Carlo Rivolta

Basel, BS, Switzerland

Last Updated: 09/26/2026

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Found 166 publications

Guidance for clinical variant classification in genes for spliceosomal small nuclear RNAs.

Guidance for clinical variant classification in genes for spliceosomal small nuclear RNAs.

Journal: medRxiv : the preprint server for health sciences

Published: August 20, 2026

COQ8 chaperones coenzyme Q lipid intermediates through ATP-driven structural gating.

COQ8 chaperones coenzyme Q lipid intermediates through ATP-driven structural gating.

Journal: Science advances

Published: July 29, 2026

Missense variants in KATNA1 alter microtubule dynamics and underlie dominant macular dystrophy.

Missense variants in KATNA1 alter microtubule dynamics and underlie dominant macular dystrophy.

Journal: Research square

Published: July 17, 2026

The Trajectory of Gene Discovery in Retinitis Pigmentosa.

The Trajectory of Gene Discovery in Retinitis Pigmentosa.

Journal: Genes

Published: July 06, 2026

The AP5B1 p.(Leu785Pro) variant is a frequent cause of late-onset macular dystrophy with variable extraocular manifestations.

The AP5B1 p.(Leu785Pro) variant is a frequent cause of late-onset macular dystrophy with variable extraocular manifestations.

Journal: HGG advances

Published: June 23, 2026

The AP5B1 p.Leu785Pro variant is a frequent cause of late-onset macular dystrophy with variable extraocular manifestations.

The AP5B1 p.Leu785Pro variant is a frequent cause of late-onset macular dystrophy with variable extraocular manifestations.

Journal: HGG advances

Published: June 23, 2026

Steroidome Dysregulation and Complement C4 Copy Number Variation in Men With Central Serous Chorioretinopathy.

Steroidome Dysregulation and Complement C4 Copy Number Variation in Men With Central Serous Chorioretinopathy.

Journal: Investigative ophthalmology & visual science

Published: June 03, 2026

Clinical and molecular features of PRCD-associated retinopathy.

Clinical and molecular features of PRCD-associated retinopathy.

Journal: Acta ophthalmologica

Published: May 07, 2026

Drusenoid macular dystrophies in Singaporean Chinese: first report of Doyne honeycomb retinal dystrophy and late-onset retinal degeneration from Southeast Asia.

Drusenoid macular dystrophies in Singaporean Chinese: first report of Doyne honeycomb retinal dystrophy and late-onset retinal degeneration from Southeast Asia.

Journal: Ophthalmic genetics

Published: March 16, 2026

Biallelic Variants in MIMS1 Produce a Form of Spondyloepimetaphyseal Dysplasia With Tracheal Stenosis and Ectodermal Dysplasia (SEMDTSED).

Biallelic Variants in MIMS1 Produce a Form of Spondyloepimetaphyseal Dysplasia With Tracheal Stenosis and Ectodermal Dysplasia (SEMDTSED).

Journal: American journal of medical genetics. Part A

Published: February 27, 2026

Phenotypic Divergence in C19ORF44-Associated Retinal Degeneration despite an Identical Genotype: A Case Report.

Phenotypic Divergence in C19ORF44-Associated Retinal Degeneration despite an Identical Genotype: A Case Report.

Journal: Case reports in ophthalmology

Published: February 20, 2026

Biallelic germline variants in the hematologic malignancy predisposition gene DDX41 cause retinal dystrophy through dysregulation of retinal homeostasis.

Biallelic germline variants in the hematologic malignancy predisposition gene DDX41 cause retinal dystrophy through dysregulation of retinal homeostasis.

Journal: medRxiv : the preprint server for health sciences

Published: February 06, 2026

Showing 1-12 of 166

Last Updated: 09/26/2026