Rossi, Massimiliano

Top Publications

Top Publications Authored or Co-Authored by "Rossi, Massimiliano"

• New insights into genotype-phenotype correlation for GLI3 mutations

  European Journal of Human Genetics, Volume 23, No. 1, Year 2015, Citations 90
• Genetic abnormalities in a large cohort of Coffin–Siris syndrome patients

  Journal of Human Genetics, Volume 64, No. 12, Year 2019, Citations 79
• Whole-exome sequencing improves the diagnosis yield in sporadic infantile spasm syndrome

  Clinical Genetics, Volume 89, No. 2, Year 2016, Citations 76
• Arterial tortuosity syndrome: 40 new families and literature review

  Genetics in Medicine, Volume 20, No. 10, Year 2018, Citations 67
• Autosomal recessive primary microcephaly due to ASPM mutations: An update

  Human Mutation, Volume 39, No. 3, Year 2018, Citations 54