Abramowicz, Marc Joel

Top Publications

Top Publications Authored or Co-Authored by "Abramowicz, Marc Joel"

• RASA1 Mutations and Associated Phenotypes in 68 Families with Capillary Malformation-Arteriovenous Malformation

  Human Mutation, Volume 34, No. 12, Year 2013, Citations 221
• Protein-Truncating Mutations in ASPM Cause Variable Reduction in Brain Size

  American Journal of Human Genetics, Volume 73, No. 5, Year 2003, Citations 182
• 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
• FGFR1 mutations cause hartsfield syndrome, the unique association of holoprosencephaly and ectrodactyly

  Journal of Medical Genetics, Volume 50, No. 9, Year 2013, Citations 66
• Autosomal recessive primary microcephaly due to ASPM mutations: An update

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