Publications

  • Burgevin M, Lacroix A, Ollivier F, Bourdet K, Coutant R, Donadille B, Faivre L, Manouvrier-Hanu S, Petit F, Thauvin-Robinet C, Toutain A, Netchine I, Odent S. Executive functioning in adolescents and adults with Silver-Russell syndrome. PLoS One. 2023 Jan 20;18(1):e0279745. doi: 10.1371/journal.pone.0279745. PMID: 36662731; PMCID: PMC9858375.
  • Riquin K, Isidor B, Mercier S, Nizon M, Colin E, Bonneau D, Pasquier L, Odent S, Le Guillou Horn XM, Le Guyader G, Toutain A, Meyer V, Deleuze JF, Pichon O, Doco-Fenzy M, Bézieau S, Cogné B. Integrating RNA-Seq into genome sequencing workflow enhances the analysis of structural variants causing neurodevelopmental disorders. J Med Genet. 2023 Jul 26:jmg-2023-109263. doi: 10.1136/jmg-2023-109263. Epub ahead of print. PMID: 37495270.
  • Pasquier L, Reyneke M, Beeckman L, Siermann M, Van Steijvoort E, Borry P. Attitudes of professional stakeholders towards implementation of reproductive genetic carrier screening: a systematic review. Eur J Hum Genet. 2023 Apr;31(4):395-408. doi: 10.1038/s41431-022-01274-9. Epub 2023 Jan 12. PMID: 36631542; PMCID: PMC10133284.
  • Ebstein F, Küry S, Most V, Rosenfelt C, Scott-Boyer MP, van Woerden GM, Besnard T, Papendorf JJ, Studencka-Turski M, Wang T, Hsieh TC, Golnik R, Baldridge D, Forster C, de Konink C, Teurlings SMW, Vignard V, van Jaarsveld RH, Ades L, Cogné B, Mignot C, Deb W, Jongmans MCJ, Cole FS, van den Boogaard MH, Wambach JA, Wegner DJ, Yang S, Hannig V, Brault JA, Zadeh N, Bennetts B, Keren B, Gélineau AC, Powis Z, Towne M, Bachman K, Seeley A, Beck AE, Morrison J, Westman R, Averill K, Brunet T, Haasters J, Carter MT, Osmond M, Wheeler PG, Forzano F, Mohammed S, Trakadis Y, Accogli A, Harrison R, Guo Y, Hakonarson H, Rondeau S, Baujat G, Barcia G, Feichtinger RG, Mayr JA, Preisel M, Laumonnier F, Kallinich T, Knaus A, Isidor B, Krawitz P, Völker U, Hammer E, Droit A, Eichler EE, Elgersma Y, Hildebrand PW, Bolduc F, Krüger E, Bézieau S. PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production. Sci Transl Med. 2023 May 31;15(698):eabo3189. doi: 10.1126/scitranslmed.abo3189. Epub 2023 May 31. PMID: 37256937.
  • Couloigner L, Planes M, Ka C, Audebert-Bellanger S, Redon S, Benech C, Rouault K, Küry S, Peudenier S, Autret S, Gourlaouen I, Bonneau D, Odent S, Bézieau S, Gilbert-Dussardier B, Toutain A, Boland A, Deleuze JF, Le Marechal C, Le Gac G, Ferec C, Uguen K. A new case of Kaufman Oculocerebrofacial syndrome caused by two splicing variants in UBE3B and review of the literature. Clin Genet. 2023 Mar;103(3):377-379. doi: 10.1111/cge.14270. Epub 2022 Dec 1. PMID: 36444497.
  • Leclerc D, Goujon L, Jaillard S, Nouyou B, Cluzeau L, Damaj L, Dubourg C, Etcheverry A, Levade T, Froissart R, Dréano S, Guillory X, Eriksson LA, Launay E, Mouriaux F, Belaud-Rotureau MA, Odent S, Gilot D. Gene Editing Corrects In Vitro a G > A GLB1 Transition from a GM1 Gangliosidosis Patient. CRISPR J. 2023 Feb;6(1):17-31. doi: 10.1089/crispr.2022.0045. Epub 2023 Jan 11. PMID: 36629845; PMCID: PMC9986017.