Caroline Thuillier

Lille, 59000, France

Last Updated: 09/26/2026

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Found 16 publications

Resolving non‑coding splice‑altering variants using an integrative genomic and transcriptomic workflow: application to FOXP1.

Resolving non‑coding splice‑altering variants using an integrative genomic and transcriptomic workflow: application to FOXP1.

Journal: Human genomics

Published: January 23, 2026

Compound heterozygous structural variants resulting in CNTNAP2 biallelic loss-of-function: rare mechanisms unveiled by genome sequencing.

Compound heterozygous structural variants resulting in CNTNAP2 biallelic loss-of-function: rare mechanisms unveiled by genome sequencing.

Journal: Human genomics

Published: December 02, 2025

MED13L pathogenic missense variants impair protein stability and interaction, underlying diverse clinical outcomes.

MED13L pathogenic missense variants impair protein stability and interaction, underlying diverse clinical outcomes.

Journal: HGG advances

Published: March 20, 2025

Combining long-read DNA and RNA sequencing to enhance molecular understanding of structural variations leading to copy gains.

Combining long-read DNA and RNA sequencing to enhance molecular understanding of structural variations leading to copy gains.

Journal: Computational and structural biotechnology journal

Published: February 26, 2025

Long-read sequencing of recurrent FGF12 duplications in epilepsy: Insights into structural mechanisms and aberrant isoforms.

Long-read sequencing of recurrent FGF12 duplications in epilepsy: Insights into structural mechanisms and aberrant isoforms.

Journal: Epilepsia

Published: February 25, 2025

NONO-related X-linked intellectual disability syndrome: Further clinical and molecular delineation.

NONO-related X-linked intellectual disability syndrome: Further clinical and molecular delineation.

Journal: European journal of medical genetics

Published: October 09, 2024

Splice site variants in the canonical donor site of MED13L exon 7 lead to intron retention in patients with MED13L syndrome.

Splice site variants in the canonical donor site of MED13L exon 7 lead to intron retention in patients with MED13L syndrome.

Journal: Journal of medical genetics

Published: May 30, 2024

Expanded phenotypic spectrum of UDP-glucose-6-dehydrogenase recessive neurodevelopmental disorder: Two novel descriptions with or without epileptic encephalopathy.

Expanded phenotypic spectrum of UDP-glucose-6-dehydrogenase recessive neurodevelopmental disorder: Two novel descriptions with or without epileptic encephalopathy.

Journal: American journal of medical genetics. Part A

Published: April 30, 2024

Identification of a novel CFAP61 homozygous splicing variant associated with multiple morphological abnormalities of the flagella.

Identification of a novel CFAP61 homozygous splicing variant associated with multiple morphological abnormalities of the flagella.

Journal: Journal of assisted reproduction and genetics

Published: January 25, 2024

TRIT1 deficiency: Two novel patients with four novel variants.

TRIT1 deficiency: Two novel patients with four novel variants.

Journal: European journal of medical genetics

Published: April 25, 2022

Phenotypic spectrum of SHANK2-related neurodevelopmental disorder.

Phenotypic spectrum of SHANK2-related neurodevelopmental disorder.

Journal: European journal of medical genetics

Published: April 13, 2020

Further delineation of the female phenotype with KDM5C disease causing variants: 19 new individuals and review of the literature.

Further delineation of the female phenotype with KDM5C disease causing variants: 19 new individuals and review of the literature.

Journal: Clinical genetics

Published: January 06, 2020

Showing 1-12 of 16

Last Updated: 09/26/2026