Igor Vorechovsky

Overview

Best Publications

• Mutations of the Human Homolog of Drosophila patched in the Nevoid Basal Cell Carcinoma Syndrome

  Heidi Hahn;Carol Wicking;Peter G Zaphiropoulos;Mae R Gailani

  2397
  Citations

• Colocalization of X-linked agammaglobulinemia and X-linked immunodeficiency genes

  J. D. Thomas;P. Sideras;C. I. E. Smith;I. Vorechovsky

  750
  Citations

• Low frequency of alterations of the α (PPP2R1A) and β (PPP2R1B) isoforms of the subunit A of the serine-threonine phosphatase 2A in human neoplasms

  George A. Calin;Maria Grazia Di Iasio;Elisabetta Caprini;Igor Vorechovsky

  328
  Citations

• The FHIT Gene at 3p14.2 Is Abnormal in Breast Carcinomas

  Massimo Negrini;Carmen Monaco;Igor Vorechovsky;Masataka Ohta

  306
  Citations

• A mammalian patched homolog is expressed in target tissues of sonic hedgehog and maps to a region associated with developmental abnormalities

  Heidi Hahn;Jeffrey Christiansen;Carol Wicking;Peter G. Zaphiropoulos

  280
  Citations

• Mutations in the Human Homologue of Drosophila patched (PTCH) in Basal Cell Carcinomas and the Gorlin Syndrome: Different in Vivo Mechanisms of PTCH Inactivation'

  A B Unden;E Holmberg;B Lundh-Rozell;M Stähle-Bäckdahl

  254
  Citations

• Coding haplotype analysis supports HCR as the putative susceptibility gene for psoriasis at the MHC PSORS1 locus

  Kati Asumalahti;Colin Veal;Tarja Laitinen;Sari Suomela

  214
  Citations

• Transposable elements in disease-associated cryptic exons

  Igor Vorechovsky

  143
  Citations

• Prediction of single-nucleotide substitutions that result in exon skipping: identification of a splicing silencer in BRCA1 exon 6.

  Michela Raponi;Jana Kralovicova;Ellen Copson;Petr Divina

  139
  Citations

• Fine-Scale Mapping at IGAD1 and Genome-Wide Genetic Linkage Analysis Implicate HLA-DQ/DR as a Major Susceptibility Locus in Selective IgA Deficiency and Common Variable Immunodeficiency

  Jana Kralovicova;Lennart Hammarström;Alessandro Plebani;A. David B. Webster

  135
  Citations

• CDH1 mutations are present in both ductal and lobular breast cancer, but promoter allelic variants show no detectable breast cancer risk.

  Haixin Lei;Sara Sjöberg-Margolin;Sima Salahshor;Barbro Werelius

  127
  Citations

• Ab initio prediction of mutation-induced cryptic splice-site activation and exon skipping

  Petr Divina;Andrea Kvitkovicova;Emanuele Buratti;Igor Vorechovsky

  122
  Citations

• DNA-based mutation analysis of Bruton's tyrosine kinase gene in patients with X-linked agammaglobulinaemia

  Igor VoŘechovský;Mauno Vihinen;Geneviève de Saint Basile;Stanislava Honsová

  116
  Citations

• Branch site haplotypes that control alternative splicing

  Jana Kralovicova;Sophie Houngninou-Molango;Angela Krämer;Igor Vorechovsky

  102
  Citations

• Deletion and reduced expression of the Fanconi anemia FANCA gene in sporadic acute myeloid leukemia

  Marc Tischkowitz;N Morgan;David Grimwade;David Grimwade;C Eddy

  101
  Citations

• Structural basis for chromosome X-linked agammaglobulinemia: a tyrosine kinase disease

  M Vihinen;D Vetrie;H S Maniar;H D Ochs

  95
  Citations

• Natural history of genetically proven autosomal recessive Alport syndrome.

  Masafumi Oka;Kandai Nozu;Hiroshi Kaito;Xue Jun Fu

  87
  Citations

• UV mutation signature in tumor suppressor genes involved in skin carcinogenesis in xeroderma pigmentosum patients.

  Mariarosaria D'Errico;Angelo Calcagnile;Flora Canzona;Biagio Didona

  86
  Citations

• DBASS3 and DBASS5: databases of aberrant 3′- and 5′-splice sites

  Emanuele Buratti;Martin Chivers;Gyulin Hwang;Igor Vorechovsky

  81
  Citations

• BTKASE, MUTATION DATABASE OF X-LINKED AGAMMAGLOBULINEMIA (XLA)

  M. Vihinen;B. H. Belohradsky;R. N. Haire;E. Holinski-Feder

  27
  Citations