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Biallelic inactivating variants in the chromatin remodeler DMAP1 cause a syndromic neurodevelopmental disorder.

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Title: Biallelic inactivating variants in the chromatin remodeler DMAP1 cause a syndromic neurodevelopmental disorder.
Authors: Wang Q; Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, United States of America., Sobering AK; Department of Basic Sciences, Augusta University/University of Georgia Medical Partnership, Athens, United States of America., Tirrito C; Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, United States of America., Haghshenas S; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Canada., Hjortshøj TD; Department of Clinical Genetics, University Hospital of Copenhagen, Copenhagen, Denmark., Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Redler S; Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine- University Düsseldorf, Düsseldorf, Germany., March ME; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, United States of America., Matsuoka LS; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, United States of America., Xi H; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, United States of America., Zoodsma J; Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, United States of America., Chen Y; Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, United States of America., Mori M; Emory University School of Medicine, Atlanta, United States of America., Leung ML; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, United States of America., Couque N; Genetics Department, APHP-Robert Debré University Hospital, Paris, France., Verloes A; Genetics Department, APHP-Robert Debré University Hospital, Paris, France., Pouzet A; Genetics Department, APHP-Robert Debré University Hospital, Paris, France., Giesbertz NA; Department of Genetics, Netherlands Cancer Institute, Amsterdam, Netherlands., Simon ME; Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands., Yearwood AK; Department of Radiology, University of California Los Angeles, Los Angeles, United States of America., Assing DL; Department of Biochemistry, St. George's University School of Medicine, St. George's, Grenada., Hsieh TC; Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich- Wilhelms-Universität Bonn, Bonn, Germany., Li JM; Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich- Wilhelms-Universität Bonn, Bonn, Germany., Levy MA; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Canada., Kerkhof J; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Canada., McConkey H; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Canada., Rzasa J; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Canada., Lauzon-Young C; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Canada., Sulaiman RA; Department of Medical Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Abdulwahab F; Department of Medical Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Shamseldin HE; Department of Medical Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Almontashiri NA; College of Applied Medical Sciences and Center for Genetics and Inherited Diseases, Taibah University, Madinah, Saudi Arabia., Afqi M; Unit of Genetic Diseases, Department of Pediatrics, Maternity and Children's Hospital, Almadinah Almunwarah, Saudi Arabia., Vedanarayanan V; The University of Texas at Austin Dell Medical School, Austin, United States of America., Guillen Sacoto MJ; GeneDx Inc., Gaithersburg, United States of America., Wentzensen IM; GeneDx Inc., Gaithersburg, United States of America., Damseh NS; Department of Pediatrics & Genetics, Makassed Hospital & Al-Quds Medical School, E. Jerusalem, Palestinian Territories., Birnbaum R; Department of Genetics, Hadassah Medical Center, Jerusalem, Israel., van Ommeren B; Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands., Hopman SM; Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands., Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt., Elmakkawy G; Human Genetics Department, Medical Research institute, Alexandria University, Alexandria, Egypt., Afzal E; Department of Development Pediatrics, The Children's Hospital and The Institute of Child Health, Multan, Pakistan., Kim J; 3billion Inc., Seoul, Korea, Republic of., Efthymiou S; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom., Houlden H; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom., Nusrat A; Aero Hospital, Wah Cantt, Pakistan., Toft M; Department of Neurology, Oslo University Hospital, Oslo, Norway., Abdullah U; University Institute of Biochemistry and Biotechnology, Pir Mehr Ali Shah Arid Agriculture University, Rawalpindi, Pakistan., Iqbal Z; Department of Neurology, Oslo University Hospital, Oslo, Norway., Terek S; Ambry Genetics, Aliso Viejo, United States of America., Alkuraya FS; Department of Medical Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Bhoj EJ; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, United States of America., Maroofian R; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom., Sadikovic B; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Canada., Hakonarson H; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, United States of America., Song Y; Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, United States of America., Li D; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, United States of America.
Source: The Journal of clinical investigation [J Clin Invest] 2026 Jun 11. Date of Electronic Publication: 2026 Jun 11.
Publication Type: Journal Article
Journal Info: Publisher: American Society for Clinical Investigation Country of Publication: United States NLM ID: 7802877 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1558-8238 (Electronic) Linking ISSN: 00219738 NLM ISO Abbreviation: J Clin Invest Subsets: MEDLINE
Database: MEDLINE Ultimate
FullText Text:
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PubType: Academic Journal
PubTypeId: academicJournal
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  Data: Biallelic inactivating variants in the chromatin remodeler DMAP1 cause a syndromic neurodevelopmental disorder.
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              Y: 2026
          Identifiers:
            – Type: issn-electronic
              Value: 1558-8238
          Titles:
            – TitleFull: The Journal of clinical investigation
              Type: main
ResultId 1