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Burden re-analysis of neurodevelopmental disorder cohorts for prioritization of candidate genes.

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Title: Burden re-analysis of neurodevelopmental disorder cohorts for prioritization of candidate genes.
Authors: Smal N; Applied and Translational Neurogenomics Group, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium.; Applied and Translational Neurogenomics Group, Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium., Majdoub F; Applied and Translational Neurogenomics Group, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium.; Applied and Translational Neurogenomics Group, Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium.; Medical Genetics Department, University Hedi Chaker Hospital of Sfax, University of Sfax, Sfax, Tunisia., Janssens K; Department of Medical Genetics, University of Antwerp, Antwerp, Belgium.; Center of Medical Genetics, University Hospital Antwerp, Drie Eikenstraat 655, Edegem, 2650, Belgium., Reyniers E; Department of Medical Genetics, University of Antwerp, Antwerp, Belgium.; Center of Medical Genetics, University Hospital Antwerp, Drie Eikenstraat 655, Edegem, 2650, Belgium., Meuwissen MEC; Department of Medical Genetics, University of Antwerp, Antwerp, Belgium.; Center of Medical Genetics, University Hospital Antwerp, Drie Eikenstraat 655, Edegem, 2650, Belgium., Ceulemans B; Translational Neurosciences, Faculty of Medicine and Health Science, University of Antwerp, Antwerp, Belgium.; Department of Pediatric Neurology, Antwerp University Hospital, University of Antwerp, Antwerp, Belgium., Northrup H; Department of Pediatrics, McGovern Medical School at the University of Texas Health Science Center at Houston (UTHealth) and Children's Memorial Hermann Hospital, Houston, TX, USA., Hill JB; Department of Pediatrics, McGovern Medical School at the University of Texas Health Science Center at Houston (UTHealth) and Children's Memorial Hermann Hospital, Houston, TX, USA., Liu L; Department of Pediatrics, McGovern Medical School at the University of Texas Health Science Center at Houston (UTHealth) and Children's Memorial Hermann Hospital, Houston, TX, USA., Errichiello E; Department of Molecular Medicine, University of Pavia, Pavia, Italy.; Neurogenetics Research Center, IRCCS Mondino Foundation, Pavia, Italy., Gana S; Neurogenetics Research Center, IRCCS Mondino Foundation, Pavia, Italy., Strong A; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA., Rohena L; Division of Medical Genetics, Department of Pediatrics, San Antonio Military Medical Center, San Antonio, TX, USA.; Department of Pediatrics, Long School of Medicine-UT Health San Antonio, San Antonio, TX, USA., Franciskovich R; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA., Murali CN; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA., Huybrechs A; Department of Pediatrics, Heilig Hart Ziekenhuis, Lier, Belgium., Sulem T; deCODE genetics/Amgen Inc., Reykjavik, Iceland., Fridriksdottir R; deCODE genetics/Amgen Inc., Reykjavik, Iceland., Sulem P; deCODE genetics/Amgen Inc., Reykjavik, Iceland., Stefansson K; deCODE genetics/Amgen Inc., Reykjavik, Iceland., Bai Y; GeneDx, Gaithersburg, MD, USA., Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Lalani SR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA., Streff H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA., Kooy RF; Department of Medical Genetics, University of Antwerp, Antwerp, Belgium., Weckhuysen S; Applied and Translational Neurogenomics Group, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium. sarah.weckhuysen@uantwerpen.vib.be.; Translational Neurosciences, Faculty of Medicine and Health Science, University of Antwerp, Antwerp, Belgium. sarah.weckhuysen@uantwerpen.vib.be.; Department of Neurology, University Hospital Antwerp, Antwerp, Belgium. sarah.weckhuysen@uantwerpen.vib.be.; µNEURO Research Centre of Excellence, University of Antwerp, Antwerp, Belgium. sarah.weckhuysen@uantwerpen.vib.be.
Corporate Authors: Undiagnosed Diseases Network
Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2024 Nov; Vol. 32 (11), pp. 1378-1386. Date of Electronic Publication: 2024 Jul 04.
Publication Type: Journal Article
Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Burden re-analysis of neurodevelopmental disorder cohorts for prioritization of candidate genes.
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  Data: <searchLink fieldCode="AU" term="%22Smal+N%22">Smal N</searchLink>; Applied and Translational Neurogenomics Group, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium.; Applied and Translational Neurogenomics Group, Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium.<br /><searchLink fieldCode="AU" term="%22Majdoub+F%22">Majdoub F</searchLink>; Applied and Translational Neurogenomics Group, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium.; Applied and Translational Neurogenomics Group, Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium.; Medical Genetics Department, University Hedi Chaker Hospital of Sfax, University of Sfax, Sfax, Tunisia.<br /><searchLink fieldCode="AU" term="%22Janssens+K%22">Janssens K</searchLink>; Department of Medical Genetics, University of Antwerp, Antwerp, Belgium.; Center of Medical Genetics, University Hospital Antwerp, Drie Eikenstraat 655, Edegem, 2650, Belgium.<br /><searchLink fieldCode="AU" term="%22Reyniers+E%22">Reyniers E</searchLink>; Department of Medical Genetics, University of Antwerp, Antwerp, Belgium.; Center of Medical Genetics, University Hospital Antwerp, Drie Eikenstraat 655, Edegem, 2650, Belgium.<br /><searchLink fieldCode="AU" term="%22Meuwissen+MEC%22">Meuwissen MEC</searchLink>; Department of Medical Genetics, University of Antwerp, Antwerp, Belgium.; Center of Medical Genetics, University Hospital Antwerp, Drie Eikenstraat 655, Edegem, 2650, Belgium.<br /><searchLink fieldCode="AU" term="%22Ceulemans+B%22">Ceulemans B</searchLink>; Translational Neurosciences, Faculty of Medicine and Health Science, University of Antwerp, Antwerp, Belgium.; Department of Pediatric Neurology, Antwerp University Hospital, University of Antwerp, Antwerp, Belgium.<br /><searchLink fieldCode="AU" term="%22Northrup+H%22">Northrup H</searchLink>; Department of Pediatrics, McGovern Medical School at the University of Texas Health Science Center at Houston (UTHealth) and Children's Memorial Hermann Hospital, Houston, TX, USA.<br /><searchLink fieldCode="AU" term="%22Hill+JB%22">Hill JB</searchLink>; Department of Pediatrics, McGovern Medical School at the University of Texas Health Science Center at Houston (UTHealth) and Children's Memorial Hermann Hospital, Houston, TX, USA.<br /><searchLink fieldCode="AU" term="%22Liu+L%22">Liu L</searchLink>; Department of Pediatrics, McGovern Medical School at the University of Texas Health Science Center at Houston (UTHealth) and Children's Memorial Hermann Hospital, Houston, TX, USA.<br /><searchLink fieldCode="AU" term="%22Errichiello+E%22">Errichiello E</searchLink>; Department of Molecular Medicine, University of Pavia, Pavia, Italy.; Neurogenetics Research Center, IRCCS Mondino Foundation, Pavia, Italy.<br /><searchLink fieldCode="AU" term="%22Gana+S%22">Gana S</searchLink>; Neurogenetics Research Center, IRCCS Mondino Foundation, Pavia, Italy.<br /><searchLink fieldCode="AU" term="%22Strong+A%22">Strong A</searchLink>; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.<br /><searchLink fieldCode="AU" term="%22Rohena+L%22">Rohena L</searchLink>; Division of Medical Genetics, Department of Pediatrics, San Antonio Military Medical Center, San Antonio, TX, USA.; Department of Pediatrics, Long School of Medicine-UT Health San Antonio, San Antonio, TX, USA.<br /><searchLink fieldCode="AU" term="%22Franciskovich+R%22">Franciskovich R</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA.<br /><searchLink fieldCode="AU" term="%22Murali+CN%22">Murali CN</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA.<br /><searchLink fieldCode="AU" term="%22Huybrechs+A%22">Huybrechs A</searchLink>; Department of Pediatrics, Heilig Hart Ziekenhuis, Lier, Belgium.<br /><searchLink fieldCode="AU" term="%22Sulem+T%22">Sulem T</searchLink>; deCODE genetics/Amgen Inc., Reykjavik, Iceland.<br /><searchLink fieldCode="AU" term="%22Fridriksdottir+R%22">Fridriksdottir R</searchLink>; deCODE genetics/Amgen Inc., Reykjavik, Iceland.<br /><searchLink fieldCode="AU" term="%22Sulem+P%22">Sulem P</searchLink>; deCODE genetics/Amgen Inc., Reykjavik, Iceland.<br /><searchLink fieldCode="AU" term="%22Stefansson+K%22">Stefansson K</searchLink>; deCODE genetics/Amgen Inc., Reykjavik, Iceland.<br /><searchLink fieldCode="AU" term="%22Bai+Y%22">Bai Y</searchLink>; GeneDx, Gaithersburg, MD, USA.<br /><searchLink fieldCode="AU" term="%22Rosenfeld+JA%22">Rosenfeld JA</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.<br /><searchLink fieldCode="AU" term="%22Lalani+SR%22">Lalani SR</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA.<br /><searchLink fieldCode="AU" term="%22Streff+H%22">Streff H</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA.<br /><searchLink fieldCode="AU" term="%22Kooy+RF%22">Kooy RF</searchLink>; Department of Medical Genetics, University of Antwerp, Antwerp, Belgium.<br /><searchLink fieldCode="AU" term="%22Weckhuysen+S%22">Weckhuysen S</searchLink>; Applied and Translational Neurogenomics Group, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium. sarah.weckhuysen@uantwerpen.vib.be.; Translational Neurosciences, Faculty of Medicine and Health Science, University of Antwerp, Antwerp, Belgium. sarah.weckhuysen@uantwerpen.vib.be.; Department of Neurology, University Hospital Antwerp, Antwerp, Belgium. sarah.weckhuysen@uantwerpen.vib.be.; µNEURO Research Centre of Excellence, University of Antwerp, Antwerp, Belgium. sarah.weckhuysen@uantwerpen.vib.be.
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