Chloe Quelin
Rennes, France
Last Updated: 09/26/2026
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Found 83 publications
A cardiovascular, craniofacial, and neurodevelopmental disorder caused by loss-of-function variants in the eIF3 complex component genes EIF3A and EIF3B.
Journal: American journal of human genetics
Published: February 12, 2026
The clinical and molecular spectrum of AGO2-associated Lessel-Kreienkamp neurodevelopmental syndrome.
Journal: Genome medicine
Published: December 16, 2025
Evaluation of the contribution of trio-exome sequencing in selected prenatal indications.
Journal: Frontiers in genetics
Published: December 05, 2025
Assessing the de novo paradigm in sporadic early-onset Alzheimer disease trios.
Journal: Molecular psychiatry
Published: October 02, 2025
Pathological disruption of CELF2 shuttling causes neuronal hyperactivity, learning deficits, and seizures.
Journal: The Journal of clinical investigation
Published: September 11, 2025
Genetic variants disrupting activity-dependent CELF2 shuttling cause neuronal hyperexcitability, learning deficits, and seizures.
Journal: medRxiv : the preprint server for health sciences
Published: July 16, 2025
Genetic analyses using chromosomal microarray and exome sequencing in fetuses and women with Müllerian duct anomalies.
Journal: Journal of assisted reproduction and genetics
Published: April 29, 2025
A cardiovascular, craniofacial, and neurodevelopmental disorder caused by loss-of-function variants in the eIF3 complex component genes EIF3A and EIF3B.
Journal: American journal of human genetics
Published: April 07, 2025
Heterozygous pathogenic variants in the splicing factor SF1 lead to a large spectrum of neurodevelopmental disorders.
Journal: American journal of human genetics
Published: April 07, 2025
Refined genotype-phenotype correlations in neurofibromatosis type 1 patients with NF1 point variants.
Journal: Journal of medical genetics
Published: March 14, 2025
Last Updated: 09/26/2026