Ali Al Asmari
King Fahd Medical City(SA)
Publications by Year
Research Areas
Genomics and Rare Diseases, Metabolism and Genetic Disorders, Genetics and Neurodevelopmental Disorders, Mitochondrial Function and Pathology, RNA and protein synthesis mechanisms
Most-Cited Works
- → Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield(2016)257 cited
- → Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate(2016)110 cited
- → Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy(2016)81 cited
- → ADAT3‐related intellectual disability: Further delineation of the phenotype(2016)62 cited
- → Molecular and clinical spectra of FBXL4 deficiency(2017)55 cited
- → Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy(2020)53 cited
- → Categorized Genetic Analysis in Childhood-Onset Cardiomyopathy(2020)38 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
- → Additional file 1: Table S1. of Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate(2016)
- → Additional file 2: Figure S1. of Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate(2016)