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A comprehensive catalogue of somatic mutations from a human cancer genomePLEASANCE, Erin D; CHEETHAM, R. Keira; KAI YE et al.Nature (London). 2010, Vol 463, Num 7278, pp 191-196, issn 0028-0836, 6 p.Article

Systematic sequencing of renal carcinoma reveals inactivation of histone modifying genesDALGLIESH, Gillian L; FURGE, Kyle; TEAGUE, Jon et al.Nature (London). 2010, Vol 463, Num 7279, pp 360-363, issn 0028-0836, 4 p.Article

High throughput DNA sequence variant detection by conformation sensitive capillary electrophoresis and automated peak comparisonDAVIES, Helen; DICKS, Ed; STEVENS, Claire et al.Genomics (San Diego, Calif.). 2006, Vol 87, Num 3, pp 427-432, issn 0888-7543, 6 p.Article

A Genome-wide Association Analysis of a Broad Psychosis Phenotype Identifies Three Loci for Further InvestigationBRAMON, Elvira; PIRINEN, Matti; LANGFORD, Cordelia et al.Biological psychiatry (1969). 2014, Vol 75, Num 5, pp 386-397, issn 0006-3223, 12 p.Article

Somatic mutations of the histone H3K27 demethylase gene UTX in human cancerVAN HAAFTEN, Gijs; DALGLIESH, Gillian L; BUTLER, Adam et al.Nature genetics. 2009, Vol 41, Num 5, pp 521-523, issn 1061-4036, 3 p.Article

Complex landscapes of somatic rearrangement in human breast cancer genomesSTEPHENS, Philip J; MCBRIDE, David J; GREENMAN, Chris D et al.Nature (London). 2009, Vol 462, Num 7276, pp 1005-1010, issn 0028-0836, 6 p.Article

Somatic mutations of the protein kinase gene family in human lung cancerDAVIES, Helen; HUNTER, Chris; PARKER, Adrian et al.Cancer research (Baltimore). 2005, Vol 65, Num 17, pp 7591-7595, issn 0008-5472, 5 p.Article

High-density genetic mapping identifies new susceptibility loci for rheumatoid arthritisEYRE, Steve; BOWES, John; AMOS, Christopher I et al.Nature genetics. 2012, Vol 44, Num 12, pp 1336-1340, issn 1061-4036, 5 p.Article

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardationTARPEY, Patrick S; SMITH, Raffaella; STEPHENS, Phil et al.Nature genetics. 2009, Vol 41, Num 5, pp 535-543, issn 1061-4036, 9 p.Article

Patterns of somatic mutation in human cancer genomesGREENMAN, Christopher; STEPHENS, Philip; EDKINS, Sarah et al.Nature (London). 2007, Vol 446, Num 7132, pp 153-158, issn 0028-0836, 6 p.Article

Mutations in the gene encoding the sigma 2 subunit of the adaptor protein 1 complex, AP1S2, cause X-linked mental retardationTARPEY, Patrick S; STEVENS, Claire; DICKS, Ed et al.American journal of human genetics. 2006, Vol 79, Num 6, pp 1119-1124, issn 0002-9297, 6 p.Article

Mutations in the DLG3 gene cause nonsyndromic X-linked mental retardationTARPEY, Patrick; PARNAU, Josep; KORNY, Angelique et al.American journal of human genetics. 2004, Vol 75, Num 2, pp 318-324, issn 0002-9297, 7 p.Article

Dense genotyping identifies and localizes multiple common and rare variant association signals in celiac diseaseTRYNKA, Gosia; HUNT, Karen A; DE LA CONCHA, Emilio G et al.Nature genetics. 2011, Vol 43, Num 12, pp 1193-1201, issn 1061-4036, 9 p.Article

A small-cell lung cancer genome with complex signatures of tobacco exposurePLEASANCE, Erin D; STEPHENS, Philip J; VARELA, Ignacio et al.Nature (London). 2010, Vol 463, Num 7278, pp 184-190, issn 0028-0836, 7 p.Article

Identification of somatically acquired rearrangements in cancer using genome-wide massively parallel paired-end sequencingCAMPBELL, Peter J; STEPHENS, Philip J; TEAGUE, Jon W et al.Nature genetics. 2008, Vol 40, Num 6, pp 722-729, issn 1061-4036, 8 p.Article

SLC9A6 Mutations Cause X-Linked Mental Retardation, Microcephaly, Epilepsy, and Ataxia, a Phenotype Mimicking Angelman SyndromeGILFILLAN, Gregor D; SELMER, Kaja K; SJØHOLM, Hans et al.American journal of human genetics. 2008, Vol 82, Num 4, pp 1003-1010, issn 0002-9297, 8 p.Article

Chromosomally unstable mouse tumours have genomic alterations similar to diverse human cancersMASER, Richard S; CHOUDHURY, Bhudipa; LIN, Eric et al.Nature (London). 2007, Vol 447, Num 7147, pp 966-971, issn 0028-0836, 6 p.Article

Mutations in ZDHHC9, which encodes a palmitoyltransferase of NRAS and HRAS, cause X-linked mental retardation associated with a marfanoid habitusRAYMOND, F. Lucy; TARPEY, Patrick S; COLE, Jennifer et al.American journal of human genetics. 2007, Vol 80, Num 5, pp 982-987, issn 0002-9297, 6 p.Article

A hypermutation phenotype and somatic MSH6 mutations in recurrent human malignant gliomas after alkylator chemotherapyHUNTER, Chris; SMITH, Raffaella; O'MEARA, Sarah et al.Cancer research (Baltimore). 2006, Vol 66, Num 8, pp 3987-3991, issn 0008-5472, 5 p.Article

Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunityTSOI, Lam C; SPAIN, Sarah L; KANG, Hyun M et al.Nature genetics. 2012, Vol 44, Num 12, pp 1341-1348, issn 1061-4036, 8 p.Article

Abdominal Aortic Aneurysm Is Associated with a Variant in Low-Density Lipoprotein Receptor-Related Protein 1BOWN, Matthew J; JONES, Gregory T; CHILD, Anne H et al.American journal of human genetics. 2011, Vol 89, Num 5, pp 619-627, issn 0002-9297, 9 p.Article

Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype―phenotype correlationRUJIRABANJERD, Sinitdhorn; NELSON, John; FUTREAL, P. Andrew et al.European journal of human genetics. 2010, Vol 18, Num 3, pp 330-335, issn 1018-4813, 6 p.Article

X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairmentDIBBENS, Leanne M; TARPEY, Patrick S; EDKINS, Sarah et al.Nature genetics. 2008, Vol 40, Num 6, pp 776-781, issn 1061-4036, 6 p.Article

Oligosaccharyltransferase-Subunit Mutations in Nonsyndromic Mental RetardationMOLINARI, Florence; FOULQUIER, Francois; MATTHIJS, Gert et al.American journal of human genetics. 2008, Vol 82, Num 5, pp 1150-1157, issn 0002-9297, 8 p.Article