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Page 1
Human mutations in integrator complex subunits link transcriptome integrity to brain development.
Oegema R, Baillat D, Schot R, van Unen LM, Brooks A, Kia SK, Hoogeboom AJM, Xia Z, Li W, Cesaroni M, Lequin MH, van Slegtenhorst M, Dobyns WB, de Coo IFM, Verheijen FW, Kremer A, van der Spek PJ, Heijsman D, Wagner EJ, Fornerod M, Mancini GMS. Oegema R, et al. Among authors: van der spek pj, van unen lm, van slegtenhorst m. PLoS Genet. 2017 May 25;13(5):e1006809. doi: 10.1371/journal.pgen.1006809. eCollection 2017 May. PLoS Genet. 2017. PMID: 28542170 Free PMC article.
Large scale genome-wide association analyses identify novel genetic loci and mechanisms in hypertrophic cardiomyopathy.
Tadros R, Zheng SL, Grace C, Jordà P, Francis C, Jurgens SJ, Thomson KL, Harper AR, Ormondroyd E, West DM, Xu X, Theotokis PI, Buchan RJ, McGurk KA, Mazzarotto F, Boschi B, Pelo E, Lee M, Noseda M, Varnava A, Vermeer AM, Walsh R, Amin AS, van Slegtenhorst MA, Roslin N, Strug LJ, Salvi E, Lanzani C, de Marvao A; Hypergenes InterOmics Collaborators; Roberts JD, Tremblay-Gravel M, Giraldeau G, Cadrin-Tourigny J, L'Allier PL, Garceau P, Talajic M, Pinto YM, Rakowski H, Pantazis A, Baksi J, Halliday BP, Prasad SK, Barton PJ, O'Regan DP, Cook SA, de Boer RA, Christiaans I, Michels M, Kramer CM, Ho CY, Neubauer S; HCMR Investigators; Matthews PM, Wilde AA, Tardif JC, Olivotto I, Adler A, Goel A, Ware JS, Bezzina CR, Watkins H. Tadros R, et al. Among authors: van slegtenhorst ma. medRxiv [Preprint]. 2023 Feb 6:2023.01.28.23285147. doi: 10.1101/2023.01.28.23285147. medRxiv. 2023. PMID: 36778260 Free PMC article. Preprint.
EMQN: Recommendations for genetic testing in inherited cardiomyopathies and arrhythmias.
Hayesmoore JB, Bhuiyan ZA, Coviello DA, du Sart D, Edwards M, Iascone M, Morris-Rosendahl DJ, Sheils K, van Slegtenhorst M, Thomson KL. Hayesmoore JB, et al. Among authors: van slegtenhorst m. Eur J Hum Genet. 2023 Sep;31(9):1003-1009. doi: 10.1038/s41431-023-01421-w. Epub 2023 Jul 13. Eur J Hum Genet. 2023. PMID: 37443332 Free PMC article. Review.
A subtype of childhood acute lymphoblastic leukaemia with poor treatment outcome: a genome-wide classification study.
Den Boer ML, van Slegtenhorst M, De Menezes RX, Cheok MH, Buijs-Gladdines JG, Peters ST, Van Zutven LJ, Beverloo HB, Van der Spek PJ, Escherich G, Horstmann MA, Janka-Schaub GE, Kamps WA, Evans WE, Pieters R. Den Boer ML, et al. Among authors: van der spek pj, van zutven lj, van slegtenhorst m. Lancet Oncol. 2009 Feb;10(2):125-34. doi: 10.1016/S1470-2045(08)70339-5. Epub 2009 Jan 8. Lancet Oncol. 2009. PMID: 19138562 Free PMC article.
Mutations in Histone Acetylase Modifier BRPF1 Cause an Autosomal-Dominant Form of Intellectual Disability with Associated Ptosis.
Mattioli F, Schaefer E, Magee A, Mark P, Mancini GM, Dieterich K, Von Allmen G, Alders M, Coutton C, van Slegtenhorst M, Vieville G, Engelen M, Cobben JM, Juusola J, Pujol A, Mandel JL, Piton A. Mattioli F, et al. Among authors: van slegtenhorst m. Am J Hum Genet. 2017 Jan 5;100(1):105-116. doi: 10.1016/j.ajhg.2016.11.010. Epub 2016 Dec 8. Am J Hum Genet. 2017. PMID: 27939639 Free PMC article.
Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic Encephalopathy.
Lehman A, Thouta S, Mancini GMS, Naidu S, van Slegtenhorst M, McWalter K, Person R, Mwenifumbo J, Salvarinova R; CAUSES Study; EPGEN Study; Guella I, McKenzie MB, Datta A, Connolly MB, Kalkhoran SM, Poburko D, Friedman JM, Farrer MJ, Demos M, Desai S, Claydon T. Lehman A, et al. Among authors: van slegtenhorst m. Am J Hum Genet. 2017 Jul 6;101(1):65-74. doi: 10.1016/j.ajhg.2017.05.016. Epub 2017 Jun 29. Am J Hum Genet. 2017. PMID: 28669405 Free PMC article.
Correction: Human mutations in integrator complex subunits link transcriptome integrity to brain development.
Oegema R, Baillat D, Schot R, van Unen LM, Brooks A, Kia SK, Hoogeboom AJM, Xia Z, Li W, Cesaroni M, Lequin MH, van Slegtenhorst M, Dobyns WB, de Coo IFM, van den Berg D, Verheijen FW, Kremer A, van der Spek PJ, Heijsman D, Wagner EJ, Fornerod M, Mancini GMS. Oegema R, et al. Among authors: van der spek pj, van den berg d, van unen lm, van slegtenhorst m. PLoS Genet. 2017 Aug 1;13(8):e1006923. doi: 10.1371/journal.pgen.1006923. eCollection 2017 Aug. PLoS Genet. 2017. PMID: 28763441 Free PMC article.
141 results