| 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 482 (7384), 226-231, 2012 | 2748 | 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 | 2019 | 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, 439-447, 2012 | 1017 | 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 | 842 | 2013 |
| Mapping the human genetic architecture of COVID-19 Writing group Writing group leaders Pathak Gita A. 6 Andrews Shea J. 7 Kanai ... Nature 600 (7889), 472-477, 2021 | 804 | 2021 |
| 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 | 742 | 2012 |
| 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 | 528 | 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, 615-625, 2012 | 512 | 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 | 487 | 2012 |
| 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 | 461 | 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 | 443 | 2016 |
| Open Targets Genetics: systematic identification of trait-associated genes using large-scale genetics and functional genomics M Ghoussaini, E Mountjoy, M Carmona, G Peat, EM Schmidt, A Hercules, ... Nucleic acids research 49 (D1), D1311-D1320, 2021 | 421 | 2021 |
| Genome-wide meta-analysis, fine-mapping and integrative prioritization implicate new Alzheimer’s disease risk genes J Schwartzentruber, S Cooper, JZ Liu, I Barrio-Hernandez, E Bello, ... Nature genetics 53 (3), 392-402, 2021 | 397 | 2021 |
| An open approach to systematically prioritize causal variants and genes at all published human GWAS trait-associated loci E Mountjoy, EM Schmidt, M Carmona, J Schwartzentruber, G Peat, ... Nature genetics 53 (11), 1527-1533, 2021 | 352 | 2021 |
| Open Targets Platform: supporting systematic drug–target identification and prioritisation D Ochoa, A Hercules, M Carmona, D Suveges, A Gonzalez-Uriarte, ... Nucleic acids research 49 (D1), D1302-D1310, 2021 | 348 | 2021 |
| 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, 659-669, 2013 | 342 | 2013 |
| 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 | 316 | 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 | 284 | 2014 |
| Mutations in SYNGAP1 Cause Intellectual Disability, Autism, and a Specific Form of Epilepsy by Inducing Haploinsufficiency MH Berryer, FF Hamdan, LL Klitten, RS Møller, L Carmant, ... Human mutation 34 (2), 385-394, 2013 | 279 | 2013 |
| CTP synthase 1 deficiency in humans reveals its central role in lymphocyte proliferation E Martin, N Palmic, S Sanquer, C Lenoir, F Hauck, C Mongellaz, ... Nature 510 (7504), 288-292, 2014 | 256 | 2014 |
Jacek MajewskiProfessor of Human Genetics, McGill University確認したメール アドレス: mcgill.ca