Samuel Koller

17PUBLICATIONS
37CO-AUTHORS
Gene mappingVision scienceNeurogeneticsGenome structure and regulationGene expression (incl. microarray and other genome-wide approaches)
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Publications (17)

|Jul 12, 2025
Novel Genetic Variants and Clinical Profiles in Peters Anomaly Spectrum Disorders.

Flora Delas, Samuel Koller, Jordi Maggi

|Apr 17, 2025
Variants in CFAP410 cause a range of retinal and skeletal phenotypes.

Ryan E Schmidt, Amy E Pohodich, David Birch

|Jan 08, 2025
Retinal Dystrophy Associated with Homozygous Variants in <i>NRL</i>.

Jordi Maggi, James V M Hanson, Lisa Kurmann

|Jan 08, 2025
Rescue of Aberrant Splicing Caused by a Novel Complex Deep-intronic <i>ABCA4</i> Allele.

Jordi Maggi, Silke Feil, Jiradet Gloggnitzer

|Sep 14, 2024
Nanopore Deep Sequencing as a Tool to Characterize and Quantify Aberrant Splicing Caused by Variants in Inherited Retinal Dystrophy Genes.

Jordi Maggi, Silke Feil, Jiradet Gloggnitzer

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