Fuad Al Mutairi - Genetic Mutations

Author Information

F. Al Mutairi is affiliated with the Medical Genetics Division, Department of Pediatrics, King Abdullah Specialized Children's Hospital, King Abdulaziz Medical City, P. O Box 22490, Riyadh, 11426, Saudi Arabia. The affiliation information has been sourced from PubMed.

Research Contributions

F. Al Mutairi has contributed significantly to the field of genetics, with a focus on various genetic disorders and their underlying causes. Notable studies include the development of the variant artificial intelligence easy scoring (VARIES) system, the exploration of secondary genomic findings in the Saudi population, and the investigation of biallelic ZNFX1 variants associated with immuno-hematological abnormalities. Al Mutairi's research also delves into the phenotypic spectrum of dihydrolipoamide dehydrogenase deficiency and leukodystrophies in Saudi Arabia. The author has also examined the long-term effectiveness of carglumic acid in patients with propionic acidemia and methylmalonic acidemia, and explored inherited deficiencies such as stress granule ZNFX1 in patients with monocytosis and mycobacterial disease. Furthermore, Al Mutairi has investigated the genetic basis of isolated dilated cardiomyopathy and evaluated the impact of LRRK2 loss-of-function variants in rare diseases.

Aliases

F. Al Mutairi is also known by the aliases "F Al Mutairi" and "Fuad Al Mutairi".

Publication and Citation Metrics

Metric Value
Citation Count 1449
H-index 17
Paper Count 52

Publications:

DOI: 10.1016/j.compbiomed.2022.105492

Year: 2022

DOI: 10.1002/ajmg.a.62491

Year: 2021

DOI: 10.1111/cge.14081

Year: 2021

DOI: 10.1016/j.ymgmr.2021.100817

Year: 2021

DOI: 10.3389/fped.2021.633385

Year: 2021

DOI: 10.1186/s13023-021-02032-8

Year: 2021

DOI: 10.1073/pnas.2102804118

Year: 2021

DOI: 10.1161/CIRCGEN.120.003310

Year: 2021

DOI: 10.1002/mds.28452

Year: 2021

DOI: 10.1038/s41436-021-01159-0

Year: 2021

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