Diagnostic odyssey in severe neurodevelopmental disorders: toward clinical whole‐exome sequencing as a first‐line diagnostic test
Thevenon, J., Duffourd, Y., Masurel‐Paulet, A., Lefebvre, M., Feillet, F., El Chehadeh‐Djebbar, S., St‐Onge, J., Steinmetz, A., Huet, F., Chouchane, M., Darmency‐Stamboul, V., Callier, P., Thauvin‐Robinet, C., Faivre, L., Rivière, J.B.
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Published in Clinical genetics (01.06.2016)
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Systematic resequencing of X-chromosome synaptic genes in autism spectrum disorder and schizophrenia
Piton, A, Gauthier, J, Hamdan, F F, Lafrenière, R G, Yang, Y, Henrion, E, Laurent, S, Noreau, A, Thibodeau, P, Karemera, L, Spiegelman, D, Kuku, F, Duguay, J, Destroismaisons, L, Jolivet, P, Côté, M, Lachapelle, K, Diallo, O, Raymond, A, Marineau, C, Champagne, N, Xiong, L, Gaspar, C, Rivière, J-B, Tarabeux, J, Cossette, P, Krebs, M-O, Rapoport, J L, Addington, A, DeLisi, L E, Mottron, L, Joober, R, Fombonne, E, Drapeau, P, Rouleau, G A
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Respiratory syncytial virus-associated mortality in a healthy 3-year-old child: a case report
Gavotto, A, Ousselin, A, Pidoux, O, Cathala, P, Costes-Martineau, V, Rivière, B, Pasquié, J L, Amedro, P, Rambaud, C, Cambonie, G
Published in BMC pediatrics (27.11.2019)
Published in BMC pediatrics (27.11.2019)
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Homozygous FIBP nonsense variant responsible of syndromic overgrowth, with overgrowth, macrocephaly, retinal coloboma and learning disabilities
Thauvin-Robinet, C., Duplomb-Jego, L., Limoge, F., Picot, D., Masurel, A., Terriat, B., Champilou, C., Minot, D., St-Onge, J., Kuentz, P., Duffourd, Y., Thevenon, J., Rivière, J.-B., Faivre, L.
Published in Clinical genetics (01.05.2016)
Published in Clinical genetics (01.05.2016)
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Clinical reappraisal of SHORT syndrome with PIK3R1 mutations: toward recommendation for molecular testing and management
Avila, M., Dyment, D.A., Sagen, J.V., St-Onge, J., Moog, U., Chung, B.H.Y., Mo, S., Mansour, S., Albanese, A., Garcia, S., Martin, D.O., Lopez, A.A., Claudi, T., König, R., White, S.M., Sawyer, S.L., Bernstein, J.A., Slattery, L., Jobling, R.K., Yoon, G., Curry, C.J., Merrer, M.L., Luyer, B.L., Héron, D., Mathieu-Dramard, M., Bitoun, P., Odent, S., Amiel, J., Kuentz, P., Thevenon, J., Laville, M., Reznik, Y., Fagour, C., Nunes, M.-L., Delesalle, D., Manouvrier, S., Lascols, O., Huet, F., Binquet, C., Faivre, L., Rivière, J.-B., Vigouroux, C., Njølstad, P.R., Innes, A.M., Thauvin-Robinet, C.
Published in Clinical genetics (01.04.2016)
Published in Clinical genetics (01.04.2016)
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Expanding the clinical spectrum of mosaic BRAF skin phenotypes
Sorlin, A., Carmignac, V., Amiel, J., Boccara, O., Fraitag, S., Maruani, A., Theiler, M., Weibel, L., Duffourd, Y., Philippe, C., Thauvin‐Robinet, C., Faivre, L., Rivière, J.‐B., Vabres, P., Kuentz, P.
Published in Journal of the European Academy of Dermatology and Venereology (01.10.2021)
Published in Journal of the European Academy of Dermatology and Venereology (01.10.2021)
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Autosomal recessive truncating MAB21L1 mutation associated with a syndromic scrotal agenesis
Bruel, A.‐L., Masurel‐Paulet, A., Rivière, J.‐B., Duffourd, Y., Lehalle, D., Bensignor, C., Huet, F., Borgnon, J., Roucher, F., Kuentz, P., Deleuze, J.‐F., Thauvin‐Robinet, C., Faivre, L., Thevenon, J.
Published in Clinical genetics (01.02.2017)
Published in Clinical genetics (01.02.2017)
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A novel autosomal dominant restless legs syndrome locus maps to chromosome 20p13
Levchenko, A, Provost, S, Montplaisir, J Y, Xiong, L, St-Onge, J, Thibodeau, P, Rivière, J B, Desautels, A, Turecki, G, Dubé, M P, Rouleau, G A
Published in Neurology (12.09.2006)
Published in Neurology (12.09.2006)
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Unexpected diagnosis of a SHH nonsense variant causing a variable phenotype ranging from familial coloboma and Intellectual disability to isolated microcephaly
Bruel, A.‐L., 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, J.‐B., Faivre, L., Thauvin‐Robinet, C.
Published in Clinical Genetics (01.07.2018)
Published in Clinical Genetics (01.07.2018)
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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, A.-L., St-Onge, J., Duffourd, Y., Pazour, G.J., Franco, B., Attie-Bitach, T., Masurel-Paulet, A., Rivière, J.-B., Cormier-Daire, V., Philippe, C., Faivre, L., Thauvin-Robinet, C.
Published in Clinical genetics (01.12.2016)
Published in Clinical genetics (01.12.2016)
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Tourette syndrome and dopaminergic genes: a family-based association study in the French Canadian founder population
DIAZ-ANZALDUA, A, JOOBER, R, RIVIERE, J.-B, DION, Y, LESPERANCE, P, RICHER, F, CHOUINARD, S, ROULEAU, G. A
Published in Molecular psychiatry (01.03.2004)
Published in Molecular psychiatry (01.03.2004)
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O029 : HCV triggers Wnt paracrine signalling that modulates metabolic liver zonation
Moreau, M, Rivière, B, Ramos, J, Assenat, E, Hibner, U
Published in Journal of hepatology (01.04.2015)
Published in Journal of hepatology (01.04.2015)
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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, A.L., 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, J.B., Thauvin‐Robinet, C., Beaudet, A.L., Faivre, L.
Published in Clinical genetics (01.08.2017)
Published in Clinical genetics (01.08.2017)
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Distal truncation of KCC3 in non-French Canadian HMSN/ACC families
Salin-Cantegrel, A, Rivière, J-B, Dupré, N, Charron, F M, Shekarabi, M, Karéméra, L, Gaspar, C, Horst, J, Tekin, M, Deda, G, Krause, A, Lippert, M M, Willemsen, M A A P, Jarrar, R, Lapointe, J-Y, Rouleau, G A
Published in Neurology (25.09.2007)
Published in Neurology (25.09.2007)
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A vertex scheme for two-phase flow in heterogeneous media
Joshaghani, M.S., Girault, V., Riviere, B.
Published in Journal of computational physics (15.01.2022)
Published in Journal of computational physics (15.01.2022)
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