Sylvie Mazoyer

Bron, France

Last Updated: 09/26/2026

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Found 94 publications

Expanding the clinical spectrum of RNU4ATAC-opathies: More frequent and diverse than assumed.

Expanding the clinical spectrum of RNU4ATAC-opathies: More frequent and diverse than assumed.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: October 01, 2025

Expanding the clinical spectrum of RNU4ATAC-opathies: more frequent and diverse than assumed.

Expanding the clinical spectrum of RNU4ATAC-opathies: more frequent and diverse than assumed.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: October 01, 2025

Author Correction: Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast-ovarian cancer susceptibility locus.

Author Correction: Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast-ovarian cancer susceptibility locus.

Journal: Nature communications

Published: September 09, 2025

A Taybi-Linder syndrome-related RTTN variant impedes neural rosette formation in human cortical organoids.

A Taybi-Linder syndrome-related RTTN variant impedes neural rosette formation in human cortical organoids.

Journal: PLoS genetics

Published: July 26, 2024

B-cell immune deficiency in twin sisters expands the phenotype of MOPDI.

B-cell immune deficiency in twin sisters expands the phenotype of MOPDI.

Journal: Clinical genetics

Published: February 26, 2024

PHGDH-related microcephalic dwarfism in two fetuses: Expanding the phenotypical spectrum of L-serine biosynthesis defect.

PHGDH-related microcephalic dwarfism in two fetuses: Expanding the phenotypical spectrum of L-serine biosynthesis defect.

Journal: European journal of medical genetics

Published: July 02, 2023

Deficiency of the minor spliceosome component U4atac snRNA secondarily results in ciliary defects in human and zebrafish.

Deficiency of the minor spliceosome component U4atac snRNA secondarily results in ciliary defects in human and zebrafish.

Journal: Proceedings of the National Academy of Sciences of the United States of America

Published: February 21, 2023

Mutations in the non-coding RNU4ATAC gene affect the homeostasis and function of the Integrator complex.

Mutations in the non-coding RNU4ATAC gene affect the homeostasis and function of the Integrator complex.

Journal: Nucleic acids research

Published: March 15, 2022

5' Region Large Genomic Rearrangements in the BRCA1 Gene in French Families: Identification of a Tandem Triplication and Nine Distinct Deletions with Five Recurrent Breakpoints.

5' Region Large Genomic Rearrangements in the BRCA1 Gene in French Families: Identification of a Tandem Triplication and Nine Distinct Deletions with Five Recurrent Breakpoints.

Journal: Cancers

Published: April 30, 2021

Altered regulation of BRCA1 exon 11 splicing is associated with breast cancer risk in carriers of BRCA1 pathogenic variants.

Altered regulation of BRCA1 exon 11 splicing is associated with breast cancer risk in carriers of BRCA1 pathogenic variants.

Journal: Human mutation

Published: March 24, 2021

Diagnostic chest X-rays and breast cancer risk among women with a hereditary predisposition to breast cancer unexplained by a BRCA1 or BRCA2 mutation.

Diagnostic chest X-rays and breast cancer risk among women with a hereditary predisposition to breast cancer unexplained by a BRCA1 or BRCA2 mutation.

Journal: Breast cancer research : BCR

Published: February 01, 2021

Gene- and pathway-level analyses of iCOGS variants highlight novel signaling pathways underlying familial breast cancer susceptibility.

Gene- and pathway-level analyses of iCOGS variants highlight novel signaling pathways underlying familial breast cancer susceptibility.

Journal: International journal of cancer

Published: September 17, 2020

Showing 1-12 of 94

Last Updated: 09/26/2026