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Rare heterozygous de novo variants in RAPGEF2 are associated with a neurodevelopmental disorder.

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Title: Rare heterozygous de novo variants in RAPGEF2 are associated with a neurodevelopmental disorder.
Authors: Bereshneh AH; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX., Wilson KA; Children's National Medical Center and George Washington University, Washington, DC., Pan X; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX., Hannan SB; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX; Department of Neurology, Baylor College of Medicine, Houston, TX., Cooper MA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX., Diaz J; Children's National Medical Center and George Washington University, Washington, DC., Leon E; Children's National Medical Center and George Washington University, Washington, DC., Moses TM; University of North Carolina School of Medicine, Chapel Hill, NC., Azamian MS; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX., Scott DA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX., Billie Au PY; Alberta Children's Hospital Research Institute, Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada., Appendino JP; Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada; Department of Pediatrics, Alberta Children's Hospital, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada., Scheffer IE; Department of Medicine, University of Melbourne, Austin Health and Department of Pediatrics, Royal Children's Hospital, Melbourne, Australia; Murdoch Children's Research Institute, The Royal Children's Hospital, Parkville, Australia., Kaspi A; Population Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research and Department of Medical Biology, University of Melbourne, Parkville, Australia., Bahlo M; Population Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research and Department of Medical Biology, University of Melbourne, Parkville, Australia., Hildebrand MS; Department of Medicine, University of Melbourne, Austin Health and Department of Pediatrics, Royal Children's Hospital, Melbourne, Australia; Murdoch Children's Research Institute, The Royal Children's Hospital, Parkville, Australia., Morgan AT; Murdoch Children's Research Institute, The Royal Children's Hospital, Parkville, Australia., Ekure E; Department of Pediatrics, University of Lagos, Lagos, Nigeria., Shulman JM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX; Department of Neurology, Baylor College of Medicine, Houston, TX; Department of Neuroscience, Baylor College of Medicine, Houston, TX., Hildebrandt F; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA., Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX., Kruszka P; Division of Pediatric Genetics, University of Virginia, Charlottesville, VA., Vilain E; Institute for Clinical and Translational Science, University of California, Irvine, CA., Yamamoto S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX., Kanca O; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX., Berger S; Children's National Medical Center and George Washington University, Washington, DC. Electronic address: sberger@childrensnational.org., Bellen HJ; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX; Department of Neuroscience, Baylor College of Medicine, Houston, TX. Electronic address: hbellen@bcm.edu.
Corporate Authors: Baylor College of Medicine Center for Precision Medicine Models
Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2026 Apr; Vol. 28 (4), pp. 101685. Date of Electronic Publication: 2026 Jan 16.
Publication Type: Journal Article
Journal Info: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE
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  Data: Rare heterozygous de novo variants in RAPGEF2 are associated with a neurodevelopmental disorder.
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  Data: <searchLink fieldCode="AU" term="%22Bereshneh+AH%22">Bereshneh AH</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX.<br /><searchLink fieldCode="AU" term="%22Wilson+KA%22">Wilson KA</searchLink>; Children's National Medical Center and George Washington University, Washington, DC.<br /><searchLink fieldCode="AU" term="%22Pan+X%22">Pan X</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX.<br /><searchLink fieldCode="AU" term="%22Hannan+SB%22">Hannan SB</searchLink>; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX; Department of Neurology, Baylor College of Medicine, Houston, TX.<br /><searchLink fieldCode="AU" term="%22Cooper+MA%22">Cooper MA</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX.<br /><searchLink fieldCode="AU" term="%22Diaz+J%22">Diaz J</searchLink>; Children's National Medical Center and George Washington University, Washington, DC.<br /><searchLink fieldCode="AU" term="%22Leon+E%22">Leon E</searchLink>; Children's National Medical Center and George Washington University, Washington, DC.<br /><searchLink fieldCode="AU" term="%22Moses+TM%22">Moses TM</searchLink>; University of North Carolina School of Medicine, Chapel Hill, NC.<br /><searchLink fieldCode="AU" term="%22Azamian+MS%22">Azamian MS</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.<br /><searchLink fieldCode="AU" term="%22Scott+DA%22">Scott DA</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.<br /><searchLink fieldCode="AU" term="%22Billie+Au+PY%22">Billie Au PY</searchLink>; Alberta Children's Hospital Research Institute, Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada.<br /><searchLink fieldCode="AU" term="%22Appendino+JP%22">Appendino JP</searchLink>; Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada; Department of Pediatrics, Alberta Children's Hospital, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada.<br /><searchLink fieldCode="AU" term="%22Scheffer+IE%22">Scheffer IE</searchLink>; Department of Medicine, University of Melbourne, Austin Health and Department of Pediatrics, Royal Children's Hospital, Melbourne, Australia; Murdoch Children's Research Institute, The Royal Children's Hospital, Parkville, Australia.<br /><searchLink fieldCode="AU" term="%22Kaspi+A%22">Kaspi A</searchLink>; Population Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research and Department of Medical Biology, University of Melbourne, Parkville, Australia.<br /><searchLink fieldCode="AU" term="%22Bahlo+M%22">Bahlo M</searchLink>; Population Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research and Department of Medical Biology, University of Melbourne, Parkville, Australia.<br /><searchLink fieldCode="AU" term="%22Hildebrand+MS%22">Hildebrand MS</searchLink>; Department of Medicine, University of Melbourne, Austin Health and Department of Pediatrics, Royal Children's Hospital, Melbourne, Australia; Murdoch Children's Research Institute, The Royal Children's Hospital, Parkville, Australia.<br /><searchLink fieldCode="AU" term="%22Morgan+AT%22">Morgan AT</searchLink>; Murdoch Children's Research Institute, The Royal Children's Hospital, Parkville, Australia.<br /><searchLink fieldCode="AU" term="%22Ekure+E%22">Ekure E</searchLink>; Department of Pediatrics, University of Lagos, Lagos, Nigeria.<br /><searchLink fieldCode="AU" term="%22Shulman+JM%22">Shulman JM</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX; Department of Neurology, Baylor College of Medicine, Houston, TX; Department of Neuroscience, Baylor College of Medicine, Houston, TX.<br /><searchLink fieldCode="AU" term="%22Hildebrandt+F%22">Hildebrandt F</searchLink>; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA.<br /><searchLink fieldCode="AU" term="%22Posey+JE%22">Posey JE</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.<br /><searchLink fieldCode="AU" term="%22Kruszka+P%22">Kruszka P</searchLink>; Division of Pediatric Genetics, University of Virginia, Charlottesville, VA.<br /><searchLink fieldCode="AU" term="%22Vilain+E%22">Vilain E</searchLink>; Institute for Clinical and Translational Science, University of California, Irvine, CA.<br /><searchLink fieldCode="AU" term="%22Yamamoto+S%22">Yamamoto S</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX.<br /><searchLink fieldCode="AU" term="%22Kanca+O%22">Kanca O</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX.<br /><searchLink fieldCode="AU" term="%22Berger+S%22">Berger S</searchLink>; Children's National Medical Center and George Washington University, Washington, DC. Electronic address: sberger@childrensnational.org.<br /><searchLink fieldCode="AU" term="%22Bellen+HJ%22">Bellen HJ</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX; Department of Neuroscience, Baylor College of Medicine, Houston, TX. Electronic address: hbellen@bcm.edu.
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  Data: <searchLink fieldCode="JN" term="%229815831%22">Genetics in medicine : official journal of the American College of Medical Genetics</searchLink> [Genet Med] 2026 Apr; Vol. 28 (4), pp. 101685. <i>Date of Electronic Publication: </i>2026 Jan 16.
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