High frequency of mosaic pathogenic variants in genes causing epilepsy-related neurodevelopmental disorders

PCDH19-related epileptic encephalopathy in a male mosaic for a truncating variant

(2016) Isabelle Thiffault et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

PCDH19-related epilepsy in two mosaic male patients

(2016) Alessandra Terracciano et al.   EPILEPSIA

Detection and Quantification of Mosaic Mutations in Disease Genes by Next-Generation Sequencing

(2016) Lan Qin et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

The Contribution of Mosaic Variants to Autism Spectrum Disorder

(2016) Donald Freed et al.   PLoS Genetics

Post-zygotic Point Mutations Are an Underrecognized Source of De Novo Genomic Variation

(2015) Rocio Acuna-Hidalgo et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Variable clinical expression in patients with mosaicism forKCNQ2mutations

(2015) Mathieu Milh et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Somatic mosaicism of a CDKL5 mutation identified by next-generation sequencing

(2015) Takeshi Kato et al.   BRAIN & DEVELOPMENT

Clinical application of whole-exome sequencing across clinical indications

(2015) Kyle Retterer et al.   GENETICS IN MEDICINE

Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing

(2015) Lisa R. Susswein et al.   GENETICS IN MEDICINE

Amplicon Resequencing Identified Parental Mosaicism for Approximately 10% of “de novo”SCN1AMutations in Children with Dravet Syndrome

(2015) Xiaojing Xu et al.   HUMAN MUTATION

SCN2Aencephalopathy

(2015) Katherine B. Howell et al.   NEUROLOGY

Parental Somatic Mosaicism Is Underrecognized and Influences Recurrence Risk of Genomic Disorders

(2014) Ian M. Campbell et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Parent of Origin, Mosaicism, and Recurrence Risk: Probabilistic Modeling Explains the Broken Symmetry of Transmission Genetics

(2014) Ian M. Campbell et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Complex mosaicCDKL5deletion with two distinct mutant alleles in a 4-year-old girl

(2014) Nadia Boutry-Kryza et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Optimizing the molecular diagnosis ofCDKL5gene-related epileptic encephalopathy in boys

(2014) Davide Mei et al.   EPILEPSIA

Paternal germline mosaicism of a SCN2A mutation results in Ohtahara syndrome in half siblings

(2014) Ayelet Zerem et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Clinical spectrum of early onset epileptic encephalopathies caused byKCNQ2mutation

(2013) Mitsuhiro Kato et al.   EPILEPSIA

A genomic view of mosaicism and human disease

(2013) Leslie G. Biesecker et al.   NATURE REVIEWS GENETICS

Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome

(2013) K. Nakamura et al.   NEUROLOGY

PCDH19-related infantile epileptic encephalopathy: An unusual X-linked inheritance disorder

(2012) Christel Depienne et al.   HUMAN MUTATION

Somatic mosaicism of PCDH19 mutation in a family with low-penetrance EFMR

(2012) A. Terracciano et al.   NEUROGENETICS

Clinical spectrum of SCN2A mutations

(2011) Xiuyu Shi et al.   BRAIN & DEVELOPMENT

Early-onset seizures due to mosaic exonic deletions of CDKL5 in a male and two females

(2011) Magdalena Bartnik et al.   GENETICS IN MEDICINE

Maternal de novo triple mosaicism for two single OCRL nucleotide substitutions (c.1736A>T, c.1736A>G) in a Lowe syndrome family

(2011) Markus Draaken et al.   HUMAN GENETICS

A framework for variation discovery and genotyping using next-generation DNA sequencing data

(2011) Mark A DePristo et al.   NATURE GENETICS

Recurrence risk of epilepsy and mental retardation in females due to parental mosaicism of PCDH19 mutations

(2011) L. M. Dibbens et al.   NEUROLOGY

Somatic mosaicism for a CDKL5 mutation as an epileptic encephalopathy in males

(2010) Julien Masliah-Plachon et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome

(2010) C. Depienne et al.   JOURNAL OF MEDICAL GENETICS

Early-onset seizure variant of Rett syndrome: Definition of the clinical diagnostic criteria

(2009) R. Artuso et al.   BRAIN & DEVELOPMENT

Novel mutations in the CDKL5 gene, predicted effects and associated phenotypes

(2009) S. Russo et al.   NEUROGENETICS

Sporadic Infantile Epileptic Encephalopathy Caused by Mutations in PCDH19 Resembles Dravet Syndrome but Mainly Affects Females

(2009) Christel Depienne et al.   PLoS Genetics

Key clinical features to identify girls with CDKL5 mutations

(2008) Nadia Bahi-Buisson et al.   BRAIN