Carolina Sismani

International Airport Avenue, 6
Agios Dometios, 2370, Cyprus

Last Updated: 09/26/2026

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Found 49 publications

Discovery of Causative Genetic Variants in Patients with Congenital and/or Developmental Anomalies by Exome Sequencing.

Discovery of Causative Genetic Variants in Patients with Congenital and/or Developmental Anomalies by Exome Sequencing.

Journal: Genes

Published: May 29, 2026

Assessing concordance of genetic parameters between trophectoderm and inner cell mass in morphologically scored day-5 embryos via NGS.

Assessing concordance of genetic parameters between trophectoderm and inner cell mass in morphologically scored day-5 embryos via NGS.

Journal: Reproduction & fertility

Published: October 03, 2025

ASSESSING CONCORDANCE OF GENETIC PARAMETERS BETWEEN TROPHECTODERM AND INNER CELL MASS IN MORPHOLOGICALLY SCORED DAY-5 EMBRYOS VIA NGS.

ASSESSING CONCORDANCE OF GENETIC PARAMETERS BETWEEN TROPHECTODERM AND INNER CELL MASS IN MORPHOLOGICALLY SCORED DAY-5 EMBRYOS VIA NGS.

Journal: Reproduction & fertility

Published: October 03, 2025

Investigating the "Dark" Genome: First Report of Partington Syndrome in Cyprus.

Investigating the "Dark" Genome: First Report of Partington Syndrome in Cyprus.

Journal: Genes

Published: September 05, 2025

Identification of a novel, pathogenic CREBBP variant in a patient with Menke-Hennekam syndrome: a Case Report.

Identification of a novel, pathogenic CREBBP variant in a patient with Menke-Hennekam syndrome: a Case Report.

Journal: Frontiers in genetics

Published: February 28, 2025

YME1L1 Dysfunction Associated With 3-Methylglutaconic Aciduria.

YME1L1 Dysfunction Associated With 3-Methylglutaconic Aciduria.

Journal: Journal of inherited metabolic disease

Published: November 15, 2024

Fetal genetic factors in pregnancy loss: Insights from a meta-analysis and effectiveness of whole exome sequencing.

Fetal genetic factors in pregnancy loss: Insights from a meta-analysis and effectiveness of whole exome sequencing.

Journal: PloS one

Published: September 11, 2024

Investigating TNNC1 gene inheritance and clinical outcomes through a comprehensive familial study.

Investigating TNNC1 gene inheritance and clinical outcomes through a comprehensive familial study.

Journal: American journal of medical genetics. Part A

Published: February 01, 2024

Sodium Channel Gene Variants in Fetuses with Abnormal Sonographic Findings: Expanding the Prenatal Phenotypic Spectrum of Sodium Channelopathies.

Sodium Channel Gene Variants in Fetuses with Abnormal Sonographic Findings: Expanding the Prenatal Phenotypic Spectrum of Sodium Channelopathies.

Journal: Genes

Published: December 21, 2023

A novel large intragenic DPYD deletion causing dihydropyrimidine dehydrogenase deficiency: a case report.

A novel large intragenic DPYD deletion causing dihydropyrimidine dehydrogenase deficiency: a case report.

Journal: BMC medical genomics

Published: October 31, 2023

GAA variants associated with reduced enzymatic activity but lack of Pompe-related symptoms, incidentally identified by exome sequencing.

GAA variants associated with reduced enzymatic activity but lack of Pompe-related symptoms, incidentally identified by exome sequencing.

Journal: Molecular genetics and metabolism reports

Published: June 07, 2023

CHD2 pathogenic nonsense variant in a three-generation family with variable phenotype and a paracentric inversion 16: Case report.

CHD2 pathogenic nonsense variant in a three-generation family with variable phenotype and a paracentric inversion 16: Case report.

Journal: Heliyon

Published: January 23, 2023

Showing 1-12 of 49

Last Updated: 09/26/2026