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Jeremy Schwartzentruber
Jeremy Schwartzentruber
Illumina Artificial Intelligence Lab
Verified email at illumina.com
Title
Cited by
Cited by
Year
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
26082012
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
19362012
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
9552012
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
7912013
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
7062012
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
7002021
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
4982012
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
4982011
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
4802012
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
4412014
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
4172016
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
3252013
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
3082021
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
3072021
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
3072015
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
2932021
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
2772014
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
2492013
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
2242014
Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome
FP Bernier, O Caluseriu, S Ng, J Schwartzentruber, KJ Buckingham, ...
The American Journal of Human Genetics 90 (5), 925-933, 2012
2232012
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Articles 1–20