What is he best known for?
The fields of study he is best known for:
His primary scientific interests are in Genetics, Exome sequencing, Exome, Consanguinity and Mutation.
His research in Candidate gene, Phenotype, Genetic heterogeneity, Ciliopathy and Gene are components of Genetics.
His Exome sequencing research is multidisciplinary, incorporating elements of Mutation, Allele, Molecular genetics, Sequence analysis and Mendelian inheritance.
His work deals with themes such as Ichthyosis, LRBA, Microcephaly, Severe combined immunodeficiency and Haplotype, which intersect with Exome.
His Consanguinity study also includes fields such as
- Disease gene identification that connect with fields like Medical genetics,
- Genetic testing which connect with Population study.
The various areas that Fowzan S. Alkuraya examines in his Mutation study include Dwarfism, Molecular biology, Disease and Zebrafish.
His most cited work include:
- Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families. (247 citations)
- Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families. (247 citations)
- New loci associated with birth weight identify genetic links between intrauterine growth and adult height and metabolism. (238 citations)
What are the main themes of his work throughout his whole career to date?
Fowzan S. Alkuraya spends much of his time researching Genetics, Exome sequencing, Phenotype, Mutation and Exome.
His study in Genetics concentrates on Gene, Genetic heterogeneity, Missense mutation, Consanguinity and Candidate gene.
His research in Genetic heterogeneity intersects with topics in Ciliopathy and Human genetics.
His Exome sequencing research is multidisciplinary, relying on both Bioinformatics, Disease, Microcephaly, Locus and Mendelian inheritance.
His work in Phenotype is not limited to one particular discipline; it also encompasses Intellectual disability.
Exome and Allele are commonly linked in his work.
He most often published in these fields:
- Genetics (84.29%)
- Exome sequencing (32.19%)
- Phenotype (29.70%)
What were the highlights of his more recent work (between 2018-2021)?
- Genetics (84.29%)
- Phenotype (29.70%)
- Exome sequencing (32.19%)
In recent papers he was focusing on the following fields of study:
His main research concerns Genetics, Phenotype, Exome sequencing, Gene and Intellectual disability.
His work in Missense mutation, Mendelian inheritance, Microcephaly, Mutation and Allele are all subfields of Genetics research.
The study incorporates disciplines such as Cilium and Cohort in addition to Phenotype.
He has researched Exome sequencing in several fields, including Candidate gene, Genetic heterogeneity, Human genetics and Short stature.
His research integrates issues of Bioinformatics, Global developmental delay, Disease, Pediatrics and Epilepsy in his study of Intellectual disability.
The Disease study combines topics in areas such as Human Phenotype Ontology and Computational biology.
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)
- 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)
In his most recent research, the most cited papers focused on:
Fowzan S. Alkuraya mainly investigates Genetics, Exome sequencing, Phenotype, Gene and Allele.
His work on Genetics deals in particular with Missense mutation, Mendelian inheritance, Human genetics, Mutation and TRNA modification.
Particularly relevant to Exome is his body of work in Exome sequencing.
His research investigates the connection between Exome and topics such as Candidate gene that intersect with problems in Genomics and CENPF.
Fowzan S. Alkuraya focuses mostly in the field of Phenotype, narrowing it down to topics relating to Cilium and, in certain cases, Computational biology.
Fowzan S. Alkuraya has included themes like Speech delay and Cerebellar atrophy in his Gene study.
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