Pascal Joset

Basel, BS, Switzerland

Last Updated: 09/26/2026

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Found 66 publications

Author Correction: The human ciliopathy protein RSG1 links the CPLANE complex to transition zone architecture.

Author Correction: The human ciliopathy protein RSG1 links the CPLANE complex to transition zone architecture.

Journal: Nature communications
Published: February 02, 2026

Heterozygous pathogenic variants in the splicing factor SF1 lead to a large spectrum of neurodevelopmental disorders.

Heterozygous pathogenic variants in the splicing factor SF1 lead to a large spectrum of neurodevelopmental disorders.

Journal: American journal of human genetics
Published: April 07, 2025

Pathogenic XPO1 variants cause a dominant neurodevelopmental disorder.

Pathogenic XPO1 variants cause a dominant neurodevelopmental disorder.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: January 13, 2025

Bi-allelic loss-of-function variants in POC5 cause a syndromic retinal, endocrine, and neuromuscular ciliopathy.

Bi-allelic loss-of-function variants in POC5 cause a syndromic retinal, endocrine, and neuromuscular ciliopathy.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: October 29, 2024

The human ciliopathy protein RSG1 links the CPLANE complex to transition zone architecture.

The human ciliopathy protein RSG1 links the CPLANE complex to transition zone architecture.

Journal: bioRxiv : the preprint server for biology
Published: October 10, 2024

The human ciliopathy protein RSG1 links the CPLANE complex to transition zone architecture.

The human ciliopathy protein RSG1 links the CPLANE complex to transition zone architecture.

Journal: Nature communications
Published: September 23, 2024

The human ciliopathy protein RSG1 links the CPLANE complex to transition zone architecture.

The human ciliopathy protein RSG1 links the CPLANE complex to transition zone architecture.

Journal: Nature communications
Published: September 23, 2024

Deleterious ZNRF3 germline variants cause neurodevelopmental disorders with mirror brain phenotypes via domain-specific effects on Wnt/β-catenin signaling.

Deleterious ZNRF3 germline variants cause neurodevelopmental disorders with mirror brain phenotypes via domain-specific effects on Wnt/β-catenin signaling.

Journal: American journal of human genetics
Published: April 29, 2024

SwissGenVar: A Platform for Clinical-Grade Interpretation of Genetic Variants to Foster Personalized Healthcare in Switzerland.

SwissGenVar: A Platform for Clinical-Grade Interpretation of Genetic Variants to Foster Personalized Healthcare in Switzerland.

Journal: Journal of personalized medicine
Published: April 04, 2024

Molecular and Phenotypic Characterization of the RORB-Related Disorder.

Molecular and Phenotypic Characterization of the RORB-Related Disorder.

Journal: Neurology
Published: January 02, 2024

Loss-of-Function Variants in CUL3 Cause a Syndromic Neurodevelopmental Disorder.

Loss-of-Function Variants in CUL3 Cause a Syndromic Neurodevelopmental Disorder.

Journal: Annals of neurology
Published: November 16, 2023

Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition.

Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition.

Journal: Research square
Published: October 16, 2023
Showing 1-12 of 66

Last Updated: 09/26/2026