Mario Tosi

Mario Tosi 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 Mario Tosi sits on this spectrum.

Mario Tosi 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 Mario Tosi sits on this spectrum.

Overview

Best Publications

• Frequent de novo mutations and exon deletions in the C1inhibitor gene of patients with angioedema

  Emanuela Pappalardo;Marco Cicardi;Christiane Duponchel;Anna Carugati

  285
  Citations

• Guidelines for splicing analysis in molecular diagnosis derived from a set of 327 combined in silico/in vitro studies on BRCA1 and BRCA2 variants.

  Claude Houdayer;Virginie Caux-Moncoutier;Sophie Krieger;Michel Barrois

  270
  Citations

• Rapid detection of novel BRCA1 rearrangements in high-risk breast-ovarian cancer families using multiplex PCR of short fluorescent fragments.

  Federica Casilli;Zorika Christiana Di Rocco;Sophie Gad;Isabelle Tournier

  259
  Citations

• Clusters of intragenic Alu repeats predispose the human C1 inhibitor locus to deleterious rearrangements.

  Dominique Stoppa-Lyonnet;Philip E. Carter;Tommaso Meo;Mario Tosi

  243
  Citations

• Mouse liver and salivary gland α-amylase mRNAs differ only in 5′ non-translated sequences

  Otto Hagenbüchle;Mario Tosi;Ueli Schibler;Raymonde Bovey

  214
  Citations

• Use of Splicing Reporter Minigene Assay to Evaluate the Effect on Splicing of Unclassified Genetic Variants

  Pascaline Gaildrat;Audrey Killian;Alexandra Martins;Isabelle Tournier

  204
  Citations

• Multiple polyadenylation sites in a mouse alpha-amylase gene.

  Mario Tosi;Richard A. Young;Otto Hagenbüchle;Ueli Schibler

  199
  Citations

• Tumor-infiltrating lymphocytes in colorectal cancers with microsatellite instability are correlated with the number and spectrum of frameshift mutations.

  David Tougeron;Emilie Fauquembergue;Alexandre Rouquette;Florence Le Pessot

  190
  Citations

• A large fraction of unclassified variants of the mismatch repair genes MLH1 and MSH2 is associated with splicing defects.

  Isabelle Tournier;Myriam Vezain;Alexandra Martins;Françoise Charbonnier

  190
  Citations

• Molecular genetics of C1 inhibitor.

  Mario Tosi

  189
  Citations

• Comprehensive screening for constitutional RB1 mutations by DHPLC and QMPSF.

  C. Houdayer;M. Gauthier-Villars;A. Laugé;S. Pagès-Berhouet

  185
  Citations

• A single base deletion in the Tfm androgen receptor gene creates a short-lived messenger RNA that directs internal translation initiation.

  Maria-Luisa Gaspar;Tommaso Meo;Pierre Bourgarel;Jean-Louis Guenet

  174
  Citations

• Exonic Splicing Mutations Are More Prevalent than Currently Estimated and Can Be Predicted by Using In Silico Tools

  Omar Soukarieh;Pascaline Gaildrat;Mohamad Hamieh;Aurélie Drouet

  165
  Citations

• A Rare SMN2 Variant in a Previously Unrecognized Composite Splicing Regulatory Element Induces Exon 7 Inclusion and Reduces the Clinical Severity of Spinal Muscular Atrophy

  Myriam Vezain;Pascale Saugier-Veber;Elisa Goina;Renaud Touraine

  159
  Citations

• Complete cDNA sequence of human complement C1s and close physical linkage of the homologous genes C1s and C1r

  Mario Tosi;Christiane Duponchel;Tommaso Meo;Cecile Julier

  156
  Citations

• Complete nucleotide sequence of the gene for human C1 inhibitor with an unusually high density of Alu elements

  Philip E. Carter;Christiane Duponchel;Mario Tosi;John E. Fothergill

  153
  Citations

• Exhaustive mutation scanning by fluorescence-assisted mismatch analysis discloses new genotype-phenotype correlations in angiodema.

  E. Verpy;M. Biasotto;M. Brai;G. Misiano

  150
  Citations

• Altered C1 inhibitor genes in type I hereditary angioedema

  Dominique Stoppa-Lyonnet;Mario Tosi;Jérôme Laurent;Alain Sobel

  142
  Citations

• Mutations and sequence variants in the testis-determining region of the Y chromosome in individuals with a 46,XY female phenotype

  R. Veitia;A. Ion;S. Barbaux;M. A. Jobling

  139
  Citations

• Basic and clinical immunology Frequent de novo mutations and exon deletions in the C1inhibitor gene of patients with angioedema

  Emanuela Pappalardo;Marco Cicardi;Sylvain Choquet;Angelo Agostoni

  0
  Citations