Jordi Maggi

11PUBLICATIONS
19CO-AUTHORS
Gene mappingNeurogeneticsGenome structure and regulationGene expression (incl. microarray and other genome-wide approaches)Epigenetics (incl. genome methylation and epigenomics)
Featured researcher

Get your video featured.

JoVEPublish with JoVE
Journal

Publications (11)

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

Flora Delas, Samuel Koller, Jordi Maggi

|Jan 08, 2025
Retinal Dystrophy Associated with Homozygous Variants in NRL.

Jordi Maggi, James V M Hanson, Lisa Kurmann

|Jan 08, 2025
Rescue of Aberrant Splicing Caused by a Novel Complex Deep-intronic ABCA4 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

|Jun 27, 2024
Limited Added Diagnostic Value of Whole Genome Sequencing in Genetic Testing of Inherited Retinal Diseases in a Swiss Patient Cohort.

Jordi Maggi, Samuel Koller, Silke Feil

Pageof 2