Mederic Jeanne
Tours, France
Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 35 publications
Author Correction: Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes.
Journal: Nature genetics
Published: May 18, 2026
Unraveling the Genetic Basis of Omphalocele: A Systematic Review.
Journal: Journal of pediatric surgery
Published: November 17, 2025
Unraveling the genetic basis of omphalocele: A systematic review.
Journal: Journal of pediatric surgery
Published: November 17, 2025
Phenotype-specific muscle proteomic profiling in titinopathies.
Journal: Acta neuropathologica communications
Published: September 12, 2025
Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes.
Journal: Nature genetics
Published: August 18, 2025
Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes.
Journal: Nature genetics
Published: August 18, 2025
MYH6 in Congenital Heart Defects: A Genotype-Phenotype Characterization in a French Cohort.
Journal: Pediatric cardiology
Published: August 02, 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
Opportunities and Challenges of Fetal Gene Therapy.
Journal: Prenatal diagnosis
Published: January 28, 2025
Prenatal genomic sequencing: Navigating uncertainty.
Journal: Seminars in perinatology
Published: November 30, 2024
Last Updated: 09/26/2026