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Page 1
Characterization of Vps13b-mutant mice reveals neuroanatomical and behavioral phenotypes with females less affected.
Montillot C, Skutunova E, Ayushma, Dubied M, Lahmar A, Nguyen S, Peerally B, Prin F, Duffourd Y, Thauvin-Robinet C, Duplomb L, Wang H, Ansar M, Faivre L, Navarro N, Minocha S, Collins SC, Yalcin B. Montillot C, et al. Among authors: duffourd y. Neurobiol Dis. 2023 Sep;185:106259. doi: 10.1016/j.nbd.2023.106259. Epub 2023 Aug 12. Neurobiol Dis. 2023. PMID: 37573958 Free article.
Mosaic Activating Mutations in GNA11 and GNAQ Are Associated with Phakomatosis Pigmentovascularis and Extensive Dermal Melanocytosis.
Thomas AC, Zeng Z, Rivière JB, O'Shaughnessy R, Al-Olabi L, St-Onge J, Atherton DJ, Aubert H, Bagazgoitia L, Barbarot S, Bourrat E, Chiaverini C, Chong WK, Duffourd Y, Glover M, Groesser L, Hadj-Rabia S, Hamm H, Happle R, Mushtaq I, Lacour JP, Waelchli R, Wobser M, Vabres P, Patton EE, Kinsler VA. Thomas AC, et al. Among authors: duffourd y. J Invest Dermatol. 2016 Apr;136(4):770-778. doi: 10.1016/j.jid.2015.11.027. Epub 2016 Jan 14. J Invest Dermatol. 2016. PMID: 26778290 Free PMC article.
BCOR and BCORL1 mutations in myelodysplastic syndromes and related disorders.
Damm F, Chesnais V, Nagata Y, Yoshida K, Scourzic L, Okuno Y, Itzykson R, Sanada M, Shiraishi Y, Gelsi-Boyer V, Renneville A, Miyano S, Mori H, Shih LY, Park S, Dreyfus F, Guerci-Bresler A, Solary E, Rose C, Cheze S, Prébet T, Vey N, Legentil M, Duffourd Y, de Botton S, Preudhomme C, Birnbaum D, Bernard OA, Ogawa S, Fontenay M, Kosmider O. Damm F, et al. Among authors: duffourd y. Blood. 2013 Oct 31;122(18):3169-77. doi: 10.1182/blood-2012-11-469619. Epub 2013 Sep 18. Blood. 2013. PMID: 24047651 Free article.
Solving patients with rare diseases through programmatic reanalysis of genome-phenome data.
Matalonga L, Hernández-Ferrer C, Piscia D; Solve-RD SNV-indel working group; Schüle R, Synofzik M, Töpf A, Vissers LELM, de Voer R; Solve-RD DITF-GENTURIS; Solve-RD DITF-ITHACA; Solve-RD DITF-euroNMD; Solve-RD DITF-RND; Tonda R, Laurie S, Fernandez-Callejo M, Picó D, Garcia-Linares C, Papakonstantinou A, Corvó A, Joshi R, Diez H, Gut I, Hoischen A, Graessner H, Beltran S; Solve-RD Consortia. Matalonga L, et al. Eur J Hum Genet. 2021 Sep;29(9):1337-1347. doi: 10.1038/s41431-021-00852-7. Epub 2021 Jun 1. Eur J Hum Genet. 2021. PMID: 34075210 Free PMC article.
Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder.
Krupp DR, Barnard RA, Duffourd Y, Evans SA, Mulqueen RM, Bernier R, Rivière JB, Fombonne E, O'Roak BJ. Krupp DR, et al. Among authors: duffourd y. Am J Hum Genet. 2017 Sep 7;101(3):369-390. doi: 10.1016/j.ajhg.2017.07.016. Epub 2017 Aug 31. Am J Hum Genet. 2017. PMID: 28867142 Free PMC article.
STAT3 mutations identified in human hematologic neoplasms induce myeloid malignancies in a mouse bone marrow transplantation model.
Couronné L, Scourzic L, Pilati C, Della Valle V, Duffourd Y, Solary E, Vainchenker W, Merlio JP, Beylot-Barry M, Damm F, Stern MH, Gaulard P, Lamant L, Delabesse E, Merle-Beral H, Nguyen-Khac F, Fontenay M, Tilly H, Bastard C, Zucman-Rossi J, Bernard OA, Mercher T. Couronné L, et al. Among authors: duffourd y. Haematologica. 2013 Nov;98(11):1748-52. doi: 10.3324/haematol.2013.085068. Epub 2013 Jul 19. Haematologica. 2013. PMID: 23872306 Free PMC article.
Solving unsolved rare neurological diseases-a Solve-RD viewpoint.
Schüle R, Timmann D, Erasmus CE, Reichbauer J, Wayand M; Solve-RD-DITF-RND; van de Warrenburg B, Schöls L, Wilke C, Bevot A, Zuchner S, Beltran S, Laurie S, Matalonga L, Graessner H, Synofzik M; Solve-RD Consortium. Schüle R, et al. Eur J Hum Genet. 2021 Sep;29(9):1332-1336. doi: 10.1038/s41431-021-00901-1. Epub 2021 May 10. Eur J Hum Genet. 2021. PMID: 33972714 Free PMC article. No abstract available.
Recommendations for accurate genotyping of SARS-CoV-2 using amplicon-based sequencing of clinical samples.
Kubik S, Marques AC, Xing X, Silvery J, Bertelli C, De Maio F, Pournaras S, Burr T, Duffourd Y, Siemens H, Alloui C, Song L, Wenger Y, Saitta A, Macheret M, Smith EW, Menu P, Brayer M, Steinmetz LM, Si-Mohammed A, Chuisseu J, Stevens R, Constantoulakis P, Sali M, Greub G, Tiemann C, Pelechano V, Willig A, Xu Z. Kubik S, et al. Among authors: duffourd y. Clin Microbiol Infect. 2021 Jul;27(7):1036.e1-1036.e8. doi: 10.1016/j.cmi.2021.03.029. Epub 2021 Apr 2. Clin Microbiol Infect. 2021. PMID: 33813118 Free PMC article.
Mutations in SLC13A5 cause autosomal-recessive epileptic encephalopathy with seizure onset in the first days of life.
Thevenon J, Milh M, Feillet F, St-Onge J, Duffourd Y, Jugé C, Roubertie A, Héron D, Mignot C, Raffo E, Isidor B, Wahlen S, Sanlaville D, Villeneuve N, Darmency-Stamboul V, Toutain A, Lefebvre M, Chouchane M, Huet F, Lafon A, de Saint Martin A, Lesca G, El Chehadeh S, Thauvin-Robinet C, Masurel-Paulet A, Odent S, Villard L, Philippe C, Faivre L, Rivière JB. Thevenon J, et al. Among authors: duffourd y. Am J Hum Genet. 2014 Jul 3;95(1):113-20. doi: 10.1016/j.ajhg.2014.06.006. Am J Hum Genet. 2014. PMID: 24995870 Free PMC article.
Autosomal-recessive SASH1 variants associated with a new genodermatosis with pigmentation defects, palmoplantar keratoderma and skin carcinoma.
Courcet JB, Elalaoui SC, Duplomb L, Tajir M, Rivière JB, Thevenon J, Gigot N, Marle N, Aral B, Duffourd Y, Sarasin A, Naim V, Courcet-Degrolard E, Aubriot-Lorton MH, Martin L, Abrid JE, Thauvin C, Sefiani A, Vabres P, Faivre L. Courcet JB, et al. Among authors: duffourd y. Eur J Hum Genet. 2015 Jul;23(7):957-62. doi: 10.1038/ejhg.2014.213. Epub 2014 Oct 15. Eur J Hum Genet. 2015. PMID: 25315659 Free PMC article.
150 results