Sophie Coutant
Overview
Explore the profile of Sophie Coutant including associated specialties, affiliations and a list of published articles.
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Articles
32
Citations
401
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Recent Articles
1.
Cassinari K, Rovelet-Lecrux A, Derambure C, Vezain M, Coutant S, Richard A, et al.
Genes Dis
. 2025 Feb;
12(3):101386.
PMID: 39917313
No abstract available.
2.
Li-Fraumeni syndrome: a germline splice variant reveals a novel physiological alternative transcript
Louis J, Rolain M, Levacher C, Baudry K, Pujol P, Ruminy P, et al.
J Med Genet
. 2025 Jan;
62(3):160-168.
PMID: 39788694
Background: Li-Fraumeni syndrome (LFS) predisposes individuals to a wide range of cancers from childhood onwards, underscoring the crucial need for accurate interpretation of germline variants for optimal clinical management of...
3.
Snanoudj S, Derambure C, Zhang C, Yen N, Lesueur C, Coutant S, et al.
Heliyon
. 2024 Aug;
10(14):e34357.
PMID: 39100494
Fabry disease (FD) is an X-linked lysosomal disease caused by an enzyme deficiency of alpha-galactosidase A (α-gal A). This deficiency leads to the accumulation of glycosphingolipids in lysosomes, resulting in...
4.
Lecoquierre F, Cassinari K, Drouot N, May A, Fourneaux S, Charbonnier F, et al.
Sci Rep
. 2024 Mar;
14(1):5289.
PMID: 38438430
While de novo variants (DNV) are overall at low risk of recurrence in subsequent pregnancies, a subset is at high risk due to parental mosaicism. Accurately identifying cases of parental...
5.
Lecoquierre F, Quenez O, Fourneaux S, Coutant S, Vezain M, Rolain M, et al.
Hum Genet
. 2023 Apr;
142(6):773-783.
PMID: 37076692
Exome sequencing (ES) has become the method of choice for diagnosing rare diseases, while the availability of short-read genome sequencing (SR-GS) in a medical setting is increasing. In addition, new...
6.
Levacher C, Viennot M, Drouet A, Beaussire L, Coutant S, Thery J, et al.
Cancers (Basel)
. 2023 Apr;
15(7).
PMID: 37046838
Breast cancer is a frequent disease for which the discovery of markers that enable early detection or prognostic assessment remains challenging. Circular RNAs (circRNAs) are single-stranded structures in closed loops...
7.
Grancher A, Beaussire L, Manfredi S, Le Malicot K, Dutherage M, Verdier V, et al.
Front Oncol
. 2022 Nov;
12:973167.
PMID: 36439476
Circulating tumor DNA (ctDNA) is reported to be promising in localized colorectal cancer (CRC). The present study aimed to retrospectively evaluate the impact of ctDNA in patients with a resected...
8.
Vezain M, Thauvin-Robinet C, Vial Y, Coutant S, Drunat S, Urtizberea J, et al.
Hum Genet
. 2022 Sep;
142(1):125-138.
PMID: 36138164
Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder resulting from biallelic alterations of the SMN1 gene: deletion, gene conversion or, in rare cases, intragenic variants. The disease severity...
9.
Coursimault J, Cassinari K, Lecoquierre F, Quenez O, Coutant S, Derambure C, et al.
Hum Mutat
. 2022 Jul;
43(12):1882-1897.
PMID: 35842780
Cornelia de Lange syndrome (CdLS; MIM# 122470) is a rare developmental disorder. Pathogenic variants in 5 genes explain approximately 50% cases, leaving the other 50% unsolved. We performed whole genome...
10.
Coursimault J, Goldenberg A, Nicolas G, Saugier-Veber P, Coutant S, Vincent A, et al.
Eur J Med Genet
. 2022 Jul;
65(9):104556.
PMID: 35781022
KDM5C encodes a demethylase of the histone H3 lysine 4 residue, involved in chromatin regulation and gene expression. Hemizygous KDM5C pathogenic variants cause X-linked intellectual disability of Claes-Jensen type. Because...