Martin Schwarz

7PUBLICATIONS
183CO-AUTHORS
Epigenetics (incl. genome methylation and epigenomics)Gene expression (incl. microarray and other genome-wide approaches)Optical technologyAnthropological geneticsCancer genetics
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Publications (7)

|Jun 04, 2026
A c.89G>C p.(Gly30Ala) Variant in the DHCR7 Gene as a Cause of a Mild Phenotype in the Smith-Lemli-Opitz Syndrome.

|Jun 01, 2026
A call for caution in expanding the mutational spectrum of SI gene deficiency.

|Aug 30, 2025
Phenotype Analysis in Two Families With Otopalatodigital Syndrome Spectrum Disorder Based on FLNA Gene Variants.

Martin Schwarz, Miroslav Fišer, Lenka Šodková

|Apr 29, 2024
Body mass index is an overlooked confounding factor in existing clustering studies of 3D facial scans of children with autism spectrum disorder.

Martin Schwarz, Jan Geryk, Markéta Havlovicová

|Mar 08, 2024
Functional studies associate novel DUOX2 gene variants detected in heterozygosity to Crohn's disease.

Martin Schwarz, Matej Gazdarica, Eva Froňková

|Nov 12, 2023
The Human Phenotype Ontology in 2024: phenotypes around the world.

Michael A Gargano, Nicolas Matentzoglu, Ben Coleman

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Frequent Collaborators

4 joint publications

Milan Macek

2 joint publications

Markéta Havlovicová

2 joint publications

Lukáš Ryba

2 joint publications

Anna Křepelová