By Dr Peter Humburg

Journal articles

Chang WJ; Humburg P; Jenkins LC; Buscemi V; Gonalez-Alvarez ME; McAuley JH; Liston MB; Schabrun SM, 2024, 'Can assessment of human assumed central sensitisation improve the predictive accuracy of the STarT Back screening tool in acute low back pain?', Musculoskeletal Science and Practice, 74, http://dx.doi.org/10.1016/j.msksp.2024.103177

Moore J; van de Graaf VA; Wood JA; Humburg P; Colyn W; Bellemans J; Chen DB; Macdessi SJ, 2024, 'Windswept deformity of the knee: prevalence and predictive factors in osteoarthritic and healthy populations', Bone and Joint Open, 5, pp. 879 - 885, http://dx.doi.org/10.1302/2633-1462.510.BJO-2024-0128

Chang WJ; Jenkins LC; Humburg P; Schabrun SM, 2024, 'The Influence of Pain Hypersensitivity and Psychological Factors on Pain and Disability in the Transition From Acute to Chronic Low Back Pain: A Longitudinal Exploratory Investigation and Cluster Analysis', Journal of Pain, 25, http://dx.doi.org/10.1016/j.jpain.2024.104584

Kougious R; Humburg P; Delbaere K; van Schooten KS; Lung T, 2024, 'The relationship between pain, quality of life and physical activity in older community living Australians', Geriatric Nursing, 59, pp. 306 - 311, http://dx.doi.org/10.1016/j.gerinurse.2024.07.021

Jenkins LC; Chang WJ; Humburg P; Wasinger VC; Stone LS; Dorsey SG; Renn C; Starkweather A; Schabrun SM, 2024, 'Sex Differences in the Serum Proteomic Profile During Acute Low Back Pain—A Preliminary Study of the Relationship to Future Low Back Pain', Journal of Pain, 25, http://dx.doi.org/10.1016/j.jpain.2023.11.009

Chantanachai T; Sturnieks DL; Lord SR; Menant J; Delbaere K; Sachdev PS; Brodaty H; Humburg P; Taylor ME, 2024, 'Cognitive and physical declines and falls in older people with and without mild cognitive impairment: a 7-year longitudinal study', International Psychogeriatrics, 36, pp. 306 - 316, http://dx.doi.org/10.1017/S1041610223000315

Cao J; Ball IK; Summerell E; Humburg P; Denson T; Rae CD, 2024, 'Effect of Ethanol on Brain Electrical Tissue Conductivity in Social Drinkers', Journal of Magnetic Resonance Imaging, http://dx.doi.org/10.1002/jmri.29548

Bojanic T; McCaughey EJ; Finn HT; Humburg P; McBain RA; Lee BB; Gandevia SC; Boswell-Ruys CL; Butler JE, 2024, 'The effect of abdominal functional electrical stimulation on blood pressure in people with high level spinal cord injury', Spinal Cord, http://dx.doi.org/10.1038/s41393-024-01046-w

McCaughey EJ; Ho FK; Mackay DF; Pell JP; Humburg P; Purcell M, 2024, 'The impact of COVID-19 and associated lockdowns on traumatic spinal cord injury incidence: a population based study', Spinal Cord, 62, pp. 1 - 5, http://dx.doi.org/10.1038/s41393-023-00939-6

Xu Y; Aung HL; Bateman RJ; Brooks WS; Chhatwal J; Day GS; Fagan AM; Farlow MR; Gordon B; Kehoe PG; Levin J; Mori H; Morris JC; Wharton W; Humburg P; Schofield PR; Peters R, 2023, 'Higher systolic blood pressure in early-mid adulthood is associated with poorer cognitive performance in those with a dominantly inherited Alzheimer's disease mutation but not in non-carriers. Results from the DIAN study', Alzheimer's and Dementia, 19, pp. 4999 - 5009, http://dx.doi.org/10.1002/alz.13082

Bryant D; Smith L; Rogers-Broadway KR; Karydis L; Woo J; Blunt MD; Forconi F; Stevenson FK; Goodnow C; Russell A; Humburg P; Packham G; Steele AJ; Strefford JC, 2023, 'Network analysis reveals a major role for 14q32 cluster miRNAs in determining transcriptional differences between IGHV-mutated and unmutated CLL', Leukemia, 37, pp. 1454 - 1463, http://dx.doi.org/10.1038/s41375-023-01918-9

Cao J; Ball I; Humburg P; Dokos S; Rae C, 2023, 'Repeatability of brain phase-based magnetic resonance electric properties tomography methods and effect of compressed SENSE and RF shimming', Physical and Engineering Sciences in Medicine, 46, pp. 753 - 766, http://dx.doi.org/10.1007/s13246-023-01248-1

Chang WJ; Jenkins LC; Humburg P; Wasinger V; Walton DM; Schabrun SM, 2023, 'Systemic pro- and anti-inflammatory profiles in acute non-specific low back pain: An exploratory longitudinal study of the relationship to six-month outcome', PLoS ONE, 18, http://dx.doi.org/10.1371/journal.pone.0287192

Chang WJ; Jenkins LC; Humburg P; Schabrun SM, 2023, 'Human assumed central sensitization in people with acute non-specific low back pain: A cross-sectional study of the association with brain-derived neurotrophic factor, clinical, psychological and demographic factors', European Journal of Pain (United Kingdom), 27, pp. 530 - 545, http://dx.doi.org/10.1002/ejp.2078

Jenkins LC; Chang WJ; Buscemi V; Liston M; Humburg P; Nicholas M; Graven-Nielsen T; Hodges PW; McAuley JH; Schabrun SM, 2023, 'Cortical function and sensorimotor plasticity are prognostic factors associated with future low back pain after an acute episode: The Understanding persistent Pain Where it ResiDes prospective cohort study', Pain, 164, pp. 14 - 26, http://dx.doi.org/10.1097/j.pain.0000000000002684

Peters R; Xu Y; Fitzgerald O; Aung HL; Beckett NS; Bulpitt CJ; Chalmers J; Forette F; Gong J; Harris K; Humburg P; Matthews FE; Staessen J; Thijs L; Tzourio C; Warwick J; Woodward M; Anderson CS, 2022, 'Blood pressure lowering and prevention of dementia: an individual patient data meta-analysis', European Heart Journal, 43, pp. 4980 - 4990, http://dx.doi.org/10.1093/eurheartj/ehac584

Jugé L; Knapman FL; Humburg P; Burke PGR; Lowth AB; Brown E; Butler JE; Eckert DJ; Ngiam J; Sutherland K; Cistulli PA; Bilston LE, 2022, 'The relationship between mandibular advancement, tongue movement, and treatment outcome in obstructive sleep apnea', Sleep, 45, pp. zsac044, http://dx.doi.org/10.1093/sleep/zsac044

Colliver Y; Brown JE; Harrison LJ; Humburg P, 2022, 'Free play predicts self-regulation years later: Longitudinal evidence from a large Australian sample of toddlers and preschoolers', Early Childhood Research Quarterly, 59, pp. 148 - 161, http://dx.doi.org/10.1016/j.ecresq.2021.11.011

Fagerlind H; Harvey L; Humburg P; Davidsson J; Brown J, 2022, 'Identifying individual-based injury patterns in multi-trauma road users by using an association rule mining method', Accident Analysis and Prevention, 164, http://dx.doi.org/10.1016/j.aap.2021.106479

McCaughey EJ; Humburg P; McLachlan AJ, 2021, 'Dealing with deaths in clinical trials and meta-analyses', Respiratory Care, 66, pp. 1503, http://dx.doi.org/10.4187/respcare.09272

Gill D; Warburton W; Sweller N; Beath K; Humburg P, 2021, 'The Emotional Dysregulation Questionnaire: Development and comparative analysis', Psychology and Psychotherapy: Theory, Research and Practice, 94, pp. 426 - 463, http://dx.doi.org/10.1111/papt.12283

Reis M; McMahon CM; Távora-Vieira D; Humburg P; Boisvert I, 2021, 'Effectiveness of Computer-Based Auditory Training for Adult Cochlear Implant Users: A Randomized Crossover Study', Trends in Hearing, 25, http://dx.doi.org/10.1177/23312165211025938

Sharma M; Purdy SC; Humburg P, 2019, 'Cluster Analyses Reveals Subgroups of Children With Suspected Auditory Processing Disorders', Frontiers in Psychology, 10, http://dx.doi.org/10.3389/fpsyg.2019.02481

Lee W; Plant K; Humburg P; Knight JC, 2018, 'AltHapAlignR: Improved accuracy of RNA-seq analyses through the use of alternative haplotypes', Bioinformatics, 34, pp. 2401 - 2408, http://dx.doi.org/10.1093/bioinformatics/bty125

Schwerd T; Bryant RV; Pandey S; Capitani M; Meran L; Cazier JB; Jung J; Mondal K; Parkes M; Mathew CG; Fiedler K; McCarthy DJ; Sullivan PB; Rodrigues A; Travis SPL; Moore C; Sambrook J; Ouwehand WH; Roberts DJ; Danesh J; Russell RK; Wilson DC; Kelsen JR; Cornall R; Denson LA; Kugathasan S; Knaus UG; Serra EG; Anderson CA; Duerr RH; McGovern DPB; Cho J; Powrie F; Li VSW; Muise AM; Uhlig HH; Donnelly P; Bell J; Bentley D; McVean G; Ratcliffe P; Taylor J; Wilkie AOM; Broxholme J; Buck D; 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; Polanco G; Trebes A; Copley R; Fiddy S; Grocock R; Hatton E; Holmes C; Hughes L; Humburg P; Kanapin A; Lise S; Martin H; Murray L; Rimmer A; Sahgal N; Wright B; Yau C; Arancibia C; Bailey A; Barnes E; Bird-Lieberman B; Brain O; Braden B; Collier J; East J; Geremia A; Howarth L; Keshav S; Klenerman P; Leedham S; Palmer R; Rodrigues A; Heuschkel R; Zilbauer M; Auth MKH; Shah N; Kammermeier J; Croft N; Barakat F, 2018, 'NOX1 loss-of-function genetic variants in patients with inflammatory bowel disease', Mucosal Immunology, 11, pp. 562 - 574, http://dx.doi.org/10.1038/mi.2017.74

Burnham KL; Davenport EE; Radhakrishnan J; Humburg P; Gordon AC; Hutton P; Svoren-Jabalera E; Garrard C; Hill AVS; Hinds CJ; Knight JC, 2017, 'Shared and distinct aspects of the sepsis transcriptomic response to fecal peritonitis and pneumonia', American Journal of Respiratory and Critical Care Medicine, 196, pp. 328 - 339, http://dx.doi.org/10.1164/rccm.201608-1685OC

Neville MJ; Lee W; Humburg P; Wong D; Barnardo M; Karpe F; Knight JC, 2017, 'High resolution HLA haplotyping by imputation for a British population bioresource', Human Immunology, 78, pp. 242 - 251, http://dx.doi.org/10.1016/j.humimm.2017.01.006

Wang JQ; Jeelall YS; Humburg P; Batchelor EL; Kaya SM; Yoo HM; Goodnow CC; Horikawa K, 2017, 'Synergistic cooperation and crosstalk between MYD88^L265P and mutations that dysregulate CD79B and surface IgM', Journal of Experimental Medicine, 214, pp. 2759 - 2776, http://dx.doi.org/10.1084/jem.20161454

Sabouri Z; Perotti S; Spierings E; Humburg P; Yabas M; Bergmann H; Horikawa K; Roots C; Lambe S; Young C; Andrews TD; Field M; Enders A; Reed JH; Goodnow CC, 2016, 'IgD attenuates the IgM-induced anergy response in transitional and mature B cells', Nature Communications, 7, http://dx.doi.org/10.1038/ncomms13381

Humburg P; Maugeri N; Lee W; Mohr B; Knight JC, 2016, 'Characterisation of the global transcriptional response to heat shock and the impact of individual genetic variation', Genome Medicine, 8, http://dx.doi.org/10.1186/s13073-016-0345-5

Davenport EE; Burnham KL; Radhakrishnan J; Humburg P; Hutton P; Mills TC; Rautanen A; Gordon AC; Garrard C; Hill AVS; Hinds CJ; Knight JC, 2016, 'Genomic landscape of the individual host response and outcomes in sepsis: A prospective cohort study', The Lancet Respiratory Medicine, 4, pp. 259 - 271, http://dx.doi.org/10.1016/S2213-2600(16)00046-1

van Schouwenburg PA; Davenport EE; Kienzler A-K; Marwah I; Wright B; Lucas M; Malinauskas T; Martin HC; Lockstone HE; Cazier J-B; Chapel HM; Knight JC; Patel SY, 2015, 'Application of whole genome and RNA sequencing to investigate the genomic landscape of common variable immunodeficiency disorders', CLINICAL IMMUNOLOGY, 160, pp. 301 - 314, http://dx.doi.org/10.1016/j.clim.2015.05.020

Twigg SRF; Forecki J; Goos JAC; Richardson ICA; Hoogeboom AJM; van den Ouweland AMW; Swagemakers SMA; Lequin MH; Van Antwerp D; McGowan SJ; Westbury I; Miller KA; Wall SA; van der Spek PJ; Mathijssen IMJ; Pauws E; Merzdorf CS; Wilkie AOM, 2015, 'Gain-of-Function Mutations in ZIC1 Are Associated with Coronal Craniosynostosis and Learning Disability', AMERICAN JOURNAL OF HUMAN GENETICS, 97, pp. 378 - 388, http://dx.doi.org/10.1016/j.ajhg.2015.07.007

Naranbhai V; Fairfax BP; Makino S; Humburg P; Wong D; Ng E; Hill AVS; Knight JC, 2015, 'Genomic modulators of gene expression in human neutrophils', Nature Communications, 6, http://dx.doi.org/10.1038/ncomms8545

Taylor JC; Martin HC; Lise S; Broxholme J; Cazier JB; Rimmer A; Kanapin A; Lunter G; Fiddy S; Allan C; Aricescu AR; Attar M; Babbs C; Becq J; Beeson D; Bento C; Bignell P; Blair E; Buckle VJ; Bull K; Cais O; Cario H; Chapel H; Copley RR; Cornall R; Craft J; Dahan K; Davenport EE; Dendrou C; Devuyst O; Fenwick AL; Flint J; Fugger L; Gilbert RD; Goriely A; Green A; Greger IH; Grocock R; Gruszczyk AV; Hastings R; Hatton E; Higgs D; Hill A; Holmes C; Howard M; Hughes L; Humburg P; Johnson D; Karpe F; Kingsbury Z; Kini U; Knight JC; Krohn J; Lamble S; Langman C; Lonie L; Luck J; McCarthy D; McGowan SJ; McMullin MF; Miller KA; Murray L; Németh AH; Nesbit MA; Nutt D; Ormondroyd E; Bang Oturai A; Pagnamenta A; Patel SY; Percy M; Petousi N; Piazza P; Piret SE; Polanco-Echeverry G; Popitsch N; Powrie F; Pugh C; Quek L; Robbins PA; Robson K; Russo A; Sahgal N; Van Schouwenburg PA; Schuh A; Silverman E; Simmons A; Sorensen PS; Sweeney E; Taylor J; Thakker RV; Tomlinson I; Trebes A; Twigg SRF; Uhlig HH; Vyas P; Vyse T; Wall SA; Watkins H; Whyte MP; Witty L, 2015, 'Factors influencing success of clinical genome sequencing across a broad spectrum of disorders', Nature Genetics, 47, pp. 717 - 726, http://dx.doi.org/10.1038/ng.3304

Taylor JC; Martin HC; Lise S; Broxholme J; Cazier J-B; Rimmer A; Kanapin A; Lunter G; Fiddy S; Allan C; Aricescu AR; Attar M; Babbs C; Becq J; Beeson D; Bento C; Bignell P; Blair E; Buckle VJ; Bull K; Cais O; Cario H; Chapel H; Copley RR; Cornall R; Craft J; Dahan K; Davenport EE; Dendrou C; Devuyst O; Fenwick AL; Flint J; Fugger L; Gilbert RD; Goriely A; Green A; Greger IH; Grocock R; Gruszczyk AV; Hastings R; Hatton E; Higgs D; Hill A; Holmes C; Howard M; Hughes L; Humburg P; Johnson D; Karpe F; Kingsbury Z; Kini U; Knight JC; Krohn J; Lamble S; Langman C; Lonie L; Luck J; McCarthy D; McGowan SJ; McMullin MF; Miller KA; Murray L; Németh AH; Nesbit MA; Nutt D; Ormondroyd E; Oturai AB; Pagnamenta A; Patel SY; Percy M; Petousi N; Piazza P; Piret SE; Polanco-Echeverry G; Popitsch N; Powrie F; Pugh C; Quek L; Robbins PA; Robson K; Russo A; Sahgal N; van Schouwenburg PA; Schuh A; Silverman E; Simmons A; Sørensen PS; Sweeney E; Taylor J; Thakker RV; Tomlinson I; Trebes A; Twigg SRF; Uhlig HH; Vyas P; Vyse T; Wall SA; Watkins H; Whyte MP; Witty L; Wright B; Yau C; Buck D; Humphray S; Ratcliffe PJ; Bell JI; Wilkie AOM; Bentley D; Donnelly P; McVean G, 2015, 'Factors influencing success of clinical genome sequencing across a broad spectrum of disorders', Nature Genetics, http://dx.doi.org/10.1038/ng.3304

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

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

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; 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

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

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

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

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

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

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