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De novo and inherited variants in DDX39B cause a novel neurodevelopmental syndrome.

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Title: De novo and inherited variants in DDX39B cause a novel neurodevelopmental syndrome.
Authors: Booth KTA; Indiana University School of Medicine, Department of Medical and Molecular Genetics, Undiagnosed Rare Disease Clinic, Indianapolis, IN 46202, USA.; Indiana University School of Medicine, Department of Medical and Molecular Genetics, Indianapolis, IN 46202, USA.; Department of Otolaryngology-Head and Neck Surgery, Indiana University School of Medicine, Indianapolis, IN 46202, USA., Jangam SV; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Center for Precision Medicine Modeling, Baylor College of Medicine, Houston, TX 77030, USA.; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA., Chui MMC; Department of Paediatrics and Adolescent Medicine, School of Clinical Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong 999077, China., Treat K; Indiana University School of Medicine, Department of Medical and Molecular Genetics, Undiagnosed Rare Disease Clinic, Indianapolis, IN 46202, USA.; Indiana University School of Medicine, Department of Medical and Molecular Genetics, Indianapolis, IN 46202, USA., Graziani L; Scuola Internazionale Superiore di Studi Avanzati, Trieste 34136, Italy., Soldano A; Scuola Internazionale Superiore di Studi Avanzati, Trieste 34136, Italy., Ruan Y; Department of Medicine, School of Clinical Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong 999077, China., Wan-Hei Hui J; Department of Medicine, School of Clinical Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong 999077, China., White K; Indiana University School of Medicine, Department of Medical and Molecular Genetics, Indianapolis, IN 46202, USA., Christensen CK; Children's Health Ireland, Dublin D12 N512, Republic of Ireland., Lynnes T; Indiana University School of Medicine, Department of Medical and Molecular Genetics, Indianapolis, IN 46202, USA., Yamamoto S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Center for Precision Medicine Modeling, Baylor College of Medicine, Houston, TX 77030, USA.; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA., Kanca O; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Center for Precision Medicine Modeling, Baylor College of Medicine, Houston, TX 77030, USA.; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA., Tsang MHY; Department of Paediatrics and Adolescent Medicine, School of Clinical Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong 999077, China., Lynch SA; Children's Health Ireland, Dublin D12 N512, Republic of Ireland., Mullegama SV; GeneDx, Gaithersburg 20877, MD, USA., Baptista J; University of Plymouth, Plymouth PL4 8AA, UK., Iancu D; University College of London, London WC1E 6BT, UK., Joss SK; West of Scotland Centre for Genomic Medicine, Queen Elizabeth University Hospital, Glasgow G2 3DH, UK., Wong SYY; Department of Paediatrics and Adolescent Medicine, School of Clinical Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong 999077, China., Mak CCY; Department of Paediatrics and Adolescent Medicine, School of Clinical Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong 999077, China., Kwong AKY; Department of Paediatrics and Adolescent Medicine, School of Clinical Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong 999077, China., Bellen HJ; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Center for Precision Medicine Modeling, Baylor College of Medicine, Houston, TX 77030, USA.; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA., Conboy E; Indiana University School of Medicine, Department of Medical and Molecular Genetics, Undiagnosed Rare Disease Clinic, Indianapolis, IN 46202, USA.; Indiana University School of Medicine, Department of Medical and Molecular Genetics, Indianapolis, IN 46202, USA., Sanges R; Scuola Internazionale Superiore di Studi Avanzati, Trieste 34136, Italy., Leung AY; Department of Medicine, School of Clinical Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong 999077, China., Wangler MF; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Center for Precision Medicine Modeling, Baylor College of Medicine, Houston, TX 77030, USA.; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA., Chung BHY; Department of Paediatrics and Adolescent Medicine, School of Clinical Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong 999077, China.; Department of Pediatrics and Adolescent Medicine, Hong Kong Children's Hospital, Hong Kong 999077, China., Vetrini F; Indiana University School of Medicine, Department of Medical and Molecular Genetics, Undiagnosed Rare Disease Clinic, Indianapolis, IN 46202, USA.; Indiana University School of Medicine, Department of Medical and Molecular Genetics, Indianapolis, IN 46202, USA.
Source: Brain : a journal of neurology [Brain] 2025 Aug 01; Vol. 148 (8), pp. 2658-2670.
Publication Type: Journal Article
Journal Info: Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: De novo and inherited variants in DDX39B cause a novel neurodevelopmental syndrome.
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  Data: <searchLink fieldCode="AU" term="%22Booth+KTA%22">Booth KTA</searchLink>; Indiana University School of Medicine, Department of Medical and Molecular Genetics, Undiagnosed Rare Disease Clinic, Indianapolis, IN 46202, USA.; Indiana University School of Medicine, Department of Medical and Molecular Genetics, Indianapolis, IN 46202, USA.; Department of Otolaryngology-Head and Neck Surgery, Indiana University School of Medicine, Indianapolis, IN 46202, USA.<br /><searchLink fieldCode="AU" term="%22Jangam+SV%22">Jangam SV</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Center for Precision Medicine Modeling, Baylor College of Medicine, Houston, TX 77030, USA.; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA.<br /><searchLink fieldCode="AU" term="%22Chui+MMC%22">Chui MMC</searchLink>; Department of Paediatrics and Adolescent Medicine, School of Clinical Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong 999077, China.<br /><searchLink fieldCode="AU" term="%22Treat+K%22">Treat K</searchLink>; Indiana University School of Medicine, Department of Medical and Molecular Genetics, Undiagnosed Rare Disease Clinic, Indianapolis, IN 46202, USA.; Indiana University School of Medicine, Department of Medical and Molecular Genetics, Indianapolis, IN 46202, USA.<br /><searchLink fieldCode="AU" term="%22Graziani+L%22">Graziani L</searchLink>; Scuola Internazionale Superiore di Studi Avanzati, Trieste 34136, Italy.<br /><searchLink fieldCode="AU" term="%22Soldano+A%22">Soldano A</searchLink>; Scuola Internazionale Superiore di Studi Avanzati, Trieste 34136, Italy.<br /><searchLink fieldCode="AU" term="%22Ruan+Y%22">Ruan Y</searchLink>; Department of Medicine, School of Clinical Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong 999077, China.<br /><searchLink fieldCode="AU" term="%22Wan-Hei+Hui+J%22">Wan-Hei Hui J</searchLink>; Department of Medicine, School of Clinical Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong 999077, China.<br /><searchLink fieldCode="AU" term="%22White+K%22">White K</searchLink>; Indiana University School of Medicine, Department of Medical and Molecular Genetics, Indianapolis, IN 46202, USA.<br /><searchLink fieldCode="AU" term="%22Christensen+CK%22">Christensen CK</searchLink>; Children's Health Ireland, Dublin D12 N512, Republic of Ireland.<br /><searchLink fieldCode="AU" term="%22Lynnes+T%22">Lynnes T</searchLink>; Indiana University School of Medicine, Department of Medical and Molecular Genetics, Indianapolis, IN 46202, USA.<br /><searchLink fieldCode="AU" term="%22Yamamoto+S%22">Yamamoto S</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Center for Precision Medicine Modeling, Baylor College of Medicine, Houston, TX 77030, USA.; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA.<br /><searchLink fieldCode="AU" term="%22Kanca+O%22">Kanca O</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Center for Precision Medicine Modeling, Baylor College of Medicine, Houston, TX 77030, USA.; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA.<br /><searchLink fieldCode="AU" term="%22Tsang+MHY%22">Tsang MHY</searchLink>; Department of Paediatrics and Adolescent Medicine, School of Clinical Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong 999077, China.<br /><searchLink fieldCode="AU" term="%22Lynch+SA%22">Lynch SA</searchLink>; Children's Health Ireland, Dublin D12 N512, Republic of Ireland.<br /><searchLink fieldCode="AU" term="%22Mullegama+SV%22">Mullegama SV</searchLink>; GeneDx, Gaithersburg 20877, MD, USA.<br /><searchLink fieldCode="AU" term="%22Baptista+J%22">Baptista J</searchLink>; University of Plymouth, Plymouth PL4 8AA, UK.<br /><searchLink fieldCode="AU" term="%22Iancu+D%22">Iancu D</searchLink>; University College of London, London WC1E 6BT, UK.<br /><searchLink fieldCode="AU" term="%22Joss+SK%22">Joss SK</searchLink>; West of Scotland Centre for Genomic Medicine, Queen Elizabeth University Hospital, Glasgow G2 3DH, UK.<br /><searchLink fieldCode="AU" term="%22Wong+SYY%22">Wong SYY</searchLink>; Department of Paediatrics and Adolescent Medicine, School of Clinical Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong 999077, China.<br /><searchLink fieldCode="AU" term="%22Mak+CCY%22">Mak CCY</searchLink>; Department of Paediatrics and Adolescent Medicine, School of Clinical Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong 999077, China.<br /><searchLink fieldCode="AU" term="%22Kwong+AKY%22">Kwong AKY</searchLink>; Department of Paediatrics and Adolescent Medicine, School of Clinical Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong 999077, China.<br /><searchLink fieldCode="AU" term="%22Bellen+HJ%22">Bellen HJ</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Center for Precision Medicine Modeling, Baylor College of Medicine, Houston, TX 77030, USA.; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA.<br /><searchLink fieldCode="AU" term="%22Conboy+E%22">Conboy E</searchLink>; Indiana University School of Medicine, Department of Medical and Molecular Genetics, Undiagnosed Rare Disease Clinic, Indianapolis, IN 46202, USA.; Indiana University School of Medicine, Department of Medical and Molecular Genetics, Indianapolis, IN 46202, USA.<br /><searchLink fieldCode="AU" term="%22Sanges+R%22">Sanges R</searchLink>; Scuola Internazionale Superiore di Studi Avanzati, Trieste 34136, Italy.<br /><searchLink fieldCode="AU" term="%22Leung+AY%22">Leung AY</searchLink>; Department of Medicine, School of Clinical Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong 999077, China.<br /><searchLink fieldCode="AU" term="%22Wangler+MF%22">Wangler MF</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Center for Precision Medicine Modeling, Baylor College of Medicine, Houston, TX 77030, USA.; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA.<br /><searchLink fieldCode="AU" term="%22Chung+BHY%22">Chung BHY</searchLink>; Department of Paediatrics and Adolescent Medicine, School of Clinical Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong 999077, China.; Department of Pediatrics and Adolescent Medicine, Hong Kong Children's Hospital, Hong Kong 999077, China.<br /><searchLink fieldCode="AU" term="%22Vetrini+F%22">Vetrini F</searchLink>; Indiana University School of Medicine, Department of Medical and Molecular Genetics, Undiagnosed Rare Disease Clinic, Indianapolis, IN 46202, USA.; Indiana University School of Medicine, Department of Medical and Molecular Genetics, Indianapolis, IN 46202, USA.
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