King Faisal Military Hospital

Top Publications

Top Publications Authored or Co-Authored in "King Faisal Military Hospital"

• 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
• Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia

  Brain, Volume 144, No. 5, Year 2021, Citations 100
• Genomic and phenotypic delineation of congenital microcephaly

  Genetics in Medicine, Volume 21, No. 3, Year 2019, Citations 81
• Autozygome and high throughput confirmation of disease genes candidacy

  Genetics in Medicine, Volume 21, No. 3, Year 2019, Citations 78
• 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