Guido J. Breedveld

Guido J. Breedveld 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 Guido J. Breedveld sits on this spectrum.

Guido J. Breedveld 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 Guido J. Breedveld sits on this spectrum.

Overview

Best Publications

• Mutations in the DJ-1 Gene Associated with Autosomal Recessive Early-Onset Parkinsonism

  Vincenzo Bonifati;Vincenzo Bonifati;Patrizia Rizzu;Marijke J. van Baren;Onno Schaap

  3362
  Citations

• A frequent LRRK2 gene mutation associated with autosomal dominant Parkinson's disease.

  Alessio Di Fonzo;Alessio Di Fonzo;Christan F Rohé;Joaquim Ferreira;Hsin F Chien

  663
  Citations

• Mutations in Col4a1 cause perinatal cerebral hemorrhage and porencephaly.

  Douglas B. Gould;F. Campbell Phalan;Guido J. Breedveld;Saskia E. van Mil

  614
  Citations

• Disruption of a long-range cis-acting regulator for Shh causes preaxial polydactyly.

  Laura A. Lettice;Taizo Horikoshi;Simon J. H. Heaney;Marijke J. van Baren

  554
  Citations

• PARK7, a Novel Locus for Autosomal Recessive Early-Onset Parkinsonism, on Chromosome 1p36

  C.M. van Duijn;M.C.J. Dekker;V. Bonifati;R.J. Galjaard

  512
  Citations

• FBXO7 mutations cause autosomal recessive, early-onset parkinsonian- pyramidal syndrome

  A. Di Fonzo;M.C.J. Dekker;P. Montagna;A. Baruzzi

  440
  Citations

• Mutations in SLC30A10 Cause Parkinsonism and Dystonia with Hypermanganesemia, Polycythemia, and Chronic Liver Disease

  Marialuisa Quadri;Antonio Federico;Tianna Zhao;Guido J. Breedveld

  435
  Citations

• Early-onset parkinsonism associated with PINK1 mutations Frequency, genotypes, and phenotypes

  V. Bonifati;C. F. Rohé;G. J. Breedveld;E. Fabrizio

  412
  Citations

• Mutation in the SYNJ1 gene associated with autosomal recessive, early-onset Parkinsonism.

  Marialuisa Quadri;Mingyan Fang;Marina Picillo;Simone Olgiati

  346
  Citations

• A common missense variant in the LRRK2 gene, Gly2385Arg, associated with Parkinson's disease risk in Taiwan.

  Alessio Di Fonzo;Yah Huei Wu-Chou;Chin Song Lu;Marina Van Doeselaar

  284
  Citations

• Distinct genetic forms of frontotemporal dementia.

  H. Seelaar;W. Kamphorst;S. M. Rosso;A. Azmani

  257
  Citations

• A gene subject to genomic imprinting and responsible for hereditary paragangliomas maps to chromosome 11q23-qter

  Heutink P;van der Mey Ag;Sandkuijl La;van Gils Ap

  255
  Citations

• Mutations in TITF-1 are associated with benign hereditary chorea

  Guido J. Breedveld;Jeroen W.F. van Dongen;Cesare Danesino;Andrea Guala

  227
  Citations

• The G6055A (G2019S) mutation in LRRK2 is frequent in both early and late onset Parkinson’s disease and originates from a common ancestor

  S Goldwurm;A Di Fonzo;E J Simons;C F Rohé

  225
  Citations

• Comprehensive analysis of the LRRK2 gene in sixty families with Parkinson's disease.

  Alessio Di Fonzo;Alessio Di Fonzo;Cristina Tassorelli;Michele De Mari;Hsin F Chien

  220
  Citations

• Homozygous nonsense mutations in KIAA1279 are associated with malformations of the central and enteric nervous systems.

  Alice S. Brooks;Aida M. Bertoli-Avella;Grzegorz M. Burzynski;Guido J. Breedveld

  209
  Citations

• Novel mutations in three families confirm a major role of COL4A1 in hereditary porencephaly

  G Breedveld;I F de Coo;M H Lequin;W F M Arts

  188
  Citations

• DNAJC6 Mutations Associated With Early-Onset Parkinson's Disease

  Simone Olgiati;Marialuisa Quadri;Mingyan Fang;Janneke P.M.A. Rood

  178
  Citations

• Homozygous PINK1 C-terminus mutation causing early-onset parkinsonism

  Christan F. Rohé;Pasquale Montagna;Guido Breedveld;Pietro Cortelli

  174
  Citations

• Brain-Thyroid-Lung syndrome: a patient with a severe multi-system disorder due to a de novo mutation in the thyroid transcription factor 1 gene.

  Michel A. A. P. Willemsen;Guido J. Breedveld;Siep Wouda;Barto J. Otten

  126
  Citations