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Page 1
APRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients.
Guéant JL, Chéry C, Oussalah A, Nadaf J, Coelho D, Josse T, Flayac J, Robert A, Koscinski I, Gastin I, Filhine-Tresarrieu P, Pupavac M, Brebner A, Watkins D, Pastinen T, Montpetit A, Hariri F, Tregouët D, Raby BA, Chung WK, Morange PE, Froese DS, Baumgartner MR, Benoist JF, Ficicioglu C, Marchand V, Motorin Y, Bonnemains C, Feillet F, Majewski J, Rosenblatt DS. Guéant JL, et al. Among authors: montpetit a. Nat Commun. 2018 Jan 4;9(1):67. doi: 10.1038/s41467-017-02306-5. Nat Commun. 2018. PMID: 29302025 Free PMC article.
Publisher Correction: A PRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients.
Guéant JL, Chéry C, Oussalah A, Nadaf J, Coelho D, Josse T, Flayac J, Robert A, Koscinski I, Gastin I, Filhine-Tresarrieu P, Pupavac M, Brebner A, Watkins D, Pastinen T, Montpetit A, Hariri F, Tregouët D, Raby BA, Chung WK, Morange PE, Froese DS, Baumgartner MR, Benoist JF, Ficicioglu C, Marchand V, Motorin Y, Bonnemains C, Feillet F, Majewski J, Rosenblatt DS. Guéant JL, et al. Among authors: montpetit a. Nat Commun. 2018 Feb 2;9(1):554. doi: 10.1038/s41467-018-03054-w. Nat Commun. 2018. PMID: 29396438 Free PMC article.
H3K27M induces defective chromatin spread of PRC2-mediated repressive H3K27me2/me3 and is essential for glioma tumorigenesis.
Harutyunyan AS, Krug B, Chen H, Papillon-Cavanagh S, Zeinieh M, De Jay N, Deshmukh S, Chen CCL, Belle J, Mikael LG, Marchione DM, Li R, Nikbakht H, Hu B, Cagnone G, Cheung WA, Mohammadnia A, Bechet D, Faury D, McConechy MK, Pathania M, Jain SU, Ellezam B, Weil AG, Montpetit A, Salomoni P, Pastinen T, Lu C, Lewis PW, Garcia BA, Kleinman CL, Jabado N, Majewski J. Harutyunyan AS, et al. Among authors: montpetit a. Nat Commun. 2019 Mar 19;10(1):1262. doi: 10.1038/s41467-019-09140-x. Nat Commun. 2019. PMID: 30890717 Free PMC article.
What can exome sequencing do for you?
Majewski J, Schwartzentruber J, Lalonde E, Montpetit A, Jabado N. Majewski J, et al. Among authors: montpetit a. J Med Genet. 2011 Sep;48(9):580-9. doi: 10.1136/jmedgenet-2011-100223. Epub 2011 Jul 5. J Med Genet. 2011. PMID: 21730106 Review.
Global patterns of cis variation in human cells revealed by high-density allelic expression analysis.
Ge B, Pokholok DK, Kwan T, Grundberg E, Morcos L, Verlaan DJ, Le J, Koka V, Lam KC, Gagné V, Dias J, Hoberman R, Montpetit A, Joly MM, Harvey EJ, Sinnett D, Beaulieu P, Hamon R, Graziani A, Dewar K, Harmsen E, Majewski J, Göring HH, Naumova AK, Blanchette M, Gunderson KL, Pastinen T. Ge B, et al. Among authors: montpetit a. Nat Genet. 2009 Nov;41(11):1216-22. doi: 10.1038/ng.473. Epub 2009 Oct 18. Nat Genet. 2009. PMID: 19838192
Genome-wide assessment of imprinted expression in human cells.
Morcos L, Ge B, Koka V, Lam KC, Pokholok DK, Gunderson KL, Montpetit A, Verlaan DJ, Pastinen T. Morcos L, et al. Among authors: montpetit a. Genome Biol. 2011;12(3):R25. doi: 10.1186/gb-2011-12-3-r25. Epub 2011 Mar 21. Genome Biol. 2011. PMID: 21418647 Free PMC article.
Fine mapping of the insulin-induced gene 2 identifies a variant associated with LDL cholesterol and total apolipoprotein B levels.
Do R, Bailey SD, Paré G, Montpetit A, Desbiens K, Hudson TJ, Yusuf S, Bouchard C, Gaudet D, Pérusse L, Anand S, Vohl MC, Pastinen T, Engert JC. Do R, et al. Among authors: montpetit a. Circ Cardiovasc Genet. 2010 Oct;3(5):454-61. doi: 10.1161/CIRCGENETICS.109.917039. Epub 2010 Sep 21. Circ Cardiovasc Genet. 2010. PMID: 20858904
Driver mutations in histone H3.3 and chromatin remodelling genes in paediatric glioblastoma.
Schwartzentruber J, Korshunov A, Liu XY, Jones DT, Pfaff E, Jacob K, Sturm D, Fontebasso AM, Quang DA, Tönjes M, Hovestadt V, Albrecht S, Kool M, Nantel A, Konermann C, Lindroth A, Jäger N, Rausch T, Ryzhova M, Korbel JO, Hielscher T, Hauser P, Garami M, Klekner A, Bognar L, Ebinger M, Schuhmann MU, Scheurlen W, Pekrun A, Frühwald MC, Roggendorf W, Kramm C, Dürken M, Atkinson J, Lepage P, Montpetit A, Zakrzewska M, Zakrzewski K, Liberski PP, Dong Z, Siegel P, Kulozik AE, Zapatka M, Guha A, Malkin D, Felsberg J, Reifenberger G, von Deimling A, Ichimura K, Collins VP, Witt H, Milde T, Witt O, Zhang C, Castelo-Branco P, Lichter P, Faury D, Tabori U, Plass C, Majewski J, Pfister SM, Jabado N. Schwartzentruber J, et al. Among authors: montpetit a. Nature. 2012 Jan 29;482(7384):226-31. doi: 10.1038/nature10833. Nature. 2012. PMID: 22286061
Fusion of TTYH1 with the C19MC microRNA cluster drives expression of a brain-specific DNMT3B isoform in the embryonal brain tumor ETMR.
Kleinman CL, Gerges N, Papillon-Cavanagh S, Sin-Chan P, Pramatarova A, Quang DA, Adoue V, Busche S, Caron M, Djambazian H, Bemmo A, Fontebasso AM, Spence T, Schwartzentruber J, Albrecht S, Hauser P, Garami M, Klekner A, Bognar L, Montes JL, Staffa A, Montpetit A, Berube P, Zakrzewska M, Zakrzewski K, Liberski PP, Dong Z, Siegel PM, Duchaine T, Perotti C, Fleming A, Faury D, Remke M, Gallo M, Dirks P, Taylor MD, Sladek R, Pastinen T, Chan JA, Huang A, Majewski J, Jabado N. Kleinman CL, et al. Among authors: montpetit a. Nat Genet. 2014 Jan;46(1):39-44. doi: 10.1038/ng.2849. Epub 2013 Dec 8. Nat Genet. 2014. PMID: 24316981
129 results