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Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals.
Layo-Carris DE, Lubin EE, Sangree AK, Clark KJ, Durham EL, Gonzalez EM, Smith S, Angireddy R, Wang XM, Weiss E, Mendoza-Londono R, Dupuis L, Damseh N, Velasco D, Valenzuela I, Codina-Solà M, Ziats C, Have J, Clarkson K, Steel D, Kurian M, Barwick K, Carrasco D, Dagli AI, Nowaczyk MJM, Hančárová M, Bendová Š, Prchalova D, Sedláček Z, Baxová A, Nowak CB, Douglas J, Chung WK, Longo N, Platzer K, Klöckner C, Averdunk L, Wieczorek D, Krey I, Zweier C, Reis A, Balci T, Simon M, Kroes HY, Wiesener A, Vasileiou G, Marinakis NM, Veltra D, Sofocleous C, Kosma K, Traeger Synodinos J, Voudris KA, Vuillaume ML, Gueguen P, Derive N, Colin E, Battault C, Au B, Delatycki M, Wallis M, Gallacher L, Majdoub F, Smal N, Weckhuysen S, Schoonjans AS, Kooy RF, Meuwissen M, Cocanougher BT, Taylor K, Pizoli CE, McDonald MT, James P, Roeder ER, Littlejohn R, Borja NA, Thorson W, King K, Stoeva R, Suerink M, Nibbeling E, Baskin S, L E Guyader G, Kaplan J, Muss C, Carere DA, Bhoj EJK, Bryant LM. Layo-Carris DE, et al. Among authors: gueguen p. Eur J Hum Genet. 2024 Apr 27. doi: 10.1038/s41431-024-01610-1. Online ahead of print. Eur J Hum Genet. 2024. PMID: 38678163 Free article.
Sweet ending: When genetics prevent a dramatic CDG diagnostic mistake.
Civit A, Gueguen P, Blasco H, Benz-de-Bretagne I, Lebredonchel É, Dingeo G, Jeanne M, Rouxel S, Tardieu M, Raynor A, Labarthe F, Bruneel A, Goetz V. Civit A, et al. Among authors: gueguen p. Clin Chim Acta. 2023 Nov 1;551:117620. doi: 10.1016/j.cca.2023.117620. Epub 2023 Oct 29. Clin Chim Acta. 2023. PMID: 38375626
SpliceAI-visual: a free online tool to improve SpliceAI splicing variant interpretation.
de Sainte Agathe JM, Filser M, Isidor B, Besnard T, Gueguen P, Perrin A, Van Goethem C, Verebi C, Masingue M, Rendu J, Cossée M, Bergougnoux A, Frobert L, Buratti J, Lejeune É, Le Guern É, Pasquier F, Clot F, Kalatzis V, Roux AF, Cogné B, Baux D. de Sainte Agathe JM, et al. Among authors: gueguen p. Hum Genomics. 2023 Feb 10;17(1):7. doi: 10.1186/s40246-023-00451-1. Hum Genomics. 2023. PMID: 36765386 Free PMC article. Review.
Semi-supervised integration of single-cell transcriptomics data.
Andreatta M, Hérault L, Gueguen P, Gfeller D, Berenstein AJ, Carmona SJ. Andreatta M, et al. Among authors: gueguen p. Nat Commun. 2024 Jan 29;15(1):872. doi: 10.1038/s41467-024-45240-z. Nat Commun. 2024. PMID: 38287014 Free PMC article.
SUV39H1 Ablation Enhances Long-term CAR T Function in Solid Tumors.
López-Cobo S, Fuentealba JR, Gueguen P, Bonté PE, Tsalkitzi K, Chacón I, Glauzy S, Bohineust A, Biquand A, Silva L, Gouveia Z, Goudot C, Perez F, Saitakis M, Amigorena S. López-Cobo S, et al. Among authors: gueguen p. Cancer Discov. 2024 Jan 12;14(1):120-141. doi: 10.1158/2159-8290.CD-22-1350. Cancer Discov. 2024. PMID: 37934001
Author Correction: CD8+T cell responsiveness to anti-PD-1 is epigenetically regulated by Suv39h1 in melanomas.
Niborski LL, Gueguen P, Ye M, Thiolat A, Ramos RN, Caudana P, Denizeau J, Colombeau L, Rodriguez R, Goudot C, Luccarini JM, Soudé A, Bournique B, Broqua P, Pace L, Baulande S, Sedlik C, Quivy JP, Almouzni G, Cohen JL, Zueva E, Waterfall JJ, Amigorena S, Piaggio E. Niborski LL, et al. Among authors: gueguen p. Nat Commun. 2023 May 30;14(1):3127. doi: 10.1038/s41467-023-38931-6. Nat Commun. 2023. PMID: 37253849 Free PMC article. No abstract available.
Description of Copy Number Variations in a Series of Children and Adolescents with FASD in Reunion Island.
Sennsfelder L, Guilly S, Leruste S, Hoareau L, Léocadie W, Beuvain P, Nekaa M, Bagard M, Robin S, Lanneaux J, Etchebarren L, Tallot M, Spodenkiewicz M, Alessandri JL, Morel G, Blanluet M, Gueguen P, Roy-Doray B. Sennsfelder L, et al. Among authors: gueguen p. Children (Basel). 2023 Apr 7;10(4):694. doi: 10.3390/children10040694. Children (Basel). 2023. PMID: 37189943 Free PMC article.
74 results