What is she best known for?
The fields of study she is best known for:
Her scientific interests lie mostly in Genetics, Internal medicine, Proto-Oncogene Proteins c-ret, Missense mutation and Immunology.
Her Genetics study frequently links to related topics such as Hirschsprung's disease.
Her Internal medicine study combines topics in areas such as Gastroenterology and Endocrinology.
Her Proto-Oncogene Proteins c-ret research integrates issues from Semaphorin, SEMA3A and Loss function.
The Immunology study combines topics in areas such as Familial Mediterranean fever, Pharyngitis and Genetic testing.
Her work deals with themes such as Locus heterogeneity, RET proto-oncogene and Exon, which intersect with Point mutation.
Her most cited work include:
- Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition) (4170 citations)
- A mutation in the RET proto-oncogene associated with multiple endocrine neoplasia type 2B and sporadic medullary thyroid carcinoma (971 citations)
- SOX10 mutations in patients with Waardenburg-Hirschsprung disease. (684 citations)
What are the main themes of her work throughout her whole career to date?
Her primary areas of study are Genetics, Internal medicine, Gene, Molecular biology and Immunology.
Genetics is represented through her Allele, Exon, RET proto-oncogene, Proto-Oncogene Proteins c-ret and Phenotype research.
As a member of one scientific family, Isabella Ceccherini mostly works in the field of Internal medicine, focusing on Endocrinology and, on occasion, Multiple endocrine neoplasia type 2.
Her study ties her expertise on Cancer research together with the subject of Gene.
Isabella Ceccherini has researched Immunology in several fields, including Familial Mediterranean fever, Anakinra and MEFV.
Her work on Hirschsprung's disease as part of general Disease research is frequently linked to Congenital central hypoventilation syndrome, bridging the gap between disciplines.
She most often published in these fields:
- Genetics (32.99%)
- Internal medicine (23.13%)
- Gene (21.77%)
What were the highlights of her more recent work (between 2017-2021)?
- Immunology (13.95%)
- Internal medicine (23.13%)
- Genetics (32.99%)
In recent papers she was focusing on the following fields of study:
Her primary scientific interests are in Immunology, Internal medicine, Genetics, Disease and Pediatrics.
Her research in Immunology focuses on subjects like Autoimmune lymphoproliferative syndrome, which are connected to Mutation and Phenotype.
Her Internal medicine research focuses on Gastroenterology and how it relates to Total colonic aganglionosis.
Her study in the field of Missense mutation and Frameshift mutation is also linked to topics like Congenital central hypoventilation syndrome and Structural variation.
Her Disease research includes themes of Abscess and Human genetics.
Isabella Ceccherini works mostly in the field of Immune dysregulation, limiting it down to topics relating to Autoimmunity and, in certain cases, Fas receptor, Programmed cell death and Compound heterozygosity.
Between 2017 and 2021, her most popular works were:
- Classification criteria for autoinflammatory recurrent fevers (88 citations)
- New workflow for classification of genetic variants' pathogenicity applied to hereditary recurrent fevers by the International Study Group for Systemic Autoinflammatory Diseases (INSAID) (59 citations)
- Next generation sequencing panel in undifferentiated autoinflammatory diseases identifies patients with colchicine-responder recurrent fevers. (17 citations)
In her most recent research, the most cited papers focused on:
Isabella Ceccherini mainly investigates Disease, Congenital central hypoventilation syndrome, Genetics, Internal medicine and Immunology.
Her research in Disease intersects with topics in Sanger sequencing, Prenatal diagnosis, Genotype and Bioinformatics.
Her work on Genetics is being expanded to include thematically relevant topics such as Sudden infant death syndrome.
Her work in the fields of Internal medicine, such as Recurrent fever, Periodic fever and Periodic fever syndrome, overlaps with other areas such as Statistical analysis and Independent data.
Her work carried out in the field of Immunology brings together such families of science as Cell and Stem cell.
Her Neurocristopathy study integrates concerns from other disciplines, such as Homeobox, Nuclear receptor, Transcription factor and Pathogenesis.
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