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Page 1
DNA sequencing - spanning the generations.
McGinn S, Gut IG. McGinn S, et al. N Biotechnol. 2013 May 25;30(4):366-72. doi: 10.1016/j.nbt.2012.11.012. Epub 2012 Nov 16. N Biotechnol. 2013. PMID: 23165096 Review.
New technologies for DNA analysis--a review of the READNA Project.
McGinn S, Bauer D, Brefort T, Dong L, El-Sagheer A, Elsharawy A, Evans G, Falk-Sörqvist E, Forster M, Fredriksson S, Freeman P, Freitag C, Fritzsche J, Gibson S, Gullberg M, Gut M, Heath S, Heath-Brun I, Heron AJ, Hohlbein J, Ke R, Lancaster O, Le Reste L, Maglia G, Marie R, Mauger F, Mertes F, Mignardi M, Moens L, Oostmeijer J, Out R, Pedersen JN, Persson F, Picaud V, Rotem D, Schracke N, Sengenes J, Stähler PF, Stade B, Stoddart D, Teng X, Veal CD, Zahra N, Bayley H, Beier M, Brown T, Dekker C, Ekström B, Flyvbjerg H, Franke A, Guenther S, Kapanidis AN, Kaye J, Kristensen A, Lehrach H, Mangion J, Sauer S, Schyns E, Tost J, van Helvoort JM, van der Zaag PJ, Tegenfeldt JO, Brookes AJ, Mir K, Nilsson M, Willcocks JP, Gut IG. McGinn S, et al. N Biotechnol. 2016 May 25;33(3):311-30. doi: 10.1016/j.nbt.2015.10.003. Epub 2015 Oct 26. N Biotechnol. 2016. PMID: 26514324 Review.
Genome-wide association analysis in dilated cardiomyopathy reveals two new players in systolic heart failure on chromosomes 3p25.1 and 22q11.23.
Garnier S, Harakalova M, Weiss S, Mokry M, Regitz-Zagrosek V, Hengstenberg C, Cappola TP, Isnard R, Arbustini E, Cook SA, van Setten J, Calis JJA, Hakonarson H, Morley MP, Stark K, Prasad SK, Li J, O'Regan DP, Grasso M, Müller-Nurasyid M, Meitinger T, Empana JP, Strauch K, Waldenberger M, Marguiles KB, Seidman CE, Kararigas G, Meder B, Haas J, Boutouyrie P, Lacolley P, Jouven X, Erdmann J, Blankenberg S, Wichter T, Ruppert V, Tavazzi L, Dubourg O, Roizes G, Dorent R, de Groote P, Fauchier L, Trochu JN, Aupetit JF, Bilinska ZT, Germain M, Völker U, Hemerich D, Raji I, Bacq-Daian D, Proust C, Remior P, Gomez-Bueno M, Lehnert K, Maas R, Olaso R, Saripella GV, Felix SB, McGinn S, Duboscq-Bidot L, van Mil A, Besse C, Fontaine V, Blanché H, Ader F, Keating B, Curjol A, Boland A, Komajda M, Cambien F, Deleuze JF, Dörr M, Asselbergs FW, Villard E, Trégouët DA, Charron P. Garnier S, et al. Among authors: mcginn s. Eur Heart J. 2021 May 21;42(20):2000-2011. doi: 10.1093/eurheartj/ehab030. Eur Heart J. 2021. PMID: 33677556 Free PMC article.
Whole-genome sequencing in patients with ciliopathies uncovers a novel recurrent tandem duplication in IFT140.
Geoffroy V, Stoetzel C, Scheidecker S, Schaefer E, Perrault I, Bär S, Kröll A, Delbarre M, Antin M, Leuvrey AS, Henry C, Blanché H, Decker E, Kloth K, Klaus G, Mache C, Martin-Coignard D, McGinn S, Boland A, Deleuze JF, Friant S, Saunier S, Rozet JM, Bergmann C, Dollfus H, Muller J. Geoffroy V, et al. Among authors: mcginn s. Hum Mutat. 2018 Jul;39(7):983-992. doi: 10.1002/humu.23539. Epub 2018 May 8. Hum Mutat. 2018. PMID: 29688594 Free article.
Proteasome subunit PSMC3 variants cause neurosensory syndrome combining deafness and cataract due to proteotoxic stress.
Kröll-Hermi A, Ebstein F, Stoetzel C, Geoffroy V, Schaefer E, Scheidecker S, Bär S, Takamiya M, Kawakami K, Zieba BA, Studer F, Pelletier V, Eyermann C, Speeg-Schatz C, Laugel V, Lipsker D, Sandron F, McGinn S, Boland A, Deleuze JF, Kuhn L, Chicher J, Hammann P, Friant S, Etard C, Krüger E, Muller J, Strähle U, Dollfus H. Kröll-Hermi A, et al. Among authors: mcginn s. EMBO Mol Med. 2020 Jul 7;12(7):e11861. doi: 10.15252/emmm.201911861. Epub 2020 Jun 5. EMBO Mol Med. 2020. PMID: 32500975 Free PMC article.
G/T substitution in intron 1 of the UNC13B gene is associated with increased risk of nephropathy in patients with type 1 diabetes.
Trégouet DA, Groop PH, McGinn S, Forsblom C, Hadjadj S, Marre M, Parving HH, Tarnow L, Telgmann R, Godefroy T, Nicaud V, Rousseau R, Parkkonen M, Hoverfält A, Gut I, Heath S, Matsuda F, Cox R, Kazeem G, Farrall M, Gauguier D, Brand-Herrmann SM, Cambien F, Lathrop M, Vionnet N; EURAGEDIC Consortium. Trégouet DA, et al. Among authors: mcginn s. Diabetes. 2008 Oct;57(10):2843-50. doi: 10.2337/db08-0073. Epub 2008 Jul 15. Diabetes. 2008. PMID: 18633107 Free PMC article.