Carolina Sismani - Genetic Mutations

Author Information

Carolina Sismani is affiliated with the Department of Cytogenetics and Genomics at The Cyprus Institute of Neurology and Genetics in Nicosia, Cyprus, and also with The Cyprus School of Molecular Medicine in Nicosia, Cyprus. Her research predominantly focuses on understanding genetic causes and implications in developmental disorders, malformation syndromes, and other genetic conditions.

Research Contributions

Carolina Sismani has made significant contributions to the field of genetics, particularly in elucidating the genetic underpinnings of developmental disorders and malformation syndromes. Her research spans various topics, including balanced chromosomal rearrangements, novel mutations in known syndromes, and the development of genetic testing methodologies such as non-invasive prenatal testing (NIPT) for chromosomal aneuploidies and other genetic conditions. Her work has provided insights into both coding and noncoding genomic features associated with these disorders, and she has contributed to understanding rare genetic mutations and their phenotypic impacts.

Aliases

Carolina Sismani is also known by several aliases in academic publications, including C Sismani, C. Sismani, and C. Sismani,.

Publication and Citation Metrics

Metric	Value
Total Citation Count	1448
h-index	19
Total Number of Papers	92

Publications:

Balanced chromosomal rearrangements offer insights into coding and noncoding genomic features associated with developmental disorders

DOI: 10.1101/2022.02.15.22270795

Year: 2022

Unravelling the genetic causes of multiple malformation syndromes: A whole exome sequencing study of the Cypriot population

DOI: 10.1371/journal.pone.0253562

Year: 2021

An unusual combination of an atypical maternally inherited novel 0.3Mb deletion in Williams-Beuren region and a de novo 22q11.21 microduplication in an infant with supravalvular aortic stenosis.

DOI: 10.1016/j.ejmg.2020.104084

Year: 2020

Novel pericentric inversion inv(9)(p23q22.3) in unrelated individuals with fertility problems in the Southeast European population

DOI: 10.1038/s10038-020-0769-z

Year: 2020

First reported case of Steel syndrome in the European population: A novel homozygous mutation in COL27A1 and review of the literature

DOI: 10.1016/J.EJMG.2020.103939

Year: 2020

Targeted capture enrichment followed by NGS: development and validation of a single comprehensive NIPT for chromosomal aneuploidies, microdeletion syndromes and monogenic diseases

DOI: 10.1186/s13039-019-0459-8

Year: 2019

Two unrelated individuals carrying rare mosaic deletions in TCF4 gene

DOI: 10.1002/ajmg.a.60692

Year: 2019

24. PREIMPLANTATION GENETIC TESTING FOR ANEUPLOIDIES WITH NGS ON MINISEQ. A RELIABLE ALTERNATIVE FOR SMALL LABORATORIES

DOI: 10.1016/J.RBMO.2019.04.077

Year: 2019

De novo mosaic MECP2 mutation in a female with Rett syndrome

DOI: 10.1002/ccr3.1985

Year: 2019

MeDIP combined with in-solution targeted enrichment followed by NGS: Inter-individual methylation variability of fetal-specific biomarkers and their implementation in a proof of concept study for NIPT

DOI: 10.1371/journal.pone.0199010

Year: 2018

What are Current Research Trends in Genetic Mutations?

Can Missense Mutations be Treated or Repaired?

Can Genetic Disorders Affect Child Development?

What is Benzene?

What are the Applications of Genetic Mutation Data Analysis?

What is PacBio?

What Are the Implications of Genetic Research?

What are Copy Number Variations (CNVs)?

Can Gene Amplification Be Targeted Therapeutically?

How are Results Validated?

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