Ioannis Papaevripidou

Nicosia, 2371, Cyprus

Last Updated: 09/26/2026

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Found 22 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

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

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

Hereditary multiple exostoses caused by a chromosomal inversion removing part of EXT1 gene.

Hereditary multiple exostoses caused by a chromosomal inversion removing part of EXT1 gene.

Journal: Molecular cytogenetics

Published: January 10, 2023

Exploring the Genetic Causality of Discordant Phenotypes in Familial Apparently Balanced Translocation Cases Using Whole Exome Sequencing.

Exploring the Genetic Causality of Discordant Phenotypes in Familial Apparently Balanced Translocation Cases Using Whole Exome Sequencing.

Journal: Genes

Published: October 27, 2022

Showing 1-12 of 22

Last Updated: 09/26/2026