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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.
1.5 Mb microdeletion in 15q24 in a patient with mild OAVS phenotype.
Brun A, Cailley D, Toutain J, Bouron J, Arveiler B, Lacombe D, Goizet C, Rooryck C. Brun A, et al. Among authors: bouron j. Eur J Med Genet. 2012 Feb;55(2):135-9. doi: 10.1016/j.ejmg.2011.11.006. Epub 2011 Dec 3. Eur J Med Genet. 2012. PMID: 22198201
Prenatal diagnosis using array-CGH: a French experience.
Rooryck C, Toutain J, Cailley D, Bouron J, Horovitz J, Lacombe D, Arveiler B, Saura R. Rooryck C, et al. Among authors: bouron j. Eur J Med Genet. 2013 Jul;56(7):341-5. doi: 10.1016/j.ejmg.2013.02.003. Epub 2013 Feb 20. Eur J Med Genet. 2013. PMID: 23454632 Clinical Trial.
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
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.
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
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