Francesca Mari

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