What is he best known for?
The fields of study he is best known for:
- Gene
- Mutation
- Internal medicine
Bruno Dallapiccola focuses on Genetics, Mutation, Internal medicine, Endocrinology and Missense mutation.
Gene, Locus, Noonan syndrome, Gene mutation and Phenotype are among the areas of Genetics where the researcher is concentrating his efforts.
The concepts of his Noonan syndrome study are interwoven with issues in RASopathy, Cardiofaciocutaneous syndrome, LEOPARD Syndrome, Noonan Syndrome with Multiple Lentigines and PTPN11.
He combines subjects such as Joubert syndrome, Mutant, Molecular biology, Allele and Ciliopathies with his study of Mutation.
In his work, RPGRIP1L is strongly intertwined with Nephronophthisis, which is a subfield of Joubert syndrome.
His Internal medicine research is multidisciplinary, relying on both Gastroenterology and Cardiology.
His most cited work include:
- Hereditary Early-Onset Parkinson's Disease Caused by Mutations in PINK1 (2554 citations)
- LDL Receptor-Related Protein 5 (LRP5) Affects Bone Accrual and Eye Development (1926 citations)
- Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study. (957 citations)
What are the main themes of his work throughout his whole career to date?
Bruno Dallapiccola mainly investigates Genetics, Internal medicine, Gene, Endocrinology and Pathology.
Genetics is closely attributed to Molecular biology in his research.
The study incorporates disciplines such as Gastroenterology and Cardiology in addition to Internal medicine.
A large part of his Gene studies is devoted to Exon.
His Locus research is multidisciplinary, incorporating elements of Genetic linkage and Haplotype.
Missense mutation and Gene mutation are the subjects of his Mutation studies.
He most often published in these fields:
- Genetics (46.09%)
- Internal medicine (22.51%)
- Gene (16.52%)
What were the highlights of his more recent work (between 2010-2021)?
- Genetics (46.09%)
- Internal medicine (22.51%)
- Intellectual disability (3.00%)
In recent papers he was focusing on the following fields of study:
His primary areas of study are Genetics, Internal medicine, Intellectual disability, Phenotype and Gene.
His study in Missense mutation, Mutation, Haploinsufficiency, Exome sequencing and Exome falls under the purview of Genetics.
His Molecular biology research extends to the thematically linked field of Missense mutation.
His research is interdisciplinary, bridging the disciplines of Pathology and Mutation.
His work carried out in the field of Internal medicine brings together such families of science as Gastroenterology, Endocrinology and Cardiology.
His research integrates issues of Craniofacial, Pediatrics, Short stature and Autism spectrum disorder in his study of Intellectual disability.
Between 2010 and 2021, his most popular works were:
- Transmembrane 6 superfamily member 2 gene variant disentangles nonalcoholic steatohepatitis from cardiovascular disease (292 citations)
- Gut microbiota profiling of pediatric nonalcoholic fatty liver disease and obese patients unveiled by an integrated meta-omics-based approach (278 citations)
- Deletion of KDM6A, a Histone Demethylase Interacting with MLL2, in Three Patients with Kabuki Syndrome (240 citations)
In his most recent research, the most cited papers focused on:
- Gene
- Mutation
- Internal medicine
Bruno Dallapiccola mostly deals with Genetics, Internal medicine, Missense mutation, Mutation and Phenotype.
His Genetics study focuses mostly on Gene, Noonan syndrome, Exome, Intellectual disability and Haploinsufficiency.
The Internal medicine study combines topics in areas such as Gastroenterology, Endocrinology and Cardiology.
Bruno Dallapiccola has included themes like Proband, Dermatology, Neurofibromatosis, Molecular biology and Truncus arteriosus in his Missense mutation study.
His Mutation study combines topics from a wide range of disciplines, such as Mutant, Short stature, Hennekam syndrome, Genetic heterogeneity and Craniofacial.
His biological study spans a wide range of topics, including Smoothened, Atrial septal defects, Intraflagellar transport, RNA splicing and Exon.
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