What is he best known for?
The fields of study he is best known for:
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
- Germline and related Proband,
- P53 Mutation that connect with fields like Cancer research.
As part of the same scientific family, Mauro Santibanez-Koref usually focuses on Li–Fraumeni syndrome, concentrating on Exon and intersecting with Missense mutation, Nonsense mutation, Intron, Breast cancer and Asymptomatic carrier.
His most cited work include:
- Prevalence and diversity of constitutional mutations in the p53 gene among 21 Li-Fraumeni families. (452 citations)
- Exome sequencing identifies GATA-2 mutation as the cause of dendritic cell, monocyte, B and NK lymphoid deficiency (303 citations)
- Early-onset lymphoproliferation and autoimmunity caused by germline STAT3 gain-of-function mutations (275 citations)
What are the main themes of his work throughout his whole career to date?
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.
He most often published in these fields:
- Genetics (49.66%)
- Gene (20.13%)
- Exome sequencing (12.08%)
What were the highlights of his more recent work (between 2017-2021)?
- Microsatellite instability (6.04%)
- Computational biology (8.72%)
- DNA mismatch repair (4.03%)
In recent papers he was focusing on the following fields of study:
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.
Between 2017 and 2021, his most popular works were:
- Whole Exome Sequencing Reveals the Major Genetic Contributors to Nonsyndromic Tetralogy of Fallot. (41 citations)
- A slipped-CAG DNA-binding small molecule induces trinucleotide-repeat contractions in vivo. (33 citations)
- An integrated transcriptional analysis of the developing human retina. (33 citations)
In his most recent research, the most cited papers focused on:
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.
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