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Further Delineation of the AUTS2 HX Repeat Domain-Related Phenotype.

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Title: Further Delineation of the AUTS2 HX Repeat Domain-Related Phenotype.
Authors: Erdogan EN; Norcliffe Foundation Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington, USA., Cheng CV; Norcliffe Foundation Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington, USA., Caraffi SG; Medical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy., Ivanovski I; Medical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy., Piatelli G; Dipartimento Integrato Neuroscienze Mediche e Chirurgiche e Riabilitazione-Continuità Cure; U.O.C. Neurochirurgia, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Errichiello E; Unit of Medical Genetics, Department of Molecular Medicine, University of Pavia, Pavia, Italy and Neurogenetics Research Center, IRCCS Mondino Foundation, Pavia, Italy., Papavasiliou AS; Department of Neurology, IASO Children's Hospital, Athens, Greece., Vasileiou G; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany., Reis A; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany., Prince B; Department of Medical Genetics, University of Calgary, Calgary, Canada., Hickey SE; Division of Genetics and Genomics, Nationwide Children's Hospital, Columbus, Ohio, USA.; Department of Pediatrics, The Ohio State College of Medicine, Columbus, Ohio, USA., Koboldt DC; Department of Pediatrics, The Ohio State College of Medicine, Columbus, Ohio, USA.; Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA., Schneider MC; Carle Physicians Group, Section of Neurology, St. Christopher's Hospital for Children, Urbana, Illinois, USA., Porrmann J; Institute for Clinical Genetics, University Hospital TU Dresden, Dresden, Germany., Di Donato N; Institute for Clinical Genetics, University Hospital TU Dresden, Dresden, Germany., Leis T; Department of Pediatrics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany., Perry MS; Jane and John Justin Institute for Mind Health, Fort Worth, Texas, USA.; Genetic Epilepsy Clinic, Cook Children's Medical Center, Fort Worth, Texas, USA., Humberson J; Genetics, University of Virginia Community Health Pediatric Specialty Care, Charlottesville, Virginia, USA., Rotenberg J; Memorial Hermann Memorial City Medical Center, Houston, Texas, USA., Bakhtiari S; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, Arizona, USA.; Departments of Child Health, Neurology, and Cellular & Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, Arizona, USA., Magee H; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, Arizona, USA.; Departments of Child Health, Neurology, and Cellular & Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, Arizona, USA., Kheradmand S; GeneDx, LLC, Gaithersburg, Maryland, USA., Kruer MC; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, Arizona, USA.; Departments of Child Health, Neurology, and Cellular & Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, Arizona, USA., Swale A; North West Genomic Laboratory Hub (Liverpool), Manchester Centre for Genomic Medicine, Liverpool Women's Hospital, Liverpool, UK., Weber A; Liverpool Women's Hospital, Liverpool, UK., Landes C; Alder hey Children's NHS Foundation Trust, Liverpool, UK., Zuffardi O; Unit of Medical Genetics, Department of Molecular Medicine, University of Pavia, Pavia, Italy and Neurogenetics Research Center, IRCCS Mondino Foundation, Pavia, Italy., Garavelli L; Medical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy., van Haeringen A; Department of Clinical Genetics, Leiden University Medical Center (LUMC), Leiden, the Netherlands., Ruivenkamp CAL; Department of Clinical Genetics, Leiden University Medical Center (LUMC), Leiden, the Netherlands., Pauly M; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany., Au PYB; Department of Medical Genetics, University of Calgary, Calgary, Canada.; Alberta Children's Hospital Research Institute, Calgary, Canada., Dobyns WB; Department of Pediatrics (Genetics), University of Minnesota, Minneapolis, Minnesota, USA., Aldinger KA; Norcliffe Foundation Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington, USA.; Department of Pediatrics, University of Washington, Seattle, Washington, USA.; Department of Neurology, University of Washington, Seattle, Washington, USA.
Source: American journal of medical genetics. Part A [Am J Med Genet A] 2025 Sep; Vol. 197 (9), pp. e64093. Date of Electronic Publication: 2025 May 03.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural
Journal Info: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE
Database: MEDLINE Ultimate
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DbLabel: MEDLINE Ultimate
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PubType: Academic Journal
PubTypeId: academicJournal
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  Data: Further Delineation of the AUTS2 HX Repeat Domain-Related Phenotype.
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  Data: <searchLink fieldCode="AU" term="%22Erdogan+EN%22">Erdogan EN</searchLink>; Norcliffe Foundation Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington, USA.<br /><searchLink fieldCode="AU" term="%22Cheng+CV%22">Cheng CV</searchLink>; Norcliffe Foundation Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington, USA.<br /><searchLink fieldCode="AU" term="%22Caraffi+SG%22">Caraffi SG</searchLink>; Medical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy.<br /><searchLink fieldCode="AU" term="%22Ivanovski+I%22">Ivanovski I</searchLink>; Medical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy.<br /><searchLink fieldCode="AU" term="%22Piatelli+G%22">Piatelli G</searchLink>; Dipartimento Integrato Neuroscienze Mediche e Chirurgiche e Riabilitazione-Continuità Cure; U.O.C. Neurochirurgia, IRCCS Istituto Giannina Gaslini, Genoa, Italy.<br /><searchLink fieldCode="AU" term="%22Errichiello+E%22">Errichiello E</searchLink>; Unit of Medical Genetics, Department of Molecular Medicine, University of Pavia, Pavia, Italy and Neurogenetics Research Center, IRCCS Mondino Foundation, Pavia, Italy.<br /><searchLink fieldCode="AU" term="%22Papavasiliou+AS%22">Papavasiliou AS</searchLink>; Department of Neurology, IASO Children's Hospital, Athens, Greece.<br /><searchLink fieldCode="AU" term="%22Vasileiou+G%22">Vasileiou G</searchLink>; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.<br /><searchLink fieldCode="AU" term="%22Reis+A%22">Reis A</searchLink>; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.<br /><searchLink fieldCode="AU" term="%22Prince+B%22">Prince B</searchLink>; Department of Medical Genetics, University of Calgary, Calgary, Canada.<br /><searchLink fieldCode="AU" term="%22Hickey+SE%22">Hickey SE</searchLink>; Division of Genetics and Genomics, Nationwide Children's Hospital, Columbus, Ohio, USA.; Department of Pediatrics, The Ohio State College of Medicine, Columbus, Ohio, USA.<br /><searchLink fieldCode="AU" term="%22Koboldt+DC%22">Koboldt DC</searchLink>; Department of Pediatrics, The Ohio State College of Medicine, Columbus, Ohio, USA.; Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA.<br /><searchLink fieldCode="AU" term="%22Schneider+MC%22">Schneider MC</searchLink>; Carle Physicians Group, Section of Neurology, St. Christopher's Hospital for Children, Urbana, Illinois, USA.<br /><searchLink fieldCode="AU" term="%22Porrmann+J%22">Porrmann J</searchLink>; Institute for Clinical Genetics, University Hospital TU Dresden, Dresden, Germany.<br /><searchLink fieldCode="AU" term="%22Di+Donato+N%22">Di Donato N</searchLink>; Institute for Clinical Genetics, University Hospital TU Dresden, Dresden, Germany.<br /><searchLink fieldCode="AU" term="%22Leis+T%22">Leis T</searchLink>; Department of Pediatrics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.<br /><searchLink fieldCode="AU" term="%22Perry+MS%22">Perry MS</searchLink>; Jane and John Justin Institute for Mind Health, Fort Worth, Texas, USA.; Genetic Epilepsy Clinic, Cook Children's Medical Center, Fort Worth, Texas, USA.<br /><searchLink fieldCode="AU" term="%22Humberson+J%22">Humberson J</searchLink>; Genetics, University of Virginia Community Health Pediatric Specialty Care, Charlottesville, Virginia, USA.<br /><searchLink fieldCode="AU" term="%22Rotenberg+J%22">Rotenberg J</searchLink>; Memorial Hermann Memorial City Medical Center, Houston, Texas, USA.<br /><searchLink fieldCode="AU" term="%22Bakhtiari+S%22">Bakhtiari S</searchLink>; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, Arizona, USA.; Departments of Child Health, Neurology, and Cellular & Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, Arizona, USA.<br /><searchLink fieldCode="AU" term="%22Magee+H%22">Magee H</searchLink>; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, Arizona, USA.; Departments of Child Health, Neurology, and Cellular & Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, Arizona, USA.<br /><searchLink fieldCode="AU" term="%22Kheradmand+S%22">Kheradmand S</searchLink>; GeneDx, LLC, Gaithersburg, Maryland, USA.<br /><searchLink fieldCode="AU" term="%22Kruer+MC%22">Kruer MC</searchLink>; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, Arizona, USA.; Departments of Child Health, Neurology, and Cellular & Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, Arizona, USA.<br /><searchLink fieldCode="AU" term="%22Swale+A%22">Swale A</searchLink>; North West Genomic Laboratory Hub (Liverpool), Manchester Centre for Genomic Medicine, Liverpool Women's Hospital, Liverpool, UK.<br /><searchLink fieldCode="AU" term="%22Weber+A%22">Weber A</searchLink>; Liverpool Women's Hospital, Liverpool, UK.<br /><searchLink fieldCode="AU" term="%22Landes+C%22">Landes C</searchLink>; Alder hey Children's NHS Foundation Trust, Liverpool, UK.<br /><searchLink fieldCode="AU" term="%22Zuffardi+O%22">Zuffardi O</searchLink>; Unit of Medical Genetics, Department of Molecular Medicine, University of Pavia, Pavia, Italy and Neurogenetics Research Center, IRCCS Mondino Foundation, Pavia, Italy.<br /><searchLink fieldCode="AU" term="%22Garavelli+L%22">Garavelli L</searchLink>; Medical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy.<br /><searchLink fieldCode="AU" term="%22van+Haeringen+A%22">van Haeringen A</searchLink>; Department of Clinical Genetics, Leiden University Medical Center (LUMC), Leiden, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Ruivenkamp+CAL%22">Ruivenkamp CAL</searchLink>; Department of Clinical Genetics, Leiden University Medical Center (LUMC), Leiden, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Pauly+M%22">Pauly M</searchLink>; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.<br /><searchLink fieldCode="AU" term="%22Au+PYB%22">Au PYB</searchLink>; Department of Medical Genetics, University of Calgary, Calgary, Canada.; Alberta Children's Hospital Research Institute, Calgary, Canada.<br /><searchLink fieldCode="AU" term="%22Dobyns+WB%22">Dobyns WB</searchLink>; Department of Pediatrics (Genetics), University of Minnesota, Minneapolis, Minnesota, USA.<br /><searchLink fieldCode="AU" term="%22Aldinger+KA%22">Aldinger KA</searchLink>; Norcliffe Foundation Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington, USA.; Department of Pediatrics, University of Washington, Seattle, Washington, USA.; Department of Neurology, University of Washington, Seattle, Washington, USA.
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  Data: <searchLink fieldCode="JN" term="%22101235741%22">American journal of medical genetics. Part A</searchLink> [Am J Med Genet A] 2025 Sep; Vol. 197 (9), pp. e64093. <i>Date of Electronic Publication: </i>2025 May 03.
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