Majid Alfadhel

Statistics

Publications

128

Citations

6.7K

H-Index

Active since

2008

Affiliations

King Saud bin Abdulaziz University for Health Sciences(Current)

King Abdulaziz Medical City

National Guard Health Affairs

King Abdullah International Medical Research Center

King Faisal Specialist Hospital & Research Centre

Majid Alfadhel is an author at King Saud bin Abdulaziz University for Health Sciences specializing in genetics, life sciences, and molecular genetics.

ORCID

Publications per year

2008–2023

128

Publications

128

Accelerating Novel Candidate Gene Discovery in Neurogenetic Disorders via Whole-Exome Sequencing of Prescreened Multiplex Consanguineous Families

Anas M. Alazami, Nisha Patel, Hanan E. Shamseldin et al. · Cell Reports · 2014 · 472 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome

Carmen C. Leitch, Norann A. Zaghloul, Erica E. Davis et al. · Nature Genetics · 2008 · 397 citations

Life Sciences, Genetics, Molecular Genetics +14

Clinical exome sequencing: results from 2819 samples reflecting 1000 families

Daniel Trujillano, Aida M. Bertoli‐Avella, Krishna Kumar Kandaswamy et al. · European Journal of Human Genetics · 2016 · 369 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes

Dorota Monies, Mohamed Abouelhoda, Moeenaldeen AlSayed et al. · Human Genetics · 2017 · 309 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Exome Sequencing and the Management of Neurometabolic Disorders

Maja Tarailo‐Graovac, Casper Shyr, Colin J.D. Ross et al. · New England Journal of Medicine · 2016 · 280 citations · Full text

Life Sciences, Bioinformatics, Genetics +12

1–5 of 128