A novel de novo frameshift variant in the CHD2 gene related to intellectual and developmental disability, seizures and speech problems

Developmental and epileptic encephalopathies: from genetic heterogeneity to phenotypic continuum

(2022) Renzo Guerrini et al.   PHYSIOLOGICAL REVIEWS

CHD2-Related CNS Pathologies

(2021) Marc-Michel Wilson et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Expanding the genetic and phenotypic spectrum of CHD2 ‐related disease: From early neurodevelopmental disorders to adult‐onset epilepsy

(2021) Beatrice De Maria et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Diagnostic yield and clinical utility of whole exome sequencing using an automated variant prioritization system, EVIDENCE

(2020) Go Hun Seo et al.   CLINICAL GENETICS

MFEprimer-3.0: quality control for PCR primers

(2019) Kun Wang et al.   NUCLEIC ACIDS RESEARCH

CHD2 ‐related epilepsy: novel mutations and new phenotypes

(2019) Jiaoyang Chen et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

De novo variants in neurodevelopmental disorders with epilepsy

(2018) Henrike O. Heyne et al.   NATURE GENETICS

Paediatric genomics: diagnosing rare disease in children

(2018) Caroline F. Wright et al.   NATURE REVIEWS GENETICS

Chromatin Remodeling Proteins in Epilepsy: Lessons From CHD2-Associated Epilepsy

(2018) Kay-Marie J. Lamar et al.   Frontiers in Molecular Neuroscience

CHD2variants are a risk factor for photosensitivity in epilepsy

(2015) Elizabeth C. Galizia et al.   BRAIN

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

CHD2 myoclonic encephalopathy is frequently associated with self-induced seizures

(2015) R. H. Thomas et al.   NEUROLOGY

Human CHD2 Is a Chromatin Assembly ATPase Regulated by Its Chromo- and DNA-binding Domains

(2014) Jessica C. Liu et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

De Novo Loss-of-Function Mutations in CHD2 Cause a Fever-Sensitive Myoclonic Epileptic Encephalopathy Sharing Features with Dravet Syndrome

(2013) Arvid Suls et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1

(2013) Gemma L Carvill et al.   NATURE GENETICS

Exploiting sparseness in de novo genome assembly

(2012) Chengxi Ye et al.   BMC BIOINFORMATICS

Deletion of the RMGA and CHD2 genes in a child with epilepsy and mental deficiency

(2011) Leonardo P. Capelli et al.   European Journal of Medical Genetics

Nonsense-mediated mRNA decay (NMD) mechanisms

(2009) Saverio Brogna et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY