The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature

Diagnostic yield of targeted gene panel sequencing to identify the genetic etiology of disorders of sex development

(2017) Ja Hye Kim et al.   MOLECULAR AND CELLULAR ENDOCRINOLOGY

Ensembl 2018

(2017) Daniel R Zerbino et al.   NUCLEIC ACIDS RESEARCH

W44X mutation in the WWOX gene causes intractable seizures and developmental delay: a case report

(2016) Loai Elsaadany et al.   BMC Medical Genetics

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

(2016) Asem M. Alkhateeb et al.   METABOLIC BRAIN DISEASE

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

Severe CNS involvement inWWOXmutations: Description of five new cases

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

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

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

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

The Functional Copy Number Variation-67048 inWWOXContributes to Increased Risk of COPD in Southern and Eastern Chinese

(2014) Lei Yang et al.   COPD-Journal of Chronic Obstructive Pulmonary Disease

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

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

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

(2013) Martial Mallaret et al.   BRAIN

A functional copy number variation in the WWOX gene is associated with lung cancer risk in Chinese

(2013) Lei Yang et al.   HUMAN MOLECULAR GENETICS

The Database of Genomic Variants: a curated collection of structural variation in the human genome

(2013) Jeffrey R. MacDonald et al.   NUCLEIC ACIDS RESEARCH

In-Frame Mutations in Exon 1 of SKI Cause Dominant Shprintzen-Goldberg Syndrome

(2012) Virginie Carmignac et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A multi-exon deletion within WWOX is associated with a 46,XY disorder of sex development

(2011) Stefan White et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Integrative genomics viewer

(2011) James T Robinson et al.   NATURE BIOTECHNOLOGY

AberrantGRIA3transcripts with multi-exon duplications in a family with X-linked mental retardation

(2009) C. Bonnet et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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

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

Targeted Ablation of the WW Domain-Containing Oxidoreductase Tumor Suppressor Leads to Impaired Steroidogenesis

(2008) Rami I. Aqeilan et al.   ENDOCRINOLOGY