Stark, Zornitza L.

Top Publications

Top Publications Authored or Co-Authored by "Stark, Zornitza L."

• The Cockayne Syndrome Natural History (CoSyNH) study: Clinical findings in 102 individuals and recommendations for care

  Genetics in Medicine, Volume 18, No. 5, Year 2016, Citations 128
• Cornelia de Lange syndrome in diverse populations

  American Journal of Medical Genetics, Part A, Volume 179, No. 2, Year 2019, Citations 65
• Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disorders

  Genetics in Medicine, Volume 25, No. 8, Article 100885, Year 2023, Citations 64
• Missense variants in TAF1 and developmental phenotypes: Challenges of determining pathogenicity

  Human Mutation, Volume 41, No. 2, Year 2020, Citations 56
• The Gene Curation Coalition: A global effort to harmonize gene–disease evidence resources

  Genetics in Medicine, Volume 24, No. 8, Year 2022, Citations 46