Calvas, Patrick

Top Publications

Top Publications Authored or Co-Authored by "Calvas, Patrick"

• Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2

  Nature Genetics, Volume 36, No. 3, Year 2004, Citations 473
• Efficacy of exome-targeted capture sequencing to detect mutations in known cerebellar ataxia genes

  JAMA Neurology, Volume 75, No. 5, Year 2018, Citations 97
• Validation of a clinical practice-based algorithm for the diagnosis of autosomal recessive cerebellar ataxias based on NGS identified cases

  Journal of Neurology, Volume 263, No. 7, Year 2016, Citations 54
• De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit Anomalies

  American Journal of Human Genetics, Volume 105, No. 3, Year 2019, Citations 34
• Bi-allelic variants in WNT7B disrupt the development of multiple organs in humans

  Journal of Medical Genetics, Volume 60, No. 3, Year 2023, Citations 28