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Lidia Larizza

Lidia Larizza

D-Index & Metrics

Genetics

D-Index
61
Citations
12306
World Ranking
3071
National Ranking
63

Overview

Lidia Larizza is affiliated with the University of Milan in Italy. Their research spans multiple areas within biochemistry, genetics, and molecular biology, with a significant focus on genetics and molecular mechanisms related to human diseases.

The main fields of study for Larizza include Biochemistry, Genetics and Molecular Biology, and Medicine. Their subfields of study encompass Molecular Biology, Genetics, Developmental Biology, Pediatrics and Perinatology, and Pathology and Forensic Medicine.

Larizza's research topics cover diverse aspects of genetics, including:

  • Genomic variations and chromosomal abnormalities
  • Genetics and Neurodevelopmental Disorders
  • Genomics and Rare Diseases
  • RNA Research and Splicing
  • Congenital limb and hand anomalies
  • Genomics and Chromatin Dynamics
  • Prenatal Screening and Diagnostics

Recent published papers demonstrate contributions to both clinical and molecular genetics fields, including:

  • "Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement," 2024, Journal of Medical Genetics
  • "Ring Chromosome 20 Syndrome: Genetics, Clinical Characteristics, and Overlapping Phenotypes," 2020, Frontiers in Neurology
  • "Expanding the phenotype associated to KMT2A variants: overlapping clinical signs between Wiedemann-Steiner and Rubinstein-Taybi syndromes," 2020, European Journal of Human Genetics
  • "Targeted whole exome sequencing and Drosophila modelling to unveil the molecular basis of primary ovarian insufficiency," 2021, Human Reproduction
  • "SETD5 Gene Haploinsufficiency in Three Patients With Suspected KBG Syndrome," 2020, Frontiers in Neurology

Frequent co-authors collaborating with Larizza include:

  • Silvia Russo
  • Palma Finelli
  • Luciano Calzari
  • Donatella Milani
  • M. Crippa

Larizza publishes regularly in several scientific journals, notably:

  • International Journal of Molecular Sciences
  • Genes
  • Frontiers in Genetics
  • Frontiers in Neurology
  • European Journal of Human Genetics

Best Publications

  • X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations

    Antonio Musio;Angelo Selicorni;Maria Luisa Focarelli;Cristina Gervasini

  • Prognostic impact of c-KIT mutations in core binding factor leukemias. an Italian retrospective study

    Roberto Cairoli;Alessandro Beghini;Giovanni Grillo;Gianpaolo Nadali

  • C-kit mutations in core binding factor leukemias.

    Alessandro Beghini;Paolo Peterlongo;Carla B. Ripamonti;Lidia Larizza

  • Rothmund-Thomson syndrome

    Lidia Larizza;Gaia Roversi;Ludovica Volpi

  • Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly.

    Maila Giannandrea;Veronica Bianchi;Maria Lidia Mignogna;Alessandra Sirri

  • Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith–Wiedemann syndrome

    Jet Bliek;Gaetano Verde;Jonathan Callaway;Jonathan Callaway;Saskia M Maas

  • Constitutional Chromothripsis Rearrangements Involve Clustered Double-Stranded DNA Breaks and Nonhomologous Repair Mechanisms

    Wigard P Kloosterman;Masoumeh Tavakoli-Yaraki;Markus J van Roosmalen;Ellen van Binsbergen

  • KIT activating mutations: incidence in adult and pediatric acute myeloid leukemia, and identification of an internal tandem duplication

    Alessandro Beghini;Carla B Ripamonti;Roberto Cairoli;Giovanni Cazzaniga

  • RNA hyperediting and alternative splicing of hematopoietic cell phosphatase (PTPN6) gene in acute myeloid leukemia

    Alessandro Beghini;Carla B. Ripamonti;Paolo Peterlongo;Gaia Roversi

  • Targeted Next-Generation Sequencing Appoints C16orf57 as Clericuzio-Type Poikiloderma with Neutropenia Gene

    Ludovica Volpi;Gaia Roversi;Elisa Adele Colombo;Nico Leijsten

  • Epigenetic modulation of the IGF2/H19 imprinted domain in human embryonic and extra-embryonic compartments and its possible role in fetal growth restriction.

    Silvia Tabano;Patrizia Colapietro;Irene Cetin;Francesca R. Grati

  • Genomic inversions of human chromosome 15q11–q13 in mothers of Angelman syndrome patients with class II (BP2/3) deletions

    Giorgio Gimelli;Miguel Angel Pujana;Maria Grazia Patricelli;Silvia Russo

  • Eleven X Chromosome Breakpoints Associated with Premature Ovarian Failure (POF) Map to a 15-Mb YAC Contig Spanning Xq21

    Cinzia Sala;Giulia Arrigo;Giovanna Torri;Francesco Martinazzi

  • Cancer Risk in Beckwith-Wiedemann Syndrome: A Systematic Review and Meta-Analysis Outlining a Novel (Epi)Genotype Specific Histotype Targeted Screening Protocol

    Alessandro Mussa;Cristina Molinatto;Giuseppina Baldassarre;Evelise Riberi

  • Mechanisms causing imprinting defects in familial Beckwith–Wiedemann syndrome with Wilms' tumour

    Angela Sparago;Silvia Russo;Flavia Cerrato;Serena Ferraiuolo

  • (Epi)genotype-phenotype correlations in Beckwith-Wiedemann syndrome.

    Alessandro Mussa;Silvia Russo;Agostina De Crescenzo;Andrea Freschi

  • Mental retardation and cardiovascular malformations in NF1 microdeleted patients point to candidate genes in 17q11.2

    M Venturin;P Guarnieri;F Natacci;M Stabile

  • Suggestive evidence that the highly metastatic variant ESb of the T-cell lymphoma Eb is derived from spontaneous fusion with a host macrophage

    L. Larizza;V. Schirrmacher;L. Graf;E. Pflüger

  • Prevalence of Beckwith-Wiedemann syndrome in North West of Italy.

    Alessandro Mussa;Silvia Russo;Agostina De Crescenzo;Nicoletta Chiesa

  • Erratum: Targeted next-generation sequencing appoints C16orf57 as clericuzio-type poikiloderma with neutropenia gene (American Journal of Human Genetics (2010) 86 (72-76))

    Ludovica Volpi;Gaia Roversi;Elisa Adele Colombo;Nico Leijsten

Frequent Co-Authors

Romano Tenconi
Romano Tenconi University of Padua
Monica Miozzo
Monica Miozzo University of Milan
Andrea Riccio
Andrea Riccio University of Campania "Luigi Vanvitelli"
Rolph Pfundt
Rolph Pfundt Radboud University
Matthew A. Deardorff
Matthew A. Deardorff Children's Hospital of Philadelphia
Meena Upadhyaya
Meena Upadhyaya Cardiff University
Gabriele Gillessen-Kaesbach
Gabriele Gillessen-Kaesbach University of Lübeck
Fabio Macciardi
Fabio Macciardi University of California, Irvine
Orsetta Zuffardi
Orsetta Zuffardi University of Pavia
Daniela Toniolo
Daniela Toniolo Vita-Salute San Raffaele University

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