Al-Balwi, Mohammed Ali

Top Publications

Top Publications Authored or Co-Authored by "Al-Balwi, Mohammed Ali"

• Homozygosity for a Missense Mutation in SERPINH1, which Encodes the Collagen Chaperone Protein HSP47, Results in Severe Recessive Osteogenesis Imperfecta

  American Journal of Human Genetics, Volume 86, No. 3, Year 2010, Citations 298
• Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia

  American Journal of Human Genetics, Volume 91, No. 6, Year 2012, Citations 177
• Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population

  American Journal of Human Genetics, Volume 104, No. 6, Year 2019, Citations 100
• Clinical, biochemical, cellular and molecular characterization of mitochondrial DNA depletion syndrome due to novel mutations in the MPV17 gene

  European Journal of Human Genetics, Volume 22, No. 2, Year 2014, Citations 65
• Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism

  Nature Genetics, Volume 49, No. 4, Year 2017, Citations 62