Roberto Ravazzolo

Roberto Ravazzolo 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 Roberto Ravazzolo sits on this spectrum.

Roberto Ravazzolo 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 Roberto Ravazzolo sits on this spectrum.

Overview

Best Publications

• TMEM16A, A Membrane Protein Associated with Calcium-Dependent Chloride Channel Activity

  Antonella Caputo;Emanuela Caci;Loretta Ferrera;Nicoletta Pedemonte

  1413
  Citations

• Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

  Sébastien Jacquemont;Alexandre Reymond;Flore Zufferey;Louise Harewood

  557
  Citations

• Mutations in MTMR13, a new pseudophosphatase homologue of MTMR2 and Sbf1, in two families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease associated with early-onset glaucoma.

  H. Azzedine;A. Bolino;T. Taïeb;N. Birouk

  400
  Citations

• Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. The May-Heggllin/Fechtner Syndrome Consortium.

  Seri M;Cusano R;Gangarossa S;Caridi G

  396
  Citations

• PHOX2B mutations and polyalanine expansions correlate with the severity of the respiratory phenotype and associated symptoms in both congenital and late onset Central Hypoventilation syndrome

  I Matera;T Bachetti;F Puppo;M Di Duca

  384
  Citations

• MYH9-Related Disease: May-Hegglin Anomaly, Sebastian Syndrome, Fechtner Syndrome, and Epstein Syndrome Are not Distinct Entities but Represent a Variable Expression of a Single Illness

  Marco Seri;Alessandro Pecci;Filomena Di Bari;Roberto Cusano

  309
  Citations

• Regulation of TMEM16A Chloride Channel Properties by Alternative Splicing

  Loretta Ferrera;Antonella Caputo;Ifeoma Ubby;Erica Bussani

  233
  Citations

• Association of TMEM16A chloride channel overexpression with airway goblet cell metaplasia

  Paolo Scudieri;Emanuela Caci;Silvia Bruno;Loretta Ferrera

  175
  Citations

• IL-4 is a potent modulator of ion transport in the human bronchial epithelium in vitro.

  Luis J. V. Galietta;Patrick Pagesy;Chiara Folli;Emanuela Caci

  169
  Citations

• Betaine, Dimethyl Sulfoxide, and 7-Deaza-dGTP, a Powerful Mixture for Amplification of GC-Rich DNA Sequences

  Marco Musso;Renata Bocciardi;Sara Parodi;Roberto Ravazzolo

  167
  Citations

• Neutrophils from patients with TNFRSF1A mutations display resistance to tumor necrosis factor–induced apoptosis: Pathogenetic and clinical implications

  Andrea D'Osualdo;Francesca Ferlito;Ignazia Prigione;Laura Obici

  167
  Citations

• Polymorphisms in the osteopontin promoter affect its transcriptional activity.

  Francesca Giacopelli;Renato Marciano;Angela Pistorio;Paolo Catarsi

  162
  Citations

• Thiocyanate Transport in Resting and IL-4-Stimulated Human Bronchial Epithelial Cells: Role of Pendrin and Anion Channels

  Nicoletta Pedemonte;Emanuela Caci;Elvira Sondo;Antonella Caputo

  161
  Citations

• Distinct pathogenetic mechanisms for PHOX2B associated polyalanine expansions and frameshift mutations in congenital central hypoventilation syndrome

  Tiziana Bachetti;Ivana Matera;Silvia Borghini;Marco Di Duca

  154
  Citations

• Lysyl oxidase activates the transcription activity of human collagene III promoter. Possible involvement of Ku antigen.

  M. Giampuzzi;G. Botti;M. Di Duca;L. Arata

  149
  Citations

• Genetic polymorphism of the renin-angiotensin system and organ damage in essential hypertension

  Roberto Pontremoli;Maura Ravera;Francesca Viazzi;Clizia Nicolella

  146
  Citations

• Ectodermal dysplasias: Not only 'skin' deep

  Manuela Priolo;M. Silengo;M. Lerone;R. Ravazzolo

  143
  Citations

• Overexpression of the C-type natriuretic peptide (CNP) is associated with overgrowth and bone anomalies in an individual with balanced t(2;7) translocation.

  Renata Bocciardi;Roberto Giorda;Jens Buttgereit;Jens Buttgereit;Stefania Gimelli

  138
  Citations

• The deletion polymorphism of the angiotensin I-converting enzyme gene is associated with target organ damage in essential hypertension.

  Roberto Pontremoli;Antonella Sofia;Angelito Tirotta;Maura Ravera

  134
  Citations

• Two single-nucleotide polymorphisms in the 5' and 3' ends of the osteopontin gene contribute to susceptibility to systemic lupus erythematosus.

  S. D'Alfonso;N. Barizzone;M. Giordano;A. Chiocchetti

  132
  Citations