Sebastien Moutton
Overview
Explore the profile of Sebastien Moutton including associated specialties, affiliations and a list of published articles.
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93
Citations
1212
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Recent Articles
1.
Carapito R, Molitor A, Pavinato L, Skeyni A, Lambert M, Pichot A, et al.
Eur J Hum Genet
. 2024 Dec;
PMID: 39738822
RICTOR is a key component of the mTORC2 signaling complex which is involved in the regulation of cell growth, proliferation and survival. RICTOR is highly expressed in neurons and is...
2.
Van der Sluijs P, Moutton S, Dingemans A, Weis D, Levy M, Boycott K, et al.
Genet Med
. 2024 Oct;
27(1):101283.
PMID: 39355979
Purpose: ARID1A/ARID1B haploinsufficiency leads to Coffin-Siris syndrome, duplications of ARID1A lead to a distinct clinical syndrome, whilst ARID1B duplications have not yet been linked to a phenotype. Methods: We collected...
3.
Thauvin-Robinet C, Garde A, Delanne J, Racine C, Rousseau T, Simon E, et al.
Prenat Diagn
. 2024 Aug;
44(10):1179-1197.
PMID: 39138116
Objective: Prenatal exome sequencing (pES) is now commonly used in clinical practice. It can be used to identifiy an additional diagnosis in around 30% of fetuses with structural defects and...
4.
Viora-Dupont E, Robert F, Chassagne A, Pelissier A, Staraci S, Sanlaville D, et al.
Eur J Hum Genet
. 2024 May;
32(9):1166-1183.
PMID: 38802530
Generation and subsequently accessibility of secondary findings (SF) in diagnostic practice is a subject of debate around the world and particularly in Europe. The French FIND study has been set...
5.
Paul M, Michener S, Pan H, Chan H, Pfliger J, Rosenfeld J, et al.
Am J Hum Genet
. 2024 May;
111(6):1239.
PMID: 38723631
No abstract available.
6.
Paul M, Michener S, Pan H, Chan H, Pfliger J, Rosenfeld J, et al.
Am J Hum Genet
. 2024 Mar;
111(4):805.
PMID: 38508193
No abstract available.
7.
Lecoquierre F, Punt A, Ebstein F, Wallaard I, Verhagen R, Studencka-Turski M, et al.
Genet Med
. 2024 Mar;
26(6):101119.
PMID: 38465576
Purpose: Fem1 homolog B (FEM1B) acts as a substrate recognition subunit for ubiquitin ligase complexes belonging to the CULLIN 2-based E3 family. Several biological functions have been proposed for FEM1B,...
8.
Paul M, Michener S, Pan H, Chan H, Pfliger J, Rosenfeld J, et al.
Am J Hum Genet
. 2024 Jan;
111(1):96-118.
PMID: 38181735
PPFIA3 encodes the protein-tyrosine phosphatase, receptor-type, F-polypeptide-interacting-protein-alpha-3 (PPFIA3), which is a member of the LAR-protein-tyrosine phosphatase-interacting-protein (liprin) family involved in synapse formation and function, synaptic vesicle transport, and presynaptic active...
9.
Picketts D, Mirzaa G, Yan K, Relator R, Timpano S, Yalcin B, et al.
Res Sq
. 2023 Oct;
PMID: 37841849
Pathogenic variants in ATP-dependent chromatin remodeling proteins are a recurrent cause of neurodevelopmental disorders (NDDs). The NURF complex consists of BPTF and either the SNF2H () or SNF2L () ISWI-chromatin...
10.
Lanvin P, Goronflot T, Isidor B, Nizon M, Durand B, El Chehadeh S, et al.
Am J Med Genet A
. 2023 Sep;
194(1):9-16.
PMID: 37740550
DYRK1A Syndrome (OMIM #614104) is caused by pathogenic variations in the DYRK1A gene located on 21q22. Haploinsufficiency of DYRK1A causes a syndrome with global psychomotor delay and intellectual disability. Low...