Phenotypic Variability and Paternal Inheritance of a CHD8 Variant Causing Intellectual Developmental Disorder With Autism and Macrocephaly Confirmed by Epigenetic and Structural Analyses.
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| Title: | Phenotypic Variability and Paternal Inheritance of a CHD8 Variant Causing Intellectual Developmental Disorder With Autism and Macrocephaly Confirmed by Epigenetic and Structural Analyses. |
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| Authors: | Furuta, Yutaka1 (AUTHOR) yutaka.furuta@vumc.org, Ezell, Kimberly M.1 (AUTHOR), Hamid, Rizwan1 (AUTHOR), Cogan, Joy D.1 (AUTHOR), Cassini, Thomas A.1 (AUTHOR), Rives, Lynette1 (AUTHOR), McMinn, Ashley1 (AUTHOR), Shah, Shailee2 (AUTHOR), Peltier, Amanda C.2 (AUTHOR), Layfield, Stephen2 (AUTHOR), Fletcher, Robin S.3 (AUTHOR), Tedder, Matthew L.3 (AUTHOR), Louie, Raymond J.3 (AUTHOR), Lee, Jennifer A.3 (AUTHOR), Kerkhof, Jennifer4 (AUTHOR), Rzasa, Jessica4 (AUTHOR), Sadikovic, Bekim4 (AUTHOR), Al Mamun, Abdullah5 (AUTHOR), Sheehan, Jonathan H.6 (AUTHOR), Moth, Christopher W.7 (AUTHOR) |
| Source: | Molecular Genetics & Genomic Medicine. Dec2025, Vol. 13 Issue 12, p1-8. 8p. |
| Database: | Academic Search Ultimate |
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| Header | DbId: asn DbLabel: Academic Search Ultimate An: 190473314 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=asn&AN=190473314 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1002/mgg3.70165 Languages: – Code: eng Text: English PhysicalDescription: Pagination: PageCount: 8 StartPage: 1 Titles: – TitleFull: Phenotypic Variability and Paternal Inheritance of a CHD8 Variant Causing Intellectual Developmental Disorder With Autism and Macrocephaly Confirmed by Epigenetic and Structural Analyses. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Furuta, Yutaka – PersonEntity: Name: NameFull: Ezell, Kimberly M. – PersonEntity: Name: NameFull: Hamid, Rizwan – PersonEntity: Name: NameFull: Cogan, Joy D. – PersonEntity: Name: NameFull: Cassini, Thomas A. – PersonEntity: Name: NameFull: Rives, Lynette – PersonEntity: Name: NameFull: McMinn, Ashley – PersonEntity: Name: NameFull: Shah, Shailee – PersonEntity: Name: NameFull: Peltier, Amanda C. – PersonEntity: Name: NameFull: Layfield, Stephen – PersonEntity: Name: NameFull: Fletcher, Robin S. – PersonEntity: Name: NameFull: Tedder, Matthew L. – PersonEntity: Name: NameFull: Louie, Raymond J. – PersonEntity: Name: NameFull: Lee, Jennifer A. – PersonEntity: Name: NameFull: Kerkhof, Jennifer – PersonEntity: Name: NameFull: Rzasa, Jessica – PersonEntity: Name: NameFull: Sadikovic, Bekim – PersonEntity: Name: NameFull: Al Mamun, Abdullah – PersonEntity: Name: NameFull: Sheehan, Jonathan H. – PersonEntity: Name: NameFull: Moth, Christopher W. IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 12 Text: Dec2025 Type: published Y: 2025 Identifiers: – Type: issn-print Value: 23249269 Numbering: – Type: volume Value: 13 – Type: issue Value: 12 Titles: – TitleFull: Molecular Genetics & Genomic Medicine Type: main |
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