AlShammari, Muneera J.

Top Publications

Top Publications Authored or Co-Authored by "AlShammari, Muneera J."

• 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
• Genomic analysis of mitochondrial diseases in a consanguineous population reveals novel candidate disease genes

  Journal of Medical Genetics, Volume 49, No. 4, Year 2012, Citations 165
• 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
• The clinical utility of rapid exome sequencing in a consanguineous population

  Genome Medicine, Volume 15, No. 1, Article 44, Year 2023, Citations 67
• Molecular characterization of Joubert syndrome in Saudi Arabia

  Human Mutation, Volume 33, No. 10, Year 2012, Citations 58