Browsing by Author "Gecz, Jozef"

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  • Genetic or other causation should not change the clinical diagnosis of cerebral palsy
    MacLennan, Alastair H.; Pérez Jurado, Luis Alberto; Gecz, Jozef (SAGE Publications, 2019)
    High throughput sequencing is discovering many likely causative genetic variants in individuals with cerebral palsy. Some investigators have suggested that this changes the clinical diagnosis of cerebral palsy and that ...
  • Missense variant contribution to USP9X-female syndrome
    Jolly, Lachlan A.; Pérez Jurado, Luis Alberto; Gecz, Jozef (Nature Research, 2020)
    USP9X is an X-chromosome gene that escapes X-inactivation. Loss or compromised function of USP9X leads to neurodevelopmental disorders in males and females. While males are impacted primarily by hemizygous partial ...
  • Pathogenic copy number variants that affect gene expression contribute to genomic burden in cerebral palsy
    Corbett, Mark A.; van Eyk, Clare L.; Webber, Dani L.; Bent, Stephen J.; Newman, Morgan; Harper, Kelly; Berry, Jesia G.; Azmanov, Dimitar N.; Woodward, Karen J.; Gardner, Alison E.; Slee, Jennie; Pérez Jurado, Luis Alberto; MacLennan, Alastair H.; Gecz, Jozef (Nature Research, 2018)
    Cerebral palsy (CP) is the most frequent movement disorder of childhood affecting 1 in 500 live births in developed countries. We previously identified likely pathogenic de novo or inherited single nucleotide variants (SNV) ...
  • Yield of clinically reportable genetic variants in unselected cerebral palsy by whole genome sequencing
    van Eyk, Clare L.; Webber, Dani L.; Minoche, André E.; Pérez Jurado, Luis Alberto; Corbett, Mark A.; Gardner, Alison E.; Berry, Jesia G.; Harper, Kelly; MacLennan, Alastair H.; Gecz, Jozef (Nature Research, 2021)
    Cerebral palsy (CP) is the most common cause of childhood physical disability, with incidence between 1/500 and 1/700 births in the developed world. Despite increasing evidence for a major contribution of genetics to CP ...