Sissy Bassani
Lausanne, VD 1015, Switzerland
Last Updated: 09/26/2026
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Found 8 publications
Bi-allelic variants in BRF2 are associated with perinatal death and craniofacial anomalies.
Journal: Genome medicine
Published: February 01, 2025
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
Missense variants in ANO4 cause sporadic encephalopathic or familial epilepsy with evidence for a dominant-negative effect.
Journal: American journal of human genetics
Published: November 17, 2023
Variants in USP48 encoding ubiquitin hydrolase are associated with autosomal dominant non-syndromic hereditary hearing loss.
Journal: Human molecular genetics
Published: April 29, 2021
LSD1 is an environmental stress-sensitive negative modulator of the glutamatergic synapse.
Journal: Neurobiology of stress
Published: August 15, 2020
New age-related hearing loss candidate genes in humans: an ongoing challenge.
Journal: Gene
Published: December 20, 2019
Showing 1-8 of 8
Last Updated: 09/26/2026