Sabine Sigaudy
Marseille, France
Last Updated: 09/26/2026
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Found 84 publications
Refined genotype-phenotype correlations in neurofibromatosis type 1 patients with NF1 point variants.
Journal: Journal of medical genetics
Published: March 14, 2025
Expanding the molecular spectrum of aggrecanopathies: exploring 24 patients with ACAN significant variants.
Journal: European journal of human genetics : EJHG
Published: March 13, 2025
Genome sequencing for the diagnosis of intellectual disability as a paradigm for rare diseases in the French healthcare setting: the prospective DEFIDIAG study.
Journal: Genome medicine
Published: December 11, 2024
Real-World Safety and Effectiveness of Vosoritide in Children with Achondroplasia: French Early Access Program.
Journal: Hormone research in paediatrics
Published: November 05, 2024
Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption.
Journal: Nature genetics
Published: October 02, 2024
Early-Onset Osteoporosis: Molecular Analysis in Large Cohort and Focus on the PLS3 Gene.
Journal: Calcified tissue international
Published: July 15, 2024
Extending the clinical spectrum of X-linked Tonne-Kalscheuer syndrome (TOKAS): new insights from the fetal perspective.
Journal: Journal of medical genetics
Published: January 05, 2024
Dermatological manifestations in Costello syndrome: A prospective multicentric study of 31 HRAS-positive variant patients.
Journal: Journal of the European Academy of Dermatology and Venereology : JEADV
Published: December 13, 2023
Prenatal exome sequencing, a powerful tool for improving the description of prenatal features associated with genetic disorders.
Journal: Prenatal diagnosis
Published: October 19, 2023
GPATCH11 variants cause mis-splicing and early-onset retinal dystrophy with neurological impairment.
GPATCH11 variants cause mis-splicing and early-onset retinal dystrophy with neurological impairment.
Journal: Nature communications
Published: October 09, 2023
The role of pediatric oncologist in prenatal diagnosis: A 10-year retrospective study at Assistance Publique Hôpitaux de Marseille (AP-HM).
Journal: Pediatric hematology and oncology
Published: August 21, 2023
Loss of NDST1 N-sulfotransferase activity is associated with autosomal recessive intellectual disability.
Journal: Human molecular genetics
Published: July 26, 2023
Last Updated: 09/26/2026