Next Generation Sequencing of 134 Children with Autism Spectrum Disorder and Regression

Autism genetics - an overview

(2016) Jiani Yin et al.   PRENATAL DIAGNOSIS

Exome Sequencing of Familial Bipolar Disorder

(2016) Fernando S. Goes et al.   JAMA Psychiatry

Improvement of regressive autism symptoms in a child withTMLHEdeficiency following carnitine supplementation

(2015) Mark N. Ziats et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Case report: an unexpected link between partial deletion of the SHANK3 gene and Heller’s dementia infantilis, a rare subtype of autism spectrum disorder

(2015) Anne Philippe et al.   BMC Psychiatry

Complex SCN8A DNA-abnormalities in an individual with therapy resistant absence epilepsy

(2015) Bianca Berghuis et al.   EPILEPSY RESEARCH

Molecular characterization of a cohort of 73 patients with infantile spasms syndrome

(2015) Nadia Boutry-Kryza et al.   European Journal of Medical Genetics

Rett-like onset in late-infantile neuronal ceroid lipofuscinosis (CLN7) caused by compound heterozygous mutation in the MFSD8 gene and review of the literature data on clinical onset signs

(2015) Dana Craiu et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

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

Autism Spectrum Disorder and Epilepsy

(2015) Shafali Spurling Jeste et al.   JOURNAL OF CHILD NEUROLOGY

Genetic and phenotypic diversity ofNHE6mutations in Christianson syndrome

(2014) Matthew F. Pescosolido et al.   ANNALS OF NEUROLOGY

Launching genomics into the cloud: deployment of Mercury, a next generation sequence analysis pipeline

(2014) Jeffrey G Reid et al.   BMC BIOINFORMATICS

Severe infantile epileptic encephalopathy due to mutations inPLCB1: expansion of the genotypic and phenotypic disease spectrum

(2014) Adeline Ngoh et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Biological insights from 108 schizophrenia-associated genetic loci

(2014)   NATURE

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

(2014) Christel Depienne et al.   PLoS Genetics

GRIN2A mutations in acquired epileptic aphasia and related childhood focal epilepsies and encephalopathies with speech and language dysfunction

(2013) Gaetan Lesca et al.   NATURE GENETICS

Cerebellar and posterior fossa malformations in patients with autism-associated chromosome 22q13 terminal deletion

(2012) Kimberly A. Aldinger et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

An integrative variant analysis suite for whole exome next-generation sequencing data

(2012) Danny Challis et al.   BMC BIOINFORMATICS

Epileptic encephalopathies of the Landau-Kleffner and continuous spike and waves during slow-wave sleep types: Genomic dissection makes the link with autism

(2012) Gaetan Lesca et al.   EPILEPSIA

2q23.1 microdeletion of the MBD5 gene in a female with seizures, developmental delay and distinct dysmorphic features

(2012) Grace J. Noh et al.   European Journal of Medical Genetics

Plexin-B2 Regulates the Proliferation and Migration of Neuroblasts in the Postnatal and Adult Subventricular Zone

(2012) B. Saha et al.   JOURNAL OF NEUROSCIENCE

Patterns and rates of exonic de novo mutations in autism spectrum disorders

(2012) Benjamin M. Neale et al.   NATURE

De novo mutations revealed by whole-exome sequencing are strongly associated with autism

(2012) Stephan J. Sanders et al.   NATURE

Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations

(2012) Brian J. O’Roak et al.   NATURE

Methylenetetrahydrofolate reductase (MTHFR) deficiency and infantile epilepsy

(2011) Asuri N. Prasad et al.   BRAIN & DEVELOPMENT

A boy with a severe phenotype of succinic semialdehyde dehydrogenase deficiency

(2011) Yoko Yamakawa et al.   BRAIN & DEVELOPMENT

Oligogenic heterozygosity in individuals with high-functioning autism spectrum disorders

(2011) C. P. Schaaf et al.   HUMAN MOLECULAR GENETICS

De novo SCN1A mutations in migrating partial seizures of infancy

(2011) D. Carranza Rojo et al.   NEUROLOGY

Mechanisms of developmental regression in autism and the broader phenotype: A neural network modeling approach.

(2011) Michael S. C. Thomas et al.   PSYCHOLOGICAL REVIEW

Role of UBE3A and ATP10A genes in autism susceptibility region 15q11-q13 in an Italian population: A positive replication for UBE3A

(2010) Guia Guffanti et al.   PSYCHIATRY RESEARCH

The Mutation p.Ser298Pro in the sulphamidase gene (SGSH) is associated with a slowly progressive clinical phenotype in mucopolysaccharidosis type IIIA (Sanfilippo A Syndrome)

(2008) Ann Meyer et al.   HUMAN MUTATION

Spinocerebellar Ataxia Type 2 Presenting With Cognitive Regression in Childhood

(2008) Melissa B. Ramocki et al.   JOURNAL OF CHILD NEUROLOGY

X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment

(2008) Leanne M Dibbens et al.   NATURE GENETICS