, Memphis, TN, 38105, USA.<br /><searchLink fieldCode="AU" term="%22Almanza+Fuerte+EP%22">Almanza Fuerte EP</searchLink>; Department of Genomic and Translational Neuroscience, Center for Pediatric Neurological Disease Research, St. Jude Children's Research Hospital, Memphis, TN, 38105, USA.<br /><searchLink fieldCode="AU" term="%22Olszewski+AR%22">Olszewski AR</searchLink>; Department of Genomic and Translational Neuroscience, Center for Pediatric Neurological Disease Research, St. Jude Children's Research Hospital, Memphis, TN, 38105, USA.; Graduate School of Biomedical Sciences, St. Jude Children's Research Hospital, Memphis, TN, 38105, USA.<br /><searchLink fieldCode="AU" term="%22Ghosh+S%22">Ghosh S</searchLink>; Department of Pathology & Laboratory Medicine, Western University, London, ON, N5A 3K7, Canada.<br /><searchLink fieldCode="AU" term="%22Jadhav+B%22">Jadhav B</searchLink>; Department of Genetics and Genomic Sciences and Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA.<br /><searchLink fieldCode="AU" term="%22Mack+T%22">Mack T</searchLink>; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, 98195, USA.<br /><searchLink fieldCode="AU" term="%22Lin+J%22">Lin J</searchLink>; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, 98195, USA.<br /><searchLink fieldCode="AU" term="%22Gibson+SB%22">Gibson SB</searchLink>; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, 98195, USA.; Division of Genetic Medicine, Department of Pediatrics, University of Washington and Seattle Children's Hospital, Seattle, WA, 98195, USA.<br /><searchLink fieldCode="AU" term="%22van+Hagen+JM%22">van Hagen JM</searchLink>; Department of Human Genetics, Amsterdam UMC Location Vrije Universiteit Amsterdam, Amsterdam, Netherlands.<br /><searchLink fieldCode="AU" term="%22Alders+M%22">Alders M</searchLink>; Department of Human Genetics, Amsterdam Reproduction and Development Research Institute, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, Amsterdam, 1105 AZ, Netherlands.<br /><searchLink fieldCode="AU" term="%22Martin-Geary+A%22">Martin-Geary A</searchLink>; Big Data Institute, University of Oxford, Oxford, UK.; Centre for Human Genetics, University of Oxford, Oxford, UK.<br /><searchLink fieldCode="AU" term="%22Gu+B%22">Gu B</searchLink>; Department of Quantitative and Computational Biology, University of Southern California, Los Angeles, CA, 90089, USA.<br /><searchLink fieldCode="AU" term="%22Kharbanda+M%22">Kharbanda M</searchLink>; University Hospital Southampton NHS Foundation Trust, Southampton, UK.<br /><searchLink fieldCode="AU" term="%22Banka+S%22">Banka S</searchLink>; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.; Manchester Centre for Genomic Medicine, St. Mary's Hospital, Health Innovation Manchester, Manchester, UK.<br /><searchLink fieldCode="AU" term="%22Stuart+HM%22">Stuart HM</searchLink>; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, UK.; Division of Evolution, Infection and Genomics, Faculty of Biology, Medicine, and Human Sciences, University of Manchester, Manchester, UK.<br /><searchLink fieldCode="AU" term="%22Webster+AR%22">Webster AR</searchLink>; Institute of Ophthalmology, University College London, 11-43 Bath Street, London, UK.; Genetics, Moorfields Eye Hospital NHS Foundation Trust, 162 City Road, London, EC1V 2PD, UK.<br /><searchLink fieldCode="AU" term="%22Hosokawa+A%22">Hosokawa A</searchLink>; Department of Paediatrics and Child Health, University of Otago, Wellington, 6242, New Zealand.<br /><searchLink fieldCode="AU" term="%22Dashnow+H%22">Dashnow H</searchLink>; Department of Biomedical Informatics, School of Medicine, University of Colorado Anschutz, Aurora, CO, USA.; Department of Human Genetics, University of Utah, Salt Lake City, UT, USA.<br /><searchLink fieldCode="AU" term="%22Bajpai+R%22">Bajpai R</searchLink>; Center for Advanced Genome Engineering, Department of Cell and Molecular Biology, St. Jude Children's Research Hospital, Memphis, TN, 38105, USA.<br /><searchLink fieldCode="AU" term="%22Pruett-Miller+SM%22">Pruett-Miller SM</searchLink>; Center for Advanced Genome Engineering, Department of Cell and Molecular Biology, St. Jude Children's Research Hospital, Memphis, TN, 38105, USA.<br /><searchLink fieldCode="AU" term="%22Chaisson+MJP%22">Chaisson MJP</searchLink>; Department of Quantitative and Computational Biology, University of Southern California, Los Angeles, CA, 90089, USA.<br /><searchLink fieldCode="AU" term="%22Miller+DE%22">Miller DE</searchLink>; Division of Genetic Medicine, Department of Pediatrics, University of Washington and Seattle Children's Hospital, Seattle, WA, 98195, USA.; Department of Laboratory Medicine and Pathology, University of Washington, Seattle, WA, 98195, USA.; Brotman Baty Institute for Precision Medicine, University of Washington, Seattle, WA, 98195, USA.<br /><searchLink fieldCode="AU" term="%22Whiffin+N%22">Whiffin N</searchLink>; Big Data Institute, University of Oxford, Oxford, UK.; Centre for Human Genetics, University of Oxford, Oxford, UK.; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.<br /><searchLink fieldCode="AU" term="%22Eichler+EE%22">Eichler EE</searchLink>; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, 98195, USA.; 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