Busa, Tiffany

Top Publications

Top Publications Authored or Co-Authored by "Busa, Tiffany"

• Arterial tortuosity syndrome: 40 new families and literature review

  Genetics in Medicine, Volume 20, No. 10, Year 2018, Citations 67
• Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disability

  Clinical Genetics, Volume 84, No. 6, Year 2013, Citations 61
• Autosomal recessive primary microcephaly due to ASPM mutations: An update

  Human Mutation, Volume 39, No. 3, Year 2018, Citations 54
• Disentangling molecular and clinical stratification patterns in beta-galactosidase deficiency

  Journal of Medical Genetics, Volume 59, No. 4, Year 2022, Citations 47
• Intragenic rearrangements in X-linked intellectual deficiency: Results of a-CGH in a series of 54 patients and identification of TRPC5 and KLHL15 as potential XLID genes

  American Journal of Medical Genetics, Part A, Volume 164, No. 8, Year 2014, Citations 28