Elena Angelovska-Sukarova

Skopje, The former Yugoslav Republic of Macedonia

Last Updated: 09/26/2026

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Found 22 publications

GNB1-related neurodevelopmental disorder due to a pathogenic exon 6 variant NM_002074.5:c239T>A (p.Ile80Asn) inherited from an asymptomatic father with mosaicism.

GNB1-related neurodevelopmental disorder due to a pathogenic exon 6 variant NM_002074.5:c239T>A (p.Ile80Asn) inherited from an asymptomatic father with mosaicism.

Journal: BMJ case reports

Published: May 19, 2026

First Report of a Familiar MYCBP2 Pathogenic Variant: Expanding the Knowledge of Neurodevelopmental Disorders.

First Report of a Familiar MYCBP2 Pathogenic Variant: Expanding the Knowledge of Neurodevelopmental Disorders.

Journal: Balkan journal of medical genetics : BJMG

Published: November 07, 2025

Whole Genome Sequencing of "Mutation-Negative" Individuals With Cornelia de Lange Syndrome.

Whole Genome Sequencing of "Mutation-Negative" Individuals With Cornelia de Lange Syndrome.

Journal: Human mutation

Published: May 25, 2024

DNA methylation analysis in patients with neurodevelopmental disorders improves variant interpretation and reveals complexity.

DNA methylation analysis in patients with neurodevelopmental disorders improves variant interpretation and reveals complexity.

Journal: HGG advances

Published: December 06, 2023

Mutational Spectrum and Genotype-phenotype Correlations in Neurofibromatosis Type 1 Patients from North Macedonia: Identification of Ten Novel NF1 Pathogenic Variants

Mutational Spectrum and Genotype-phenotype Correlations in Neurofibromatosis Type 1 Patients from North Macedonia: Identification of Ten Novel NF1 Pathogenic Variants

Journal: Balkan medical journal

Published: April 19, 2023

Skewed X-chromosome inactivation in unsolved neurodevelopmental disease cases can guide re-evaluation For X-linked genes.

Skewed X-chromosome inactivation in unsolved neurodevelopmental disease cases can guide re-evaluation For X-linked genes.

Journal: European journal of human genetics : EJHG

Published: October 18, 2022

Duplication of Chromosome 16p13.11-p12.3 with Different Expressions in the Same Family.

Duplication of Chromosome 16p13.11-p12.3 with Different Expressions in the Same Family.

Journal: Balkan journal of medical genetics : BJMG

Published: August 27, 2021

Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases.

Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases.

Journal: Cell reports

Published: February 02, 2021

Missense variant contribution to USP9X-female syndrome.

Missense variant contribution to USP9X-female syndrome.

Journal: NPJ genomic medicine

Published: August 07, 2020

Diagnostic re-evaluation of congenital hypothyroidism in Macedonia: predictors for transient or permanent hypothyroidism.

Diagnostic re-evaluation of congenital hypothyroidism in Macedonia: predictors for transient or permanent hypothyroidism.

Journal: Endocrine connections

Published: January 10, 2018

Genetics in Macedonia-Following the international trends.

Genetics in Macedonia-Following the international trends.

Journal: Molecular genetics & genomic medicine

Published: December 31, 2017

Regional Variation in the Incidence of Congenital Hypothyroidism in Macedonia.

Regional Variation in the Incidence of Congenital Hypothyroidism in Macedonia.

Journal: International journal of neonatal screening

Published: August 04, 2017

Showing 1-12 of 22

Last Updated: 09/26/2026