What is he best known for?
The fields of study he is best known for:
- Mutation
- Gene
- Internal medicine
The scientist’s investigation covers issues in Genetics, Mutation, Exome sequencing, Candidate gene and Gene.
His Phenotype, Muscular dystrophy, Genetic heterogeneity, Exon and Missense mutation investigations are all subjects of Genetics research.
Mustafa A. Salih combines subjects such as Molecular biology, Retinitis pigmentosa, Spinocerebellar ataxia, Ciliogenesis and Senior–Løken syndrome with his study of Mutation.
In general Exome sequencing, his work in Exome is often linked to Mitochondrial fission factor linking many areas of study.
His Candidate gene study integrates concerns from other disciplines, such as Genome, Copy-number variation, Mitochondrial encephalomyopathy and Mitochondrial disease.
His study on CYP2U1 and Chromosome is often connected to Myotubularin and Dual-specificity phosphatase as part of broader study in Gene.
His most cited work include:
- Mutation of TDP1, encoding a topoisomerase I-dependent DNA damage repair enzyme, in spinocerebellar ataxia with axonal neuropathy. (407 citations)
- Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2 (393 citations)
- Mutations in a human ROBO gene disrupt hindbrain axon pathway crossing and morphogenesis (290 citations)
What are the main themes of his work throughout his whole career to date?
Mustafa A. Salih mainly focuses on Genetics, Pediatrics, Pathology, Phenotype and Exome sequencing.
Gene, Mutation, Exome, Candidate gene and Genetic heterogeneity are the primary areas of interest in his Genetics study.
His Mutation study frequently links to adjacent areas such as Molecular biology.
The concepts of his Pediatrics study are interwoven with issues in Stroke, Surgery, Disease and Epilepsy.
His Pathology research is multidisciplinary, incorporating elements of Ataxia and Muscular dystrophy.
His Exome sequencing research incorporates elements of Sanger sequencing and Missense mutation.
He most often published in these fields:
- Genetics (28.77%)
- Pediatrics (19.65%)
- Pathology (12.98%)
What were the highlights of his more recent work (between 2018-2021)?
- Genetics (28.77%)
- Pediatrics (19.65%)
- Exome sequencing (9.47%)
In recent papers he was focusing on the following fields of study:
The scientist’s investigation covers issues in Genetics, Pediatrics, Exome sequencing, Pathology and Disease.
Allele, Mendelian inheritance, Protein isoform, Primordial dwarfism and Rett syndrome are the subjects of his Genetics studies.
His Allele research incorporates themes from Mutation, Exome, Zebrafish, Microcephaly and Candidate gene.
His study explores the link between Pediatrics and topics such as Epilepsy that cross with problems in Electroencephalography.
The various areas that Mustafa A. Salih examines in his Exome sequencing study include Sanger sequencing, Missense mutation, Cerebellar ataxia and Lissencephaly.
His study in Pathology is interdisciplinary in nature, drawing from both White matter, Hydrocephalus, Polymicrogyria, Joubert syndrome and Muscle weakness.
Between 2018 and 2021, his most popular works were:
- Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population (70 citations)
- Autozygome and high throughput confirmation of disease genes candidacy. (40 citations)
- Genomic and phenotypic delineation of congenital microcephaly. (31 citations)
In his most recent research, the most cited papers focused on:
- Mutation
- Gene
- Internal medicine
His primary scientific interests are in Exome sequencing, Genetics, Candidate gene, Allele and Pediatrics.
The Exome sequencing study combines topics in areas such as White matter, Joubert syndrome, Polymicrogyria and Lissencephaly.
His studies in Candidate gene integrate themes in fields like Phenotype, Ciliopathies, Genomics, Exome and Computational biology.
Phenotype is a subfield of Gene that he explores.
His Allele study combines topics from a wide range of disciplines, such as Mutation, Missense mutation, Zebrafish, Microcephaly and Gene isoform.
His Pediatrics research is multidisciplinary, incorporating perspectives in Infantile neuroaxonal dystrophy, Natural history, Spastic, Hypertonia and Hyperreflexia.
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