Author

Markéta Havlovičová

Charles UniversityORCID 0000-0002-1477-8484Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2 Genetics· 1

Signature Assays, Organisms & Methods

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Organism:human· 3 Approach:statistical model· 2 Assay:whole-exome sequencing· 2 Research Focus:differential expression· 1 Approach:experimental assay· 1 Research Focus:variant calling· 1

Frequent Co-Authors

Anne‐Sophie Denommé‐PichoniD· 2 shared Abucar Mohamed· 1 shared Adam JacksoniD· 1 shared Alejandro D. IglesiasiD· 1 shared Alessandra RenieriiD· 1 shared Alfons MacayaiD· 1 shared Alison M. MaleiD· 1 shared Aloysius DomingoiD· 1 shared

Activity by Year

2018-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 21 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Anne‐Sophie Denommé‐PichonORCID

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3 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintFeb 28, 2026

Clinical, in vitro, and in vivo evidence of WAPL as a novel cohesinopathy gene and phenotypic driver of 10q22.3q23.2 genomic disorder

Philip M. Boone, Serkan Erdin, Abucar Mohamed…·Ilaria Parenti

The paper identifies WAPL as a novel cohesinopathy gene and driver of a genomic disorder, showing its role in developmental delay and other anomalies through clinical, in vitro, and in vivo analyses.

DOI 10.64898/2026.02.23.26346364

humanexperimental assay

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Genetic & Genomic MedicineEuropean Journal of Human GeneticsPeer-reviewedMay 31, 2024

Structural variant calling and clinical interpretation in 6224 unsolved rare disease exomes

German M. Demidov, Steven Laurie, Annalaura Torella…·Stephan Ossowski

This study identifies structural variants in 6224 rare disease exomes, finding 0.4% diagnostic yield with 8 previously undetected pathogenic SVs.

22 citationstop 3%

humanwhole-exome sequencing

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GeneticsPLoS GeneticsPeer-reviewedNov 30, 2018

De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay

Susan M. Hiatt, Matthew B. Neu, Ryne C. Ramaker…·Gregory M. Cooper

The paper identifies de novo mutations in RALA, a RAS-like GTPase, as a cause of intellectual disability and developmental delay, showing their functional impact on GTP binding and effector interactions.

35 citations

humanwhole-exome sequencing

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