Hadipour, Zahra

Top Publications

Top Publications Authored or Co-Authored by "Hadipour, Zahra"

• A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome

  European Journal of Human Genetics, Volume 29, No. 2, Year 2021, Citations 46
• Combining exome/genome sequencing with data repository analysis reveals novel gene–disease associations for a wide range of genetic disorders

  Genetics in Medicine, Volume 23, No. 8, Year 2021, Citations 37
• Insights into the Value of Lyso-Gb1 as a Predictive Biomarker in Treatment-Naïve Patients with Gaucher Disease Type 1 in the LYSO-PROOF Study

  Diagnostics, Volume 13, No. 17, Article 2812, Year 2023, Citations 25
• The genomic architecture of NLRP7 is Alu rich and predisposes to disease-associated large deletions

  European Journal of Human Genetics, Volume 24, No. 10, Year 2016, Citations 23
• Novel pathogenic variants in NLRP7, NLRP5, and PADI6 in patients with recurrent hydatidiform moles and reproductive failure

  Clinical Genetics, Volume 99, No. 6, Year 2021, Citations 15