Alexandre Reymond

Lausanne, VD, Switzerland

Last Updated: 09/26/2026

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Found 112 publications

Single nucleotide variants in UNC13C associated with neurodevelopmental disorders affect ethanol sensitivity in Drosophila.

Single nucleotide variants in UNC13C associated with neurodevelopmental disorders affect ethanol sensitivity in Drosophila.

Journal: Biochemistry and biophysics reports

Published: June 18, 2025

Bi-allelic variants in BRF2 are associated with perinatal death and craniofacial anomalies.

Bi-allelic variants in BRF2 are associated with perinatal death and craniofacial anomalies.

Journal: Genome medicine

Published: February 01, 2025

Genetic modifiers and ascertainment drive variable expressivity of complex disorders.

Genetic modifiers and ascertainment drive variable expressivity of complex disorders.

Journal: medRxiv : the preprint server for health sciences

Published: September 10, 2024

Genetic modifiers and ascertainment drive variable expressivity of complex disorders.

Genetic modifiers and ascertainment drive variable expressivity of complex disorders.

Journal: Cell

Published: August 19, 2024

Further delineation of the SCAF4-associated neurodevelopmental disorder.

Further delineation of the SCAF4-associated neurodevelopmental disorder.

Journal: European journal of human genetics : EJHG

Published: April 23, 2024

The pleiotropic spectrum of proximal 16p11.2 CNVs.

The pleiotropic spectrum of proximal 16p11.2 CNVs.

Journal: American journal of human genetics

Published: March 28, 2024

Disentangling mechanisms behind the pleiotropic effects of proximal 16p11.2 BP4-5 CNVs.

Disentangling mechanisms behind the pleiotropic effects of proximal 16p11.2 BP4-5 CNVs.

Journal: American journal of human genetics

Published: March 28, 2024

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

Author Correction: Possible association of 16p11.2 copy number variation with altered lymphocyte and neutrophil counts.

Author Correction: Possible association of 16p11.2 copy number variation with altered lymphocyte and neutrophil counts.

Journal: NPJ genomic medicine

Published: May 24, 2023

Chromosomal deletions on 16p11.2 encompassing SH2B1 are associated with accelerated metabolic disease.

Chromosomal deletions on 16p11.2 encompassing SH2B1 are associated with accelerated metabolic disease.

Journal: Cell reports. Medicine

Published: March 21, 2023

Biallelic variants in NSUN6 cause an autosomal recessive neurodevelopmental disorder.

Biallelic variants in NSUN6 cause an autosomal recessive neurodevelopmental disorder.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: February 09, 2023

Showing 1-12 of 112

Last Updated: 09/26/2026