Jacqueline Chrast

Lausanne, VD 1015, Switzerland

Last Updated: 09/26/2026

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Found 15 publications

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

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

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

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

Journal: NPJ genomic medicine

Published: June 09, 2021

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

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

Inhibition of G-protein signalling in cardiac dysfunction of intellectual developmental disorder with cardiac arrhythmia (IDDCA) syndrome.

Inhibition of G-protein signalling in cardiac dysfunction of intellectual developmental disorder with cardiac arrhythmia (IDDCA) syndrome.

Journal: Journal of medical genetics

Published: March 19, 2020

The Human-Specific BOLA2 Duplication Modifies Iron Homeostasis and Anemia Predisposition in Chromosome 16p11.2 Autism Individuals.

The Human-Specific BOLA2 Duplication Modifies Iron Homeostasis and Anemia Predisposition in Chromosome 16p11.2 Autism Individuals.

Journal: American journal of human genetics

Published: June 27, 2019

GENCODE reference annotation for the human and mouse genomes.

GENCODE reference annotation for the human and mouse genomes.

Journal: Nucleic acids research

Published: August 15, 2018

Low number of fixed somatic mutations in a long-lived oak tree.

Low number of fixed somatic mutations in a long-lived oak tree.

Journal: Nature plants

Published: July 21, 2017

Extension of human lncRNA transcripts by RACE coupled with long-read high-throughput sequencing (RACE-Seq).

Extension of human lncRNA transcripts by RACE coupled with long-read high-throughput sequencing (RACE-Seq).

Journal: Nature communications

Published: April 20, 2016

Showing 1-12 of 15

Last Updated: 09/26/2026