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Neuron|January 19, 2018
Sonic Hedgehog Is a Remotely Produced Cue that Controls Axon Guidance Trans-axonally at a Midline Choice PointJimmy Peng, Pierre J Fabre, Tiphaine Dolique, et al.
Cell Reports|December 30, 2020
A Disease-Causing Single Amino Acid Deletion in the Coiled-Coil Domain of RAD50 Impairs MRE11 Complex Functions in Yeast and HumansMarie Chansel-Da Cruz, Marcel Hohl, Ilaria Ceppi, et al.
British Journal of Haematology|September 5, 2024
Long-term assessment of haematological recovery following somatic genetic rescue in a MYSM1-deficient patient: Implications for in vivo gene therapySophie de Tocqueville, Emmanuel Martin, Quentin Riller, et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease|March 2, 2024
DCLRE1B/Apollo germline mutations associated with renal cell carcinoma impair telomere protectionCharlie Bories, Thomas Lejour, Florine Adolphe, et al.
EMBO Molecular Medicine|July 6, 2019
Impaired telomere integrity and rRNA biogenesis in PARN-deficient patients and knock-out modelsManame Benyelles, Harikleia Episkopou, Marie-Françoise O'Donohue, et al.
Human Molecular Genetics|January 4, 2024
Characterization of novel mutations in the TEL-patch domain of the telomeric factor TPP1 associated with telomere biology disordersAlexis Bertrand, Ibrahima Ba, Laëtitia Kermasson, et al.
Blood|January 10, 2022
Inherited human Apollo deficiency causes severe bone marrow failure and developmental defectsLaëtitia Kermasson, Dmitri Churikov, Aya Awad, et al.
Blood|June 2, 2019
EFL1 mutations impair eIF6 release to cause Shwachman-Diamond syndromeShengjiang Tan, Laëtitia Kermasson, Angela Hoslin, et al.
Genes & Development|September 4, 2024
Heterozygous RPA2 variant as a novel genetic cause of telomere biology disordersRima Kochman, Ibrahima Ba, Maïlyn Yates, et al.
The Journal of Clinical Investigation|January 23, 2025
Human oncostatin M deficiency underlies an inherited severe bone marrow failure syndromeAlexandrine Garrigue, Laëtitia Kermasson, Sandrine Susini, et al.
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