Further Delineation of the AUTS2 HX Repeat Domain-Related Phenotype.
Saved in:
| 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 |
|
Full text is not displayed to guests.
Login for full access.
|
|
| ISSN: | 1552-4833 |
|---|---|
| DOI: | 10.1002/ajmg.a.64093 |
