| 36658389 | Whole genome sequencing provides comprehensive genetic testing in childhood B-cell acute lymphoblastic leukaemia. | Leukemia | 2023 |
| 37216686 | The genomic landscape of acute lymphoblastic leukemia with intrachromosomal amplification of chromosome 21. | Blood | 2023 |
| 36550215 | Integrative genomic analysis of childhood acute lymphoblastic leukaemia lacking a genetic biomarker in the UKALL2003 clinical trial. | Leukemia | 2023 |
| 36333502 | Whole-genome sequencing of chronic lymphocytic leukemia identifies subgroups with distinct biological and clinical features. | Nat Genet | 2022 |
| 33632293 | Clinical-grade whole-genome sequencing and 3' transcriptome analysis of colorectal cancer patients. | Genome Med | 2021 |
| 32807235 | Detection of ctDNA in plasma of patients with clinically localised prostate cancer is associated with rapid disease progression. | Genome Med | 2020 |
| 31964840 | Imaging breast cancer using hyperpolarized carbon-13 MRI. | Proc Natl Acad Sci U S A | 2020 |
| 29388947 | Clinical whole-genome sequencing from routine formalin-fixed, paraffin-embedded specimens: pilot study for the 100,000 Genomes Project. | Genet Med | 2018 |
| 29930474 | Familial congenital cataract, coloboma, and nystagmus phenotype with variable expression caused by mutation in <i>PAX6</i> in a South African family. | Mol Vis | 2018 |
| 27161491 | The somatic mutation profiles of 2,433 breast cancers refines their genomic and transcriptomic landscapes. | Nat Commun | 2016 |
| 27264733 | Erratum: The somatic mutation profiles of 2,433 breast cancers refine their genomic and transcriptomic landscapes. | Nat Commun | 2016 |
| 26192915 | Whole-genome sequencing provides new insights into the clonal architecture of Barrett's esophagus and esophageal adenocarcinoma. | Nat Genet | 2015 |
| 23817176 | Intraclonal heterogeneity is a critical early event in the development of myeloma and precedes the development of clinical symptoms. | Leukemia | 2014 |
| 25587359 | Assessment of patient-derived tumour xenografts (PDXs) as a discovery tool for cancer epigenomics. | Genome Med | 2014 |
| 24857694 | An enhancer polymorphism at the cardiomyocyte intercalated disc protein NOS1AP locus is a major regulator of the QT interval. | Am J Hum Genet | 2014 |
| 24335234 | SAMHD1 is mutated recurrently in chronic lymphocytic leukemia and is involved in response to DNA damage. | Blood | 2014 |
| 23863747 | Meta-analysis of IDH-mutant cancers identifies EBF1 as an interaction partner for TET2. | Nat Commun | 2013 |
| 22674553 | A validated tumorgraft model reveals activity of dovitinib against renal cell carcinoma. | Sci Transl Med | 2012 |
| 22915640 | Monitoring chronic lymphocytic leukemia progression by whole genome sequencing reveals heterogeneous clonal evolution patterns. | Blood | 2012 |
| 22683710 | BAP1 loss defines a new class of renal cell carcinoma. | Nat Genet | 2012 |
| 20016485 | A comprehensive catalogue of somatic mutations from a human cancer genome. | Nature | 2010 |
| 18208332 | Large-scale population study of human cell lines indicates that dosage compensation is virtually complete. | PLoS Genet | 2008 |
| 18987734 | Accurate whole human genome sequencing using reversible terminator chemistry. | Nature | 2008 |
| 17333537 | Genes flanking Xist in mouse and human are separated on the X chromosome in American marsupials. | Chromosome Res | 2007 |
| 17943131 | Genome-wide detection and characterization of positive selection in human populations. | Nature | 2007 |
| 17943122 | A second generation human haplotype map of over 3.1 million SNPs. | Nature | 2007 |
| 16650760 | The sequences of the human sex chromosomes. | Curr Opin Genet Dev | 2006 |
| 16710414 | The DNA sequence and biological annotation of human chromosome 1. | Nature | 2006 |
| 15772651 | The DNA sequence of the human X chromosome. | Nature | 2005 |
| 16241968 | More on: polymorphism and hemophilia A causing inversions in distal Xq28: a complex picture. | J Thromb Haemost | 2005 |
| 16235118 | Isolation, X location and activity of the marsupial homologue of SLC16A2, an XIST-flanking gene in eutherian mammals. | Chromosome Res | 2005 |
| 16380909 | Heterogeneous duplications in patients with Pelizaeus-Merzbacher disease suggest a mechanism of coupled homologous and nonhomologous recombination. | Am J Hum Genet | 2005 |
| 16030148 | Progressive proximal expansion of the primate X chromosome centromere. | Proc Natl Acad Sci U S A | 2005 |
| 15164054 | The DNA sequence and comparative analysis of human chromosome 10. | Nature | 2004 |
| 15591263 | Position effect on PLP1 may cause a subset of Pelizaeus-Merzbacher disease symptoms. | J Med Genet | 2004 |
| 15057823 | The DNA sequence and analysis of human chromosome 13. | Nature | 2004 |
| 12754510 | Positional cloning of a quantitative trait locus on chromosome 13q14 that influences immunoglobulin E levels and asthma. | Nat Genet | 2003 |
| 14574404 | The DNA sequence and analysis of human chromosome 6. | Nature | 2003 |
| 12647244 | Construction and integration of radiation-hybrid and cytogenetic maps of dog Chromosome X. | Mamm Genome | 2003 |
| 11944989 | An integrated, functionally annotated gene map of the DXS8026-ELK1 interval on human Xp11.3-Xp11.23: potential hotspot for neurogenetic disorders. | Genomics | 2002 |
| 11827456 | Physical and transcript map of the hereditary prostate cancer region at xq27. | Genomics | 2002 |
| 11170748 | A 6.9-Mb high-resolution BAC/PAC contig of human 4p15.3-p16.1, a candidate region for bipolar affective disorder. | Genomics | 2001 |
| 11374897 | A novel poly(A)-binding protein gene (PABPC5) maps to an X-specific subinterval in the Xq21.3/Yp11.2 homology block of the human sex chromosomes. | Genomics | 2001 |
| 11237015 | The physical maps for sequencing human chromosomes 1, 6, 9, 10, 13, 20 and X. | Nature | 2001 |
| 11237011 | Initial sequencing and analysis of the human genome. | Nature | 2001 |
| 11780052 | The DNA sequence and comparative analysis of human chromosome 20. | Nature | 2001 |
| 11499681 | Physical and transcriptional mapping of the X-linked cleft palate and ankyloglossia (CPX) critical region. | Hum Genet | 2001 |
| 11401425 | Identification and characterization of KLHL4, a novel human homologue of the Drosophila Kelch gene that maps within the X-linked cleft palate and Ankyloglossia (CPX) critical region. | Genomics | 2001 |
| 11029003 | An SNP map of human chromosome 22. | Nature | 2000 |
| 10049581 | Identification and characterization of the human homologue (RAI2) of a mouse retinoic acid-induced gene in Xp22. | Genomics | 1999 |