| Driver mutations in histone H3. 3 and chromatin remodelling genes in paediatric glioblastoma J Schwartzentruber, A Korshunov, XY Liu, DTW Jones, E Pfaff, K Jacob, ... Nature 484 (7392), 130-130, 2012 | 2651 | 2012 |
| Hotspot mutations in H3F3A and IDH1 define distinct epigenetic and biological subgroups of glioblastoma D Sturm, H Witt, V Hovestadt, DA Khuong-Quang, DTW Jones, ... Cancer cell 22 (4), 425-437, 2012 | 1963 | 2012 |
| K27M mutation in histone H3. 3 defines clinically and biologically distinct subgroups of pediatric diffuse intrinsic pontine gliomas DA Khuong-Quang, P Buczkowicz, P Rakopoulos, XY Liu, ... Acta neuropathologica 124 (3), 439-447, 2012 | 982 | 2012 |
| Recurrent somatic alterations of FGFR1 and NTRK2 in pilocytic astrocytoma DTW Jones, B Hutter, N Jäger, A Korshunov, M Kool, HJ Warnatz, ... Nature genetics 45 (8), 927-932, 2013 | 817 | 2013 |
| De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes JB Rivière, GM Mirzaa, BJ O'Roak, M Beddaoui, D Alcantara, RL Conway, ... Nature genetics 44 (8), 934-940, 2012 | 721 | 2012 |
| Paediatric and adult glioblastoma: multiform (epi) genomic culprits emerge D Sturm, S Bender, DTW Jones, P Lichter, J Grill, O Becher, C Hawkins, ... Nature Reviews Cancer 14 (2), 92-107, 2014 | 611 | 2014 |
| What can exome sequencing do for you? J Majewski, J Schwartzentruber, E Lalonde, A Montpetit, N Jabado Journal of medical genetics 48 (9), 580-589, 2011 | 510 | 2011 |
| Frequent ATRX mutations and loss of expression in adult diffuse astrocytic tumors carrying IDH1/IDH2 and TP53 mutations XY Liu, N Gerges, A Korshunov, N Sabha, DA Khuong-Quang, ... Acta neuropathologica 124 (5), 615-625, 2012 | 506 | 2012 |
| Clonal selection drives genetic divergence of metastatic medulloblastoma X Wu, PA Northcott, A Dubuc, AJ Dupuy, DJH Shih, H Witt, S Croul, ... Nature 482 (7386), 529-533, 2012 | 485 | 2012 |
| Germline and somatic SMARCA4 mutations characterize small cell carcinoma of the ovary, hypercalcemic type L Witkowski, J Carrot-Zhang, S Albrecht, S Fahiminiya, N Hamel, ... Nature genetics 46 (5), 438-443, 2014 | 466 | 2014 |
| Recurrent somatic mutations in ACVR1 in pediatric midline high-grade astrocytoma AM Fontebasso, S Papillon-Cavanagh, J Schwartzentruber, H Nikbakht, ... Nature genetics 46 (5), 462-466, 2014 | 445 | 2014 |
| Utility of whole‐exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care SL Sawyer, T Hartley, DA Dyment, CL Beaulieu, J Schwartzentruber, ... Clinical genetics 89 (3), 275-284, 2016 | 428 | 2016 |
| The histone mark H3K36me2 recruits DNMT3A and shapes the intergenic DNA methylation landscape DN Weinberg, S Papillon-Cavanagh, H Chen, Y Yue, X Chen, ... Nature 573 (7773), 281-286, 2019 | 415 | 2019 |
| Genome-wide analysis of transcript isoform variation in humans T Kwan, D Benovoy, C Dias, S Gurd, C Provencher, P Beaulieu, ... Nature genetics 40 (2), 225-231, 2008 | 393 | 2008 |
| Distribution and characterization of regulatory elements in the human genome J Majewski, J Ott Genome research 12 (12), 1827-1836, 2002 | 383 | 2002 |
| Histone H3K36 mutations promote sarcomagenesis through altered histone methylation landscape C Lu, SU Jain, D Hoelper, D Bechet, RC Molden, L Ran, D Murphy, ... Science 352 (6287), 844-849, 2016 | 382 | 2016 |
| Mutations in SETD2 and genes affecting histone H3K36 methylation target hemispheric high-grade gliomas AM Fontebasso, J Schwartzentruber, DA Khuong-Quang, XY Liu, D Sturm, ... Acta neuropathologica 125 (5), 659-669, 2013 | 332 | 2013 |
| Meta-analysis of genome scans of age-related macular degeneration SA Fisher, GR Abecasis, BM Yashar, S Zareparsi, A Swaroop, SK Iyengar, ... Human molecular genetics 14 (15), 2257-2264, 2005 | 328 | 2005 |
| Biallelic mutations in BRCA1 cause a new Fanconi anemia subtype SL Sawyer, L Tian, M Kähkönen, J Schwartzentruber, M Kircher, ... Cancer discovery 5 (2), 135-142, 2015 | 312 | 2015 |
| FORGE Canada Consortium: outcomes of a 2-year national rare-disease gene-discovery project CL Beaulieu, J Majewski, J Schwartzentruber, ME Samuels, ... The American Journal of Human Genetics 94 (6), 809-817, 2014 | 280 | 2014 |
Jeremy SchwartzentruberIllumina Artificial Intelligence Lab在 illumina.com 的电子邮件经过验证
