Présentation
Publications scientifiques
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2025Journal (source)Blood Cancer J
Telomere occupancy by TRF2 is altered by KIT mutations and correlates with ma...
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2021Journal (source)Cancer Res
Unraveling Ewing Sarcoma Tumorigenesis Originating from Patient-Derived Mesen...
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2020Journal (source)Hum Mol Genet
NHP2 deficiency impairs rRNA biogenesis and causes pulmonary fibrosis and Høy...
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2019Journal (source)Eur. Respir. J.
Regulator of telomere length 1 (RTEL1) mutations are associated with heteroge...
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2019Journal (source)Blood
EFL1 mutations impair eIF6 release to cause Shwachman-Diamond syndrome.
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2019Journal (source)Nat Commun
Defects in tA tRNA modification due to GON7 and YRDC mutations lead to Gallow...
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2019Journal (source)EMBO Mol Med
Impaired telomere integrity and rRNA biogenesis in PARN-deficient patients an...
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2019Journal (source)Nat. Rev. Genet.
Somatic genetic rescue in Mendelian haematopoietic diseases.
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Journal (source)J. Allergy Clin. Immunol.
PROMIDISα: A T-cell receptor α signature associated with immunodeficiencies c...
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2018Journal (source)Eur. Respir. J.
Shared genetic predisposition in rheumatoid arthritis-interstitial lung disea...
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2017Journal (source)Oncotarget
Reduced recruitment of 53BP1 during interstrand crosslink repair is associate...
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2017Journal (source)Cell Death Differ.
PAXX and Xlf interplay revealed by impaired CNS development and immunodeficie...
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2017Journal (source)Nat. Genet.
Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microc...
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2015Journal (source)J Allergy Clin Immunol
An in vivo genetic reversion highlights the crucial role of Myb-Like, SWIRM, ...