Sophie Blesson
Tours, France
Last Updated: 09/26/2026
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Found 32 publications
FOXJ1 transcriptional targets in human airway cells and impaired multiciliogenesis in FOXJ1-associated primary ciliary dyskinesia.
Journal: American journal of respiratory cell and molecular biology
Published: December 11, 2025
Refined genotype-phenotype correlations in neurofibromatosis type 1 patients with NF1 point variants.
Journal: Journal of medical genetics
Published: March 14, 2025
Variant Update on ASCC1 : Characterization of the First Homozygous Missense Variant Involved in Prenatal-Onset Spinal Muscular Atrophy With Congenital Bone Fractures 2.
Journal: American journal of medical genetics. Part A
Published: February 25, 2025
Assortative mating and parental genetic relatedness drive the pathogenicity of variably expressive variants.
Journal: medRxiv : the preprint server for health sciences
Published: June 09, 2023
Assortative mating and parental genetic relatedness contribute to the pathogenicity of variably expressive variants.
Journal: American journal of human genetics
Published: May 17, 2023
Meiotic Segregation of an Isodicentric Derived from Chromosome 15 in Sperm of a Patient with Mosaic Karyotype: Case Report and Review of the Literature.
Journal: Cytogenetic and genome research
Published: December 20, 2021
Same performance of exome sequencing before and after fetal autopsy for congenital abnormalities: toward a paradigm shift in prenatal diagnosis?
Journal: European journal of human genetics : EJHG
Published: December 13, 2021
Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities.
Journal: American journal of human genetics
Published: December 23, 2020
Two Novel Homozygous Mutations in Phosphoglucomutase 3 Leading to Severe Combined Immunodeficiency, Skeletal Dysplasia, and Malformations.
Journal: Journal of clinical immunology
Published: December 07, 2020
Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita.
Journal: Journal of medical genetics
Published: November 16, 2020
De novo mutations of SCN1A are responsible for arthrogryposis broadening the SCN1A-related phenotypes.
Journal: Journal of medical genetics
Published: May 08, 2020
Genotype-first in a cohort of 95 fetuses with multiple congenital abnormalities: when exome sequencing reveals unexpected fetal phenotype-genotype correlations.
Journal: Journal of medical genetics
Published: February 24, 2020
Last Updated: 09/26/2026