Laetitia Kermasson

Most-cited papers

1. An in vivo genetic reversion highlights the crucial role of Myb-Like, SWIRM, and MPN domains 1 (MYSM1) in human hematopoiesis and lymphocyte differentiation.

   T. le Guen, F. Touzot, I. André-Schmutz, C. Lagresle-Peyrou +15 more

   2015Journal of Allergy and Clinical Immunology73 citations

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2. EFL1 mutations impair eIF6 release to cause Shwachman-Diamond syndrome.

   Shengjiang Tan, Laetitia Kermasson, Angela Hoslin, Pekka Jaako +17 more

   2019Blood68 citations Open access

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3. Sonic Hedgehog Is a Remotely Produced Cue that Controls Axon Guidance Trans-axonally at a Midline Choice Point.

   Jimmy Peng, P. Fabre, Tiphaine Dolique, Shannon M. Swikert +3 more

   2018Neuron66 citations Open access

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4. Somatic genetic rescue of a germline ribosome assembly defect

   Shengjiang Tan, Laetitia Kermasson, C. Hilcenko, V. Kargas +33 more

   2021Nature Communications65 citations Open access

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5. NHP2 deficiency impairs rRNA biogenesis and causes pulmonary fibrosis and Høyeraal-Hreidarsson syndrome.

   M. Benyelles, M. O'Donohue, Laetitia Kermasson, E. Lainey +20 more

   2020Human Molecular Genetics52 citations

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6. PAXX and Xlf interplay revealed by impaired CNS development and immunodeficiency of double KO mice

   V. Abramowski, O. Etienne, R. Elsaid, Jun-Jie Yang +10 more

   2017Cell Death and Differentiation47 citations Open access

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7. Impaired telomere integrity and rRNA biogenesis in PARN‐deficient patients and knock‐out models

   M. Benyelles, Harikleia Episkopou, M. O'Donohue, Laetitia Kermasson +11 more

   2019EMBO Molecular Medicine43 citations Open access

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8. Inherited human Apollo deficiency causes severe bone marrow failure and developmental defects

   Laetitia Kermasson, D. Churikov, Aya Awad, Riham Smoom +18 more

   2022Blood33 citations Open access

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9. Extended clinical and genetic spectrum associated with biallelic RTEL1 mutations.

   F. Touzot, Laetitia Kermasson, Laurent Jullien, D. Moshous +14 more

   2016Blood Advances25 citations Open access

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10. Mutations of the RTEL1 Helicase in a Hoyeraal‐Hreidarsson Syndrome Patient Highlight the Importance of the ARCH Domain

    Laurent Jullien, C. Kannengiesser, Laetitia Kermasson, V. Cormier-Daire +6 more

    2016Human Mutation21 citations Open access

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11. A Disease-Causing Single Amino Acid Deletion in the Coiled-Coil Domain of RAD50 Impairs MRE11 Complex Functions in Yeast and Humans

    Marie Chansel-Da Cruz, M. Hohl, Ilaria Ceppi, Laetitia Kermasson +7 more

    2020Cell Reports18 citations Open access

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12. Characterization of novel mutations in the TEL-patch domain of the telomeric factor TPP1 associated with telomere biology disorders.

    Alexis Bertrand, Ibrahima Ba, Laetitia Kermasson, Vithura Pirabakaran +14 more

    2024Human Molecular Genetics11 citations

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13. Heterozygous RPA2 variant as a novel genetic cause of telomere biology disorders

    Rima Kochman, Ibrahima Ba, Maïlyn Yates, Vithura Pirabakaran +21 more

    2024Genes & Development11 citations Open access

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14. Characterization of an A-kinase anchoring protein-like suggests an alternative way of PKA anchoring in Plasmodium falciparum

    Kossiwa Bandje, Bernina Naissant, P. Bigey, Murielle Lohezic +8 more

    2016Malaria Journal7 citations Open access

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15. [RTEL1 (regulator of telomere elongation helicase 1), a DNA helicase essential for genome stability].

    T. le Guen, Laurent Jullien, M. Schertzer, A. Lefebvre +4 more

    2013Medecine sciences : M/S6 citations Open access

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16. Human oncostatin M deficiency underlies an inherited severe bone marrow failure syndrome

    A. Garrigue, Laetitia Kermasson, Sandrine Susini, I. Fert +18 more

    2025Journal of Clinical Investigation5 citations Open access

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17. Somatic genetic rescue in ZCCHC8-associated telomere biology disorders

    Sophie De Tocqueville, F. Donaires, Nicholas F. DeCleene, Ibrahima Ba +25 more

    2025Blood5 citations Open access

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18. DCLRE1B/Apollo germline mutations associated with renal cell carcinoma impair telomere protection.

    Charlie Bories, Thomas Lejour, Florine Adolphe, Laetitia Kermasson +13 more

    2024Biochimica et Biophysica Acta - Molecular Basis of Disease5 citations Open access

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19. Long‐term assessment of haematological recovery following somatic genetic rescue in a MYSM1‐deficient patient: Implications for in vivo gene therapy

    Sophie de Tocqueville, Emmanuel Martin, Q. Riller, Laetitia Kermasson +10 more

    2024British Journal of Haematology2 citations Open access

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20. Functional impact of the eIF6 N106S mutation on ribosome biogenesis in wild type and Shwachman–Diamond syndrome cells

    Alexis Bertrand, Sarah Le Page, Vithura Pirabakaran, Laetitia Kermasson +5 more

    2026Molecular Medicine1 citations Open access

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21. Publisher Correction: Somatic genetic rescue of a germline ribosome assembly defect

    Sheng-Jiang Tan, Laetitia Kermasson, C. Hilcenko, V. Kargas +33 more

    2022Nature Communications0 citations Open access

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22. Somatic genetic rescue of a germline ribosome assembly defect 2

    Sheng-Jiang Tan, Laetitia Kermasson, C. Hilcenko, V. Kargas +35 more

    20210 citations

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