Dezso David
Lisbon, 1649016, Portugal
Last Updated: 09/26/2026
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Found 19 publications
A Novel Frameshift CHD4 Variant Leading to Sifrim-Hitz-Weiss Syndrome in a Proband with a Subclinical Familial t(17;19) and a Large dup(2)(q14.3q21.1).
Journal: Biomedicines
Published: November 16, 2022
Editorial: Chromosome structural variants: Epidemiology, identification and contribution to human diseases.
Journal: Frontiers in genetics
Published: August 19, 2022
Corrigendum: SVInterpreter: A Comprehensive Topologically Associated Domain Based Clinical Outcome Prediction Tool for Balanced and Unbalanced Structural Variants.
Journal: Frontiers in genetics
Published: February 02, 2022
SVInterpreter: A Comprehensive Topologically Associated Domain-Based Clinical Outcome Prediction Tool for Balanced and Unbalanced Structural Variants.
Journal: Frontiers in genetics
Published: August 11, 2021
Clinical and genetic findings in Hungarian pediatric patients carrying chromosome 16p copy number variants and a review of the literature.
Journal: European journal of medical genetics
Published: January 07, 2020
Comprehensive clinically oriented workflow for nucleotide level resolution and interpretation in prenatal diagnosis of de novo apparently balanced chromosomal translocations in their genomic landscape.
Journal: Human genetics
Published: December 09, 2019
Ring chromosome 6 in a child with anterior segment dysgenesis and review of its overlap with other FOXC1 deletion phenotypes.
Journal: Congenital anomalies
Published: June 02, 2018
Identification of OAF and PVRL1 as candidate genes for an ocular anomaly characterized by Peters anomaly type 2 and ectopia lentis.
Journal: Experimental eye research
Published: April 20, 2017
Complex X chromosome rearrangement associated with multiorgan autoimmunity.
Journal: Molecular cytogenetics
Published: April 08, 2015
Last Updated: 09/26/2026