Ivona Sansovic

Zagreb, Croatia

Last Updated: 09/26/2026

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Found 14 publications

Genetic causes of the lissencephaly spectrum: insights from chromosomal microarray and clinical/whole-exome sequencing.

Genetic causes of the lissencephaly spectrum: insights from chromosomal microarray and clinical/whole-exome sequencing.

Journal: Croatian medical journal

Published: June 13, 2026

Expanding the clinical spectrum of RNU4ATAC-opathies: More frequent and diverse than assumed.

Expanding the clinical spectrum of RNU4ATAC-opathies: More frequent and diverse than assumed.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: October 01, 2025

Expanding the clinical spectrum of RNU4ATAC-opathies: more frequent and diverse than assumed.

Expanding the clinical spectrum of RNU4ATAC-opathies: more frequent and diverse than assumed.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: October 01, 2025

Identification of an episignature for CHD3-related Snijders Blok-Campeau syndrome reveals heterogeneity in the CHARGE syndrome episignature: towards a better characterisation of chromatinopathies.

Identification of an episignature for CHD3-related Snijders Blok-Campeau syndrome reveals heterogeneity in the CHARGE syndrome episignature: towards a better characterisation of chromatinopathies.

Journal: Genome medicine

Published: May 20, 2025

Novel de Novo Nonsense Variants in AGO3 and KHSRP: Insights into Global Developmental Delay and Autism Spectrum Disorders through Whole Genome Analysis.

Novel de Novo Nonsense Variants in AGO3 and KHSRP: Insights into Global Developmental Delay and Autism Spectrum Disorders through Whole Genome Analysis.

Journal: The American journal of case reports

Published: July 12, 2024

Spectrum of genetic variants in 306 patients with non-syndromic hearing loss from Croatia.

Spectrum of genetic variants in 306 patients with non-syndromic hearing loss from Croatia.

Journal: Croatian medical journal

Published: June 13, 2024

Comparison of the ABC and ACMG systems for variant classification.

Comparison of the ABC and ACMG systems for variant classification.

Journal: European journal of human genetics : EJHG

Published: December 19, 2023

The first case report of distal 16p12.1p11.2 trisomy and proximal 16p11.2 tetrasomy inherited from both parents.

The first case report of distal 16p12.1p11.2 trisomy and proximal 16p11.2 tetrasomy inherited from both parents.

Journal: Croatian medical journal

Published: November 06, 2023

Clinical relevance of the TECTA c.6183G>T variant identified in a family with autosomal dominant hearing loss: a case report.

Clinical relevance of the TECTA c.6183G>T variant identified in a family with autosomal dominant hearing loss: a case report.

Journal: Croatian medical journal

Published: November 06, 2023

Trends in the treatment of undescended testes: a pediatric tertiary care center experience from Croatia.

Trends in the treatment of undescended testes: a pediatric tertiary care center experience from Croatia.

Journal: World journal of pediatric surgery

Published: June 13, 2022

Beckwith Wiedemann syndrome: A population-based study on prevalence, prenatal diagnosis, associated anomalies and survival in Europe.

Beckwith Wiedemann syndrome: A population-based study on prevalence, prenatal diagnosis, associated anomalies and survival in Europe.

Journal: European journal of medical genetics

Published: February 27, 2018

Chromosomal microarray in clinical diagnosis: a study of 337 patients with congenital anomalies and developmental delays or intellectual disability.

Chromosomal microarray in clinical diagnosis: a study of 337 patients with congenital anomalies and developmental delays or intellectual disability.

Journal: Croatian medical journal

Published: June 15, 2017

Showing 1-12 of 14

Last Updated: 09/26/2026