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.
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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  Data: 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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              Text: Dec2025
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