Sophie Nambot

22PUBLICATIONS
286CO-AUTHORS
Microelectromechanical systems (MEMS)Neurology and neuromuscular diseasesMedical infection agents (incl. prions)Gene expression (incl. microarray and other genome-wide approaches)Epigenetics (incl. genome methylation and epigenomics)
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Publications (22)

|May 18, 2026
MLH1 Constitutional Epimutation Screening Requires Highly Sensitive Assays to Identify Lynch Syndrome Patients With Very Low Mosaic Methylation Level.

|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

|Nov 10, 2025
Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition.

Ghayda M Mirzaa, Keqin Yan, Raissa Relator

|Oct 03, 2025
Myeloid neoplasms risks for germline DDX41 pathogenic variants carriers.

Marie-Charlotte Villy, Youenn Drouet, Lise Larcher

|Sep 19, 2025
Systematic Genetic Assessment in Young Patients With Cryptogenic Stroke: The ES-EASY project.

Loraine Mania-Pâris, Antonio Vitobello, Hana Safraou

|Apr 04, 2025
Reanalysis of unsolved prenatal exome sequencing for structural defects: diagnostic yield and contribution of postnatal/postmortem features.

Christel Thauvin-Robinet, Aurore Garde, Maud Favier

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Frequent Collaborators

10 joint publications

Ange-Line Bruel

10 joint publications

Antonio Vitobello

7 joint publications

Anne-Sophie Denommé-Pichon

7 joint publications

Christophe Philippe