D-Index & Metrics Best Publications

D-Index & Metrics D-index (Discipline H-index) only includes papers and citation values for an examined discipline in contrast to General H-index which accounts for publications across all disciplines.

Discipline name D-index D-index (Discipline H-index) only includes papers and citation values for an examined discipline in contrast to General H-index which accounts for publications across all disciplines. Citations Publications World Ranking National Ranking
Genetics D-index 48 Citations 9,721 99 World Ranking 3286 National Ranking 65

Overview

What is he best known for?

The fields of study he is best known for:

  • Gene
  • Mutation
  • Genetics

Francesco Brancati focuses on Genetics, Joubert syndrome, Mutation, Ciliopathies and Cilium. In his works, Francesco Brancati conducts interdisciplinary research on Genetics and Macrodontia. The various areas that Francesco Brancati examines in his Joubert syndrome study include TMEM67, Nephronophthisis, Ataxia and RPGRIP1L.

Francesco Brancati has included themes like Ciliary transition zone and Consanguinity in his RPGRIP1L study. The concepts of his Mutation study are interwoven with issues in Gerodermia osteodysplastica, Ankyrin repeat, Craniofacial and Short stature. In his research, Molecular biology and Kinase is intimately related to INPP5E, which falls under the overarching field of Cilium.

His most cited work include:

  • Disruptions of Topological Chromatin Domains Cause Pathogenic Rewiring of Gene-Enhancer Interactions (1102 citations)
  • Formation of new chromatin domains determines pathogenicity of genomic duplications (353 citations)
  • Mutations in CEP290 , which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome (316 citations)

What are the main themes of his work throughout his whole career to date?

His primary areas of study are Genetics, Joubert syndrome, Mutation, Pathology and Phenotype. Locus, Gene, Missense mutation, Genetic heterogeneity and Genetic linkage are the primary areas of interest in his Genetics study. His work carried out in the field of Joubert syndrome brings together such families of science as TMEM67, Ciliopathies, Nephronophthisis, RPGRIP1L and Meckel syndrome.

His work on INPP5E as part of general Ciliopathies study is frequently connected to Ocular Motility Disorders, therefore bridging the gap between diverse disciplines of science and establishing a new relationship between them. He has researched Mutation in several fields, including Molecular biology and Short stature. His work deals with themes such as Human genetics and Exon, which intersect with Phenotype.

He most often published in these fields:

  • Genetics (98.03%)
  • Joubert syndrome (40.79%)
  • Mutation (40.79%)

What were the highlights of his more recent work (between 2014-2020)?

  • Genetics (98.03%)
  • Mutation (40.79%)
  • Phenotype (26.97%)

In recent papers he was focusing on the following fields of study:

Francesco Brancati spends much of his time researching Genetics, Mutation, Phenotype, Gene and Missense mutation. Francesco Brancati applies his multidisciplinary studies on Genetics and Low copy repeats in his research. His Mutation research is multidisciplinary, incorporating elements of Gene expression, Transcription factor and Transcriptional regulation.

His Phenotype study integrates concerns from other disciplines, such as Cell cycle, In silico and Human genetics. His studies deal with areas such as Magnetic resonance imaging, Neurofibromatosis type 2 and Meningioma as well as Gene. His Missense mutation research incorporates themes from DNA Mutational Analysis, Muscular dystrophy, Protein aggregation and Myopathy.

Between 2014 and 2020, his most popular works were:

  • Disruptions of Topological Chromatin Domains Cause Pathogenic Rewiring of Gene-Enhancer Interactions (1102 citations)
  • Formation of new chromatin domains determines pathogenicity of genomic duplications (353 citations)
  • Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams–Oliver Syndrome With Variable Cardiac Anomalies (59 citations)

In his most recent research, the most cited papers focused on:

  • Gene
  • Mutation
  • Genetics

Francesco Brancati mainly investigates Genetics, Phenotype, Gene, Human genetics and In silico. His work in Genetics incorporates the disciplines of Ablepharon and Acquired immune system. His multidisciplinary approach integrates Gene and ChIA-PET in his work.

His studies in Human genetics integrate themes in fields like Cell cycle, Molecular medicine and Mutant. His research integrates issues of Genome, Human genome, CRISPR, Locus and Regulation of gene expression in his study of Chromosome conformation capture. His Haploinsufficiency research includes themes of Missense mutation, Autosomal dominant trait, Notch signaling pathway and Proband.

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.

Best Publications

Disruptions of Topological Chromatin Domains Cause Pathogenic Rewiring of Gene-Enhancer Interactions

Darío G. Lupiáñez;Darío G. Lupiáñez;Katerina Kraft;Katerina Kraft;Verena Heinrich;Peter Krawitz;Peter Krawitz.
Cell (2015)

1647 Citations

Formation of new chromatin domains determines pathogenicity of genomic duplications

Martin Franke;Martin Franke;Daniel M. Ibrahim;Guillaume Andrey;Wibke Schwarzer.
Nature (2016)

530 Citations

Mutations in CEP290 , which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome

Enza Maria Valente;Jennifer L Silhavy;Francesco Brancati;Francesco Brancati;Giuseppe Barrano;Giuseppe Barrano.
Nature Genetics (2006)

494 Citations

Joubert Syndrome and related disorders

Francesco Brancati;Bruno Dallapiccola;Enza Maria Valente;Enza Maria Valente.
Orphanet Journal of Rare Diseases (2010)

436 Citations

Parkes Weber syndrome, vein of galen aneurysmal malformation, and other fast-flow vascular anomalies are caused by RASA1 mutations

Nicole Revencu;Laurence M. Boon;John B. Mulliken;Odile Enjolras.
Human Mutation (2008)

406 Citations

Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies.

Stephanie L Bielas;Jennifer L Silhavy;Francesco Brancati;Francesco Brancati;Marina V Kisseleva.
Nature Genetics (2009)

391 Citations

Mutations in the Cilia Gene ARL13B Lead to the Classical Form of Joubert Syndrome

Vincent Cantagrel;Jennifer L. Silhavy;Stephanie L. Bielas;Dominika Swistun.
American Journal of Human Genetics (2008)

370 Citations

Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes

Enza Maria Valente;Clare V Logan;Soumaya Mougou-Zerelli;Jeong Ho Lee.
Nature Genetics (2010)

294 Citations

Mutations in PYCR1 cause cutis laxa with progeroid features

Bruno Reversade;Nathalie Escande-Beillard;Aikaterini Dimopoulou;Bjorn Fischer.
Nature Genetics (2009)

249 Citations

Mutations in ANKRD11 Cause KBG Syndrome, Characterized by Intellectual Disability, Skeletal Malformations, and Macrodontia

Asli Sirmaci;Michail Spiliopoulos;Francesco Brancati;Francesco Brancati;Francesco Brancati;Eric Powell.
American Journal of Human Genetics (2011)

214 Citations

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