Beryl Bertrand-Royer

Lausanne, VD, Switzerland

Last Updated: 09/26/2026

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Found 26 publications

Comprehensive genetic diagnosis and therapeutic perspectives in 155 children with developmental and epileptic encephalopathy.

Comprehensive genetic diagnosis and therapeutic perspectives in 155 children with developmental and epileptic encephalopathy.

Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society

Published: November 18, 2024

An atypical form of 60S ribosomal subunit in Diamond-Blackfan anemia linked to RPL17 variants.

An atypical form of 60S ribosomal subunit in Diamond-Blackfan anemia linked to RPL17 variants.

Journal: JCI insight

Published: June 12, 2023

Developmental disorder and spastic paraparesis in two sisters with a TCF7L2 truncating variant inherited from a mosaic mother.

Developmental disorder and spastic paraparesis in two sisters with a TCF7L2 truncating variant inherited from a mosaic mother.

Journal: American journal of medical genetics. Part A

Published: October 13, 2022

Analysis of missense variants in the human genome reveals widespread gene-specific clustering and improves prediction of pathogenicity.

Analysis of missense variants in the human genome reveals widespread gene-specific clustering and improves prediction of pathogenicity.

Journal: American journal of human genetics

Published: August 20, 2021

CNV Detection from Exome Sequencing Data in Routine Diagnostics of Rare Genetic Disorders: Opportunities and Limitations.

CNV Detection from Exome Sequencing Data in Routine Diagnostics of Rare Genetic Disorders: Opportunities and Limitations.

Journal: Genes

Published: August 05, 2021

De novo variants in CACNA1E found in patients with intellectual disability, developmental regression and social cognition deficit but no seizures.

De novo variants in CACNA1E found in patients with intellectual disability, developmental regression and social cognition deficit but no seizures.

Journal: Molecular autism

Published: June 28, 2021

CNOT2 haploinsufficiency in a 40-year-old man with intellectual disability, autism, and seizures.

CNOT2 haploinsufficiency in a 40-year-old man with intellectual disability, autism, and seizures.

Journal: American journal of medical genetics. Part A

Published: February 17, 2021

AutoMap is a high performance homozygosity mapping tool using next-generation sequencing data.

AutoMap is a high performance homozygosity mapping tool using next-generation sequencing data.

Journal: Nature communications

Published: March 17, 2020

Genomic and transcriptomic landscape of conjunctival melanoma.

Genomic and transcriptomic landscape of conjunctival melanoma.

Journal: PLoS genetics

Published: February 21, 2020

Non-coding deletions identify Maenli lncRNA as a limb-specific En1 regulator.

Non-coding deletions identify Maenli lncRNA as a limb-specific En1 regulator.

Journal: Nature

Published: October 05, 2019

Childhood neurodegeneration associated with a specific UBTF variant: a new case report and review of the literature.

Childhood neurodegeneration associated with a specific UBTF variant: a new case report and review of the literature.

Journal: BMC neurology

Published: April 30, 2019

Peripheral neuropathy and cognitive impairment associated with a novel monoallelic HARS variant.

Peripheral neuropathy and cognitive impairment associated with a novel monoallelic HARS variant.

Journal: Annals of clinical and translational neurology

Published: November 29, 2018

Showing 1-12 of 26

Last Updated: 09/26/2026