Jacek Majewski
Jacek Majewski
Associate Professor of Human Genetics, McGill University
Verified email at mcgill.ca - Homepage
TitleCited byYear
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
14572012
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
10892012
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
4922012
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
4642013
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
4542012
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
3642012
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
3622011
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
3492014
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
3302008
Distribution and characterization of regulatory elements in the human genome
J Majewski, J Ott
Genome research 12 (12), 1827-1836, 2002
3272002
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
2792012
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
2732005
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
2452014
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
2332014
Global patterns of cis variation in human cells revealed by high-density allelic expression analysis
B Ge, DK Pokholok, T Kwan, E Grundberg, L Morcos, DJ Verlaan, J Le, ...
Nature genetics 41 (11), 1216-1222, 2009
2262009
Age-related macular degeneration—a genome scan in extended families
J Majewski, DW Schultz, RG Weleber, MB Schain, AO Edwards, ...
The American Journal of Human Genetics 73 (3), 540-550, 2003
2202003
The study of eQTL variations by RNA-seq: from SNPs to phenotypes
J Majewski, T Pastinen
Trends in genetics 27 (2), 72-79, 2011
1972011
Barriers to genetic exchange between bacterial species: Streptococcus pneumoniae transformation
J Majewski, P Zawadzki, P Pickerill, FM Cohan, CG Dowson
Journal of Bacteriology 182 (4), 1016-1023, 2000
1932000
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
1882015
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
1852013
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