Erika BRUNET and Patrick REVY

Principales publications (2014-2022) 



Kermasson L, Churikov D, Awad A, Smoom R, Lainey E, Touzot F, Audebert-Bellanger S, Haro S, Roger L, Costa E, Mouf M, Bottero A, Oleastro M, Abdo C, de Villartay JP, Géli V, Tzfati Y, Callebaut I, Danielian S, Soares G, Kannengiesser C, Revy P. Inherited human 1  Apollo deficiency causes severe bone marrow failure and developmental defects.  2022 Jan 10;blood.2021010791.

Babin L, Darchen A, Robert E, Aid Z, Borry R, Soudais C, Piganeau M, De Cian A, Giovannangeli C, Bawa O, Rigaud C, Scoazec JY, Couronné L, Veleanu L, Cieslak A, Asnafi V, Sibon D, Lamant L, Meggetto F, Mercher T, Brunet E. De novo generation of the NPM-ALK fusion recapitulates the pleiotropic phenotypes of ALK+ ALCL

Roch B, Abramowski V, Etienne O, Musilli S, David P, Charbonnier JB, Callebaut I, Boussin FD, de Villartay JP. An XRCC4 mutant mouse, a model for human X4 syndrome, reveals interplays with Xlf, PAXX, and ATM in lymphoid development. Elife. 2021;10:e69353

Sole A, Grossetête-Lalami S, Heintzé M, Babin L, Zaidi S, Revy P,Renouf B, De Cian A, Giovannangeli C, Pierre-Eugène C, Tomishima M, Jasin M, Grünewald T, Delattre O, Surdez D, Brunet E. Unraveling Ewing sarcoma tumorigenesis originating from patient-derived Mesenchymal Stem Cells. Cancer Research. 2021.canres.3837.

Musilli S,Abramowski V, Roch B and de Villartay JP An in vivo study of the impact of deficiency in the DNA repair proteins PAXX and XLF on development and maturation of the hemolymphoid system. J Biol Chem. 2020 Feb 21;295(8):2398-2406. doi: 10.1074/jbc.AC119.010924. Epub 2020 Jan 8.PMID: 31915249

Revy, P., C. Kannengiesser and A. Fischer (2019). Somatic genetic rescue in Mendelian haematopoietic diseases. NatRevGenet.(PMID:31186537) 

TanS, KermassonL, HoslinA, JaakoP, AcevedoArozenaA, LenglineE, RantaD, PoiréeM, FenneteauO, DucoulePointeH, FumagalliS, BeaupainB, NitschkéP, Bôle-FeysotC, deVillartayJP, Bellanné- ChantelotC, DonadieuJ, KannengiesserC, WarrenAJ, RevyP. EFL1 mutations impaireIF6 release to cause Shwachman-Diamond syndrome. Blood. (2019)Jul 18;134(3):277-290. doi: 10.1182/blood.2018893404. 

Benyelles, M.,H. Episkopou, M. F. O'Donohue, KermassonL. , P. Frange, F. Poulain, F. BurcuBelen, M. Polat, C. Bole-Feysot, F. Langa Vives, P. E. Gleizes, J.P. deVillartay, I. Callebaut, A. Decottignies and Revy, P. Impaired telomere integrity and rRNA biogenesis in PARN-deficient patients and knock- out models. EMBOMolMed. 2019 Jul;11(7):e10201. doi: 10.15252


RomeroPérezL, SurdezD, BrunetE,Delattre O, GrünewaldG. STAG Mutations in Cancer. 2019TrendsinCancer5 :506-520 


Roch, B., V. Abramowski, J. Chaumeiland,J.P. deVillartay . Cernunnos/Xlf Deficiency Results in Suboptimal V(D)J Recombination and Impaired Lymphoid Development in Mice. 2019 FrontImmunol10: 443. 


Berland, A.,J. Rosain, S. Kaltenbach, V. Allain, N. Mahlaoui, I. Melki, A. Fievet, C. Duboisd'Enghien, M. OuacheeChardin, L. Perrin, N. Auger, F. E. Cipe, A. Finocchi, F. Dogu, F. Suarez, D. Moshous, T. Leblanc, A. Belot, C. Fieschi, D. Boutboul, M. Malphettes, L. Galicier, E. Oksenhendler, S. Blanche, A. Fischer, P. Revy, D. Stoppa-Lyonnet, C. PicardandJ.P. deVillartay. PROMIDIS alpha: A T-cell receptor alpha signature associated with immunodeficiencies caused by V(D)J recombination defects. 2019JAllergyClinImmunol 143: 325-334 e322. 


Lesport, E., A. Ferster, A. Biver, B. Roch, N. Vasquez, N. Jabado, F. L. Vives, P. Revy, J. SoulierandJ.P. deVillartay. Reduced recruitment of 53BP1 during interstrandcrosslink repair is associated with genetically inherited attenuation of mitomycin C sensitivity in a family with Fanconi anemia. 2018 Oncotarget9: 3779-3793. 

Induction of Chromosomal Translocations with CRISPR-Cas9 and Other Nucleases: Understanding the Repair Mechanisms That Give Rise to Translocations. 
Brunet, E. andM. Jasin2018.AdvExpMedBiol1044: 15-25.

Babin, L., M. Piganeau, B. Renouf, K. Lamribet, C. Thirant, L. Deriano, T. Mercher, C. Giovannangeli and E. Brunet. Chromosomal Translocation Formation Is Sufficient to Produce Fusion Circular RNAs Specific to Patient Tumor Cells. 2018 iScience 5:19-29. 


Abramowski, V., O. Etienne, R. Elsaid, J. Yang, A. Berland, L. Kermasson, B. Roch, S. Musilli, J.P. Moussu, K. Lipson-Ruffert, P. Revy, A. Cumano, F. D. Boussin and J.P. deVillartay. PAXX and Xlf interplay revealed by impaired CNS development and immunodeficiency of double KO mice. 2018 CellDeathDiffer25: 444-452. 


Phillips A.F*, Millet A.R*, Tigano M, Dubois S.D., Crimmins H, Babin L, Charpentier M, Piganeau M, Brunet E*, and Sfeir A*. Single-Molecule Analysis of mtDNA Replication Uncoversthe Basis of the Common Deletion. 2017 MolCell65(3):527-538.e6.*co-firstandco-correspondingauthors.