His primary scientific interests are in Genetics, Gene, Mutation, Exome sequencing and Germline mutation. His research combines Odds ratio and Genetics. In his study, GATA2, Autosomal dominant trait, MonoMAC and GATA2 Deficiency is strongly linked to Immunology, which falls under the umbrella field of Mutation.
His Exome sequencing research is multidisciplinary, incorporating perspectives in Genetic disorder and Mitochondrial disease. His Germline mutation research also works with subjects such as
His primary areas of study are Genetics, Gene, Exome sequencing, Molecular biology and Internal medicine. His study in Single-nucleotide polymorphism, Mutation, Mutation, Gene mapping and Chromosome is done as part of Genetics. The various areas that Mauro Santibanez-Koref examines in his Mutation study include Immunology and Mitochondrial DNA.
His Exome sequencing study combines topics from a wide range of disciplines, such as Ataxia, Compound heterozygosity and Pathology. His studies deal with areas such as DNA, Gene expression and Allele as well as Molecular biology. His research investigates the connection between Exon and topics such as Li–Fraumeni syndrome that intersect with problems in Cancer research.
Mauro Santibanez-Koref spends much of his time researching Microsatellite instability, Computational biology, DNA mismatch repair, Genetics and Cell biology. His Microsatellite instability study integrates concerns from other disciplines, such as Genetic counseling and Lynch syndrome. His research in Computational biology tackles topics such as Concordance which are related to areas like Cohort, Sequence alignment, Genomics and Molecular genetics.
In his study, Protein aggregation, Mutant and DNA is inextricably linked to Allele, which falls within the broad field of DNA mismatch repair. When carried out as part of a general Genetics research project, his work on Missense mutation, Exome sequencing and Genome wide linkage is frequently linked to work in Association and Vesicoureteric reflux, therefore connecting diverse disciplines of study. His Cell biology research is multidisciplinary, relying on both Retinal, Induced pluripotent stem cell and Exon.
The scientist’s investigation covers issues in Cell biology, Exon, Allele, Exome sequencing and Genetics. His Cell biology research includes themes of DNA microarray and microRNA, Gene, Gene isoform. His studies in Exon integrate themes in fields like Transcriptome, RNA splicing, Retina and PAX6.
His biological study spans a wide range of topics, including Transcription, Lynch syndrome, PMS2 and Bioinformatics. The concepts of his Exome sequencing study are interwoven with issues in Tetralogy of Fallot and Genetic variation.
This overview was generated by a machine learning system which analysed the scientist’s body of work. If you have any feedback, you can contact us here.
Prevalence and diversity of constitutional mutations in the p53 gene among 21 Li-Fraumeni families.
Birch Jm;Hartley Al;Tricker Kj;Prosser J.
Cancer Research (1994)
Early-onset lymphoproliferation and autoimmunity caused by germline STAT3 gain-of-function mutations
Joshua D. Milner;Tiphanie P. Vogel;Lisa Forbes;Chi A. Ma.
Exome sequencing identifies GATA-2 mutation as the cause of dendritic cell, monocyte, B and NK lymphoid deficiency
Rachel Emma Dickinson;Helen Griffin;Venetia Bigley;Louise N. Reynard.
Universal heteroplasmy of human mitochondrial DNA
Brendan A.I. Payne;Ian J. Wilson;Patrick Yu-Wai-Man;Jonathan Coxhead.
Human Molecular Genetics (2013)
Germ-Line Mutations of TP53 in Li-Fraumeni Families: An Extended Study of 39 Families
J. M. Varley;G. Mcgown;M. Thorncroft;M. F. Santibanez-Koref.
Cancer Research (1997)
Use of Whole-Exome Sequencing to Determine the Genetic Basis of Multiple Mitochondrial Respiratory Chain Complex Deficiencies
Robert W. Taylor;Angela Pyle;Helen Griffin;Emma L. Blakely.
Contribution of Global Rare Copy-Number Variants to the Risk of Sporadic Congenital Heart Disease
Rachel Soemedi;Ian J. Wilson;Jamie Bentham;Rebecca Darlay.
American Journal of Human Genetics (2012)
O6‐alkylguanine‐DNA alkyltransferase: Role in carcinogenesis and chemotherapy
Geoffrey P. Margison;Mauro F. Santibáñez-Koref.
Mitochondrial aging is accelerated by anti-retroviral therapy through the clonal expansion of mtDNA mutations
Brendan A I Payne;Brendan A I Payne;Ian J Wilson;Charlotte A Hateley;Rita Horvath.
Nature Genetics (2011)
Circular RNA enrichment in platelets is a signature of transcriptome degradation
Abd A. Alhasan;Osagie G. Izuogu;Haya H. Al-Balool;Jannetta S. Steyn.
If you think any of the details on this page are incorrect, let us know.
We appreciate your kind effort to assist us to improve this page, it would be helpful providing us with as much detail as possible in the text box below: