Baig, Shahid Mahmood

Top Publications

Top Publications Authored or Co-Authored by "Baig, Shahid Mahmood"

• Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies

  Genetics in Medicine, Volume 23, No. 11, Year 2021, Citations 100
• Molecular and population genetic analyses of β-thalassemia in Turkey

  American Journal of Hematology, Volume 57, No. 3, Year 1998, Citations 85
• Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome

  Journal of Clinical Investigation, Volume 128, No. 10, Year 2018, Citations 73
• Next-generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational read-through, and PEX26 mutated in Heimler syndrome

  Molecular Genetics and Genomic Medicine, Volume 5, No. 5, Year 2017, Citations 60
• High frequency of the p.R34X mutation in the TMC1 gene associated with nonsyndromic hearing loss is due to founder effects

  Genetic Testing and Molecular Biomarkers, Volume 14, No. 3, Year 2010, Citations 40