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Federico Zara

Federico Zara

D-Index & Metrics

Neuroscience

D-Index
84
Citations
28153
World Ranking
1382
National Ranking
55

Genetics

D-Index
80
Citations
26054
World Ranking
1573
National Ranking
27

Overview

Federico Zara is affiliated with the University of Genoa in Italy and has contributed extensively to research in biochemistry, genetics, and molecular biology, as well as medicine. Their work spans various subfields including genetics, molecular biology, neurology, pulmonary and respiratory medicine, and psychiatry and mental health.

Their research topics focus primarily on genetics and neurodevelopmental disorders, genomics and rare diseases, and epilepsy research and treatment. Other areas of interest include cystic fibrosis research advances, mitochondrial function and pathology, ion channel regulation and function, and cellular transport and secretion.

Federico Zara has published in several scientific venues. Frequent publication venues include:

  • bioRxiv (Cold Spring Harbor Laboratory)
  • Brain
  • International Journal of Molecular Sciences
  • Epilepsia
  • The American Journal of Human Genetics

Among their recent papers are the following, which highlight some of the focal points of their research:

  • Genotype-phenotype correlations in SCN8A -related disorders reveal prognostic and therapeutic implications, 2021, Brain
  • Assessing the landscape of STXBP1-related disorders in 534 individuals, 2021, Brain
  • KCNT1-related epilepsies and epileptic encephalopathies: phenotypic and mutational spectrum, 2021, Brain
  • Climate change and epilepsy: Insights from clinical and basic science studies, 2021, Epilepsy & Behavior
  • Partial Rescue of F508del-CFTR Stability and Trafficking Defects by Double Corrector Treatment, 2021, International Journal of Molecular Sciences

Their frequent co-authors include Pasquale Striano, Marcello Scala, Michele Iacomino, Valeria Capra, and Antonella Riva, indicating collaborative efforts in related scientific areas.

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

  • 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

  • Mapping the human genetic architecture of COVID-19

    Unknown

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

    Carlo Minetti;Federica Sotgia;Claudio Bruno;Claudio Bruno;Paolo Scartezzini

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

    Markus Wolff;Katrine M Johannesen;Ulrike B S Hedrich;Silvia Masnada

  • 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

  • The genetics of Dravet syndrome

    Carla Marini;Ingrid E. Scheffer;Ingrid E. Scheffer;Rima Nabbout;Arvid Suls

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

    Samuel F. Berkovic;Sarah E. Heron;Lucio Giordano;Carla Marini

  • De novo loss-or gain-of-function mutations in KCNA2 cause epileptic encephalopathy

    Steffen Syrbe;Ulrike B.S. Hedrich;Erik Riesch;Tania Djémié

  • Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy

    Rima Nabbout;E. Gennaro;B. Dalla Bernardina;O. Dulac

  • De novo variants in neurodevelopmental disorders with epilepsy.

    Henrike O. Heyne;Tarjinder Singh;Tarjinder Singh;Hannah Stamberger;Rami Abou Jamra

  • Genetic determinants of common epilepsies: a meta-analysis of genome-wide association studies

    Richard Anney;A. Avbersek;D. Balding;L. Baum

  • De Novo Loss-of-Function Mutations in CHD2 Cause a Fever-Sensitive Myoclonic Epileptic Encephalopathy Sharing Features with Dravet Syndrome

    Arvid Suls;Johanna A. Jaehn;Angela Kecskés;Yvonne Weber

  • De novo mutations in HCN1 cause early infantile epileptic encephalopathy

    Caroline Nava;Carine Dalle;Agnès Rastetter;Pasquale Striano

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

    Mainardi Pc;Perfumo C;Calì A;Coucourde G

  • AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

    Vincenzo Salpietro;Vincenzo Salpietro;Vincenzo Salpietro;Christine L Dixon;Hui Guo;Hui Guo;Oscar D Bello

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

    Ruth Ottman;Shinichi Hirose;Satish Jain;Holger Lerche

  • Genome search for susceptibility loci of common idiopathic generalised epilepsies

    Thomas Sander;Herbert Schulz;Kathrin Saar;Elena Gennaro

  • Mutation in the CAV3 gene causes partial caveolin-3 deficiency and hyperCKemia.

    I. Carbone;C. Bruno;F. Sotgia;M. Bado

  • SCN1A duplications and deletions detected in Dravet syndrome: Implications for molecular diagnosis

    Carla Marini;Ingrid E. Scheffer;Ingrid E. Scheffer;Rima Nabbout;Davide Mei

  • Erratum: De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies (American Journal of Human Genetics (2014) 95(4) (360–370)(S0002929714003838)(10.1016/j.ajhg.2014.08.013))

    Silke Appenzeller;Rudi Balling;Nina Barisic;Stéphanie Baulac

Frequent Co-Authors

Pasquale Striano
Pasquale Striano University of Genoa
Carlo Minetti
Carlo Minetti University of Genoa
Salvatore Striano
Salvatore Striano University of Naples Federico II
Renzo Guerrini
Renzo Guerrini University of Florence
Ingo Helbig
Ingo Helbig Children's Hospital of Philadelphia
Ingrid E. Scheffer
Ingrid E. Scheffer University of Melbourne
Carla Marini
Carla Marini University of Florence
Claudio Bruno
Claudio Bruno Istituto Giannina Gaslini
Rikke S. Møller
Rikke S. Møller University of Southern Denmark
Holger Lerche
Holger Lerche University of Tübingen

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