Jeremy Schwartzentruber
Jeremy Schwartzentruber
Wellcome Sanger Institute
Verified email at sanger.ac.uk
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
17402012
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
12882012
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
6082012
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
5612013
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
5152012
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
4042012
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
3962011
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
3302012
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
2922014
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
2502016
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
2322015
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
2282013
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
2012014
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
1532012
Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly
MA Lines, L Huang, J Schwartzentruber, SL Douglas, DC Lynch, ...
The American Journal of Human Genetics 90 (2), 369-377, 2012
1502012
Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration
RK Koenekoop, H Wang, J Majewski, X Wang, I Lopez, H Ren, Y Chen, ...
Nature genetics 44 (9), 1035, 2012
1492012
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
1462013
Fusion of TTYH1 with the C19MC microRNA cluster drives expression of a brain-specific DNMT3B isoform in the embryonal brain tumor ETMR
CL Kleinman, N Gerges, S Papillon-Cavanagh, P Sin-Chan, ...
Nature genetics 46 (1), 39-44, 2014
1432014
Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome
RL Hood, MA Lines, SM Nikkel, J Schwartzentruber, C Beaulieu, ...
The American Journal of Human Genetics 90 (2), 308-313, 2012
1352012
Mutations in DDHD2, encoding an intracellular phospholipase A1, cause a recessive form of complex hereditary spastic paraplegia
JHM Schuurs-Hoeijmakers, MT Geraghty, EJ Kamsteeg, S Ben-Salem, ...
The American Journal of Human Genetics 91 (6), 1073-1081, 2012
1282012
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