Phenotypic Variability and Paternal Inheritance of a <i>CHD8</i> Variant Causing Intellectual Developmental Disorder With Autism and Macrocephaly Confirmed by Epigenetic and Structural Analyses
Year: 2025
Type: article
Language: en
Topic: Genomics and Rare Diseases
Authors and affiliations:
raw_author_name: Yutaka Furuta
raw_affiliation_strings: Division of Medical Genetics and Genomic Medicine, Department of Pediatrics Vanderbilt University Medical Center  Nashville Tennessee USA
Division of Medical Genetics and Genomic Medicine, Department of Pediatrics, Vanderbilt University Medical Center, Nashville, Tennessee, USA
raw_author_name: Kimberly M. Ezell
raw_affiliation_strings: Division of Medical Genetics and Genomic Medicine, Department of Pediatrics Vanderbilt University Medical Center  Nashville Tennessee USA
Division of Medical Genetics and Genomic Medicine, Department of Pediatrics, Vanderbilt University Medical Center, Nashville, Tennessee, USA
raw_author_name: Rizwan Hamid
raw_affiliation_strings: Division of Medical Genetics and Genomic Medicine, Department of Pediatrics Vanderbilt University Medical Center  Nashville Tennessee USA
Division of Medical Genetics and Genomic Medicine, Department of Pediatrics, Vanderbilt University Medical Center, Nashville, Tennessee, USA
raw_author_name: Joy D. Cogan
raw_affiliation_strings: Division of Medical Genetics and Genomic Medicine, Department of Pediatrics Vanderbilt University Medical Center  Nashville Tennessee USA
Division of Medical Genetics and Genomic Medicine, Department of Pediatrics, Vanderbilt University Medical Center, Nashville, Tennessee, USA
raw_author_name: Thomas A. Cassini
raw_affiliation_strings: Division of Medical Genetics and Genomic Medicine, Department of Pediatrics Vanderbilt University Medical Center  Nashville Tennessee USA
Division of Medical Genetics and Genomic Medicine, Department of Pediatrics, Vanderbilt University Medical Center, Nashville, Tennessee, USA
raw_author_name: Lynette Rives
raw_affiliation_strings: Division of Medical Genetics and Genomic Medicine, Department of Pediatrics Vanderbilt University Medical Center  Nashville Tennessee USA
Division of Medical Genetics and Genomic Medicine, Department of Pediatrics, Vanderbilt University Medical Center, Nashville, Tennessee, USA
raw_author_name: Ashley McMinn
raw_affiliation_strings: Division of Medical Genetics and Genomic Medicine, Department of Pediatrics Vanderbilt University Medical Center  Nashville Tennessee USA
Division of Medical Genetics and Genomic Medicine, Department of Pediatrics, Vanderbilt University Medical Center, Nashville, Tennessee, USA
raw_author_name: Shailee Shah
raw_affiliation_strings: Department of Neurology Vanderbilt University Medical Center  Nashville Tennessee USA
Department of Neurology, Vanderbilt University Medical Center, Nashville, Tennessee, USA
raw_author_name: Amanda C. Peltier
raw_affiliation_strings: Department of Neurology Vanderbilt University Medical Center  Nashville Tennessee USA
Department of Neurology, Vanderbilt University Medical Center, Nashville, Tennessee, USA
raw_author_name: Stephen Layfield
raw_affiliation_strings: Department of Neurology Vanderbilt University Medical Center  Nashville Tennessee USA
Department of Neurology, Vanderbilt University Medical Center, Nashville, Tennessee, USA
raw_author_name: Robin S. Fletcher
raw_affiliation_strings: Greenwood Genetic Center  Greenwood South Carolina USA
Greenwood Genetic Center, Greenwood, South Carolina, USA
raw_author_name: Matthew L. Tedder
raw_affiliation_strings: Greenwood Genetic Center  Greenwood South Carolina USA
Greenwood Genetic Center, Greenwood, South Carolina, USA
raw_author_name: Raymond J. Louie
raw_affiliation_strings: Greenwood Genetic Center  Greenwood South Carolina USA
Greenwood Genetic Center, Greenwood, South Carolina, USA
raw_author_name: Jennifer A. Lee
raw_affiliation_strings: Greenwood Genetic Center  Greenwood South Carolina USA
Greenwood Genetic Center, Greenwood, South Carolina, USA
raw_author_name: Jennifer Kerkhof
raw_affiliation_strings: Molecular Genetics Laboratory, Division of Molecular Diagnostics London Health Sciences  London Canada
Molecular Genetics Laboratory, Division of Molecular Diagnostics, London Health Sciences, London, Canada
raw_author_name: Jessica Rzasa
raw_affiliation_strings: Molecular Genetics Laboratory, Division of Molecular Diagnostics London Health Sciences  London Canada
Molecular Genetics Laboratory, Division of Molecular Diagnostics, London Health Sciences, London, Canada
raw_author_name: Bekim Sadikovic
raw_affiliation_strings: Molecular Genetics Laboratory, Division of Molecular Diagnostics London Health Sciences  London Canada
Molecular Genetics Laboratory, Division of Molecular Diagnostics, London Health Sciences, London, Canada
raw_author_name: Abdullah Al Mamun
raw_affiliation_strings: Department of Biomedical Data Science Meharry School of Applied Computational Sciences  Nashville Tennessee USA
Department of Biomedical Data Science, Meharry School of Applied Computational Sciences, Nashville, Tennessee, USA
raw_author_name: Jonathan H. Sheehan
raw_affiliation_strings: Division of Infectious Diseases, Department of Internal Medicine Washington University School of Medicine  St. Louis Missouri USA
Division of Infectious Diseases, Department of Internal Medicine, Washington University School of Medicine, St. Louis, Missouri, USA
raw_author_name: Christopher W. Moth
raw_affiliation_strings: Department of Chemistry, Pharmacology, and Biomedical Informatics Center for Structural Biology and Institute of Chemical Biology, Vanderbilt University  Nashville Tennessee USA
Department of Chemistry, Pharmacology, and Biomedical Informatics, Center for Structural Biology and Institute of Chemical Biology, Vanderbilt University, Nashville, Tennessee, USA
raw_author_name: Jens Meiler
raw_affiliation_strings: Department of Chemistry, Pharmacology, and Biomedical Informatics Center for Structural Biology and Institute of Chemical Biology, Vanderbilt University  Nashville Tennessee USA
Department of Chemistry, Pharmacology, and Biomedical Informatics, Center for Structural Biology and Institute of Chemical Biology, Vanderbilt University, Nashville, Tennessee, USA
raw_author_name: Marissa Vawter‐Lee
raw_affiliation_strings: Department of Pediatrics University of Cincinnati College of Medicine  Cincinnati Ohio USA
Division of Neurology Cincinnati Children's Hospital Medical Center  Cincinnati Ohio USA
Division of Neurology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA
Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA
raw_author_name: Paola Maria Mendoza‐Sengco
raw_affiliation_strings: Department of Pediatrics University of Cincinnati College of Medicine  Cincinnati Ohio USA
Division of Pediatric Rehabilitation Medicine Cincinnati Children's Hospital Medical Center  Cincinnati Ohio USA
Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA
Division of Pediatric Rehabilitation Medicine, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA
raw_author_name: Jennifer B. Holzen
raw_affiliation_strings: Tennessee Pediatrics  Hendersonville Tennessee USA
Tennessee Pediatrics, Hendersonville, Tennessee, USA
raw_author_name: Sumit Pruthi
raw_affiliation_strings: Department of Radiology Vanderbilt University Medical Center  Nashville Tennessee USA
Department of Radiology, Vanderbilt University Medical Center, Nashville, Tennessee, USA
raw_author_name: John A. Phillips
raw_affiliation_strings: Division of Medical Genetics and Genomic Medicine, Department of Pediatrics Vanderbilt University Medical Center  Nashville Tennessee USA
Division of Medical Genetics and Genomic Medicine, Department of Pediatrics, Vanderbilt University Medical Center, Nashville, Tennessee, USA
raw_author_name: Rory J. Tinker
raw_affiliation_strings: Department of Medical Genetics and Genomics Icahn School of Medicine at Mount Sinai  New York New York USA
Department of Medical Genetics and Genomics, Icahn School of Medicine at Mount Sinai, New York, New York, USA
raw_author_name: the Undiagnosed Diseases Network