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Page 1
A snapshot of some pLI score pitfalls.
Ziegler A, Colin E, Goudenège D, Bonneau D. Ziegler A, et al. Among authors: colin e. Hum Mutat. 2019 Jul;40(7):839-841. doi: 10.1002/humu.23763. Epub 2019 Apr 29. Hum Mutat. 2019. PMID: 30977936
Binder phenotype in mothers affected with autoimmune disorders.
Colin E, Touraine R, Levaillant JM, Pasquier L, Boussion F, Ferry M, Guichet A, Barth M, Mercier A, Gérard-Blanluet M, Odent S, Bonneau D. Colin E, et al. J Matern Fetal Neonatal Med. 2012 Aug;25(8):1413-8. doi: 10.3109/14767058.2011.636105. Epub 2011 Dec 7. J Matern Fetal Neonatal Med. 2012. PMID: 22082304
SLC24A5 mutations are associated with non-syndromic oculocutaneous albinism.
Morice-Picard F, Lasseaux E, François S, Simon D, Rooryck C, Bieth E, Colin E, Bonneau D, Journel H, Walraedt S, Leroy BP, Meire F, Lacombe D, Arveiler B. Morice-Picard F, et al. Among authors: colin e. J Invest Dermatol. 2014 Feb;134(2):568-571. doi: 10.1038/jid.2013.360. Epub 2013 Aug 28. J Invest Dermatol. 2014. PMID: 23985994 Free article. No abstract available.
Fetal intracerebral hemorrhage and cataract: think COL4A1.
Colin E, Sentilhes L, Sarfati A, Mine M, Guichet A, Ploton C, Boussion F, Delorme B, Tournier-Lasserve E, Bonneau D. Colin E, et al. J Perinatol. 2014 Jan;34(1):75-7. doi: 10.1038/jp.2013.135. J Perinatol. 2014. PMID: 24374867
Early-onset Behr syndrome due to compound heterozygous mutations in OPA1.
Bonneau D, Colin E, Oca F, Ferré M, Chevrollier A, Guéguen N, Desquiret-Dumas V, N'Guyen S, Barth M, Zanlonghi X, Rio M, Desguerre I, Barnerias C, Momtchilova M, Rodriguez D, Slama A, Lenaers G, Procaccio V, Amati-Bonneau P, Reynier P. Bonneau D, et al. Among authors: colin e. Brain. 2014 Oct;137(Pt 10):e301. doi: 10.1093/brain/awu184. Epub 2014 Jul 10. Brain. 2014. PMID: 25012220 Free article. No abstract available.
Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.
Redin C, Gérard B, Lauer J, Herenger Y, Muller J, Quartier A, Masurel-Paulet A, Willems M, Lesca G, El-Chehadeh S, Le Gras S, Vicaire S, Philipps M, Dumas M, Geoffroy V, Feger C, Haumesser N, Alembik Y, Barth M, Bonneau D, Colin E, Dollfus H, Doray B, Delrue MA, Drouin-Garraud V, Flori E, Fradin M, Francannet C, Goldenberg A, Lumbroso S, Mathieu-Dramard M, Martin-Coignard D, Lacombe D, Morin G, Polge A, Sukno S, Thauvin-Robinet C, Thevenon J, Doco-Fenzy M, Genevieve D, Sarda P, Edery P, Isidor B, Jost B, Olivier-Faivre L, Mandel JL, Piton A. Redin C, et al. Among authors: colin e. J Med Genet. 2014 Nov;51(11):724-36. doi: 10.1136/jmedgenet-2014-102554. Epub 2014 Aug 28. J Med Genet. 2014. PMID: 25167861 Free PMC article.
Loss-of-function mutations in WDR73 are responsible for microcephaly and steroid-resistant nephrotic syndrome: Galloway-Mowat syndrome.
Colin E, Huynh Cong E, Mollet G, Guichet A, Gribouval O, Arrondel C, Boyer O, Daniel L, Gubler MC, Ekinci Z, Tsimaratos M, Chabrol B, Boddaert N, Verloes A, Chevrollier A, Gueguen N, Desquiret-Dumas V, Ferré M, Procaccio V, Richard L, Funalot B, Moncla A, Bonneau D, Antignac C. Colin E, et al. Am J Hum Genet. 2014 Dec 4;95(6):637-48. doi: 10.1016/j.ajhg.2014.10.011. Epub 2014 Nov 13. Am J Hum Genet. 2014. PMID: 25466283 Free PMC article.
169 results