Accelerating Novel Candidate Gene Discovery in Neurogenetic Disorders via Whole-Exome Sequencing of Prescreened Multiplex Consanguineous Families
2014 · Cell Reports · 465 citations
https://doi.org/10.1016/j.celrep.2014.12.015
M
Majid Alfadhel
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Majid Alfadhel is an academic researcher from King Saud bin Abdulaziz University for Health Sciences. The author has contributed to research in topics: Metabolism and Genetic Disorders & Genomics and Rare Diseases & Genetics and Neurodevelopmental Disorders. The author has an h-index of 45, co-authored 232 publications.
ORCID: 0000-0002-9427-7240Papers by this author
worksClinical exome sequencing: results from 2819 samples reflecting 1000 families
2016 · European Journal of Human Genetics · 361 citations
https://doi.org/10.1038/ejhg.2016.146
Autozygome and high throughput confirmation of disease genes candidacy
2018 · Genetics in Medicine · 112 citations
https://doi.org/10.1038/s41436-018-0138-x
Thirteen year retrospective review of the spectrum of inborn errors of metabolism presenting in a tertiary center in Saudi Arabia
2016 · Orphanet Journal of Rare Diseases · 81 citations
https://doi.org/10.1186/s13023-016-0510-3
Mutation in SLC6A9 encoding a glycine transporter causes a novel form of non-ketotic hyperglycinemia in humans
2016 · Human Genetics · 45 citations
https://doi.org/10.1007/s00439-016-1719-x
Expanding the genotype and phenotype spectrum of SYT1-associated neurodevelopmental disorder
2022 · Genetics in Medicine · 41 citations
https://doi.org/10.1016/j.gim.2021.12.002
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