A genomic copy number variant analysis implicates the MBD5 and HNRNPUgenes in Chinese children with infantile spasms and expands the clinical spectrum of 2q23.1 deletion

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

A cryptic microdeletion includingMBD5occurring within the breakpoint of a reciprocal translocation between chromosomes 2 and 5 in a patient with developmental delay and obesity

(2013) Minobu Shichiji et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Antisense may make sense of 1q44 deletions, seizures, andHNRNPU

(2013) Martin Poot et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Extended spectrum of MBD5 mutations in neurodevelopmental disorders

(2013) Céline Bonnet et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Disruption of MBD5 contributes to a spectrum of psychopathology and neurodevelopmental abnormalities

(2013) J C Hodge et al.   MOLECULAR PSYCHIATRY

De novo mutations in epileptic encephalopathies

(2013) et al.   NATURE

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

(2013) Gemma L Carvill et al.   NATURE GENETICS

Does epilepsy in multiplex autism pedigrees define a different subgroup in terms of clinical characteristics and genetic risk?

(2013) Claire Amiet et al.   Molecular Autism

Multiple variants aggregate in the neuregulin signaling pathway in a subset of schizophrenia patients

(2013) A Hatzimanolis et al.   Translational Psychiatry

Molecular characterization of 1q44 microdeletion in 11 patients reveals three candidate genes for intellectual disability and seizures

(2012) Gaelle Thierry et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Epi4K: Gene discovery in 4,000 genomes

(2012)   EPILEPSIA

1q21.1 Microduplication expression in adults

(2012) Alessia Dolcetti et al.   GENETICS IN MEDICINE

Neuregulin 3 is associated with attention deficits in schizophrenia and bipolar disorder

(2012) Sandra Meier et al.   INTERNATIONAL JOURNAL OF NEUROPSYCHOPHARMACOLOGY

Infantile Spasms Are Associated With Abnormal Copy Number Variations

(2012) Vijay N. Tiwari et al.   JOURNAL OF CHILD NEUROLOGY

Regulation of DNA-End Resection by hnRNPU-like Proteins Promotes DNA Double-Strand Break Signaling and Repair

(2012) Sophie E. Polo et al.   MOLECULAR CELL

The Essential Role of Mbd5 in the Regulation of Somatic Growth and Glucose Homeostasis in Mice

(2012) Yarui Du et al.   PLoS One

Genome-Wide Copy Number Analysis Uncovers a New HSCR Gene: NRG3

(2012) Clara Sze-Man Tang et al.   PLoS Genetics

Assessment of 2q23.1 Microdeletion Syndrome Implicates MBD5 as a Single Causal Locus of Intellectual Disability, Epilepsy, and Autism Spectrum Disorder

(2011) Michael E. Talkowski et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Does the 1.5 Mb microduplication in chromosome band Xp22.31 have a pathogenetic role? New contribution and a review of the literature

(2011) Flavio Faletra et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Rare copy number variants are an important cause of epileptic encephalopathies

(2011) Heather C. Mefford et al.   ANNALS OF NEUROLOGY

Copy number variants and infantile spasms: evidence for abnormalities in ventral forebrain development and pathways of synaptic function

(2011) Alex R Paciorkowski et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplications

(2011) Pengfei Liu et al.   HUMAN MOLECULAR GENETICS

Genetic and Biologic Classification of Infantile Spasms

(2011) Alex R. Paciorkowski et al.   PEDIATRIC NEUROLOGY

A Map of Copy Number Variations in Chinese Populations

(2011) Haiyi Lou et al.   PLoS One

Rare Deletions at 16p13.11 Predispose to a Diverse Spectrum of Sporadic Epilepsy Syndromes

(2010) Erin L. Heinzen et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Infantile spasms: A U.S. consensus report

(2010) John M. Pellock et al.   EPILEPSIA

Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation and severe speech impairment

(2010) Nicola Brunetti-Pierri et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Discovery of common Asian copy number variants using integrated high-resolution array CGH and massively parallel DNA sequencing

(2010) Hansoo Park et al.   NATURE GENETICS

Clinical Genetic Testing for Patients With Autism Spectrum Disorders

(2010) Y. Shen et al.   PEDIATRICS

Common genetic variation in Neuregulin 3 (NRG3) influences risk for schizophrenia and impacts NRG3 expression in human brain

(2010) W.-T. Kao et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Genetically complex epilepsies, copy number variants and syndrome constellations

(2010) Heather C Mefford et al.   Genome Medicine

The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype

(2009) Bregje WM van Bon et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

A genome-wide survey of copy number variations in Han Chinese residing in Taiwan

(2009) Chien-Hsing Lin et al.   GENOMICS

15q13.3 microdeletions increase risk of idiopathic generalized epilepsy

(2009) Ingo Helbig et al.   NATURE GENETICS

Risk of autism spectrum disorders after infantile spasms: A population-based study nested in a cohort with seizures in the first year of life

(2008) Evald Saemundsen et al.   EPILEPSIA

Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities

(2008) Nicola Brunetti-Pierri et al.   NATURE GENETICS

Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes

(2008) Heather C. Mefford et al.   NEW ENGLAND JOURNAL OF MEDICINE