Lidia Larizza - Genetic Mutations

Author Information

Lidia Larizza is currently affiliated with the Istituto Auxologico Italiano-IRCCS, Medical Cytogenetics & Human Molecular Genetics, in Milan, Italy. She has made significant contributions to the field of genetics, with a particular focus on human molecular genetics and cytogenetics.

Research Contributions

Lidia Larizza has an extensive research portfolio that spans various aspects of genetics. Her work includes studies on germline variants and their association with conditions such as miscarriage, infertility, and Beckwith-Wiedemann syndrome. She has also explored the genetic underpinnings of neural-specific functions and diseases, particularly in the context of Rubinstein-Taybi syndrome. Her research on maternal uniparental disomy of chromosome 20 (UPD(20)mat) has provided insights into its role in Silver Russell syndrome. Additionally, she has investigated the effects of histone deacetylase inhibitors on morphological defects and hypoexcitability in induced pluripotent stem cell (iPSC) neurons from Rubinstein-Taybi patients. Lidia Larizza has also contributed to understanding the molecular basis of primary ovarian insufficiency, the clinical overlap of intellectual disability syndromes, and the genetic characteristics of microdeletions and other chromosomal instabilities.

Aliases

Lidia Larizza is also known by the aliases L Larizza and L. Larizza.

Publication and Citation Metrics

Metric	Value
Citation Count	8892
H-Index	50
Paper Count	359

Publications:

Germline variants in genes of the subcortical maternal complex and Multilocus Imprinting Disturbance are associated with miscarriage/infertility or Beckwith–Wiedemann progeny

DOI: 10.1186/s13148-022-01262-2

Year: 2022

Genes for RNA-binding proteins involved in neural-specific functions and diseases are downregulated in Rubinstein-Taybi iNeurons

DOI: 10.4103/1673-5374.314286

Year: 2022

Maternal Uniparental Disomy of Chromosome 20 (UPD(20)mat) as Differential Diagnosis of Silver Russell Syndrome: Identification of Three New Cases

DOI: 10.3390/genes12040588

Year: 2021

Histone Deacetylase Inhibitors Ameliorate Morphological Defects and Hypoexcitability of iPSC-Neurons from Rubinstein-Taybi Patients

DOI: 10.3390/ijms22115777

Year: 2021

Targeted whole exome sequencing and Drosophila modelling to unveil the molecular basis of primary ovarian insufficiency

DOI: 10.1093/humrep/deab192

Year: 2021

Interconnected Gene Networks Underpin the Clinical Overlap of HNRNPH1-Related and Rubinstein–Taybi Intellectual Disability Syndromes

DOI: 10.3389/fnins.2021.745684

Year: 2021

8p23.2-pter Microdeletions: Seven New Cases Narrowing the Candidate Region and Review of the Literature

DOI: 10.3390/genes12050652

Year: 2021

Poikiloderma with Neutropenia

DOI: 10.1007/978-3-319-66816-1_87-2

Year: 2021

Review for "Expanding the phenotypic spectrum of FINCA syndrome beyond infancy"

DOI: 10.1111/cge.14016/v1/review1

Year: 2021

Spontaneous chromosomal instability in peripheral blood lymphocytes from two molecularly confirmed Italian patients with Hereditary Fibrosis Poikiloderma: insights into cancer predisposition

DOI: 10.1590/1678-4685-GMB-2020-0332

Year: 2021

What are Copy Number Variations (CNVs)?

How Do Mutant Genes Affect Organisms?

How are Mutations Detected?

How are Synonymous Codons Studied?

How Does Genetic Counseling Assist During Pregnancy?

How are BRCA1 and BRCA2 Mutations Inherited?

What are the sources of PAH exposure?

What are the Ethical Considerations Surrounding Induced Mutations?

What are Examples of Diseases Caused by Missense Mutations?

Why Are Synonymous Mutations Considered "Silent"?

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