Pippucci, Tommaso

Top Publications

Top Publications Authored or Co-Authored by "Pippucci, Tommaso"

• Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2

  Nature Communications, Volume 10, No. 1, Article 4920, Year 2019, Citations 98
• Analysis of 339 pregnancies in 181 women with 13 different forms of inherited thrombocytopenia

  Haematologica, Volume 99, No. 8, Year 2014, Citations 65
• Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis

  American Journal of Human Genetics, Volume 105, No. 4, Year 2019, Citations 52
• KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis

  American Journal of Human Genetics, Volume 102, No. 1, Year 2018, Citations 44
• Estimating the Allele Frequency of Autosomal Recessive Disorders through Mutational Records and Consanguinity: The Homozygosity Index (HI)

  Annals of Human Genetics, Volume 76, No. 2, Year 2012, Citations 21