Mari, Francesca

Top Publications

Top Publications Authored or Co-Authored by "Mari, Francesca"

• Mapping the human genetic architecture of COVID-19

  Nature, Volume 600, No. 7889, Year 2021, Citations 427
• Mutational spectrum of the oral-facial-digital type I syndrome: A study on a large collection of patients

  Human Mutation, Volume 29, No. 10, Year 2008, Citations 100
• Exome-wide association study to identify rare variants influencing COVID-19 outcomes: Results from the Host Genetics Initiative

  PLoS Genetics, Volume 18, No. 11, Article e1010367, Year 2022, Citations 100
• Phenotype and genotype of 87 patients with Mowat–Wilson syndrome and recommendations for care

  Genetics in Medicine, Volume 20, No. 9, Year 2018, Citations 80
• The phenotype of Floating-Harbor syndrome: Clinical characterization of 52 individuals with mutations in exon 34 of SRCAP

  Orphanet Journal of Rare Diseases, Volume 8, No. 1, Article 63, Year 2013, Citations 68