Wilfrid Carre
Rennes, France
Last Updated: 09/26/2026
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Found 28 publications
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
The Clinical and Genetic Landscape of a French Multicenter Cohort of 2563 Epilepsy Patients Referred for Genetic Diagnosis.
Journal: European journal of neurology
Published: April 22, 2025
SWS1-complex in premature ovarian insufficiency: SWSAP1 as a new POI gene.
Journal: Human reproduction (Oxford, England)
Published: January 21, 2025
Expanding the TUBB3-Related Phenotypic Landscape: Fetal Diagnosis of Novel TUBB3 Variant Linked With Phenotypic Variability Within a Single Family.
Journal: Prenatal diagnosis
Published: March 26, 2024
DISP1 deficiency: Monoallelic and biallelic variants cause a spectrum of midline craniofacial malformations.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: June 07, 2023
FOSL2 truncating variants in the last exon cause a neurodevelopmental disorder with scalp and enamel defects.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: June 03, 2022
Fetal Description of the Pancreatic Agenesis and Holoprosencephaly Syndrome Associated to a Specific CNOT1 Variant.
Journal: Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society
Published: April 28, 2022
Meiotic genes in premature ovarian insufficiency: variants in HROB and REC8 as likely genetic causes.
Journal: European journal of human genetics : EJHG
Published: June 29, 2021
Skraban-Deardorff syndrome: Six new cases of WDR26-related disease and expansion of the clinical phenotype.
Journal: Clinical genetics
Published: November 25, 2020
Disrupted Hypothalamo-Pituitary Axis in Association With Reduced SHH Underlies the Pathogenesis of NOTCH-Deficiency.
Journal: The Journal of clinical endocrinology and metabolism
Published: January 03, 2020
Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy.
Journal: American journal of human genetics
Published: December 20, 2018
Targeted panel sequencing establishes the implication of planar cell polarity pathway and involves new candidate genes in neural tube defect disorders.
Journal: Human genetics
Published: September 17, 2018
Last Updated: 09/26/2026