Visualitza Articles (Hospital del Mar Research Institute) per autoria "van Eyk, Clare L."

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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 ...