Publications by authors named "Benoit Mazel"

Claim this Profile
M
Mechanistic insights into 16p13.3 microdeletions encompassing TBC1D24 and ATP6V0C through advanced sequencing approaches.
Benoit Mazel, Emilia Aisha Coleman, Justine Rousseau, Senthilkumar Kailasam, Norbert Fonya Ajeawung

Eur J Hum Genet· September 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
F
FOXG1 variants can be associated with milder phenotypes than congenital Rett syndrome with unassisted walking and language development.
Benoit Mazel, Julian Delanne, Aurore Garde, Caroline Racine, Ange-Line Bruel

Am J Med Genet B Neuropsychiatr Genet· September 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
P
Possible incomplete penetrance of Xq28 int22h-1/int22h-2 duplication.
Alexis Billes, Mathilde Pujalte, Guillaume Jedraszak, Daniel Amsallem, Elise Boudry-Labis, Benoît Mazel

Clin Genet· September 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
G
Germline mutations in a G protein identify signaling cross-talk in T cells.
Hyoungjun Ham, Huie Jing, Ian T Lamborn, Megan M Kober, Alexey Koval, Benoît Mazel

Science· September 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
Advancing precision oncology through systematic germline and tumor genetic analysis: The oncogenetic point of view on findings from a prospective multicenter clinical trial of 666 patients.
Benoit Mazel, Geoffrey Bertolone, Amandine Baurand, Elodie Cosset, Caroline Sawka

Cancer Med· September 2023

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
M
MYH7 p.(Arg1712Gln) is pathogenic founder variant causing hypertrophic cardiomyopathy with overall relatively delayed onset.
Luisa Marsili, Freyja H M van Lint, Francesco Russo, Karin Y van Spaendonck-Zwarts, Flavie Ader, Benoit Mazel

Neth Heart J· August 2023

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
T
The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant.
Mio Aerden, Anne-Sophie Denommé-Pichon, Dominique Bonneau, Ange-Line Bruel, Julian Delanne, Benoît Mazel

Eur J Hum Genet· April 2023

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
CAPRIN1 haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD.
Lisa Pavinato, Andrea Delle Vedove, Diana Carli, Marta Ferrero, Silvia Carestiato, Benoit Mazel

Brain· February 2023

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
E
Epileptic encephalopathy as a new feature of the sudden infant death with dysgenesis of the testes syndrome caused by TSPYL1 variants.
Benoit Mazel, Delphine Mallet, Florence Roucher-Boulez, Candace Ben Signor, Marie Bournez

Am J Med Genet A· December 2022

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
G
Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants.
Sayaka Kayumi, Luis A Pérez-Jurado, María Palomares, Sneha Rangu, Sarah E Sheppard, Benoit Mazel

Genet Med· November 2022

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
ADGRL1 haploinsufficiency causes a variable spectrum of neurodevelopmental disorders in humans and alters synaptic activity and behavior in a mouse model.
Antonio Vitobello, Benoit Mazel, Vera G Lelianova, Alice Zangrandi, Evelina Petitto

Am J Hum Genet· August 2022

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
CDK13-related disorder: Report of a series of 18 previously unpublished individuals and description of an epigenetic signature.
Flavien Rouxel, Raissa Relator, Jennifer Kerkhof, Haley McConkey, Michael Levy, Benoit Mazel

Genet Med· May 2022

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
M
Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction.
Joery den Hoed, Elke de Boer, Norine Voisin, Alexander J M Dingemans, Nicolas Guex, Benoît Mazel

Am J Hum Genet· February 2021

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis