Roseline Caumes
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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
11.
Parenti I, Leitao E, Kuechler A, Villard L, Goizet C, Courdier C, et al.
Front Cell Dev Biol
. 2022 Dec;
10:1019715.
PMID: 36568968
Synapsin-I (SYN1) is a presynaptic phosphoprotein crucial for synaptogenesis and synaptic plasticity. Pathogenic variants are associated with variable X-linked neurodevelopmental disorders mainly affecting males. In this study, we expand on...
12.
Happ H, Sadleir L, Zemel M, de Valles-Ibanez G, Hildebrand M, McConkie-Rosell A, et al.
Neurology
. 2022 Oct;
100(6):e603-e615.
PMID: 36307226
Background And Objectives: encodes the voltage-gated potassium channel EAG2/Kv10.2. We aimed to delineate the neurodevelopmental and epilepsy phenotypic spectrum associated with de novo variants. Methods: We screened 893 individuals with...
13.
Smol T, Brunelle P, Caumes R, Boute-Benejean O, Thuillier C, Figeac M, et al.
Eur J Med Genet
. 2022 Sep;
65(11):104603.
PMID: 36049610
TRIT1 encodes a tRNA isopentenyl transferase that allows a strong interaction between the mini helix and the codon. Recent reports support the TRIT1 bi-allelic alterations as the cause of an...
14.
Jia X, Zhang S, Tan S, Du B, He M, Qin H, et al.
Sci Adv
. 2022 Aug;
8(33):eabo7112.
PMID: 35977029
Stress granules (SGs) are cytoplasmic assemblies in response to a variety of stressors. We report a new neurodevelopmental disorder (NDD) with common features of language problems, intellectual disability, and behavioral...
15.
Coursimault J, Guerrot A, Morrow M, Schramm C, Zamora F, Shanmugham A, et al.
Hum Genet
. 2021 Nov;
141(1):65-80.
PMID: 34748075
Pathogenic variants of the myelin transcription factor-1 like (MYT1L) gene include heterozygous missense, truncating variants and 2p25.3 microdeletions and cause a syndromic neurodevelopmental disorder (OMIM#616,521). Despite enrichment in de novo...
16.
Stamberger H, Hammer T, Gardella E, Vlaskamp D, Bertelsen B, Mandelstam S, et al.
Genet Med
. 2020 Nov;
23(2):363-373.
PMID: 33144681
Purpose: Pathogenic variants in the X-linked gene NEXMIF (previously KIAA2022) are associated with intellectual disability (ID), autism spectrum disorder, and epilepsy. We aimed to delineate the female and male phenotypic...
17.
Crow Y, Marshall H, Rice G, Seabra L, Jenkinson E, Baranano K, et al.
Am J Med Genet A
. 2020 Oct;
185(1):15-25.
PMID: 33029936
Biallelic mutations in SNORD118, encoding the small nucleolar RNA U8, cause leukoencephalopathy with calcifications and cysts (LCC). Given the difficulty in interpreting the functional consequences of variants in nonprotein encoding...
18.
Caumes R, Smol T, Thuillier C, Balerdi M, Lestienne-Roche C, Manouvrier-Hanu S, et al.
Eur J Med Genet
. 2020 Sep;
63(12):104072.
PMID: 32987185
SHANK2 code a scaffolding protein located at the postsynaptic membrane of glutamatergic neurons. To date, only nine patients were reported with a SHANK2-variation or microdeletion. Molecular anomalies were identified through...
19.
Smol T, Thuillier C, Boudry-Labis E, Dieux-Coeslier A, Duban-Bedu B, Caumes R, et al.
Neurogenetics
. 2019 Dec;
21(1):67-72.
PMID: 31823155
Microdeletions encompassing 14q11.2 locus, involving SUPT16H and CHD8, were shown to cause developmental delay, intellectual disability, autism spectrum disorders and macrocephaly. Variations leading to CHD8 haploinsufficiency or loss of function...
20.
Ghoumid J, Petit F, Boute-Benejean O, Frenois F, Cartigny M, Vanlerberghe C, et al.
Eur J Hum Genet
. 2017 Jun;
25(8):1011-1014.
PMID: 28589944
CHES (cerebellar hypoplasia with endosteal sclerosis) syndrome (OMIM#213002) associates hypomyelination, cerebellar atrophy, hypogonadism and hypodontia. So far, only five patients have been described. The condition is of neonatal onset. Patients...