Mathilde Lefebvre

6PUBLICATIONS
59CO-AUTHORS
Genetic immunologyFoetal development and medicineNeurology and neuromuscular diseasesCentral nervous systemGene expression (incl. microarray and other genome-wide approaches)
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Publications (6)

|Jan 08, 2025
In-Depth Phenotyping of PIGW-Related Disease and Its Role in 17q12 Genomic Disorder.

Agnese Feresin, Mathilde Lefebvre, Emilie Sjøstrøm

|Jun 07, 2024
Extending the clinical spectrum of X-linked Tonne-Kalscheuer syndrome (TOKAS): new insights from the fetal perspective.

Silvestre Cuinat, Chloé Quélin, Claire Effray

|Jun 21, 2023
BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients.

Camille Engel, Stéphanie Valence, Geoffroy Delplancq

|Jun 16, 2023
The temporal balance between self-renewal and differentiation of human neural stem cells requires the amyloid precursor protein.

Khadijeh Shabani, Julien Pigeon, Marwan Benaissa Touil Zariouh

|Aug 01, 2020
Genotype-first in a cohort of 95 fetuses with multiple congenital abnormalities: when exome sequencing reveals unexpected fetal phenotype-genotype correlations.

Mathilde Lefebvre, Ange-Line Bruel, Emilie Tisserant

|Sep 24, 2018
Extending the ALDH18A1 clinical spectrum to severe autosomal recessive fetal cutis laxa with corpus callosum agenesis.

Mathilde Lefebvre, Anne-Marie Beaufrere, Christine Francannet

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Frequent Collaborators

3 joint publications

Laurence Faivre

2 joint publications

Antonio Vitobello

2 joint publications

Anne-Sophie Denommé-Pichon

2 joint publications

Ange-Line Bruel