Khalid Al‐Thihli
Boston Children's Hospital(US)Sultan Qaboos University Hospital(OM)
Publications by Year
Research Areas
Metabolism and Genetic Disorders, Mitochondrial Function and Pathology, RNA modifications and cancer, Genomics and Rare Diseases, Genetics and Neurodevelopmental Disorders
Most-Cited Works
- → The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes(2017)300 cited
- → Enhanced interpretation of newborn screening results without analyte cutoff values(2012)123 cited
- → PLPHP deficiency: clinical, genetic, biochemical, and mechanistic insights(2018)87 cited
- → Reanalysis of exome sequencing data of intellectual disability samples: Yields and benefits(2018)72 cited
- → Efficacy and safety of empagliflozin in glycogen storage disease type Ib: Data from an international questionnaire(2022)62 cited
- → Combined malonic and methylmalonic aciduria: exome sequencing reveals mutations in the ACSF3 gene in patients with a non-classic phenotype(2011)48 cited
- → Guidelines for acute management of hyperammonemia in the Middle East region(2016)47 cited
- → An update on ocular involvement in mucopolysaccharidoses(2013)47 cited
- → Drug treatment of inborn errors of metabolism: a systematic review(2013)37 cited
- → Consanguinity, Endogamy and Inborn Errors of Metabolism in Oman: A Cross-Sectional Study(2014)35 cited