Select Publications

Journal articles

Ruark E; Snape K; Humburg P; Loveday C; Bajrami I; Brough R; Rodrigues DN; Renwick A; Seal S; Ramsay E; Duarte SDV; Rivas MA; Warren-Perry M; Zachariou A; Campion-Flora A; Hanks S; Murray A; Pour NA; Douglas J; Gregory L; Rimmer A; Walker NM; Yang TP; Adlard JW; Barwell J; Berg J; Brady AF; Brewer C; Brice G; Chapman C; Cook J; Davidson R; Donaldson A; Douglas F; Eccles D; Gareth Evans D; Greenhalgh L; Henderson A; Izatt L; Kumar A; Lalloo F; Miedzybrodzka Z; Morrison PJ; Paterson J; Porteous M; Rogers MT; Shanley S; Walker L; Gore M; Houlston R; Brown MA; Caufield MJ; Deloukas P; McCarthy MI; Todd JA; Turnbull C; Reis-Filho JS; Ashworth A; Antoniou AC; Lord CJ; Donnelly P; Rahman N, 2013, 'Mosaic PPM1D mutations are associated with predisposition to breast and ovarian cancer', Nature, 493, pp. 406 - 410, http://dx.doi.org/10.1038/nature11725

Cossins J; Belaya K; Hicks D; Salih MA; Finlayson S; Carboni N; Liu WW; Maxwell S; Zoltowska K; Farsani GT; Laval S; Seidhamed MZ; Donnelly P; Bentley D; McGowan SJ; Mueller J; Palace J; Lochmueller H; Beeson D, 2013, 'Congenital myasthenic syndromes due to mutations in ALG2 and ALG14', BRAIN, 136, pp. 944 - 956, http://dx.doi.org/10.1093/brain/awt010

Babbs C; Roberts NA; Sanchez-Pulido L; McGowan SJ; Ahmed MR; Brown JM; Sabry MA; Bentley DR; McVean GA; Donnelly P; Gileadi O; Ponting CP; Higgs DR; Buckle VJ, 2013, 'Homozygous mutations in a predicted endonuclease are a novel cause of congenital dyserythropoietic anemia type I', HAEMATOLOGICA, 98, pp. 1383 - 1387, http://dx.doi.org/10.3324/haematol.2013.089490

Sharma VP; Fenwick AL; Brockop MS; McGowan SJ; Goos JAC; Hoogeboom AJM; Brady AF; Jeelani NO; Lynch SA; Mulliken JB; Murray DJ; Phipps JM; Sweeney E; Tomkins SE; Wilson LC; Bennett S; Cornall RJ; Broxholme J; Kanapin A; Johnson D; Wall SA; van der Spek PJ; Mathijssen IMJ; Maxson RE; Twigg SRF; Wilkie AOM, 2013, 'Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis', NATURE GENETICS, 45, pp. 304 - 307, http://dx.doi.org/10.1038/ng.2531

Auton A; Fledel-Alon A; Pfeifer S; Venn O; Ségurel L; Street T; Leffler EM; Bowden R; Aneas I; Broxholme J; Humburg P; Iqbal Z; Lunter G; Maller J; Hernandez RD; Melton C; Venkat A; Nobrega MA; Bontrop R; Myers S; Donnelly P; Przeworski M; McVean G, 2012, 'A fine-scale chimpanzee genetic map from population sequencing', Science, 336, pp. 193 - 198, http://dx.doi.org/10.1126/science.1216872

Wong D; Teixeira A; Oikonomopoulos S; Humburg P; Lone IN; Saliba D; Siggers T; Bulyk M; Angelov D; Dimitrov S; Udalova IA; Ragoussis J, 2011, 'Extensive characterization of NF-κB binding uncovers non-canonical motifs and advances the interpretation of genetic functional traits', Genome Biology, 12, http://dx.doi.org/10.1186/gb-2011-12-7-r70

Humburg P; Helliwell CA; Bulger D; Stone G, 2011, 'ChIPseqR: Analysis of ChIP-seq experiments', BMC Bioinformatics, 12, http://dx.doi.org/10.1186/1471-2105-12-39

Humburg P; Bulger D; Stone G, 2008, 'Parameter estimation for robust HMM analysis of ChIP-chip data', BMC Bioinformatics, 9, http://dx.doi.org/10.1186/1471-2105-9-343

Steuer R; Humburg P; Selbig J, 2006, 'Validation and functional annotation of expression-based clusters based on gene ontology', BMC Bioinformatics, 7, http://dx.doi.org/10.1186/1471-2105-7-380

Steuer R; Humburg P; Selbig J, 2005, 'Validation and Functional Annotation of Expression-based Clusters based on Gene Ontology', GBM Annual Fall meeting Berlin/Potsdam 2005, 2005, http://dx.doi.org/10.1240/sav_gbm_2005_h_001431


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