Structural Variant and Repeat Expansion Findings Identified by Optical Genome Mapping in Complex Autism Spectrum Disorder With Concomitant Neurodevelopmental Disorders.
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| Title: | Structural Variant and Repeat Expansion Findings Identified by Optical Genome Mapping in Complex Autism Spectrum Disorder With Concomitant Neurodevelopmental Disorders. |
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| Authors: | Mutlu MB; Detagen Genetic Diseases Evaluation Center, Kayseri, Türkiye., Öğütlü ÖBG; Department of Medical Genetics, Erzurum Regional Training and Research Hospital, Erzurum, Türkiye, erzurumbeah.gov.tr., Öz Ö; Department of Medical Genetics, Harran University Faculty of Medicine, Şanlıurfa, Türkiye, harran.edu.tr., Duymuş F; Department of Medical Genetics, Uşak University, Faculty of Medicine, Uşak, Türkiye, usak.edu.tr., Seyhan S; Medroyal Genetic Diseases Assessment Center, İstanbul, Türkiye., Tokaç AGB; Department of Internal Medicine, Division of Medical Genetics, İstanbul University, Faculty of Medicine, İstanbul, Türkiye, istanbul.edu.tr., Tezcan E; Department of Child and Adolescent Psychiatry, Selçuk University, Faculty of Medicine, Konya, Türkiye, selcuk.edu.tr., Öğütlü H; Department of Child and Adolescent Psychiatry, University College Dublin, Dublin, Ireland, ucd.ie., Demiryılmaz F; Detagen Genetic Diseases Evaluation Center, Kayseri, Türkiye., Silahtarlıoğlu N; Detagen Genetic Diseases Evaluation Center, Kayseri, Türkiye., Bilgil K; Detagen Genetic Diseases Evaluation Center, Kayseri, Türkiye., Elma S; Detagen Genetic Diseases Evaluation Center, Kayseri, Türkiye., Erdoğan M; Department of Medical Genetics, University of Health Science, Kayseri Faculty of Medicine, Kayseri, Türkiye, sbu.edu.tr., Gümüş H; Department of Pediatrics, Division of Pediatric Neurology, Erciyes University, Faculty of Medicine, Kayseri, Türkiye, erciyes.edu.tr., Kumandaş S; Department of Pediatrics, Division of Pediatric Neurology, Erciyes University, Faculty of Medicine, Kayseri, Türkiye, erciyes.edu.tr., Kılıçaslan F; Department of Child and Adolescent Psychiatry, Harran University, Faculty of Medicine, Şanlıurfa, Türkiye, harran.edu.tr. |
| Source: | Human mutation [Hum Mutat] 2026 Jun 11; Vol. 2026, pp. 3130383. Date of Electronic Publication: 2026 Jun 11 (Print Publication: 2026). |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: eCollection Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 42293335 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Structural Variant and Repeat Expansion Findings Identified by Optical Genome Mapping in Complex Autism Spectrum Disorder With Concomitant Neurodevelopmental Disorders. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Mutlu+MB%22">Mutlu MB</searchLink>; Detagen Genetic Diseases Evaluation Center, Kayseri, Türkiye.<br /><searchLink fieldCode="AU" term="%22Öğütlü+ÖBG%22">Öğütlü ÖBG</searchLink>; Department of Medical Genetics, Erzurum Regional Training and Research Hospital, Erzurum, Türkiye, erzurumbeah.gov.tr.<br /><searchLink fieldCode="AU" term="%22Öz+Ö%22">Öz Ö</searchLink>; Department of Medical Genetics, Harran University Faculty of Medicine, Şanlıurfa, Türkiye, harran.edu.tr.<br /><searchLink fieldCode="AU" term="%22Duymuş+F%22">Duymuş F</searchLink>; Department of Medical Genetics, Uşak University, Faculty of Medicine, Uşak, Türkiye, usak.edu.tr.<br /><searchLink fieldCode="AU" term="%22Seyhan+S%22">Seyhan S</searchLink>; Medroyal Genetic Diseases Assessment Center, İstanbul, Türkiye.<br /><searchLink fieldCode="AU" term="%22Tokaç+AGB%22">Tokaç AGB</searchLink>; Department of Internal Medicine, Division of Medical Genetics, İstanbul University, Faculty of Medicine, İstanbul, Türkiye, istanbul.edu.tr.<br /><searchLink fieldCode="AU" term="%22Tezcan+E%22">Tezcan E</searchLink>; Department of Child and Adolescent Psychiatry, Selçuk University, Faculty of Medicine, Konya, Türkiye, selcuk.edu.tr.<br /><searchLink fieldCode="AU" term="%22Öğütlü+H%22">Öğütlü H</searchLink>; Department of Child and Adolescent Psychiatry, University College Dublin, Dublin, Ireland, ucd.ie.<br /><searchLink fieldCode="AU" term="%22Demiryılmaz+F%22">Demiryılmaz F</searchLink>; Detagen Genetic Diseases Evaluation Center, Kayseri, Türkiye.<br /><searchLink fieldCode="AU" term="%22Silahtarlıoğlu+N%22">Silahtarlıoğlu N</searchLink>; Detagen Genetic Diseases Evaluation Center, Kayseri, Türkiye.<br /><searchLink fieldCode="AU" term="%22Bilgil+K%22">Bilgil K</searchLink>; Detagen Genetic Diseases Evaluation Center, Kayseri, Türkiye.<br /><searchLink fieldCode="AU" term="%22Elma+S%22">Elma S</searchLink>; Detagen Genetic Diseases Evaluation Center, Kayseri, Türkiye.<br /><searchLink fieldCode="AU" term="%22Erdoğan+M%22">Erdoğan M</searchLink>; Department of Medical Genetics, University of Health Science, Kayseri Faculty of Medicine, Kayseri, Türkiye, sbu.edu.tr.<br /><searchLink fieldCode="AU" term="%22Gümüş+H%22">Gümüş H</searchLink>; Department of Pediatrics, Division of Pediatric Neurology, Erciyes University, Faculty of Medicine, Kayseri, Türkiye, erciyes.edu.tr.<br /><searchLink fieldCode="AU" term="%22Kumandaş+S%22">Kumandaş S</searchLink>; Department of Pediatrics, Division of Pediatric Neurology, Erciyes University, Faculty of Medicine, Kayseri, Türkiye, erciyes.edu.tr.<br /><searchLink fieldCode="AU" term="%22Kılıçaslan+F%22">Kılıçaslan F</searchLink>; Department of Child and Adolescent Psychiatry, Harran University, Faculty of Medicine, Şanlıurfa, Türkiye, harran.edu.tr. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%229215429%22">Human mutation</searchLink> [Hum Mutat] 2026 Jun 11; Vol. 2026, pp. 3130383. <i>Date of Electronic Publication: </i>2026 Jun 11 (<i>Print Publication: </i>2026). – Name: TypePub Label: Publication Type Group: TypPub Data: Journal Article – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Wiley-Liss%22">Wiley-Liss </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>9215429 <i>Publication Model: </i>eCollection <i>Cited Medium: </i>Internet <i>ISSN: </i>1098-1004 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2210597794%22">10597794 </searchLink><i>NLM ISO Abbreviation: </i>Hum Mutat <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=42293335 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1155/humu/3130383 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 3130383 Titles: – TitleFull: Structural Variant and Repeat Expansion Findings Identified by Optical Genome Mapping in Complex Autism Spectrum Disorder With Concomitant Neurodevelopmental Disorders. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Mutlu MB – PersonEntity: Name: NameFull: Öğütlü ÖBG – PersonEntity: Name: NameFull: Öz Ö – PersonEntity: Name: NameFull: Duymuş F – PersonEntity: Name: NameFull: Seyhan S – PersonEntity: Name: NameFull: Tokaç AGB – PersonEntity: Name: NameFull: Tezcan E – PersonEntity: Name: NameFull: Öğütlü H – PersonEntity: Name: NameFull: Demiryılmaz F – PersonEntity: Name: NameFull: Silahtarlıoğlu N – PersonEntity: Name: NameFull: Bilgil K – PersonEntity: Name: NameFull: Elma S – PersonEntity: Name: NameFull: Erdoğan M – PersonEntity: Name: NameFull: Gümüş H – PersonEntity: Name: NameFull: Kumandaş S – PersonEntity: Name: NameFull: Kılıçaslan F IsPartOfRelationships: – BibEntity: Dates: – D: 11 M: 06 Text: 2026 Jun 11 Type: published Y: 2026 Identifiers: – Type: issn-electronic Value: 1098-1004 Numbering: – Type: volume Value: 2026 Titles: – TitleFull: Human mutation Type: main |
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