Elena V Semina

24PUBLICATIONS
47CO-AUTHORS
Epigenetics (incl. genome methylation and epigenomics)Gene mappingGene expression (incl. microarray and other genome-wide approaches)Genome structure and regulationAerospace structures
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Publications (24)

|Sep 26, 2026
Guillouet-Gordon Syndrome With Severe Microtia in an Infant With a Homozygous Variant in MED16.

|Apr 07, 2026
Variants in the CxxC domain of the epigenetic regulator KDM2B support its role in developmental eye anomalies.

Fabiola Ceroni, Linda M Reis, Fiona Watkins

|Dec 03, 2025
Intragenic loss-of-function variants in transcription factors MAZ, FOXP1 and SIN3B in colobomatous microphthalmia.

Sarah E Seese, Linda M Reis, Adele Schneider

|Apr 29, 2025
GJA8-associated developmental eye disorders: a new multicentre study highlights mutational hotspots and genotype-phenotype correlations.

Solomon S Merepa, Linda M Reis, Alejandra Damián

|Jan 08, 2025
Novel Intragenic and Genomic Variants Highlight the Phenotypic Variability in HCCS-Related Disease.

Linda M Reis, Donald Basel, Pierre Bitoun

|Oct 25, 2024
Deletion upstream of MAB21L2 highlights the importance of evolutionarily conserved non-coding sequences for eye development.

Fabiola Ceroni, Munevver B Cicekdal, Richard Holt

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Frequent Collaborators

12 joint publications

Linda M Reis

3 joint publications

Samuel Thompson

3 joint publications

Nicola K Ragge

3 joint publications

Fabiola Ceroni