Rebekkah J Hitti-Malin

6PUBLICATIONS
194CO-AUTHORS
Cell and nuclear divisionNeurology and neuromuscular diseasesGene mappingEpigenetics (incl. genome methylation and epigenomics)Animal protection (incl. pests and pathogens)
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Publications (6)

|Oct 20, 2025
Nanopore long-read sequencing for the critically ill facilitates ultrarapid diagnostics and urgent clinical decision making.

Daphne J Smits, Federico Ferraro, Mark Drost

|Jan 20, 2025
De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa.

Mathieu Quinodoz, Kim Rodenburg, Zuzana Cvackova

|Mar 28, 2024
Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes.

Rebekkah J Hitti-Malin, Daan M Panneman, Zelia Corradi

|Jan 21, 2023
Effective smMIPs-Based Sequencing of Maculopathy-Associated Genes in Stargardt Disease Cases and Allied Maculopathies from the UK.

Benjamin Mc Clinton, Zelia Corradi, Martin McKibbin

|Oct 19, 2022
Using single molecule Molecular Inversion Probes as a cost-effective, high-throughput sequencing approach to target all genes and loci associated with macular diseases.

Rebekkah J Hitti-Malin, Claire-Marie Dhaenens, Daan M Panneman

|Sep 07, 2020
A LINE-1 insertion situated in the promoter of IMPG2 is associated with autosomal recessive progressive retinal atrophy in Lhasa Apso dogs.

Rebekkah J Hitti-Malin, Louise M Burmeister, Sally L Ricketts

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Frequent Collaborators

3 joint publications

Zelia Corradi

3 joint publications

Susanne Roosing

3 joint publications

Erica G M Boonen

2 joint publications

Sandro Banfi