Cox, Helen

Top Publications

Top Publications Authored or Co-Authored by "Cox, Helen"

• Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing

  Nature Genetics, Volume 48, No. 9, Year 2016, Citations 329
• The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies

  Nature Genetics, Volume 49, No. 1, Year 2017, Citations 247
• Genetic abnormalities in a large cohort of Coffin–Siris syndrome patients

  Journal of Human Genetics, Volume 64, No. 12, Year 2019, Citations 79
• Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism

  Nature Genetics, Volume 49, No. 4, Year 2017, Citations 62
• Widening the mutation spectrum of EVC and EVC2: Ectopic expression of Weyer variants in NIH 3T3 fibroblasts disrupts hedgehog signaling

  Human Mutation, Volume 30, No. 12, Year 2009, Citations 57