Jérémie Mortreux

9PUBLICATIONS
157CO-AUTHORS
Infant and child healthNeurology and neuromuscular diseasesMedical molecular engineering of nucleic acids and proteinsGenetic immunologyCell and nuclear division
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Publications (9)

|May 26, 2026
Burst-Suppression EEG in Early Infantile Developmental and Epileptic Encephalopathies: Phenotype, Genotype, and Outcome.

|Mar 30, 2026
Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.

Elsa Leitão, Amandine Santini, Benjamin Cogne

|Jan 30, 2026
Expanding the phenotypic spectrum of MECOM-associated syndrome: rare variants are associated with syndromic pulmonary arterial hypertension.

Carrie L Welch, Meriel McEntagart, Shahin Moledina

|Jun 26, 2025
MPDZ Pathogenic Variants Cause Obstructive Ventriculomegaly Related to Diencephalosynapsis and Third Ventricle Atresia.

Sara Cabet, Jean-François Ghersi-Egea, Suonavy Khung-Savatovsky

|Feb 26, 2025
Homozygous loss of function variant in LMNB2 gene causes major brain malformation and perinatal death.

Camille Desgrouas, Igor Deryabin, Clémence Duvillier

|Nov 17, 2020
Germline AGO2 mutations impair RNA interference and human neurological development.

Davor Lessel, Daniela M Zeitler, Margot R F Reijnders

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Frequent Collaborators

3 joint publications

Gaetan Lesca

2 joint publications

Svetlana Gorokhova

2 joint publications

Paul Rollier

2 joint publications

Gael Nicolas