Clement Sauvestre
Bordeaux, France
Last Updated: 09/26/2026
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Found 9 publications
Novel Variants in PUS7 Associated With Intellectual Disability and Growth Retardation: Expanding the Clinical Spectrum in 13 Patients.
Journal: Clinical genetics
Published: February 26, 2026
Novel Variants in PUS7 Associated With Intellectual Disability and Growth Retardation: Expanding the Clinical Spectrum in 13 Patients.
Journal: Clinical genetics
Published: February 26, 2026
Exploring RBFOX2 Haploinsufficiency: A New Genetic Link to Hypoplastic Left Heart Syndrome.
Journal: Circulation. Genomic and precision medicine
Published: November 12, 2025
DNA methylation signature and clinical delineation of PACS1-related disorder in 24 unreported individuals.
Journal: European journal of human genetics : EJHG
Published: September 19, 2025
MYH6 in Congenital Heart Defects: A Genotype-Phenotype Characterization in a French Cohort.
Journal: Pediatric cardiology
Published: August 02, 2025
Comparative Analysis of Deep Learning-Based Algorithms for Peptide Structure Prediction.
Journal: Proteins
Published: April 26, 2025
Radiculomegaly as a key clinical feature in oculo-facio-cardio-dental (OFCD) syndrome: a case report with a novel truncating variant in BCOR gene.
Journal: Cardiology in the young
Published: October 11, 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
Neonatal salt wasting syndrome: Aldosterone synthase deficiency caused by a new splicing variant in CYP11B2.
Journal: Archives de pediatrie : organe officiel de la Societe francaise de pediatrie
Published: June 07, 2023
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Last Updated: 09/26/2026