Selected
-
Decoding human fetal liver haematopoiesis.
Nature 2019;574;7778;365-371
PUBMED: 31597962; PMC: 6861135; DOI: 10.1038/s41586-019-1652-y
-
The genetic changes of Wilms tumour.
Nature reviews. Nephrology 2019;15;4;240-251
PUBMED: 30705419; DOI: 10.1038/s41581-019-0112-0
-
Undifferentiated Sarcomas Develop through Distinct Evolutionary Pathways.
Cancer cell 2019;35;3;441-456.e8
PUBMED: 30889380; PMC: 6428691; DOI: 10.1016/j.ccell.2019.02.002
-
Chromosome segregation errors generate a diverse spectrum of simple and complex genomic rearrangements.
Nature genetics 2019;51;4;705-715
PUBMED: 30833795; PMC: 6441390; DOI: 10.1038/s41588-019-0360-8
-
A Comparison Between Full-COLD PCR/HRM and PCR Sequencing for Detection of Mutations in Exon 9 of PIK3CA in Breast Cancer Patients.
Applied biochemistry and biotechnology 2019;187;3;975-983
PUBMED: 30109561; DOI: 10.1007/s12010-018-2859-3
-
An integrated genomic analysis of anaplastic meningioma identifies prognostic molecular signatures.
Scientific reports 2018;8;1;13537
PUBMED: 30202034; PMC: 6131140; DOI: 10.1038/s41598-018-31659-0
-
Rearrangement bursts generate canonical gene fusions in bone and soft tissue tumors.
Science (New York, N.Y.) 2018;361;6405
PUBMED: 30166462; PMC: 6176908; DOI: 10.1126/science.aam8419
-
Single-cell transcriptomes from human kidneys reveal the cellular identity of renal tumors.
Science (New York, N.Y.) 2018;361;6402;594-599
PUBMED: 30093597; PMC: 6104812; DOI: 10.1126/science.aat1699
-
Prediction of acute myeloid leukaemia risk in healthy individuals.
Nature 2018;559;7714;400-404
PUBMED: 29988082; PMC: 6485381; DOI: 10.1038/s41586-018-0317-6
-
Recurrent intragenic rearrangements of EGFR and BRAF in soft tissue tumors of infants.
Nature communications 2018;9;1;2378
PUBMED: 29915264; PMC: 6006309; DOI: 10.1038/s41467-018-04650-6
-
Recurrent rearrangements of FOS and FOSB define osteoblastoma.
Nature communications 2018;9;1;2150
PUBMED: 29858576; PMC: 5984627; DOI: 10.1038/s41467-018-04530-z
-
Intra-tumour diversification in colorectal cancer at the single-cell level.
Nature 2018;556;7702;457-462
PUBMED: 29643510; DOI: 10.1038/s41586-018-0024-3
-
Recurrent histone mutations in T-cell acute lymphoblastic leukaemia.
British journal of haematology 2018;184;4;676-679
PUBMED: 29602208; PMC: 6766952; DOI: 10.1111/bjh.15155
-
Mapping human development at single-cell resolution.
Development (Cambridge, England) 2018;145;3
PUBMED: 29439135; DOI: 10.1242/dev.152561
-
Use of CRISPR-modified human stem cell organoids to study the origin of mutational signatures in cancer.
Science (New York, N.Y.) 2017;358;6360;234-238
PUBMED: 28912133; PMC: 6038908; DOI: 10.1126/science.aao3130
-
The driver landscape of sporadic chordoma.
Nature communications 2017;8;1;890
PUBMED: 29026114; PMC: 5638846; DOI: 10.1038/s41467-017-01026-0
-
How to use… lymph node biopsy in paediatrics.
Archives of disease in childhood. Education and practice edition 2017;102;5;244-248
PUBMED: 28468821; DOI: 10.1136/archdischild-2015-309634
-
Genetics: Taking single-cell transcriptomics to the bedside.
Nature reviews. Clinical oncology 2017;14;10;590-592
PUBMED: 28762386; DOI: 10.1038/nrclinonc.2017.117
-
Recurrent mutation of IGF signalling genes and distinct patterns of genomic rearrangement in osteosarcoma.
Nature communications 2017;8;15936
PUBMED: 28643781; PMC: 5490007; DOI: 10.1038/ncomms15936
-
Molecular diagnoses of century-old childhood tumours.
The Lancet. Oncology 2017;18;5;e237
PUBMED: 28495283; DOI: 10.1016/S1470-2045(17)30226-7
-
Accurate Breakpoint Mapping in Apparently Balanced Translocation Families with Discordant Phenotypes Using Whole Genome Mate-Pair Sequencing.
PloS one 2017;12;1;e0169935
PUBMED: 28072833; PMC: 5225008; DOI: 10.1371/journal.pone.0169935
-
Retracing embryological fate.
Science (New York, N.Y.) 2016;354;6316;1109
PUBMED: 27934728; DOI: 10.1126/science.aal2189
-
Mutational signatures of ionizing radiation in second malignancies.
Nature communications 2016;7;12605
PUBMED: 27615322; PMC: 5027243; DOI: 10.1038/ncomms12605
-
Mutation Screening of BRCA Genes in 10 Iranian Males with Breast Cancer.
International journal of molecular and cellular medicine 2016;5;2;114-22
-
Frequent somatic transfer of mitochondrial DNA into the nuclear genome of human cancer cells.
Genome research 2015;25;6;814-24
PUBMED: 25963125; PMC: 4448678; DOI: 10.1101/gr.190470.115
-
Diagnostic value of H3F3A mutations in giant cell tumour of bone compared to osteoclast-rich mimics.
The journal of pathology. Clinical research 2015;1;2;113-23
PUBMED: 27499898; PMC: 4858131; DOI: 10.1002/cjp2.13
-
Combined hereditary and somatic mutations of replication error repair genes result in rapid onset of ultra-hypermutated cancers.
Nature genetics 2015;47;3;257-62
PUBMED: 25642631; DOI: 10.1038/ng.3202
-
High-throughput epitope discovery reveals frequent recognition of neo-antigens by CD4+ T cells in human melanoma.
Nature medicine 2015;21;1;81-5
PUBMED: 25531942; DOI: 10.1038/nm.3773
-
Dysfunction of phospholipase Cγ in immune disorders and cancer.
Trends in biochemical sciences 2014;39;12;603-11
PUBMED: 25456276; DOI: 10.1016/j.tibs.2014.09.004
-
Origins and functional consequences of somatic mitochondrial DNA mutations in human cancer.
eLife 2014;3
PUBMED: 25271376; PMC: 4371858; DOI: 10.7554/eLife.02935
-
Mobile DNA in cancer. Extensive transduction of nonrepetitive DNA mediated by L1 retrotransposition in cancer genomes.
Science (New York, N.Y.) 2014;345;6196;1251343
PUBMED: 25082706; PMC: 4380235; DOI: 10.1126/science.1251343
-
Genome sequencing of normal cells reveals developmental lineages and mutational processes.
Nature 2014;513;7518;422-425
PUBMED: 25043003; PMC: 4227286; DOI: 10.1038/nature13448
-
Processed pseudogenes acquired somatically during cancer development.
Nature communications 2014;5;3644
PUBMED: 24714652; PMC: 3996531; DOI: 10.1038/ncomms4644
-
Recurrent PTPRB and PLCG1 mutations in angiosarcoma.
Nature genetics 2014;46;4;376-379
PUBMED: 24633157; PMC: 4032873; DOI: 10.1038/ng.2921
-
Wiping versus suction to clear neonatal airways at birth.
Lancet (London, England) 2014;383;9918;695
PUBMED: 24560056; DOI: 10.1016/S0140-6736(14)60257-9
-
A pathogenic mosaic TP53 mutation in two germ layers detected by next generation sequencing.
PloS one 2014;9;5;e96531
PUBMED: 24810334; PMC: 4014518; DOI: 10.1371/journal.pone.0096531
-
What is next generation sequencing?
Archives of disease in childhood. Education and practice edition 2013;98;6;236-8
PUBMED: 23986538; PMC: 3841808; DOI: 10.1136/archdischild-2013-304340
-
Distinct H3F3A and H3F3B driver mutations define chondroblastoma and giant cell tumor of bone.
Nature genetics 2013;45;12;1479-82
PUBMED: 24162739; PMC: 3839851; DOI: 10.1038/ng.2814
-
Signatures of mutational processes in human cancer.
Nature 2013;500;7463;415-21
PUBMED: 23945592; PMC: 3776390; DOI: 10.1038/nature12477
-
Frequent mutation of the major cartilage collagen gene COL2A1 in chondrosarcoma.
Nature genetics 2013;45;8;923-6
PUBMED: 23770606; PMC: 3743157; DOI: 10.1038/ng.2668
2019
-
Decoding human fetal liver haematopoiesis.
Nature 2019;574;7778;365-371
PUBMED: 31597962; PMC: 6861135; DOI: 10.1038/s41586-019-1652-y
-
Spatiotemporal immune zonation of the human kidney.
Science (New York, N.Y.) 2019;365;6460;1461-1466
PUBMED: 31604275; PMC: 7343525; DOI: 10.1126/science.aat5031
-
The genetic changes of Wilms tumour.
Nature reviews. Nephrology 2019;15;4;240-251
PUBMED: 30705419; DOI: 10.1038/s41581-019-0112-0
-
Undifferentiated Sarcomas Develop through Distinct Evolutionary Pathways.
Cancer cell 2019;35;3;441-456.e8
PUBMED: 30889380; PMC: 6428691; DOI: 10.1016/j.ccell.2019.02.002
-
Chromosome segregation errors generate a diverse spectrum of simple and complex genomic rearrangements.
Nature genetics 2019;51;4;705-715
PUBMED: 30833795; PMC: 6441390; DOI: 10.1038/s41588-019-0360-8
-
A Comparison Between Full-COLD PCR/HRM and PCR Sequencing for Detection of Mutations in Exon 9 of PIK3CA in Breast Cancer Patients.
Applied biochemistry and biotechnology 2019;187;3;975-983
PUBMED: 30109561; DOI: 10.1007/s12010-018-2859-3
2018
-
An integrated genomic analysis of anaplastic meningioma identifies prognostic molecular signatures.
Scientific reports 2018;8;1;13537
PUBMED: 30202034; PMC: 6131140; DOI: 10.1038/s41598-018-31659-0
-
Rearrangement bursts generate canonical gene fusions in bone and soft tissue tumors.
Science (New York, N.Y.) 2018;361;6405
PUBMED: 30166462; PMC: 6176908; DOI: 10.1126/science.aam8419
-
Single-cell transcriptomes from human kidneys reveal the cellular identity of renal tumors.
Science (New York, N.Y.) 2018;361;6402;594-599
PUBMED: 30093597; PMC: 6104812; DOI: 10.1126/science.aat1699
-
Prediction of acute myeloid leukaemia risk in healthy individuals.
Nature 2018;559;7714;400-404
PUBMED: 29988082; PMC: 6485381; DOI: 10.1038/s41586-018-0317-6
-
Recurrent intragenic rearrangements of EGFR and BRAF in soft tissue tumors of infants.
Nature communications 2018;9;1;2378
PUBMED: 29915264; PMC: 6006309; DOI: 10.1038/s41467-018-04650-6
-
Recurrent rearrangements of FOS and FOSB define osteoblastoma.
Nature communications 2018;9;1;2150
PUBMED: 29858576; PMC: 5984627; DOI: 10.1038/s41467-018-04530-z
-
Intra-tumour diversification in colorectal cancer at the single-cell level.
Nature 2018;556;7702;457-462
PUBMED: 29643510; DOI: 10.1038/s41586-018-0024-3
-
Recurrent histone mutations in T-cell acute lymphoblastic leukaemia.
British journal of haematology 2018;184;4;676-679
PUBMED: 29602208; PMC: 6766952; DOI: 10.1111/bjh.15155
-
Mapping human development at single-cell resolution.
Development (Cambridge, England) 2018;145;3
PUBMED: 29439135; DOI: 10.1242/dev.152561
2017
-
Use of CRISPR-modified human stem cell organoids to study the origin of mutational signatures in cancer.
Science (New York, N.Y.) 2017;358;6360;234-238
PUBMED: 28912133; PMC: 6038908; DOI: 10.1126/science.aao3130
-
The driver landscape of sporadic chordoma.
Nature communications 2017;8;1;890
PUBMED: 29026114; PMC: 5638846; DOI: 10.1038/s41467-017-01026-0
-
How to use… lymph node biopsy in paediatrics.
Archives of disease in childhood. Education and practice edition 2017;102;5;244-248
PUBMED: 28468821; DOI: 10.1136/archdischild-2015-309634
-
Genetics: Taking single-cell transcriptomics to the bedside.
Nature reviews. Clinical oncology 2017;14;10;590-592
PUBMED: 28762386; DOI: 10.1038/nrclinonc.2017.117
-
Recurrent mutation of IGF signalling genes and distinct patterns of genomic rearrangement in osteosarcoma.
Nature communications 2017;8;15936
PUBMED: 28643781; PMC: 5490007; DOI: 10.1038/ncomms15936
-
Molecular diagnoses of century-old childhood tumours.
The Lancet. Oncology 2017;18;5;e237
PUBMED: 28495283; DOI: 10.1016/S1470-2045(17)30226-7
-
Accurate Breakpoint Mapping in Apparently Balanced Translocation Families with Discordant Phenotypes Using Whole Genome Mate-Pair Sequencing.
PloS one 2017;12;1;e0169935
PUBMED: 28072833; PMC: 5225008; DOI: 10.1371/journal.pone.0169935
2016
-
Retracing embryological fate.
Science (New York, N.Y.) 2016;354;6316;1109
PUBMED: 27934728; DOI: 10.1126/science.aal2189
-
Mutational signatures of ionizing radiation in second malignancies.
Nature communications 2016;7;12605
PUBMED: 27615322; PMC: 5027243; DOI: 10.1038/ncomms12605
-
Mutation Screening of BRCA Genes in 10 Iranian Males with Breast Cancer.
International journal of molecular and cellular medicine 2016;5;2;114-22
2015
-
Frequent somatic transfer of mitochondrial DNA into the nuclear genome of human cancer cells.
Genome research 2015;25;6;814-24
PUBMED: 25963125; PMC: 4448678; DOI: 10.1101/gr.190470.115
-
Diagnostic value of H3F3A mutations in giant cell tumour of bone compared to osteoclast-rich mimics.
The journal of pathology. Clinical research 2015;1;2;113-23
PUBMED: 27499898; PMC: 4858131; DOI: 10.1002/cjp2.13
-
Combined hereditary and somatic mutations of replication error repair genes result in rapid onset of ultra-hypermutated cancers.
Nature genetics 2015;47;3;257-62
PUBMED: 25642631; DOI: 10.1038/ng.3202
-
High-throughput epitope discovery reveals frequent recognition of neo-antigens by CD4+ T cells in human melanoma.
Nature medicine 2015;21;1;81-5
PUBMED: 25531942; DOI: 10.1038/nm.3773
2014
-
Dysfunction of phospholipase Cγ in immune disorders and cancer.
Trends in biochemical sciences 2014;39;12;603-11
PUBMED: 25456276; DOI: 10.1016/j.tibs.2014.09.004
-
Origins and functional consequences of somatic mitochondrial DNA mutations in human cancer.
eLife 2014;3
PUBMED: 25271376; PMC: 4371858; DOI: 10.7554/eLife.02935
-
Mobile DNA in cancer. Extensive transduction of nonrepetitive DNA mediated by L1 retrotransposition in cancer genomes.
Science (New York, N.Y.) 2014;345;6196;1251343
PUBMED: 25082706; PMC: 4380235; DOI: 10.1126/science.1251343
-
Genome sequencing of normal cells reveals developmental lineages and mutational processes.
Nature 2014;513;7518;422-425
PUBMED: 25043003; PMC: 4227286; DOI: 10.1038/nature13448
-
Processed pseudogenes acquired somatically during cancer development.
Nature communications 2014;5;3644
PUBMED: 24714652; PMC: 3996531; DOI: 10.1038/ncomms4644
-
Recurrent PTPRB and PLCG1 mutations in angiosarcoma.
Nature genetics 2014;46;4;376-379
PUBMED: 24633157; PMC: 4032873; DOI: 10.1038/ng.2921
-
Wiping versus suction to clear neonatal airways at birth.
Lancet (London, England) 2014;383;9918;695
PUBMED: 24560056; DOI: 10.1016/S0140-6736(14)60257-9
-
A pathogenic mosaic TP53 mutation in two germ layers detected by next generation sequencing.
PloS one 2014;9;5;e96531
PUBMED: 24810334; PMC: 4014518; DOI: 10.1371/journal.pone.0096531
2013
-
What is next generation sequencing?
Archives of disease in childhood. Education and practice edition 2013;98;6;236-8
PUBMED: 23986538; PMC: 3841808; DOI: 10.1136/archdischild-2013-304340
-
Distinct H3F3A and H3F3B driver mutations define chondroblastoma and giant cell tumor of bone.
Nature genetics 2013;45;12;1479-82
PUBMED: 24162739; PMC: 3839851; DOI: 10.1038/ng.2814
-
Signatures of mutational processes in human cancer.
Nature 2013;500;7463;415-21
PUBMED: 23945592; PMC: 3776390; DOI: 10.1038/nature12477
-
Frequent mutation of the major cartilage collagen gene COL2A1 in chondrosarcoma.
Nature genetics 2013;45;8;923-6
PUBMED: 23770606; PMC: 3743157; DOI: 10.1038/ng.2668