Roseline Caumes
Overview
Explore the profile of Roseline Caumes including associated specialties, affiliations and a list of published articles.
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25
Citations
279
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Recent Articles
1.
Loberti L, Adamo L, Antolini E, Casamassima G, Destree A, Brunetti-Pierri N, et al.
Genet Med
. 2025 Feb;
:101375.
PMID: 39953909
Purpose: AUTS2-related syndrome is a condition characterized by developmental delay, autism spectrum disorder, and intellectual disability. From alternative promoters AUTS2 encodes two distinct long and short isoforms encoding a putative...
2.
Plante-Bordeneuve P, Boussion S, Caumes R, Rama M, Thuillier C, Boute-Benejean O, et al.
Eur J Med Genet
. 2024 Dec;
73:104987.
PMID: 39709004
The X-linked NONO gene encodes Non-Pou Domain-Containing Octamer-Binding Protein, a multifunctional member of the DBHS family involved in transcriptional regulation, RNA splicing and DNA repair. Pathogenic variants in NONO cause...
3.
Kraft F, Rodriguez-Aliaga P, Yuan W, Franken L, Zajt K, Hasan D, et al.
Science
. 2024 Oct;
386(6721):516-525.
PMID: 39480921
Malformations of the brain are common and vary in severity, from negligible to potentially fatal. Their causes have not been fully elucidated. Here, we report pathogenic variants in the core...
4.
Cali E, Quirin T, Rocca C, Efthymiou S, Riva A, Marafi D, et al.
Genet Med
. 2024 Sep;
:101251.
PMID: 39275948
Purpose: This study aims to comprehensively delineate the phenotypic spectrum of ACTL6B-related disorders, previously associated with both autosomal recessive and autosomal dominant neurodevelopmental disorders. Molecularly, the role of the nucleolar...
5.
Plante-Bordeneuve P, Boussion S, Rama M, Brunelle P, Thuillier C, Vanlerberghe C, et al.
Am J Med Genet A
. 2024 Jul;
194(12):e63820.
PMID: 38997820
Recent advances in the understanding of infantile developmental epileptic encephalopathies (IDEE) have revealed the association of biallelic pathogenic variants in UGDH. In this study, we report two novel combinations identified...
6.
Gokce-Samar Z, Vetro A, de Bellescize J, Pisano T, Monteiro L, Penaud N, et al.
Neurology
. 2024 Jan;
102(2):e207945.
PMID: 38165337
Background And Objectives: Heterozygous variants in RAR-related orphan receptor B () have recently been associated with susceptibility to idiopathic generalized epilepsy. However, few reports have been published so far describing...
7.
Kassabian B, Levy A, Gardella E, Aledo-Serrano A, Ananth A, Brea-Fernandez A, et al.
Epilepsia
. 2023 Dec;
65(4):1029-1045.
PMID: 38135915
Objective: The postsynaptic density protein of excitatory neurons PSD-95 is encoded by discs large MAGUK scaffold protein 4 (DLG4), de novo pathogenic variants of which lead to DLG4-related synaptopathy. The...
8.
Schmetz A, Ludecke H, Surowy H, Sivalingam S, Bruel A, Caumes R, et al.
Hum Genet
. 2023 Dec;
143(1):71-84.
PMID: 38117302
Coffin-Siris syndrome (CSS) is a rare multisystemic autosomal dominant disorder. Since 2012, alterations in genes of the SWI/SNF complex were identified as the molecular basis of CSS, studying largely pediatric...
9.
Husson T, Lecoquierre F, Nicolas G, Richard A, Afenjar A, Audebert-Bellanger S, et al.
Eur J Hum Genet
. 2023 Oct;
32(2):190-199.
PMID: 37872275
Variants of uncertain significance (VUS) are a significant issue for the molecular diagnosis of rare diseases. The publication of episignatures as effective biomarkers of certain Mendelian neurodevelopmental disorders has raised...
10.
Verebi C, Caumes R, Chantot-Bastaraud S, Deburgrave N, Orhant L, Vaucouleur N, et al.
Neuromuscul Disord
. 2023 Mar;
33(5):367-370.
PMID: 36996638
Uniparental isodisomy is a condition where both chromosomes of a pair are inherited from one parental homologue. If a deleterious variant is present on the duplicated chromosome, its homozygosity can...