Mark, Paul R.

Top Publications

Top Publications Authored or Co-Authored by "Mark, Paul R."

• Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders

  Nature Communications, Volume 14, No. 1, Article 4109, Year 2023, Citations 100
• Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies

  Genetics in Medicine, Volume 23, No. 9, Year 2021, Citations 66
• Missense variants in TAF1 and developmental phenotypes: Challenges of determining pathogenicity

  Human Mutation, Volume 41, No. 2, Year 2020, Citations 56
• Mutations in cep120 cause joubert syndrome as well as complex ciliopathy phenotypes

  Journal of Medical Genetics, Volume 53, No. 9, Year 2016, Citations 53