Maud Blanluet, Julien Masliah-Planchon, Irina Giurgea, Franck Bielle, Élodie Girard, et al.. SHH medulloblastoma in a young adult with a TCF4 germline pathogenic variation. Acta Neuropathologica, 2019, 137 (4), pp.675-678. ⟨10.1007/s00401-019-01983-4⟩. ⟨hal-02347134⟩

Hayet Ait Ghezala, Béatrice Jolles, Samia Salhi, Katia Castrillo, Wassila Carpentier, et al.. Translation termination efficiency modulates ATF4 response by regulating ATF4 mRNA translation at 5' short ORFs. Nucleic Acids Research, 2012, 40 (19), pp.9557 - 9570. ⟨10.1093/nar/gks762⟩. ⟨hal-01544180⟩

Cyril Dalmasso, Wassila Carpentier, Laurence Meyer, Christine Rouzioux, Cécile Goujard, et al.. Distinct Genetic Loci Control Plasma HIV-RNA and Cellular HIV-DNA Levels in HIV-1 Infection: The ANRS Genome Wide Association 01 Study. PLoS ONE, 2008, 3 (12), pp.e3907. ⟨10.1371/journal.pone.0003907⟩. ⟨hal-02566809⟩

Christel Depienne, Delphine Bouteiller, Boris Keren, Emmanuel Cheuret, Karine Poirier, et al.. Sporadic Infantile Epileptic Encephalopathy Caused by Mutations in PCDH19 Resembles Dravet Syndrome but Mainly Affects Females. PLoS Genetics, 2009, 5 (2), pp.e1000381. ⟨10.1371/journal.pgen.1000381⟩. ⟨hal-02566769⟩

Aurélien Bataille, Pierre Galichon, Nadjim Chelghoum, Badreddine Mohand Oumoussa, Marie-Julia Ziliotis, et al.. Increased Fatty Acid Oxidation in Differentiated Proximal Tubular Cells Surviving a Reversible Episode of Acute Kidney Injury. Cellular Physiology and Biochemistry, 2018, 47 (4), pp.1338 - 1351. ⟨10.1159/000490819⟩. ⟨hal-02565135⟩

Marjorie Poggi, Matthias Canault, Marie Favier, Ernest Turro, Paul Saultier, et al.. Germline variants in ETV6 underlie reduced platelet formation, platelet dysfunction and increased levels of circulating CD34+ progenitors.. Haematologica, 2017, 102 (2), pp.282-294. ⟨10.3324/haematol.2016.147694⟩. ⟨hal-01478347⟩

Aurore Siegfried, Julien Masliah-Planchon, Franck-Emmanuel Roux, Delphine Larrieu-Ciron, Gaëlle Pierron, et al.. Brain tumor with an ATXN1-NUTM1 fusion gene expands the histologic spectrum of NUTM1-rearranged neoplasia. Acta Neuropathologica Communications, 2019, 7 (1), pp.220. ⟨10.1186/s40478-019-0870-8⟩. ⟨inserm-02440672⟩

Emmanuelle Uro-Coste, Julien Masliah-Planchon, Aurore Siegfried, Maud Blanluet, Sander Lambo, et al.. ETMR-like infantile cerebellar embryonal tumors in the extended morphologic spectrum of DICER1-related tumors. Acta Neuropathologica, 2018, ⟨10.1007/s00401-018-1935-7⟩. ⟨hal-01984537⟩

Kévin Baranger, Manuel van Gijsel-Bonnello, Delphine Stephan, Wassila Carpentier, Santiago Rivera, et al.. Long-Term Pantethine Treatment Counteracts Pathologic Gene Dysregulation and Decreases Alzheimer’s Disease Pathogenesis in a Transgenic Mouse Model. Neurotherapeutics, 2019, ⟨10.1007/s13311-019-00754-z⟩. ⟨hal-02339537⟩

Maguelonne Roux, Claire Perret, Eva Feigerlova, Badreddine Mohand Oumoussa, Pierre-Jean Saulnier, et al.. Plasma levels of hsa-miR-152-3p are associated with diabetic nephropathy in patients with type 2 diabetes. Nephrology Dialysis Transplantation, 2018, 33 (12), pp.2201-2207. ⟨10.1093/ndt/gfx367⟩. ⟨hal-02272317⟩