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Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome.
Tessadori F, Duran K, Knapp K, Fellner M; Deciphering Developmental Disorders Study; Smithson S, Beleza Meireles A, Elting MW, Waisfisz Q, O'Donnell-Luria A, Nowak C, Douglas J, Ronan A, Brunet T, Kotzaeridou U, Svihovec S, Saenz MS, Thiffault I, Del Viso F, Devine P, Rego S, Tenney J, van Haeringen A, Ruivenkamp CAL, Koene S, Robertson SP, Deshpande C, Pfundt R, Verbeek N, van de Kamp JM, Weiss JMM, Ruiz A, Gabau E, Banne E, Pepler A, Bottani A, Laurent S, Guipponi M, Bijlsma E, Bruel AL, Sorlin A, Willis M, Powis Z, Smol T, Vincent-Delorme C, Baralle D, Colin E, Revencu N, Calpena E, Wilkie AOM, Chopra M, Cormier-Daire V, Keren B, Afenjar A, Niceta M, Terracciano A, Specchio N, Tartaglia M, Rio M, Barcia G, Rondeau S, Colson C, Bakkers J, Mace PD, Bicknell LS, van Haaften G. Tessadori F, et al. Among authors: laurent s. Am J Hum Genet. 2022 Apr 7;109(4):750-758. doi: 10.1016/j.ajhg.2022.02.003. Epub 2022 Feb 23. Am J Hum Genet. 2022. PMID: 35202563 Free PMC article.
Molecular characterization of pathogenic OTOA gene conversions in hearing loss patients.
Laurent S, Gehrig C, Nouspikel T, Amr SS, Oza A, Murphy E, Vannier A, Béna FS, Carminho-Rodrigues MT, Blouin JL, Cao Van H, Abramowicz M, Paoloni-Giacobino A, Guipponi M. Laurent S, et al. Hum Mutat. 2021 Apr;42(4):373-377. doi: 10.1002/humu.24167. Epub 2021 Mar 14. Hum Mutat. 2021. PMID: 33492714 Free PMC article.
LARS2-Perrault syndrome: a new case report and literature review.
Carminho-Rodrigues MT, Klee P, Laurent S, Guipponi M, Abramowicz M, Cao-van H, Guinand N, Paoloni-Giacobino A. Carminho-Rodrigues MT, et al. Among authors: laurent s. BMC Med Genet. 2020 May 18;21(1):109. doi: 10.1186/s12881-020-01028-8. BMC Med Genet. 2020. PMID: 32423379 Free PMC article. Review.
Bi-allelic loss of ERGIC1 causes relatively mild arthrogryposis.
Marconi C, Lemmens L, Masclaux F, Mattioli F, Fluss J, Extermann P, Mendez P, Leuchter RH, Stathaki E, Laurent S, Hammar E, Vannier A, Varvagiannis K, Guipponi M, Sloan-Bena F, Blouin JL, Abramowicz M, Fokstuen S. Marconi C, et al. Among authors: laurent s. Clin Genet. 2021 Sep;100(3):329-333. doi: 10.1111/cge.14004. Epub 2021 Jun 14. Clin Genet. 2021. PMID: 34037256 Free PMC article.
NIBR-LTSi is a selective LATS kinase inhibitor activating YAP signaling and expanding tissue stem cells in vitro and in vivo.
Namoto K, Baader C, Orsini V, Landshammer A, Breuer E, Dinh KT, Ungricht R, Pikiolek M, Laurent S, Lu B, Aebi A, Schönberger K, Vangrevelinghe E, Evrova O, Sun T, Annunziato S, Lachal J, Redmond E, Wang L, Wetzel K, Capodieci P, Turner J, Schutzius G, Unterreiner V, Trunzer M, Buschmann N, Behnke D, Machauer R, Scheufler C, Parker CN, Ferro M, Grevot A, Beyerbach A, Lu WY, Forbes SJ, Wagner J, Bouwmeester T, Liu J, Sohal B, Sahambi S, Greenbaum LE, Lohmann F, Hoppe P, Cong F, Sailer AW, Ruffner H, Glatthar R, Humar B, Clavien PA, Dill MT, George E, Maibaum J, Liberali P, Tchorz JS. Namoto K, et al. Among authors: laurent s. Cell Stem Cell. 2024 Apr 4;31(4):554-569.e17. doi: 10.1016/j.stem.2024.03.003. Cell Stem Cell. 2024. PMID: 38579685
1,165 results