Novel mutations in WWOX, RARS2, and C10orf2 genes in consanguineous Arab families with intellectual disability

Systematic Phenomics Analysis Deconvolutes Genes Mutated in Intellectual Disability into Biologically Coherent Modules

(2016) Korinna Kochinke et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Severe CNS involvement inWWOXmutations: Description of five new cases

(2015) Brahim Tabarki et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Introduction to a Thematic Issue for WWOX

(2015) Nan-Shan Chang   EXPERIMENTAL BIOLOGY AND MEDICINE

Revisiting disease genes based on whole-exome sequencing in consanguineous populations

(2015) Ahmed Shamia et al.   HUMAN GENETICS

Pleiotropic Functions of Tumor Suppressor WWOX in Normal and Cancer Cells

(2015) Muhannad Abu-Remaileh et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

WWOX and severe autosomal recessive epileptic encephalopathy: first case in the prenatal period

(2015) Mylène Valduga et al.   JOURNAL OF HUMAN GENETICS

A novel mutation in the promoter of RARS2 causes pontocerebellar hypoplasia in two siblings

(2015) Zejuan Li et al.   JOURNAL OF HUMAN GENETICS

Neuropathologic Characterization of Pontocerebellar Hypoplasia Type 6 Associated With Cardiomyopathy and Hydrops Fetalis and Severe Multisystem Respiratory Chain Deficiency due to NovelRARS2Mutations

(2015) Nichola Z. Lax et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

A global reference for human genetic variation

(2015) Richard A. Gibbs et al.   NATURE

Socioeconomic Disparities and Prevalence of Autism Spectrum Disorders and Intellectual Disability

(2015) Malika Delobel-Ayoub et al.   PLoS One

Identifying Genes Responsible for Intellectual Disability in Consanguineous Families

(2014) Zafar Iqbal et al.   HUMAN HEREDITY

WWOX-related encephalopathies: delineation of the phenotypical spectrum and emerging genotype-phenotype correlation

(2014) Cyril Mignot et al.   JOURNAL OF MEDICAL GENETICS

A Novel Whole Exon Deletion in WWOX Gene Causes Early Epilepsy, Intellectual Disability and Optic Atrophy

(2014) Salma Ben-Salem et al.   JOURNAL OF MOLECULAR NEUROSCIENCE

Neuropathologic Features of Pontocerebellar Hypoplasia Type 6

(2014) Jeffrey T. Joseph et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

Recessive C10orf2 mutations in a family with infantile-onset spinocerebellar ataxia, sensorimotor polyneuropathy, and myopathy

(2014) Mi-Hyun Park et al.   NEUROGENETICS

Mutations in Twinkle primase-helicase cause Perrault syndrome with neurologic features

(2014) H. Morino et al.   NEUROLOGY

The supposed tumor suppressor gene WWOX is mutated in an early lethal microcephaly syndrome with epilepsy, growth retardation and retinal degeneration

(2014) Ghada Abdel-Salam et al.   Orphanet Journal of Rare Diseases

Subdural effusions and lack of early pontocerebellar hypoplasia in siblings with RARS2 mutations

(2013) K. Kastrissianakis et al.   ARCHIVES OF DISEASE IN CHILDHOOD

The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation

(2013) Martial Mallaret et al.   BRAIN

CUL3 and protein kinases: Insights from PLK1/KLHL22 interaction

(2013) Thibaud Metzger et al.   CELL CYCLE

Novel mutations in typical and atypical genetic loci through exome sequencing in autosomal recessive cerebellar ataxia families

(2013) M. Faruq et al.   CLINICAL GENETICS

Recent Advances in the Genetic Etiology of Brain Malformations

(2013) David A. Dyment et al.   Current Neurology and Neuroscience Reports

The application of next-generation sequencing in the autozygosity mapping of human recessive diseases

(2013) Fowzan S. Alkuraya   HUMAN GENETICS

TWINKLE is an essential mitochondrial helicase required for synthesis of nascent D-loop strands and complete mtDNA replication

(2013) D. Milenkovic et al.   HUMAN MOLECULAR GENETICS

Genetic Basis of Intellectual Disability

(2012) Jay W. Ellison et al.   Annual Review of Medicine

A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff

(2012) Pablo Cingolani et al.   FLY

Pontocerebellar hypoplasia type 6 caused by mutations in RARS2: definition of the clinical spectrum and molecular findings in five patients

(2012) Denise Cassandrini et al.   JOURNAL OF INHERITED METABOLIC DISEASE

HomozygosityMapper2012--bridging the gap between homozygosity mapping and deep sequencing

(2012) D. Seelow et al.   NUCLEIC ACIDS RESEARCH

Genetic and Epigenetic Networks in Intellectual Disabilities

(2011) Hans van Bokhoven   Annual Review of Genetics

Further delineation of pontocerebellar hypoplasia type 6 due to mutations in the gene encoding mitochondrial arginyl-tRNA synthetase, RARS2

(2011) Emma Glamuzina et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Classification, diagnosis and potential mechanisms in Pontocerebellar Hypoplasia

(2011) Yasmin Namavar et al.   Orphanet Journal of Rare Diseases

Pontocerebellar hypoplasia type 6: A British case with PEHO-like features

(2010) Julia Rankin et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia

(2010) Yasmin Namavar et al.   BRAIN

Homozygosity mapping: One more tool in the clinical geneticist's toolbox

(2010) Fowzan S Alkuraya   GENETICS IN MEDICINE

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

A spontaneous mutation of theWwoxgene and audiogenic seizures in rats with lethal dwarfism and epilepsy

(2009) H. Suzuki et al.   GENES BRAIN AND BEHAVIOR

A novel variation in the Twinkle linker region causing late-onset dementia

(2009) Andoni Echaniz-Laguna et al.   NEUROGENETICS