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Carlo Rivolta

41PUBLICATIONS
406CO-AUTHORS
Vision scienceSensory systemsOptical technologyGenetic immunologyPredictive and prognostic markers
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Journal

Publications (41)

Sort by Publication Date:
|Mar 16, 2026
Drusenoid macular dystrophies in Singaporean Chinese: first report of Doyne honeycomb retinal dystrophy and late-onset retinal degeneration from Southeast Asia.

Peijun Zhang, Mathieu Quinodoz, Charles Ong

|Feb 06, 2026
Biallelic germline variants in the hematologic malignancy predisposition gene <i>DDX41</i> cause retinal dystrophy through dysregulation of retinal homeostasis.

Zoéline Mars, Andrea Zanetti, Karolina Kaminska

|Jan 09, 2026
De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa.

Mathieu Quinodoz, Kim Rodenburg, Zuzana Cvackova

|Aug 26, 2025
A survey of genotypes associated with Leber congenital amaurosis and early-onset severe retinal degeneration identified in a Singaporean patient cohort.

Saadia Z Farooqui, Mathieu Quinodoz, Tien-En Tan

|Jul 15, 2025
RetiGene, a comprehensive gene atlas for inherited retinal diseases (IRDs).

Mathieu Quinodoz, Elifnaz Celik, Dhryata Kamdar

|Apr 03, 2025
A comprehensive genetic landscape of inherited retinal diseases in a large Pakistani cohort.

Mukhtar Ullah, Atta Ur Rehman, Mathieu Quinodoz

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Frequent Collaborators

10 joint publications

Virginie Peter

9 joint publications

Mathieu Quinodoz

9 joint publications

Andrea Superti-Furga

8 joint publications

Luísa Coutinho-Santos

7 joint publications

Karolina Kaminska

6 joint publications

Cristina Santos

5 joint publications

Francesca Cancellieri

5 joint publications

Ana-Berta Sousa

4 joint publications

Rosanna Pescini-Gobert

4 joint publications

Dror Sharon

Frequent Collaborators

10 joint publications

Virginie Peter

9 joint publications

Mathieu Quinodoz

9 joint publications

Andrea Superti-Furga

8 joint publications

Luísa Coutinho-Santos

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