D-Index & Metrics Best Publications
Neuroscience
Italy
2023

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
Neuroscience D-index 66 Citations 15,724 293 World Ranking 1736 National Ranking 64
Genetics D-index 62 Citations 15,195 259 World Ranking 2159 National Ranking 36

Research.com Recognitions

Awards & Achievements

2023 - Research.com Neuroscience in Italy Leader Award

Overview

What is he best known for?

The fields of study he is best known for:

  • Gene
  • Mutation
  • Internal medicine

Federico Zara mainly investigates Epilepsy, Genetics, Mutation, Myoclonic epilepsy and Dravet syndrome. His biological study spans a wide range of topics, including Central nervous system disease, Pediatrics, Bioinformatics and Age of onset. Genetics connects with themes related to Juvenile myoclonic epilepsy in his study.

His Mutation research incorporates elements of Infantile seizures, Paroxysmal dyskinesia, Intellectual disability and Endocrinology. As a member of one scientific family, Federico Zara mostly works in the field of Genetic linkage, focusing on Gene mapping and, on occasion, Autosomal recessive cerebellar ataxia, Ataxia and Molecular biology. He combines subjects such as Point mutation and Breakpoint with his study of Locus.

His most cited work include:

  • Friedreich's Ataxia: Autosomal Recessive Disease Caused by an Intronic GAA Triplet Repeat Expansion (2181 citations)
  • Analysis of shared heritability in common disorders of the brain (726 citations)
  • Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy. (493 citations)

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

Federico Zara spends much of his time researching Epilepsy, Genetics, Pediatrics, Mutation and Internal medicine. His Epilepsy research includes themes of Electroencephalography, Myoclonus and Bioinformatics. His studies deal with areas such as Benign adult familial myoclonic epilepsy and Neurological disorder as well as Myoclonus.

His research in Missense mutation, Phenotype, Gene, Locus and Genetic heterogeneity are components of Genetics. His Pediatrics research is multidisciplinary, incorporating elements of Psychiatry and Age of onset. His Internal medicine study combines topics from a wide range of disciplines, such as Gastroenterology and Endocrinology.

He most often published in these fields:

  • Epilepsy (51.53%)
  • Genetics (39.57%)
  • Pediatrics (15.64%)

What were the highlights of his more recent work (between 2018-2021)?

  • Epilepsy (51.53%)
  • Genetics (39.57%)
  • Phenotype (10.43%)

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

His scientific interests lie mostly in Epilepsy, Genetics, Phenotype, Missense mutation and Bioinformatics. His research integrates issues of Internal medicine, Cohort and Pediatrics in his study of Epilepsy. As part of the same scientific family, he usually focuses on Phenotype, concentrating on Sodium channel blocker and intersecting with Benign familial infantile epilepsy.

His studies examine the connections between Missense mutation and genetics, as well as such issues in Genetic testing, with regards to Genetic heterogeneity. His Bioinformatics research integrates issues from Lamotrigine, Mutation, Duchenne muscular dystrophy, Parkinsonism and Drug resistance. Federico Zara works mostly in the field of Pathology, limiting it down to concerns involving Mutation and, occasionally, Ataxia.

Between 2018 and 2021, his most popular works were:

  • AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders (40 citations)
  • Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2 (35 citations)
  • Microbiota-gut brain axis involvement in neuropsychiatric disorders (35 citations)

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

  • Gene
  • Mutation
  • Internal medicine

Federico Zara mostly deals with Epilepsy, Bioinformatics, Neuroscience, Phenotype and Pediatrics. He interconnects Internal medicine, Cohort and Autism spectrum disorder in the investigation of issues within Epilepsy. In the subject of general Phenotype, his work in Missense mutation and Conditional gene knockout is often linked to Synaptic vesicle recycling, thereby combining diverse domains of study.

The various areas that Federico Zara examines in his Pediatrics study include Lamotrigine, Ataxia, Levetiracetam and Electroencephalography. His Intron research entails a greater understanding of Genetics. His research in Genetics intersects with topics in Comorbidity and Myoclonic epilepsy.

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

Friedreich's Ataxia: Autosomal Recessive Disease Caused by an Intronic GAA Triplet Repeat Expansion

Victoria Campuzano;Laura Montermini;Maria Dolores Moltò;Luigi Pianese.
Science (1996)

3056 Citations

Analysis of shared heritability in common disorders of the brain

Verneri Anttila;Verneri Anttila;Brendan Bulik-Sullivan;Brendan Bulik-Sullivan;Hilary K. Finucane;Raymond K. Walters;Raymond K. Walters.
Science (2018)

1200 Citations

Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy.

Carlo Minetti;Federica Sotgia;Claudio Bruno;Claudio Bruno;Paolo Scartezzini.
Nature Genetics (1998)

719 Citations

Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders.

Markus Wolff;Katrine M Johannesen;Ulrike B S Hedrich;Silvia Masnada.
Brain (2017)

357 Citations

The genetics of Dravet syndrome

Carla Marini;Ingrid E. Scheffer;Ingrid E. Scheffer;Rima Nabbout;Arvid Suls.
Epilepsia (2011)

341 Citations

Benign familial neonatal-infantile seizures: characterization of a new sodium channelopathy.

Samuel F. Berkovic;Sarah E. Heron;Lucio Giordano;Carla Marini.
Annals of Neurology (2004)

341 Citations

Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy

Rima Nabbout;E. Gennaro;B. Dalla Bernardina;O. Dulac.
Neurology (2003)

316 Citations

Clinical and molecular characterisation of 80 patients with 5p deletion: genotype-phenotype correlation

Mainardi Pc;Perfumo C;Calì A;Coucourde G.
Journal of Medical Genetics (2001)

243 Citations

Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies

Bassel Abou-Khalil;Pauls Auce;Andreja Avbersek;Melanie Bahlo.
Nature Communications (2018)

229 Citations

Genetic testing in the epilepsies--report of the ILAE Genetics Commission.

Ruth Ottman;Shinichi Hirose;Satish Jain;Holger Lerche.
web science (2010)

227 Citations

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