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Page 1
Cell cycle arrest and p53 prevent ON-target megabase-scale rearrangements induced by CRISPR-Cas9.
Cullot G, Boutin J, Fayet S, Prat F, Rosier J, Cappellen D, Lamrissi I, Pennamen P, Bouron J, Amintas S, Thibault C, Moranvillier I, Laharanne E, Merlio JP, Guyonnet-Duperat V, Blouin JM, Richard E, Dabernat S, Moreau-Gaudry F, Bedel A. Cullot G, et al. Among authors: bouron j. Nat Commun. 2023 Jul 10;14(1):4072. doi: 10.1038/s41467-023-39632-w. Nat Commun. 2023. PMID: 37429857 Free PMC article.
CRISPR-Cas9 globin editing can induce megabase-scale copy-neutral losses of heterozygosity in hematopoietic cells.
Boutin J, Rosier J, Cappellen D, Prat F, Toutain J, Pennamen P, Bouron J, Rooryck C, Merlio JP, Lamrissi-Garcia I, Cullot G, Amintas S, Guyonnet-Duperat V, Ged C, Blouin JM, Richard E, Dabernat S, Moreau-Gaudry F, Bedel A. Boutin J, et al. Among authors: bouron j. Nat Commun. 2021 Aug 13;12(1):4922. doi: 10.1038/s41467-021-25190-6. Nat Commun. 2021. PMID: 34389729 Free PMC article.
First female prenatal case of osteopathia striata with cranial sclerosis in a fetus carrying a de-novo 1.9 Mbp interstitial deletion at Xq11.1q11.2.
Vuillaume ML, Valard AG, Houcinat N, Bouron J, Boucher C, Deves S, Toutain J, Schaub B, Adenet C, Lacombe D, Gueneret M, Rooryck C. Vuillaume ML, et al. Among authors: bouron j. Clin Dysmorphol. 2017 Oct;26(4):231-234. doi: 10.1097/MCD.0000000000000192. Clin Dysmorphol. 2017. PMID: 28799946 No abstract available.
Otopalatodigital spectrum disorders: refinement of the phenotypic and mutational spectrum.
Moutton S, Fergelot P, Naudion S, Cordier MP, Solé G, Guerineau E, Hubert C, Rooryck C, Vuillaume ML, Houcinat N, Deforges J, Bouron J, Devès S, Le Merrer M, David A, Geneviève D, Giuliano F, Journel H, Megarbane A, Faivre L, Chassaing N, Francannet C, Sarrazin E, Stattin EL, Vigneron J, Leclair D, Abadie C, Sarda P, Baumann C, Delrue MA, Arveiler B, Lacombe D, Goizet C, Coupry I. Moutton S, et al. Among authors: bouron j. J Hum Genet. 2016 Aug;61(8):693-9. doi: 10.1038/jhg.2016.37. Epub 2016 May 19. J Hum Genet. 2016. PMID: 27193221
New practical definitions for the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay.
Pilliod J, Moutton S, Lavie J, Maurat E, Hubert C, Bellance N, Anheim M, Forlani S, Mochel F, N'Guyen K, Thauvin-Robinet C, Verny C, Milea D, Lesca G, Koenig M, Rodriguez D, Houcinat N, Van-Gils J, Durand CM, Guichet A, Barth M, Bonneau D, Convers P, Maillart E, Guyant-Marechal L, Hannequin D, Fromager G, Afenjar A, Chantot-Bastaraud S, Valence S, Charles P, Berquin P, Rooryck C, Bouron J, Brice A, Lacombe D, Rossignol R, Stevanin G, Benard G, Burglen L, Durr A, Goizet C, Coupry I. Pilliod J, et al. Among authors: bouron j. Ann Neurol. 2015 Dec;78(6):871-86. doi: 10.1002/ana.24509. Epub 2015 Nov 14. Ann Neurol. 2015. PMID: 26288984
Albinism in a patient with mutations at both the OA1 and OCA3 loci.
Morice-Picard F, Lasseaux E, Plaisant C, Cailley D, Bouron J, Rooryck C, Lacombe D, Pelletier V, Lipsker D, Perdomo-Trujillo Y, Dollfus H, Arveiler B. Morice-Picard F, et al. Among authors: bouron j. Pigment Cell Melanoma Res. 2016 Jan;29(1):107-9. doi: 10.1111/pcmr.12408. Epub 2015 Oct 24. Pigment Cell Melanoma Res. 2016. PMID: 26247803 No abstract available.
SCA27 is a cause of early-onset ataxia and developmental delay.
Planes M, Rooryck C, Vuillaume ML, Besnard L, Bouron J, Lacombe D, Arveiler B, Goizet C. Planes M, et al. Among authors: bouron j. Eur J Paediatr Neurol. 2015 Mar;19(2):271-3. doi: 10.1016/j.ejpn.2014.11.013. Epub 2014 Dec 5. Eur J Paediatr Neurol. 2015. PMID: 25530029 No abstract available.
New candidate loci identified by array-CGH in a cohort of 100 children presenting with syndromic obesity.
Vuillaume ML, Naudion S, Banneau G, Diene G, Cartault A, Cailley D, Bouron J, Toutain J, Bourrouillou G, Vigouroux A, Bouneau L, Nacka F, Kieffer I, Arveiler B, Knoll-Gellida A, Babin PJ, Bieth E, Jouret B, Julia S, Sarda P, Geneviève D, Faivre L, Lacombe D, Barat P, Tauber M, Delrue MA, Rooryck C. Vuillaume ML, et al. Among authors: bouron j. Am J Med Genet A. 2014 Aug;164A(8):1965-75. doi: 10.1002/ajmg.a.36587. Epub 2014 Apr 29. Am J Med Genet A. 2014. PMID: 24782328
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