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

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

Martial Mallaret, Matthis Synofzik, Jae‐Ho Lee et al. · Brain · 2013 · 127 citations · Full text

Neurobiology Of Disease, Mendelian Disorder, Neurological Disorder +15

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

Ghada M. H. Abdel‐Salam, Michaela Thoenes, Hanan H. Afifi et al. · Orphanet Journal of Rare Diseases · 2014 · 87 citations · Full text

<i>WWOX</i>-related encephalopathies: delineation of the phenotypical spectrum and emerging genotype-phenotype correlation

Cyril Mignot, Laëtitia Lambert, Laurent Pasquier et al. · Journal of Medical Genetics · 2014 · 79 citations

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

Stefan J. White, Jacqueline Hewitt, Erin Turbitt et al. · European Journal of Human Genetics · 2011 · 60 citations · Full text

Sex Development, Infertility, Sexual Development (Clinical Endocrinology) +9

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

Salma Ben‐Salem, Aisha Al‐Shamsi, Anne John et al. · Journal of Molecular Neuroscience · 2014 · 44 citations

Mendelian Disorder, Genetic Disorder, Genetics +6