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Alessandra Renieri

Alessandra Renieri

D-Index & Metrics

Genetics

D-Index
77
Citations
27726
World Ranking
1752
National Ranking
31

Overview

Alessandra Renieri is affiliated with the University of Siena in Italy, contributing extensively to research in genetics and molecular biology. Their work spans several main fields including Biochemistry, Genetics and Molecular Biology, and Medicine. The scientist's research subfields cover Genetics, Molecular Biology, Infectious Diseases, Oncology, and Immunology.

The scope of Alessandra Renieri's studies includes a variety of topics such as Genetics and Neurodevelopmental Disorders, Genomics and Rare Diseases, COVID-19 Clinical Research Studies, SARS-CoV-2 and COVID-19 Research, Genomic variations and chromosomal abnormalities, PARP inhibition in cancer therapy, and Cell Adhesion Molecules Research.

Recent papers by Alessandra Renieri include:

  • Genetic mechanisms of critical illness in COVID-19 (2020, Nature)
  • Mapping the human genetic architecture of COVID-19 (2021, Nature)
  • Rare coding variation provides insight into the genetic architecture and phenotypic context of autism (2022, Nature Genetics)
  • Vitamin D and COVID-19 susceptibility and severity in the COVID-19 Host Genetics Initiative: A Mendelian randomization study (2021, PLoS Medicine)
  • Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria (2021, European Journal of Human Genetics)

Frequent co-authors of Alessandra Renieri are:

  • Chiara Fallerini
  • Margherita Baldassarri
  • Francesca Mari
  • Anna Maria Pinto
  • Simone Furini

The scientist regularly publishes in several venues, most notably:

  • European Journal of Human Genetics
  • bioRxiv (Cold Spring Harbor Laboratory)
  • Genes
  • Genetics in Medicine
  • Brain

Best Publications

  • Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism

    F. Kyle Satterstrom;F. Kyle Satterstrom;Jack A. Kosmicki;Jiebiao Wang;Michael S. Breen

  • Rett syndrome: Revised diagnostic criteria and nomenclature

    Jeffrey L. Neul;Walter E. Kaufmann;Daniel G. Glaze;John Christodoulou

  • Genetic mechanisms of critical illness in Covid-19.

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

  • X-linked Alport Syndrome Natural History in 195 Families and Genotype- Phenotype Correlations in Males

    Jean Philippe Jais;Bertrand Knebelmann;Iannis Giatras;Mario De Marchi

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

    Sébastien Jacquemont;Alexandre Reymond;Flore Zufferey;Louise Harewood

  • Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism

    F. Kyle Satterstrom;Jack A. Kosmicki;Jiebiao Wang;Michael S Breen;Michael S Breen

  • FOXG1 Is Responsible for the Congenital Variant of Rett Syndrome

    Francesca Ariani;Giuseppe Hayek;Dalila Rondinella;Rosangela Artuso

  • X-Linked Alport Syndrome: Natural History and Genotype-Phenotype Correlations in Girls and Women Belonging to 195 Families: A "European Community Alport Syndrome Concerted Action" study

    Jean Philippe Jais;Bertrand Knebelmann;Iannis Giatras;Mario De Marchi

  • 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

  • A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders

    Flore Zufferey;Elliott H. Sherr;Noam D. Beckmann;Ellen Hanson

  • 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

  • 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

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

    E Scala;Francesca Ariani;Francesca Mari;R Caselli

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

    Ilaria Longo;Paola Porcedda;Francesca Mari;Daniela Giachino

  • FACL4, a new gene encoding long-chain acyl-CoA synthetase 4, is deleted in a family with Alport syndrome, elliptocytosis, and mental retardation.

    Monica Piccini;Francesca Vitelli;Mirella Bruttini;Barbara R. Pober

  • ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population.

    Elisa Benetti;Rossella Tita;Ottavia Spiga;Andrea Ciolfi

  • Alport syndrome: a unified classification of genetic disorders of collagen IV α345: a position paper of the Alport Syndrome Classification Working Group.

    Clifford E. Kashtan;Jie Ding;Guido Garosi;Laurence Heidet

  • Cloning of the gene for ocular albinism type 1 from the distal short arm of the X chromosome

    M. T. Bassi;M. V. Schiaffino;Alessandra Renieri;F. De Nigris

  • 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

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

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

Frequent Co-Authors

Francesca Mari
Francesca Mari University of Siena
Marco Seri
Marco Seri University of Bologna
Andrea Ballabio
Andrea Ballabio Baylor College of Medicine
Stephen W. Scherer
Stephen W. Scherer University of Toronto
Corrado Romano
Corrado Romano I.R.C.C.S. Oasi Maria SS
Antonio Federico
Antonio Federico University of Siena
Marco Gori
Marco Gori University of Siena
Alexandre Reymond
Alexandre Reymond University of Lausanne
Benjamin M. Neale
Benjamin M. Neale Harvard University
Laurent Villard
Laurent Villard Aix-Marseille University

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