Marianthi Karali

9PUBLICATIONS
172CO-AUTHORS
NeurogeneticsNeurology and neuromuscular diseasesCell and nuclear divisionGene mappingMedical biochemistry - inorganic elements and compounds
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Publications (9)

|Jan 29, 2025
A Novel Variant in TUBB4B Causes Progressive Cone-Rod Dystrophy and Early Onset Sensorineural Hearing Loss.

Margherita Scarpato, Francesco Testa, Anna Nesti

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

Mathieu Quinodoz, Kim Rodenburg, Zuzana Cvackova

|Jun 19, 2024
Novel and Recurrent Copy Number Variants in ABCA4-Associated Retinopathy.

Zelia Corradi, Claire-Marie Dhaenens, Olivier Grunewald

|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

|Dec 27, 2023
Late-onset mucopolysaccharidosis type IIIA mimicking Usher syndrome.

Alessandro De Falco, Marianthi Karali, Chiara Criscuolo

|Dec 24, 2021
VarGenius-HZD Allows Accurate Detection of Rare Homozygous or Hemizygous Deletions in Targeted Sequencing Leveraging Breadth of Coverage.

Francesco Musacchia, Marianthi Karali, Annalaura Torella

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Frequent Collaborators

7 joint publications

Sandro Banfi

3 joint publications

Zelia Corradi

2 joint publications

Petra Liskova

2 joint publications

Dror Sharon