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INTU-related oral-facial-digital syndrome type VI: A confirmatory report.
Bruel AL, Levy J, Elenga N, Defo A, Favre A, Lucron H, Capri Y, Perrin L, Passemard S, Vial Y, Tabet AC, Faivre L, Thauvin-Robinet C, Verloes A. Bruel AL, et al. Clin Genet. 2018 Jun;93(6):1205-1209. doi: 10.1111/cge.13238. Epub 2018 Apr 6. Clin Genet. 2018. PMID: 29451301
Autosomal recessive IFT57 hypomorphic mutation cause ciliary transport defect in unclassified oral-facial-digital syndrome with short stature and brachymesophalangia.
Thevenon J, Duplomb L, Phadke S, Eguether T, Saunier A, Avila M, Carmignac V, Bruel AL, St-Onge J, Duffourd Y, Pazour GJ, Franco B, Attie-Bitach T, Masurel-Paulet A, Rivière JB, Cormier-Daire V, Philippe C, Faivre L, Thauvin-Robinet C. Thevenon J, et al. Among authors: bruel al. Clin Genet. 2016 Dec;90(6):509-517. doi: 10.1111/cge.12785. Epub 2016 Apr 29. Clin Genet. 2016. PMID: 27060890 Free PMC article.
Further delineation of a rare recessive encephalomyopathy linked to mutations in GFER thanks to data sharing of whole exome sequencing data.
Nambot S, Gavrilov D, Thevenon J, Bruel AL, Bainbridge M, Rio M, Goizet C, Rötig A, Jaeken J, Niu N, Xia F, Vital A, Houcinat N, Mochel F, Kuentz P, Lehalle D, Duffourd Y, Rivière JB, Thauvin-Robinet C, Beaudet AL, Faivre L. Nambot S, et al. Among authors: bruel al. Clin Genet. 2017 Aug;92(2):188-198. doi: 10.1111/cge.12985. Epub 2017 Mar 1. Clin Genet. 2017. PMID: 28155230
Unexpected diagnosis of a SHH nonsense variant causing a variable phenotype ranging from familial coloboma and Intellectual disability to isolated microcephaly.
Bruel AL, Thevenon J, Huet F, Jean-Marcais N, Odent S, Dubourg C, Lehalle D, Tran Mau-Them F, Philippe C, Moutton S, Houcinat N, Gay S, Guibaud L, Duffourd Y, Rivière JB, Faivre L, Thauvin-Robinet C. Bruel AL, et al. Clin Genet. 2018 Jul;94(1):182-184. doi: 10.1111/cge.13211. Epub 2018 Mar 2. Clin Genet. 2018. PMID: 29498412 No abstract available.
Truncating variants of the DLG4 gene are responsible for intellectual disability with marfanoid features.
Moutton S, Bruel AL, Assoum M, Chevarin M, Sarrazin E, Goizet C, Guerrot AM, Charollais A, Charles P, Heron D, Faudet A, Houcinat N, Vitobello A, Tran-Mau-Them F, Philippe C, Duffourd Y, Thauvin-Robinet C, Faivre L. Moutton S, et al. Among authors: bruel al. Clin Genet. 2018 Jun;93(6):1172-1178. doi: 10.1111/cge.13243. Epub 2018 Apr 14. Clin Genet. 2018. PMID: 29460436
Secondary findings from whole-exome/genome sequencing evaluating stakeholder perspectives. A review of the literature.
Delanne J, Nambot S, Chassagne A, Putois O, Pelissier A, Peyron C, Gautier E, Thevenon J, Cretin E, Bruel AL, Goussot V, Ghiringhelli F, Boidot R, Tran Mau-Them F, Philippe C, Vitobello A, Demougeot L, Vernin C, Lapointe AS, Bardou M, Luu M, Binquet C, Lejeune C, Joly L, Juif C, Baurand A, Sawka C, Bertolone G, Duffourd Y, Sanlaville D, Pujol P, Geneviève D, Houdayer F, Thauvin-Robinet C, Faivre L. Delanne J, et al. Among authors: bruel al. Eur J Med Genet. 2019 Jun;62(6):103529. doi: 10.1016/j.ejmg.2018.08.010. Epub 2018 Aug 28. Eur J Med Genet. 2019. PMID: 30165243 Review.
Okur-Chung neurodevelopmental syndrome: Eight additional cases with implications on phenotype and genotype expansion.
Chiu ATG, Pei SLC, Mak CCY, Leung GKC, Yu MHC, Lee SL, Vreeburg M, Pfundt R, van der Burgt I, Kleefstra T, Frederic TM, Nambot S, Faivre L, Bruel AL, Rossi M, Isidor B, Küry S, Cogne B, Besnard T, Willems M, Reijnders MRF, Chung BHY. Chiu ATG, et al. Among authors: bruel al. Clin Genet. 2018 Apr;93(4):880-890. doi: 10.1111/cge.13196. Epub 2018 Feb 13. Clin Genet. 2018. PMID: 29240241
146 results