Tulbah, Maha I.

Top Publications

Top Publications Authored or Co-Authored by "Tulbah, Maha I."

• Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families

  Cell Reports, Volume 10, No. 2, Year 2015, Citations 386
• The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes

  Human Genetics, Volume 136, No. 8, Year 2017, Citations 100
• Molecular autopsy in maternal-fetal medicine

  Genetics in Medicine, Volume 20, No. 4, Year 2018, Citations 87
• Genomic and phenotypic delineation of congenital microcephaly

  Genetics in Medicine, Volume 21, No. 3, Year 2019, Citations 81
• Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families

  Nature Communications, Volume 14, No. 1, Article 5269, Year 2023, Citations 68