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Cohort Expansion and Genotype-Phenotype Analysis of RAB11A-Associated Neurodevelopmental Disorder.

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Title: Cohort Expansion and Genotype-Phenotype Analysis of RAB11A-Associated Neurodevelopmental Disorder.
Authors: Borroto MC; Centre de recherche Azrieli du CHU Sainte-Justine, Montreal, Québec, Canada., Patel H; Centre de recherche Azrieli du CHU Sainte-Justine, Montreal, Québec, Canada., Srivastava S; Department of Neurology, Translational Neuroscience Center, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts., Swanson LC; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts., Keren B; Département de génétique, APHP-Sorbonne Université, Hôpital de la Pitié-Salpêtrière, Assistance Publique des Hôpitaux de Paris, Paris, France., Whalen S; UF de Génétique Clinique et Centre de Reference Anomalies du Développement et Syndromes Malformatifs, APHP, Sorbonne Université, Hôpital Trousseau, Paris, France., Mignot C; Département de Génétique, Centre de Référence Déficiences Intellectuelles de Causes Rares, Groupe Hospitalier Pitié-Salpêtrière and Hôpital Trousseau, APHP, Sorbonne Université, Paris, France., Wang X; Cipher Gene Ltd., Beijing, China., Chen Q; Children's Hospital, Capital Institute of Pediatrics, Beijing, China., Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas., McLean S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas; Department of Pediatrics, Baylor College of Medicine, San Antonio, Texas., Littlejohn RO; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas; Department of Pediatrics, Baylor College of Medicine, San Antonio, Texas., Emrick L; Section of Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, Texas., Burrage LC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas., Attali R; Genomic Research Department, Emedgene, an Illumina Company, Tel Aviv, Israel., Lesca G; Department of Medical Genetics, Lyon University Hospital, University Claude Bernard Lyon 1, Lyon, France., Acquaviva-Bourdain C; Hospices civils de Lyon, service biochimie et biologie moléculaire, UF maladies héréditaires du métabolisme, Bron, France., Sarret C; CHU Estaing, Pôle Pédiatrie, Service de Génétique, Clermont-Ferrand, France., Seaver LH; Corewell Health Helen DeVos Children's Hospital, Grand Rapids, Michigan; Department of Pediatrics and Human Development, Michigan State University College of Human Medicine, Grand Rapids, Michigan., Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Bartolomaeus T; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Wünsch C; Sozialpädiatrisches Zentrum Leipzig - Frühe Hilfe Leipzig e.V., Leipzig, Germany., Fischer S; Sozialpädiatrisches Zentrum Leipzig - Frühe Hilfe Leipzig e.V., Leipzig, Germany., Rodriguez Barreto AM; Division of Clinical Genetics, Nicklaus Children's Hospital, Miami, Florida., Granadillo JL; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine in St. Louis, St. Louis, Missouri., Schreiner E; Diagnostic and Research Institute of Human Genetics, Medical University of Graz, Graz, Austria., Brunet T; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, Munich, Germany; Department of Pediatric Neurology and Developmental Medicine, Dr. v. Hauner Children's Hospital, LMU - University of Munich, Munich, Germany., Schatz UA; Institute of Human Genetics, Technical University of Munich, Munich, Germany., Thiffault I; Department of Pediatrics, Children's Mercy Kansas City, Kansas City, Missouri; Department of Pathology and Laboratory Medicine, Children's Mercy Kansas City, Kansas City, Missouri., Mullegama SV; GeneDx, Gaithersburg, Maryland., Michaud JL; Centre de recherche Azrieli du CHU Sainte-Justine, Montreal, Québec, Canada; Departments of Pediatrics and Neurosciences, Université de Montréal, Montreal, Québec, Canada., Hamdan FF; Centre de recherche Azrieli du CHU Sainte-Justine, Montreal, Québec, Canada; Department of Pediatrics, University of Montreal, Montreal, Québec, Canada., Rossignol E; Centre de recherche Azrieli du CHU Sainte-Justine, Montreal, Québec, Canada., Campeau PM; Centre de recherche Azrieli du CHU Sainte-Justine, Montreal, Québec, Canada; Department of Pediatrics, University of Montreal, Montreal, Québec, Canada. Electronic address: p.campeau@umontreal.ca.
Corporate Authors: Undiagnosed Diseases Network
Source: Pediatric neurology [Pediatr Neurol] 2024 Nov; Vol. 160, pp. 45-53. Date of Electronic Publication: 2024 Jul 20.
Publication Type: Journal Article
Journal Info: Publisher: Elsevier Science Publishing Country of Publication: United States NLM ID: 8508183 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-5150 (Electronic) Linking ISSN: 08878994 NLM ISO Abbreviation: Pediatr Neurol Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Cohort Expansion and Genotype-Phenotype Analysis of RAB11A-Associated Neurodevelopmental Disorder.
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  Data: <searchLink fieldCode="AU" term="%22Borroto+MC%22">Borroto MC</searchLink>; Centre de recherche Azrieli du CHU Sainte-Justine, Montreal, Québec, Canada.<br /><searchLink fieldCode="AU" term="%22Patel+H%22">Patel H</searchLink>; Centre de recherche Azrieli du CHU Sainte-Justine, Montreal, Québec, Canada.<br /><searchLink fieldCode="AU" term="%22Srivastava+S%22">Srivastava S</searchLink>; Department of Neurology, Translational Neuroscience Center, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.<br /><searchLink fieldCode="AU" term="%22Swanson+LC%22">Swanson LC</searchLink>; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts.<br /><searchLink fieldCode="AU" term="%22Keren+B%22">Keren B</searchLink>; Département de génétique, APHP-Sorbonne Université, Hôpital de la Pitié-Salpêtrière, Assistance Publique des Hôpitaux de Paris, Paris, France.<br /><searchLink fieldCode="AU" term="%22Whalen+S%22">Whalen S</searchLink>; UF de Génétique Clinique et Centre de Reference Anomalies du Développement et Syndromes Malformatifs, APHP, Sorbonne Université, Hôpital Trousseau, Paris, France.<br /><searchLink fieldCode="AU" term="%22Mignot+C%22">Mignot C</searchLink>; Département de Génétique, Centre de Référence Déficiences Intellectuelles de Causes Rares, Groupe Hospitalier Pitié-Salpêtrière and Hôpital Trousseau, APHP, Sorbonne Université, Paris, France.<br /><searchLink fieldCode="AU" term="%22Wang+X%22">Wang X</searchLink>; Cipher Gene Ltd., Beijing, China.<br /><searchLink fieldCode="AU" term="%22Chen+Q%22">Chen Q</searchLink>; Children's Hospital, Capital Institute of Pediatrics, Beijing, China.<br /><searchLink fieldCode="AU" term="%22Rosenfeld+JA%22">Rosenfeld JA</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.<br /><searchLink fieldCode="AU" term="%22McLean+S%22">McLean S</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas; Department of Pediatrics, Baylor College of Medicine, San Antonio, Texas.<br /><searchLink fieldCode="AU" term="%22Littlejohn+RO%22">Littlejohn RO</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas; Department of Pediatrics, Baylor College of Medicine, San Antonio, Texas.<br /><searchLink fieldCode="AU" term="%22Emrick+L%22">Emrick L</searchLink>; Section of Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, Texas.<br /><searchLink fieldCode="AU" term="%22Burrage+LC%22">Burrage LC</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.<br /><searchLink fieldCode="AU" term="%22Attali+R%22">Attali R</searchLink>; Genomic Research Department, Emedgene, an Illumina Company, Tel Aviv, Israel.<br /><searchLink fieldCode="AU" term="%22Lesca+G%22">Lesca G</searchLink>; Department of Medical Genetics, Lyon University Hospital, University Claude Bernard Lyon 1, Lyon, France.<br /><searchLink fieldCode="AU" term="%22Acquaviva-Bourdain+C%22">Acquaviva-Bourdain C</searchLink>; Hospices civils de Lyon, service biochimie et biologie moléculaire, UF maladies héréditaires du métabolisme, Bron, France.<br /><searchLink fieldCode="AU" term="%22Sarret+C%22">Sarret C</searchLink>; CHU Estaing, Pôle Pédiatrie, Service de Génétique, Clermont-Ferrand, France.<br /><searchLink fieldCode="AU" term="%22Seaver+LH%22">Seaver LH</searchLink>; Corewell Health Helen DeVos Children's Hospital, Grand Rapids, Michigan; Department of Pediatrics and Human Development, Michigan State University College of Human Medicine, Grand Rapids, Michigan.<br /><searchLink fieldCode="AU" term="%22Platzer+K%22">Platzer K</searchLink>; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.<br /><searchLink fieldCode="AU" term="%22Bartolomaeus+T%22">Bartolomaeus T</searchLink>; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.<br /><searchLink fieldCode="AU" term="%22Wünsch+C%22">Wünsch C</searchLink>; Sozialpädiatrisches Zentrum Leipzig - Frühe Hilfe Leipzig e.V., Leipzig, Germany.<br /><searchLink fieldCode="AU" term="%22Fischer+S%22">Fischer S</searchLink>; Sozialpädiatrisches Zentrum Leipzig - Frühe Hilfe Leipzig e.V., Leipzig, Germany.<br /><searchLink fieldCode="AU" term="%22Rodriguez+Barreto+AM%22">Rodriguez Barreto AM</searchLink>; Division of Clinical Genetics, Nicklaus Children's Hospital, Miami, Florida.<br /><searchLink fieldCode="AU" term="%22Granadillo+JL%22">Granadillo JL</searchLink>; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine in St. Louis, St. Louis, Missouri.<br /><searchLink fieldCode="AU" term="%22Schreiner+E%22">Schreiner E</searchLink>; Diagnostic and Research Institute of Human Genetics, Medical University of Graz, Graz, Austria.<br /><searchLink fieldCode="AU" term="%22Brunet+T%22">Brunet T</searchLink>; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, Munich, Germany; Department of Pediatric Neurology and Developmental Medicine, Dr. v. Hauner Children's Hospital, LMU - University of Munich, Munich, Germany.<br /><searchLink fieldCode="AU" term="%22Schatz+UA%22">Schatz UA</searchLink>; Institute of Human Genetics, Technical University of Munich, Munich, Germany.<br /><searchLink fieldCode="AU" term="%22Thiffault+I%22">Thiffault I</searchLink>; Department of Pediatrics, Children's Mercy Kansas City, Kansas City, Missouri; Department of Pathology and Laboratory Medicine, Children's Mercy Kansas City, Kansas City, Missouri.<br /><searchLink fieldCode="AU" term="%22Mullegama+SV%22">Mullegama SV</searchLink>; GeneDx, Gaithersburg, Maryland.<br /><searchLink fieldCode="AU" term="%22Michaud+JL%22">Michaud JL</searchLink>; Centre de recherche Azrieli du CHU Sainte-Justine, Montreal, Québec, Canada; Departments of Pediatrics and Neurosciences, Université de Montréal, Montreal, Québec, Canada.<br /><searchLink fieldCode="AU" term="%22Hamdan+FF%22">Hamdan FF</searchLink>; Centre de recherche Azrieli du CHU Sainte-Justine, Montreal, Québec, Canada; Department of Pediatrics, University of Montreal, Montreal, Québec, Canada.<br /><searchLink fieldCode="AU" term="%22Rossignol+E%22">Rossignol E</searchLink>; Centre de recherche Azrieli du CHU Sainte-Justine, Montreal, Québec, Canada.<br /><searchLink fieldCode="AU" term="%22Campeau+PM%22">Campeau PM</searchLink>; Centre de recherche Azrieli du CHU Sainte-Justine, Montreal, Québec, Canada; Department of Pediatrics, University of Montreal, Montreal, Québec, Canada. Electronic address: p.campeau@umontreal.ca.
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