Alfredo Brusco

Alfredo Brusco publication distribution in Genetics in 2026

The chart shows the distribution of publications by all Research.com ranked scientists in the field of Genetics in 2026. The highlighted bar marks where Alfredo Brusco sits on this spectrum.

Alfredo Brusco D-index placement in Genetics in 2026

The chart shows the D-index (discipline H-index) distribution of Genetics scientists ranked by Research.com in 2026. The highlighted bar marks where Alfredo Brusco sits on this spectrum.

Overview

Best Publications

• Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism

  F. Kyle Satterstrom;F. Kyle Satterstrom;Jack A. Kosmicki;Jiebiao Wang;Michael S. Breen

  2295
  Citations

• Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism

  F. Kyle Satterstrom;Jack A. Kosmicki;Jiebiao Wang;Michael S Breen;Michael S Breen

  540
  Citations

• NT5E mutations and arterial calcifications.

  Cynthia St. Hilaire;Shira G. Ziegler;Thomas C. Markello;Alfredo Brusco

  470
  Citations

• Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28

  Daniela Di Bella;Federico Lazzaro;Alfredo Brusco;Massimo Plumari

  365
  Citations

• COL4A3/COL4A4 mutations: from familial hematuria to autosomal-dominant or recessive Alport syndrome.

  Ilaria Longo;Paola Porcedda;Francesca Mari;Daniela Giachino

  282
  Citations

• Mutations in Ribosomal Protein S19 Gene and Diamond Blackfan Anemia: Wide Variations in Phenotypic Expression

  Thiébaut-Noël Willig;Natalia Draptchinskaia;Irma Dianzani;Sarah Ball

  275
  Citations

• ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population.

  Elisa Benetti;Rossella Tita;Ottavia Spiga;Andrea Ciolfi

  268
  Citations

• 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

  244
  Citations

• Molecular Mechanisms Generating and Stabilizing Terminal 22q13 Deletions in 44 Subjects with Phelan/McDermid Syndrome.

  Maria Clara Bonaglia;Roberto Giorda;Silvana Beri;Cristina De Agostini

  202
  Citations

• Modulation of the age at onset in spinocerebellar ataxia by CAG tracts in various genes

  Sophie Tezenas Du Montcel;Sophie Tezenas Du Montcel;Alexandra Durr;Peter Bauer;Karla P. Figueroa

  194
  Citations

• Molecular genetics of hereditary spinocerebellar ataxia: mutation analysis of spinocerebellar ataxia genes and CAG/CTG repeat expansion detection in 225 Italian families.

  Alfredo Brusco;Cinzia Gellera;Claudia Cagnoli;Alessandro Saluto

  193
  Citations

• Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy

  Stephan Klebe;Christel Depienne;Sylvie Gerber;Georges Challe

  184
  Citations

• CGG repeat length correlates with age of onset of motor signs of the fragile X-associated tremor/ataxia syndrome (FXTAS).

  Flora Tassone;John Adams;Elizabeth M. Berry-Kravis;Susannah S. Cohen

  183
  Citations

• A large genomic deletion leads to enhancer adoption by the lamin B1 gene: a second path to autosomal dominant adult-onset demyelinating leukodystrophy (ADLD)

  Elisa Giorgio;Daniel Robyr;Malte Spielmann;Enza Ferrero

  160
  Citations

• SCA28, a novel form of autosomal dominant cerebellar ataxia on chromosome 18p11.22-q11.2

  Claudia Cagnoli;Caterina Mariotti;Franco Taroni;Marco Seri

  156
  Citations

• ELOVL5 mutations cause spinocerebellar ataxia 38.

  Eleonora Di Gregorio;Barbara Borroni;Elisa Giorgio;Daniela Lacerenza

  138
  Citations

• An Enhanced Polymerase Chain Reaction Assay to Detect Pre- and Full Mutation Alleles of the Fragile X Mental Retardation 1 Gene

  Alessandro Saluto;Alessandro Brussino;Flora Tassone;Carlo Arduino

  132
  Citations

• A Recurrent Mutation in CACNA1G Alters Cav3.1 T-Type Calcium-Channel Conduction and Causes Autosomal-Dominant Cerebellar Ataxia

  Marie M Coutelier;Iulia I Blesneac;Arnaud A Monteil;Marie Lorraine M.L. Monin

  111
  Citations

• Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias.

  Claudia Cagnoli;Giovanni Stevanin;Alessandro Brussino;Marco Barberis

  89
  Citations

• Complexity of the Genetics and Clinical Presentation of Spinocerebellar Ataxia 17.

  Suran Nethisinghe;Wei N. Lim;Heather Ging;Anna Zeitlberger

  19
  Citations