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Year Number of Results
2016 3
2017 6
2018 5
2019 7
2020 7
2021 1
2022 2
2023 2
2024 0

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27 results

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Page 1
Further clinical and molecular characterization of an XLID syndrome associated with BRWD3 variants, a gene implicated in the leukemia-related JAK-STAT pathway.
Delanne J, Lecat M, Blackburn PR, Klee EW, Stumpel CTRM, Stegmann S, Stevens SJC, Nava C, Heron D, Keren B, Mahida S, Naidu S, Babovic-Vuksanovic D, Herkert JC, Torring PM, Kibæk M, De Bie I, Pfundt R, Hendriks YMC, Ousager LB, Bend R, Warren H, Skinner SA, Lyons MJ, Pöe C, Chevarin M, Jouan T, Garde A, Thomas Q, Kuentz P, Tisserant E, Duffourd Y, Philippe C, Faivre L, Thauvin-Robinet C. Delanne J, et al. Among authors: jouan t. Eur J Med Genet. 2023 Jan;66(1):104670. doi: 10.1016/j.ejmg.2022.104670. Epub 2022 Nov 19. Eur J Med Genet. 2023. PMID: 36414205 Review.
De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature.
Nambot S, Faivre L, Mirzaa G, Thevenon J, Bruel AL, Mosca-Boidron AL, Masurel-Paulet A, Goldenberg A, Le Meur N, Charollais A, Mignot C, Petit F, Rossi M, Metreau J, Layet V, Amram D, Boute-Bénéjean O, Bhoj E, Cousin MA, Kruisselbrink TM, Lanpher BC, Klee EW, Fiala E, Grange DK, Meschino WS, Hiatt SM, Cooper GM, Olivié H, Smith WE, Dumas M, Lehman A; CAUSES Study; Inglese C, Nizon M, Guerrini R, Vetro A, Kaplan ES, Miramar D, Van Gils J, Fergelot P, Bodamer O, Herkert JC, Pajusalu S, Õunap K, Filiano JJ, Smol T, Piton A, Gérard B, Chantot-Bastaraud S, Bienvenu T, Li D, Juusola J, Devriendt K, Bilan F, Poé C, Chevarin M, Jouan T, Tisserant E, Rivière JB, Tran Mau-Them F, Philippe C, Duffourd Y, Dobyns WB, Hevner R, Thauvin-Robinet C. Nambot S, et al. Among authors: jouan t. Eur J Hum Genet. 2020 Jun;28(6):770-782. doi: 10.1038/s41431-020-0571-6. Epub 2020 Jan 31. Eur J Hum Genet. 2020. PMID: 32005960 Free PMC article. Review.
Lysosomal Signaling Licenses Embryonic Stem Cell Differentiation via Inactivation of Tfe3.
Villegas F, Lehalle D, Mayer D, Rittirsch M, Stadler MB, Zinner M, Olivieri D, Vabres P, Duplomb-Jego L, De Bont ESJM, Duffourd Y, Duijkers F, Avila M, Geneviève D, Houcinat N, Jouan T, Kuentz P, Lichtenbelt KD, Thauvin-Robinet C, St-Onge J, Thevenon J, van Gassen KLI, van Haelst M, van Koningsbruggen S, Hess D, Smallwood SA, Rivière JB, Faivre L, Betschinger J. Villegas F, et al. Among authors: jouan t. Cell Stem Cell. 2019 Feb 7;24(2):257-270.e8. doi: 10.1016/j.stem.2018.11.021. Epub 2018 Dec 27. Cell Stem Cell. 2019. PMID: 30595499 Free article.
Accelerated genome sequencing with controlled costs for infants in intensive care units: a feasibility study in a French hospital network.
Denommé-Pichon AS, Vitobello A, Olaso R, Ziegler A, Jeanne M, Tran Mau-Them F, Couturier V, Racine C, Isidor B, Poë C, Jouan T, Boland A, Fin B, Bacq-Daian D, Besse C, Garde A, Prost A, Garret P, Tisserant É, Delanne J, Nambot S, Juven A, Gorce M, Nizon M, Vincent M, Moutton S, Fradin M, Lavillaureix A, Rollier P, Capri Y, Van-Gils J, Busa T, Sigaudy S, Pasquier L, Barth M, Bruel AL, Flamant C, Prouteau C, Bonneau D, Toutain A, Chantegret C, Callier P, Philippe C, Duffourd Y, Deleuze JF, Sorlin A, Faivre L, Thauvin-Robinet C. Denommé-Pichon AS, et al. Among authors: jouan t. Eur J Hum Genet. 2022 May;30(5):567-576. doi: 10.1038/s41431-021-00998-4. Epub 2021 Nov 15. Eur J Hum Genet. 2022. PMID: 34782754 Free PMC article.
Cost of exome analysis in patients with intellectual disability: a micro-costing study in a French setting.
Soilly AL, Robert-Viard C, Besse C, Bruel AL, Gerard B, Boland A, Piton A, Duffourd Y, Muller J, Poë C, Jouan T, El Doueiri S, Faivre L, Bacq-Daian D, Isidor B, Genevieve D, Odent S, Philip N, Doco-Fenzy M, Lacombe D, Asensio ML, Deleuze JF, Binquet C; DISSEQ Investigators Group; Thauvin-Robinet C, Lejeune C. Soilly AL, et al. Among authors: jouan t. BMC Health Serv Res. 2023 Apr 21;23(1):386. doi: 10.1186/s12913-023-09373-z. BMC Health Serv Res. 2023. PMID: 37085862 Free PMC article.
De novo truncating variants in the intronless IRF2BPL are responsible for developmental epileptic encephalopathy.
Tran Mau-Them F, Guibaud L, Duplomb L, Keren B, Lindstrom K, Marey I, Mochel F, van den Boogaard MJ, Oegema R, Nava C, Masurel A, Jouan T, Jansen FE, Au M, Chen AH, Cho M, Duffourd Y, Lozier E, Konovalov F, Sharkov A, Korostelev S, Urteaga B, Dickson P, Vera M, Martínez-Agosto JA, Begemann A, Zweier M, Schmitt-Mechelke T, Rauch A, Philippe C, van Gassen K, Nelson S, Graham JM Jr, Friedman J, Faivre L, Lin HJ, Thauvin-Robinet C, Vitobello A. Tran Mau-Them F, et al. Among authors: jouan t. Genet Med. 2019 Apr;21(4):1008-1014. doi: 10.1038/s41436-018-0143-0. Epub 2018 Aug 31. Genet Med. 2019. PMID: 30166628 Free article.
Increased diagnostic and new genes identification outcome using research reanalysis of singleton exome sequencing.
Bruel AL, Nambot S, Quéré V, Vitobello A, Thevenon J, Assoum M, Moutton S, Houcinat N, Lehalle D, Jean-Marçais N; Orphanomix Physician’s Group; Chevarin M, Jouan T, Poë C, Callier P, Tisserand E, Philippe C, Them FTM, Duffourd Y, Faivre L, Thauvin-Robinet C. Bruel AL, et al. Among authors: jouan t. Eur J Hum Genet. 2019 Oct;27(10):1519-1531. doi: 10.1038/s41431-019-0442-1. Epub 2019 Jun 23. Eur J Hum Genet. 2019. PMID: 31231135 Free PMC article.
Mosaicism for a KITLG Mutation in Linear and Whorled Nevoid Hypermelanosis.
Sorlin A, Maruani A, Aubriot-Lorton MH, Kuentz P, Duffourd Y, Teysseire S, Carmignac V, St-Onge J, Chevarin M, Jouan T, Thauvin-Robinet C, Thevenon J, Faivre L, Rivière JB, Vabres P. Sorlin A, et al. Among authors: jouan t. J Invest Dermatol. 2017 Jul;137(7):1575-1578. doi: 10.1016/j.jid.2017.01.035. Epub 2017 Feb 28. J Invest Dermatol. 2017. PMID: 28257793 Free article. No abstract available.
Reducing diagnostic turnaround times of exome sequencing for families requiring timely diagnoses.
Bourchany A, Thauvin-Robinet C, Lehalle D, Bruel AL, Masurel-Paulet A, Jean N, Nambot S, Willems M, Lambert L, El Chehadeh-Djebbar S, Schaefer E, Jaquette A, St-Onge J, Poe C, Jouan T, Chevarin M, Callier P, Mosca-Boidron AL, Laurent N, Lefebvre M, Huet F, Houcinat N, Moutton S, Philippe C, Tran-Mau-Them F, Vitobello A, Kuentz P, Duffourd Y, Rivière JB, Thevenon J, Faivre L. Bourchany A, et al. Among authors: jouan t. Eur J Med Genet. 2017 Nov;60(11):595-604. doi: 10.1016/j.ejmg.2017.08.011. Epub 2017 Aug 12. Eur J Med Genet. 2017. PMID: 28807864
27 results