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Benoit Mazel

6PUBLICATIONS

98CO-AUTHORS

Epigenetics (incl. genome methylation and epigenomics)Gene expression (incl. microarray and other genome-wide approaches)NeurogeneticsCancer geneticsNeonatology

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Publications (6)

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|Jul 28, 2025

Mechanistic insights into 16p13.3 microdeletions encompassing TBC1D24 and ATP6V0C through advanced sequencing approaches.

Benoit Mazel, Emilia Aisha Coleman, Justine Rousseau

|Sep 19, 2024

Germline mutations in a G protein identify signaling cross-talk in T cells.

Hyoungjun Ham, Huie Jing, Ian T Lamborn

|Mar 08, 2024

FOXG1 variants can be associated with milder phenotypes than congenital Rett syndrome with unassisted walking and language development.

Benoit Mazel, Julian Delanne, Aurore Garde

|Sep 11, 2023

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

|Feb 06, 2023

The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant.

Mio Aerden, Anne-Sophie Denommé-Pichon, Dominique Bonneau

|Sep 09, 2022

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

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Frequent Collaborators

4 joint publications

Laurence Faivre

2 joint publications

Ange-Line Bruel

1 joint publications

Florence Roucher-Boulez

1 joint publications

Mio Aerden

1 joint publications

Anne-Sophie Denommé-Pichon

1 joint publications

Christophe Philippe

1 joint publications

Frédéric Tran Mau-Them

1 joint publications

Éléonore Viora-Dupont

1 joint publications

Antonio Vitobello

1 joint publications

Amélie Piton

Frequent Collaborators

4 joint publications

Laurence Faivre

2 joint publications

Ange-Line Bruel

1 joint publications

Florence Roucher-Boulez

1 joint publications

Mio Aerden

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