What is he best known for?
The fields of study he is best known for:
Orsetta Zuffardi spends much of his time researching Genetics, Chromosome, Gene, Molecular biology and Breakpoint.
Genetics is a component of his Haploinsufficiency, Phenotype, Chromosomal inversion, Chromosome breakage and Gene duplication studies.
Orsetta Zuffardi has included themes like Epilepsy, Anatomy and Chromosomal translocation in his Chromosome breakage study.
His study in Chromosome is interdisciplinary in nature, drawing from both Gene rearrangement, Y chromosome and X chromosome.
His Molecular biology research is multidisciplinary, relying on both Mutation, Missense mutation, In situ hybridization, Bone marrow and Derivative chromosome.
His research integrates issues of Angelman syndrome, 22q13 deletion syndrome and Genome in his study of Breakpoint.
His most cited work include:
- Localization of factors controlling spermatogenesis in the nonfluorescent portion of the human Y chromosome long arm. (827 citations)
- Human bone marrow derived mesenchymal stem cells do not undergo transformation after long-term in vitro culture and do not exhibit telomere maintenance mechanisms. (608 citations)
- A dosage sensitive locus at chromosome Xp21 is involved in male to female sex reversal (569 citations)
What are the main themes of his work throughout his whole career to date?
His main research concerns Genetics, Chromosomal translocation, Chromosome, Gene and Molecular biology.
His study in Gene duplication, Breakpoint, Karyotype, Phenotype and X chromosome is carried out as part of his Genetics studies.
His Breakpoint research is multidisciplinary, incorporating perspectives in Chromosome breakage and Haploinsufficiency.
His Karyotype study incorporates themes from Internal medicine and Cytogenetics.
He combines subjects such as Trisomy and Human genetics with his study of Chromosomal translocation.
The concepts of his Molecular biology study are interwoven with issues in Mutation, Centromere and Y chromosome.
He most often published in these fields:
- Genetics (60.24%)
- Chromosomal translocation (18.55%)
- Chromosome (17.83%)
What were the highlights of his more recent work (between 2013-2021)?
- Genetics (60.24%)
- Gene duplication (13.98%)
- Bioinformatics (7.71%)
In recent papers he was focusing on the following fields of study:
His scientific interests lie mostly in Genetics, Gene duplication, Bioinformatics, Intellectual disability and Pathology.
His is doing research in Gene, Comparative genomic hybridization, Haploinsufficiency, Chromosome and Chromosomal translocation, both of which are found in Genetics.
His Dicentric chromosome study in the realm of Chromosome interacts with subjects such as Chromothripsis.
His work carried out in the field of Gene duplication brings together such families of science as Copy-number variation, Testis determining factor, Breakpoint, Sanger sequencing and Candidate gene.
His Testis determining factor research includes themes of X chromosome and Karyotype.
His work in Intellectual disability tackles topics such as Pediatrics which are related to areas like Epilepsy.
Between 2013 and 2021, his most popular works were:
- Formation of new chromatin domains determines pathogenicity of genomic duplications (353 citations)
- Constitutive Activation of PKA Catalytic Subunit in Adrenal Cushing's Syndrome (246 citations)
- Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes (95 citations)
In his most recent research, the most cited papers focused on:
His primary areas of study are Genetics, Bioinformatics, Gene, Mutation and Gene duplication.
Genetics and Autism spectrum disorder are commonly linked in his work.
He has researched Bioinformatics in several fields, including Chromosome 3, Comparative genomic hybridization and Intellectual disability.
His study focuses on the intersection of Mutation and fields such as Molecular biology with connections in the field of Frameshift mutation, Wnt signaling pathway and RHOA.
His Gene duplication research is multidisciplinary, incorporating elements of Chromosomal translocation, Testis determining factor, Chromosome conformation capture, Hypotonia and Sex reversal.
His Testis determining factor study combines topics in areas such as Chromosome, Breakpoint, Disorders of sex development and X chromosome.
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