Abdulaziz Alsaman
King Faisal University(SA)
Publications by Year
Research Areas
Muscle Physiology and Disorders, Neurogenetic and Muscular Disorders Research, Genetics and Neurodevelopmental Disorders, Metabolism and Genetic Disorders, Genomic variations and chromosomal abnormalities
Most-Cited Works
- → The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes(2017)300 cited
- → Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield(2016)257 cited
- → Expanding the genetic heterogeneity of intellectual disability(2017)176 cited
- → Clinical, Pathologic, and Mutational Spectrum of Dystroglycanopathy Caused byLARGEMutations(2014)51 cited
- → FARS2 deficiency; new cases, review of clinical, biochemical, and molecular spectra, and variants interpretation based on structural, functional, and evolutionary significance(2018)34 cited
- → Loss of function variants in DNAJB4 cause a myopathy with early respiratory failure(2022)31 cited
- → Novel cofilin-2 (CFL2) four base pair deletion causing nemaline myopathy(2014)31 cited
- → Novel homozygous DEAF1 variant suspected in causing white matter disease, intellectual disability, and microcephaly(2014)22 cited
- → Consensus Statement on the Management of Duchenne Muscular Dystrophy in Saudi Arabia During the Coronavirus Disease 2019 Pandemic(2021)21 cited
- → Hepatocerebral form of mitochondrial DNA depletion syndrome due to mutation in MPV17 gene(2012)21 cited