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Genetics

D-Index
56
Citations
12137
World Ranking
3492
National Ranking
7

Overview

Mustafa A. Salih is affiliated with King Saud University in Saudi Arabia and has an extensive research record primarily focused on biochemistry, genetics, molecular biology, and medicine. Their work spans multiple subfields, including molecular biology, genetics, neurology, cellular and molecular neuroscience, and surgery.

The researcher's scientific contributions address a variety of topics, prominently including genetics and neurodevelopmental disorders, neurological diseases and metabolism, genomics and rare diseases, mitochondrial function and pathology, metabolism and genetic disorders, genetic neurodegenerative diseases, and hereditary neurological disorders.

Frequent coauthors collaborating with Mustafa A. Salih include Ahlam A. Hamed, Liena E. O. Elsayed, Fowzan S. Alkuraya, Muddathir H. Hamad, and Ashraf Yahia.

They have published notably in several academic venues, with the highest number of publications appearing in the Sudanese Journal of Paediatrics, followed by contributions in Genetics in Medicine, Frontiers in Neurology, bioRxiv (Cold Spring Harbor Laboratory), and BMC Neurology.

Recent research papers by Mustafa A. Salih cover a range of genetic and neurological conditions. These include:

  • The morbid genome of ciliopathies: an update (2020, Genetics in Medicine)
  • The clinical, histologic, and genotypic spectrum of SEPN1-related myopathy (2020, Neurology)
  • Acute Necrotizing Encephalopathy of Childhood: A Multicenter Experience in Saudi Arabia (2020, Frontiers in Pediatrics)
  • Rett Syndrome, a Neurodevelopmental Disorder, Whole-Transcriptome, and Mitochondrial Genome Multiomics Analyses Identify Novel Variations and Disease Pathways (2020, OMICS A Journal of Integrative Biology)
  • The natural history of infantile neuroaxonal dystrophy (2020, Orphanet Journal of Rare Diseases)

Best Publications

  • Mutation of TDP1, encoding a topoisomerase I-dependent DNA damage repair enzyme, in spinocerebellar ataxia with axonal neuropathy.

    Hiroshi Takashima;Cornelius F. Boerkoel;Joy John;Gulam Mustafa Saifi

  • Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2

    Alessandra Bolino;Maria Muglia;Francesca Luisa Conforti;Eric LeGuern

  • 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;Shamsa Anazi

  • Mutations in a Human ROBO Gene Disrupt Hindbrain Axon Pathway Crossing and Morphogenesis

    Joanna C. Jen;Wai Man Chan;Thomas M. Bosley;Jijun Wan

  • Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2.

    Uwe Kornak;Ellen Reynders;Aikaterini Dimopoulou;Jeroen Van Reeuwijk

  • Homozygous HOXA1 mutations disrupt human brainstem, inner ear, cardiovascular and cognitive development

    Max A. Tischfield;Thomas M. Bosley;Mustafa A.M. Salih;Ibrahim A. Alorainy

  • Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients

    M. Anheim;B. Monga;B. Monga;M. Fleury;P. Charles

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

    Dorota Monies;Mohamed Abouelhoda;Moeenaldeen AlSayed;Zuhair Alhassnan

  • Mutations of the FHL1 Gene Cause Emery-Dreifuss Muscular Dystrophy

    Lucie Gueneau;Lucie Gueneau;Anne T. Bertrand;Anne T. Bertrand;Jean-Philippe Jais;Mustafa A. Salih

  • C-terminal titin deletions cause a novel early-onset myopathy with fatal cardiomyopathy.

    Virginie Carmignac;Virginie Carmignac;Mustafa A. M. Salih;Susana Quijano-Roy;Susana Quijano-Roy;Sylvie Marchand

  • Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome.

    V. Laugel;C. Dalloz;M. Durand;F. Sauvanaud

  • Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population

    Dorota Monies;Mohammed Abouelhoda;Mirna Assoum;Nabil Moghrabi

  • Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield

    S Anazi;S Maddirevula;E Faqeih;H Alsedairy

  • Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia

    Christelle Tesson;Magdalena Nawara;Magdalena Nawara;Magdalena Nawara;Mustafa A.M. Salih;Rodrigue Rossignol

  • Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations.

    Isabelle Perrault;Sophie Saunier;Sylvain Hanein;Emilie Filhol

  • Exome Sequencing and Functional Validation in Zebrafish Identify GTDC2 Mutations as a Cause of Walker-Warburg Syndrome

    M. Chiara Manzini;Dimira E. Tambunan;Dimira E. Tambunan;R. Sean Hill;R. Sean Hill;Tim W. Yu;Tim W. Yu

  • Genomic analysis of mitochondrial diseases in a consanguineous population reveals novel candidate disease genes

    Hanan E Shamseldin;Muneera Alshammari;Tarfa Al-Sheddi;Mustafa A Salih

  • Mutations in B3GALNT2 Cause Congenital Muscular Dystrophy and Hypoglycosylation of α-Dystroglycan

    Elizabeth Stevens;Keren J. Carss;Sebahattin Cirak;A. Reghan Foley

  • Intragenic deletion in the LARGE gene causes Walker-Warburg syndrome.

    Jeroen van Reeuwijk;Prabhjit K. Grewal;Prabhjit K. Grewal;Mustafa A. M. Salih;Daniel Beltrán-Valero de Bernabé;Daniel Beltrán-Valero de Bernabé

  • Spinocerebellar ataxia with axonal neuropathy: consequence of a Tdp1 recessive neomorphic mutation?

    Ryuki Hirano;Heidrun Interthal;Cheng Huang;Tomonori Nakamura

Frequent Co-Authors

Fowzan S. Alkuraya
Fowzan S. Alkuraya Alfaisal University
Giovanni Stevanin
Giovanni Stevanin Inserm : Institut national de la santé et de la recherche médicale
Christopher A. Walsh
Christopher A. Walsh Howard Hughes Medical Institute
Khaled K. Abu-Amero
Khaled K. Abu-Amero King Saud University
Ranad Shaheen
Ranad Shaheen King Faisal Specialist Hospital & Research Centre
Alexis Brice
Alexis Brice Institut du Cerveau
Michel Koenig
Michel Koenig University of Montpellier
Eissa Faqeih
Eissa Faqeih King Fahd Medical City
Eric LeGuern
Eric LeGuern Institut du Cerveau
Kevin P. Campbell
Kevin P. Campbell University of Iowa

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