Francesca Mari

Francesca Mari 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 Francesca Mari sits on this spectrum.

Francesca Mari 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 Francesca Mari sits on this spectrum.

Overview

Best Publications

• Genetic mechanisms of critical illness in Covid-19.

  E. Pairo-Castineira;E. Pairo-Castineira;S. Clohisey;L. Klaric;A. D. Bretherick

  1445
  Citations

• Dyskeratosis congenita and cancer in mice deficient in ribosomal RNA modification

  Davide Ruggero;Silvia Grisendi;Francesco Piazza;Eduardo Rego;Eduardo Rego

  516
  Citations

• FOXG1 Is Responsible for the Congenital Variant of Rett Syndrome

  Francesca Ariani;Giuseppe Hayek;Dalila Rondinella;Rosangela Artuso

  511
  Citations

• CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome

  Francesca Mari;Sara Azimonti;Ilaria Bertani;Fabrizio Bolognese

  379
  Citations

• A mutation in the rett syndrome gene, MECP2, causes X-linked mental retardation and progressive spasticity in males.

  Ilaria Meloni;Mirella Bruttini;Ilaria Longo;Francesca Mari

  314
  Citations

• CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasms

  E Scala;Francesca Ariani;Francesca Mari;R Caselli

  286
  Citations

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

  Ilaria Longo;Paola Porcedda;Francesca Mari;Daniela Giachino

  282
  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

• A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling.

  Dagmar Wieczorek;Nina Bögershausen;Filippo Beleggia;Sabine Steiner-Haldenstätt

  229
  Citations

• Association of Toll-like receptor 7 variants with life-threatening COVID-19 disease in males: findings from a nested case-control study.

  Chiara Fallerini;Sergio Daga;Stefania Mantovani;Elisa Benetti

  200
  Citations

• Autosomal-dominant Alport syndrome: natural history of a disease due to COL4A3 or COL4A4 gene.

  Chiara Pescucci;Francesca Mari;Ilaria Longo;Paraskevi Vogiatzi

  183
  Citations

• Phenotypic clustering of lamin A/C mutations in neuromuscular patients

  S. Benedetti;I. Menditto;M. Degano;C. Rodolico

  174
  Citations

• Unbiased next generation sequencing analysis confirms the existence of autosomal dominant Alport syndrome in a relevant fraction of cases

  C. Fallerini;L. Dosa;R. Tita;D. Del Prete

  163
  Citations

• Evidence of digenic inheritance in Alport syndrome

  Maria Antonietta Mencarelli;Laurence Heidet;Helen Storey;Michel van Geel

  163
  Citations

• Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants.

  Lucilla Pizzo;Matthew Jensen;Andrew Polyak;Andrew Polyak;Jill A. Rosenfeld

  162
  Citations

• Corpus callosum abnormalities, intellectual disability, speech impairment, and autism in patients with haploinsufficiency of ARID1B

  C. Halgren;S. Kjaergaard;M. Bak;C. Hansen

  161
  Citations

• Mowat–Wilson syndrome: Facial phenotype changing with age: Study of 19 Italian patients and review of the literature

  L. Garavelli;M. Zollino;P. Cerruti Mainardi;F. Gurrieri

  145
  Citations

• Real-time quantitative PCR as a routine method for screening large rearrangements in Rett syndrome: Report of one case of MECP2 deletion and one case of MECP2 duplication.

  Francesca Ariani;Francesca Mari;Chiara Pescucci;Ilaria Longo

  140
  Citations

• Redox Imbalance and Morphological Changes in Skin Fibroblasts in Typical Rett Syndrome

  Cinzia Signorini;Silvia Leoncini;Claudio De Felice;Alessandra Pecorelli

  138
  Citations

• Expert consensus guidelines for the genetic diagnosis of Alport syndrome.

  Judy Savige;Francesca Ariani;Francesca Mari;Mirella Bruttini

  137
  Citations