Farra, Chantal

Top Publications

Top Publications Authored or Co-Authored by "Farra, Chantal"

• Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification

  Human Mutation, Volume 40, No. 9, Year 2019, Citations 100
• Clinical and molecular analysis in families with autosomal recessive osteogenesis imperfecta identifies mutations in five genes and suggests genotype-phenotype correlations

  American Journal of Medical Genetics, Part A, Volume 161, No. 6, Year 2013, Citations 43
• Molecular analysis of pericentrin gene (PCNT) in a series of 24 Seckel/microcephalic osteodysplastic primordial dwarfism type II (MOPD II) families

  Journal of Medical Genetics, Volume 47, No. 12, Year 2010, Citations 31
• A synonymous variant in MYO15A enriched in the Ashkenazi Jewish population causes autosomal recessive hearing loss due to abnormal splicing

  European Journal of Human Genetics, Volume 29, No. 6, Year 2021, Citations 28
• Genotype/Phenotype Correlation in Primary Congenital Glaucoma Patients in the Lebanese Population: A Pilot Study

  Ophthalmic Genetics, Volume 37, No. 1, Year 2016, Citations 19