Majid Alfadhel - Concepedia

Author

Majid Alfadhel

King Saud bin Abdulaziz University for Health Sciences ORCID

Also Known As

Alfadhel, M, Alfadhel, Majid, John Opitz, Kai M Rösler, M Alfadhel, M. Alfadhel, Maha S. Zaki, Majid Al-Fadhel, Majid AlFadhel, Majid Alfadhel

273

Publications

7.6K

Citations

H-Index

133

Concepts

All Affiliations

King Saud bin Abdulaziz University for Health Sciences King Abdulaziz Medical City National Guard Health Affairs King Abdullah International Medical Research Center King Faisal Specialist Hospital & Research Centre

About

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

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	24	36	2.6K
2	Public Health	5	5	527
3	Health Sciences	2	2	61
4	Natural Sciences	2	2	109
5	Education	1	1	12

Majid Alfadhel

122

Publications

6.3K

Citations

H-Index

Page 1

	Year	Citations
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, Cell Reports	2014	465
Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome Carmen C. Leitch, Norann A. Zaghloul, Erica E. Davis, Nature Genetics Syndromic Encephalocele GenesDevelopmental BiologyMendelian DisorderGenetic DisorderGenetics	2008	394
Clinical exome sequencing: results from 2819 samples reflecting 1000 families Daniel Trujillano, Aida M. Bertoli‐Avella, Krishna Kumar Kandaswamy, European Journal of Human Genetics Wes ProcessesGeneticsGenetic EpidemiologyDiagnosisPathology	2016	361
The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes Dorota Monies, Mohamed Abouelhoda, Moeenaldeen AlSayed, Human Genetics	2017	296
Exome Sequencing and the Management of Neurometabolic Disorders Maja Tarailo‐Graovac, Casper Shyr, Colin J.D. Ross, New England Journal of Medicine	2016	274
Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield Shams Anazi, Sateesh Maddirevula, Eissa Faqeih, Molecular Psychiatry Intellectual ImpairmentMedicineGeneticsNeurologyGenomics	2016	254
Expanding the genetic heterogeneity of intellectual disability Shams Anazi, Sateesh Maddirevula, Vincenzo Salpietro, Human Genetics Intellectual ImpairmentGeneticsDisabilityGenetic EpidemiologyGenetic Factor	2017	173
Whole-genome sequencing offers additional but limited clinical utility compared with reanalysis of whole-exome sequencing Ahmed Alfares, Taghrid Aloraini, Lamia Al subaie, Genetics in Medicine Long-read SequencingSequencingWhole-exome SequencingGeneticsNext-generation Sequencing	2018	167
Clinical Genetics of Polydactyly: An Updated Review Muhammad Umair, Farooq Ahmad, Muhammad Bilal, Frontiers in Genetics	2018	117
Successful application of genome sequencing in a diagnostic setting: 1007 index cases from a clinically heterogeneous cohort Aida M. Bertoli‐Avella, Christian Beetz, Najim Ameziane, European Journal of Human Genetics	2020	115

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