Norine Voisin

Lausanne, VD, Switzerland

Last Updated: 09/26/2026

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Found 17 publications

Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles.

Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles.

Journal: medRxiv : the preprint server for health sciences

Published: January 31, 2024

Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles.

Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles.

Journal: Genome medicine

Published: December 12, 2023

Variants in USP48 encoding ubiquitin hydrolase are associated with autosomal dominant non-syndromic hereditary hearing loss.

Variants in USP48 encoding ubiquitin hydrolase are associated with autosomal dominant non-syndromic hereditary hearing loss.

Journal: Human molecular genetics

Published: April 29, 2021

Rare and de novo coding variants in chromodomain genes in Chiari I malformation.

Rare and de novo coding variants in chromodomain genes in Chiari I malformation.

Journal: American journal of human genetics

Published: March 05, 2021

Rare and de novo coding variants in chromodomain genes in Chiari I malformation.

Rare and de novo coding variants in chromodomain genes in Chiari I malformation.

Journal: American journal of human genetics

Published: February 05, 2021

Ophthalmic phenotypes associated with biallelic loss-of-function PCDH12 variants.

Ophthalmic phenotypes associated with biallelic loss-of-function PCDH12 variants.

Journal: American journal of medical genetics. Part A

Published: November 23, 2020

Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction.

Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction.

Journal: American journal of human genetics

Published: October 19, 2020

Rare and de novo coding variants in chromodomain genes in Chiari I malformation.

Rare and de novo coding variants in chromodomain genes in Chiari I malformation.

Journal: American journal of human genetics

Published: July 27, 2020

Pathogenic homozygous variant in POMK gene is the cause of prenatally detected severe ventriculomegaly in two Lithuanian families.

Pathogenic homozygous variant in POMK gene is the cause of prenatally detected severe ventriculomegaly in two Lithuanian families.

Journal: American journal of medical genetics. Part A

Published: July 06, 2019

Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy.

Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy.

Journal: American journal of human genetics

Published: July 02, 2019

Mutations in MAST1 Cause Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations.

Mutations in MAST1 Cause Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations.

Journal: Neuron

Published: October 11, 2017

The association of severe encephalopathy and question mark ear is highly suggestive of loss of MEF2C function.

The association of severe encephalopathy and question mark ear is highly suggestive of loss of MEF2C function.

Journal: Clinical genetics

Published: February 02, 2017

Showing 1-12 of 17

Last Updated: 09/26/2026