Concepedia
Author
Benoît Mazel
Also Known As
Benoit Mazel, Benoît Mazel, Marion Mathieu, Mazel, Benoit
17
Publications
278
Citations
8
H-Index
24
Concepts
All Affiliations
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4
136
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112
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All Concepts
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240
Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction
Joery den Hoed, Elke de Boer, Norine Voisin, +94
The American Journal of Human Genetics
Neurodevelopmental DisordersDifferent Neurodevelopmental DisordersNeurodegenerative DiseasesDevelopmental BiologyMendelian Disorder +13
2021
54
Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants
Sayaka Kayumi, Luis A. Pérez‐Jurado, María Palomares‐Bralo, +72
Genetics in Medicine
2022
48
ADGRL1 haploinsufficiency causes a variable spectrum of neurodevelopmental disorders in humans and alters synaptic activity and behavior in a mouse model
Antonio Vitobello, Benoît Mazel, Vera G. Lelianova, +37
Neurodevelopmental DisordersKnockout MouseSynaptic PlasticityAdgrl1 HaploinsufficiencyDevelopmental Biology +10
40
<i>CAPRIN1</i> haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD
Lisa Pavinato, Andrea Delle Vedove, Diana Carli, +31
Brain
37
CDK13-related disorder: Report of a series of 18 previously unpublished individuals and description of an epigenetic signature
Flavien Rouxel, Raissa Relator, Jennifer Kerkhof, +31
ChromatinGenetic DisorderCdk13-related DisorderGeneticsEpigenetic Signature +10
Germline mutations in a G protein identify signaling cross-talk in T cells
Hyoungjun Ham, Huie Jing, Ian T. Lamborn, +98
Science
2024
19
The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant
Mio Aerden, Anne‐Sophie Denommé‐Pichon, Dominique Bonneau, +54
European Journal of Human Genetics
Developmental AnomalyDevelopmental BiologyBrain StructureBrain DevelopmentNeuroanatomy +13
2023
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