Majid Alfadhel - Genetic Mutations

Author Information

Dr. Majid Alfadhel is affiliated with several prestigious institutions in Saudi Arabia. He is associated with the King Abdullah International Medical Research Centre and the King Saud bin Abdulaziz University for Health Sciences. Dr. Alfadhel is also part of the Division of Genetics within the Department of Pediatrics at King Abdulaziz Medical City, Ministry of National Guard-Health Affairs (NGHA) in Riyadh, Saudi Arabia.

Research Contributions

Dr. Majid Alfadhel has made significant contributions to the field of genetics, particularly in understanding various genetic disorders and their impacts. His research work spans a range of topics including progressive encephalopathy, infantile-onset refractory epilepsy, common disease-associated gene variants, neurodevelopmental disorders, and inborn errors of metabolism. His studies have utilized advanced techniques such as deep learning for structural variant prioritization and artificial intelligence for variant scoring. Dr. Alfadhel's work is particularly notable for its focus on the Saudi Arabian population, providing valuable insights into the genetic landscape of the region.

Aliases

Dr. Majid Alfadhel is also known by other names including M Alfadhel and M. Alfadhel.

Publication and Citation Metrics

Metric	Value
Citation Count	4945
h-index	33
Paper Count	231

Publications:

Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy.

DOI: 10.1093/brain/awac116

Year: 2022

The variant artificial intelligence easy scoring (VARIES) system

DOI: 10.1016/j.compbiomed.2022.105492

Year: 2022

Common disease-associated gene variants in a Saudi Arabian population

DOI: 10.5144/0256-4947.2022.29

Year: 2022

Expanding the genotype and phenotype spectrum of SYT1-associated neurodevelopmental disorder.

DOI: 10.1016/j.gim.2021.12.002

Year: 2022

Thiamine Disorders

DOI: 10.1007/978-3-030-67727-5_31

Year: 2022

Cut-off values in newborn screening for inborn errors of metabolism in Saudi Arabia

DOI: 10.5144/0256-4947.2022.107

Year: 2022

DeepSVP: integration of genotype and phenotype for structural variant prioritization using deep learning

DOI: 10.1093/bioinformatics/btab859

Year: 2022

Molecular autopsy by proxy in preconception counseling

DOI: 10.1111/cge.14049

Year: 2021

Pathogenic STX3 variants affecting the retinal and intestinal transcripts cause an early-onset severe retinal dystrophy in microvillus inclusion disease subjects

DOI: 10.1007/s00439-021-02284-1

Year: 2021

The rate of secondary genomic findings in the Saudi population

DOI: 10.1002/ajmg.a.62491

Year: 2021

What are Immunotherapies?

What is Genetic Sequencing?

What Is the Role of Genetics in Cognitive Development?

What Preventive Measures Can Be Taken?

What Are the Applications of Studying Nucleotide Mutations?

What are inherited genetic mutations?

What Are the Consequences of Meiosis Errors?

What Types of Chemicals Are Known Mutagens?

What is the Prognosis for Individuals with Cystic Fibrosis?

What is PacBio?

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