By Dr Peter Humburg

Journal articles

Petousi N; Richard R; Terence RJ; Sally E; Celeste M; Cario H; Melanie J; Peter J; Peter A; McMullin MF; Donnelly P; Bell J; Bentley D; McVean G; Ratcliffe P; Taylor J; Wilkie A; Donelly P; Broxholme J; Buck D; Cazier JB; Cornall R; Gregory L; Knight J; Lunter G; Tomlinson I; Allan C; Attar M; Green A; Humphray S; Kingsbury Z; Lamble S; Lonie L; Pagnamenta A; Piazza P; Copley R; Fiddy S; Grocock R; Hatton E; Holmes C; Hughes L; Humburg P; Kanapin A; Lise S; Martin H; McCarthy D; Rimmer A; Sahgal N; Wright B; Yau C; Murray L, 2014, 'Erythrocytosis associated with a novel missense mutation in the BPGM gene', Haematologica, 99, pp. e201 - e204, http://dx.doi.org/10.3324/haematol.2014.109306

Martin HC; Kim GE; Pagnamenta AT; Murakami Y; Carvill GL; Meyer E; Copley RR; Rimmer A; Barcia G; Fleming MR; Kronengold J; Brown MR; Hudspith KA; Broxholme J; Kanapin A; Cazier J-B; Kinoshita T; Nabbout R; Consortium TW; Bentley D; McVean G; Heavin S; Zaiwalla Z; McShane T; Mefford HC; Shears D; Stewart H; Kurian MA; Scheffer IE; Blair E; Donnelly P; Kaczmarek LK; Taylor JC, 2014, 'Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis', Human Molecular Genetics, 23, pp. 3200 - 3211, http://dx.doi.org/10.1093/hmg/ddu030

Cazier JB; Rao SR; McLean CM; Walker AL; Wright BJ; Jaeger EEM; Kartsonaki C; Marsden L; Yau C; Camps C; Kaisaki P; Taylor J; Catto JW; Tomlinson IPM; Kiltie AE; Hamdy FC; Allan C; Attar M; Bell J; Bentley D; Broxholme J; Buck D; Copley R; Cornall R; Donnelly P; Fiddy S; Green A; Gregory L; Grocock R; Hatton E; Holmes C; Hughes L; Humburg P; Humphray S; Kanapin A; Kingsbury Z; Knight J; Lamble S; Lise S; Lonie L; Lunter G; Martin H; Murray L; McCarthy D; McVean G; Pagnamenta A; Piazza P; Polanco G; Ratcliffe P; Rimmer A; Sahgal N; Trebes A; Wilkie A; Wright B, 2014, 'Whole-genome sequencing of bladder cancers reveals somatic CDKN1A mutations and clinicopathological associations with mutation burden', Nature Communications, 5, http://dx.doi.org/10.1038/ncomms4756

McCarthy DJ; Humburg P; Kanapin A; Rivas MA; Gaulton K; Cazier JB; Donnelly P, 2014, 'Choice of transcripts and software has a large effect on variant annotation', Genome Medicine, 6, http://dx.doi.org/10.1186/gm543

Wong D; Lee W; Humburg P; Makino S; Lau E; Naranbhai V; Fairfax BP; Chan K; Plant K; Knight JC, 2014, 'Genomic mapping of the MHC transactivator CIITA using an integrated ChIP-seq and genetical genomics approach', Genome Biology, 15, pp. 494, http://dx.doi.org/10.1186/s13059-014-0494-z

Fairfax BP; Humburg P; Makino S; Naranbhai V; Wong D; Lau E; Jostins L; Plant K; Andrews R; McGee C; Knight JC, 2014, 'Innate immune activity conditions the effect of regulatory variants upon monocyte gene expression', Science, 343, http://dx.doi.org/10.1126/science.1246949

Ceroni F; Simpson NH; Francks C; Baird G; Conti-Ramsden G; Clark A; Bolton PF; Hennessy ER; Donnelly P; Bentley DR; Martin H; Parr J; Pagnamenta AT; Maestrini E; Bacchelli E; Fisher SE; Newbury DF, 2014, 'Homozygous microdeletion of exon 5 in ZNF277 in a girl with specific language impairment', European Journal of Human Genetics, 22, pp. 1165 - 1171, http://dx.doi.org/10.1038/ejhg.2014.4

Rimmer A; Phan H; Mathieson I; Iqbal Z; Twigg SRF; Wilkie AOM; McVean G; Lunter G, 2014, 'Integrating mapping-, assembly- and haplotype-based approaches for calling variants in clinical sequencing applications', Nature Genetics, 46, pp. 912 - 918, http://dx.doi.org/10.1038/ng.3036

Babbs C; Roberts NA; Sanchez-Pulido L; McGowan SJ; Ahmed MR; Brown JM; Sabry MA; Consortium W; 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

Palles C; Cazier JB; Howarth KM; Domingo E; Jones AM; Broderick P; Kemp Z; Spain SL; Almeida EG; Salguero I; Sherborne A; Chubb D; Carvajal-Carmona LG; Ma Y; Kaur K; Dobbins S; Barclay E; Gorman M; Martin L; Kovac MB; Humphray S; Lucassen A; Holmes CH; Bentley D; Donnelly P; Taylor J; Petridis C; Roylance R; Sawyer EJ; Kerr DJ; Clark S; Grimes J; Kearsey SE; Thomas HJW; McVean G; Houlston RS; Tomlinson I; Maher E; Evans G; Cummings C; Stevens M; Walker L; Halliday D; Armstrong R; Paterson J; Hodgson S; Homfray T; Side L; Izatt L; Donaldson A; Tomkins S; Morrison P; Goodman S; Brewer C; Henderson A; Davidson R; Murday V; Cook J; Haites N; Bishop T; Sheridan E; Green A; Marks C; Carpenter S; Broughton M; Greenhalge L; Suri M; Bell J; Ratcliffe P; Wilkie A; Broxholme J; Buck D; Cornall R; Gregory L; Knight J; Lunter G; Kingsbury Z; Grocock R; Hatton E; Holmes CC; Hughes L; Humburg P; Kanapin A; Murray L; Rimmer A, 2013, 'Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas', Nature Genetics, 45, pp. 136 - 143, http://dx.doi.org/10.1038/ng.2503

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; consortium W; Donnelly P; Bentley D; McGowan SJ; Müller J; Palace J; Lochmüller 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

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

HOFFMANN B; HUMBURG P; MARTIN RP, 1968, 'ISOLATION OF CRYSTALLINE NICOTINAMIDE FROM BOVINE BLOOD', PROCEEDINGS OF THE SOCIETY FOR EXPERIMENTAL BIOLOGY AND MEDICINE, 128, pp. 967 - &

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