PaoloFortinaMD

PubMed

• 42 citations
  Autosomal recessive congenital ichthyosis: Genomic landscape and phenotypic spectrum in a cohort of 125 consanguineous families
  Leila Youssefian, Hassan Vahidnezhad, Amir Hossein Saeidian, Andrew Touati, Soheila Sotoudeh
  Human Mutation. 2019-03-01
• 305 citations
  High carrier frequency of the 35delG deafness mutation in European populations
  Paolo Gasparini, Raquel Rabionet, Guido Barbujani, Salvatore Melchionda, Michael B. Petersen
  European Journal of Human Genetics. 2000-01-01
• 463 citations
  Connexin26 Mutations Associated with the Most Common Form of Non-Syndromic Neurosensory Autosomal Recessive Deafness (DFNB1) in Mediterraneans
  Leopoldo Zelante, Paolo Gasparini, Xavier Estivill, Salvatore Melchionda, Leonardo D'Agruma
  Human Molecular Genetics. 1997-09-01

Journal Articles

• Effects of Genetic Variation in Protease Activated Receptor 4 After an Acute Coronary Syndrome: Analysis from the TRACER Trial  
  Paolo Fortina, David J Moliterno, Robert A Harrington, Kenneth W Mahaffey, ScienceDirect
• Recessive Mutation in Tetraspanin CD151 Causes Kindler Syndrome-like Epidermolysis Bullosa with Multi-Systemic Manifestations Including Nephropathy  
  Paolo Fortina, Jouni Uitto, ScienceDirect

Abstracts/Posters

• Hematopoietic Cell Cluster Identifier (HCCI): A Knowledgebase Computational Tool to Facilitate the Characterization of Hematopoietic Cell Populations in Single Cell RN...
  Paolo Fortina, 61st Annual American Society of Hematology Meeting, Orlando, FL, 12/9/2019