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83) CM. Watson, LA. Crinnion, S M. Harrison, C Lascelles, A Antanaviciute, IM. Carr, DT. Bonthron, E Sheridan. A Chromosome 7 Pericentric Inversion Defined at Single-Nucleotide Resolution Using Diagnostic Whole Genome Sequencing in a Patient with Hand-Foot-Genital Syndrome. PLOS One. 2016 June 7,

82) Karamendin K, Kydyrmanov A, Seidalina A, Asanova S, Sayatov M, Kasymbekov E, Khan E, Daulbayeva K, Harrison SM, Carr IM, Goodman SJ, Zhumatov K. Complete Genome Sequence of a Novel Avian Paramyxovirus (APMV-13) Isolated from a Wild Bird in Kazakhstan. Genome Announc. 2016 May 19;4(3). pii: e00167-16.

81)  Kotan LD, Cooper C, Darcan, Carr IM, Özen S, Yan Y, Hamedani MK, Gürbüz F, Mengen E, Turan İ, Ulubay A, Akkuş G, Yüksel B, Topaloğlu AK, Leygue E. Idiopathic Hypogonadotrophic Hypogonadism Caused by Inactivating Mutations in SRA1. J Clin Res Pediatr Endocrinol. 2016 Apr 18.

80)  Diggle CP, Sukoff Rizzo SJ, Popiolek M, Hinttala R, Schülke JP, Kurian MA, Carr IM, Markham AF, Bonthron DT, Watson C, Sharif SM, Reinhart V, James LC, Vanase-Frawley MA, Charych E, Allen M, Harms J, Schmidt CJ, Ng J, Pysden K, Strick C, Vieira P, Mankinen K, Kokkonen H, Kallioinen M, Sormunen R, Rinne JO, Johansson J, Alakurtti K, Huilaja L, Hurskainen T, Tasanen K, Anttila E, Marques TR, Howes O, Politis M, Fahiminiya S, Nguyen KQ, Majewski J, Uusimaa J, Sheridan E, Brandon NJ. Biallelic Mutations in PDE10A Lead to Loss of Striatal PDE10A and a Hyperkinetic Movement Disorder with Onset in Infancy. Am J Hum Genet. 2016 Apr 7;98(4):735-743.

79)  Melnik S, Caudron-Herger M, Brant L, Carr IM, Rippe K, Cook PR, Papantonis A. Isolation of the protein and RNA content of active sites of transcription in mammalian cells Nature Protocols 2016 Mar;11(3):553-65.

78)  Watson CM, Crinnion LA, Berry IR, Harrison SM, Lascelles C, Antanaviciute A, Charlton RS, Dobbie A, Carr IM, Bonthron DT Enhanced diagnostic yield in Meckel-Gruber and Joubert syndrome through exome sequencing supplemented with split-read mapping BMC Medical Genetics 2016 Jan 4;17(1):1.

77)  Christopher Watson C, Laura Crinnion LA, Murphy H, Newbould M, Fairweather S, Lascelles C, Antanaviciute A, Carr IM, Sheridan E, Bonthron DT, Smith A Deficiency of the myogenic factor MyoD causes a perinatally lethal fetal akinesia J Med Genet 2016 Apr;53(4):264-9.


76)  Hollstein R, Parry DA, Nalbach L, Logan CV, Strom TM, Hartill VL, Carr IM, Korenke GC, Uppal S, Ahmed M, Wieland T, Markham AF, Bennett CP, Gillessen-Kaesbach G, Sheridan EG, Kaiser FJ, Bonthron DT. HACE1 deficiency causes an autosomal recessive neurodevelopmental syndrome. J Med Genet. 2015 Dec;52(12):797-803

75)  Antanaviciute A, Watson CM, Harrison SM, Lascelles C, Crinnion L, Markham AF, Bonthron DT, Carr IM. OVA: integrating molecular and physical phenotype data from multiple biomedical domain ontologies with variant filtering for enhanced variant prioritization. Bioinformatics. 2015 Aug 12. pii: btv473.

74)  Poulter JA, Smith CEL, Murillo G, Silva S, Brookes S, Kirkham J, Crinnion LA, Carr IM, Watson CM, Inglehearn CF, and Mighell AJ. A distinctive oral phenotype points to FAM20A mutations not identified by Sanger sequencing. Molecular Genetics & Genomic Medicine Accepted June 2015.

73)  Giancane G, Diggle CP, Legger E, Tekstra J, Prakken B, Brenkman AB, Carr IM, Markham AF, Bonthron DT, Wulffraat N. Primary Hypertrophic Osteoarthropathy: an update on patient features and treatment. Journal of Rheumatology 2015 Nov;42(11):2211-4.

72)  Watson CM, Crinnion LA, Gurgel-Gianetti J, Harrison SM, Daly C, Antanavicuite A, Lascelles C, Markham AF, Pena SDJ, Bonthron DT, Carr IM. Rapid detection of rare deleterious variants by next generation sequencing with optional microarray SNP genotype data. Hum Mutat 2015 Sep;36(9):823-30.

71)  El-Asrag ME, Sergouniotis PI, McKibbin M, Plagnol V, Sheridan E, Waseem N, Abdelhamed Z, McKeefry D, Van Schil K, Poulter JA; UK Inherited Retinal Disease Consortium, Johnson CA, Carr IM, Leroy BP, De Baere E, Inglehearn CF, Webster AR, Toomes C, Ali M. Biallelic Mutations in the Autophagy Regulator DRAM2 Cause Retinal Dystrophy with Early Macular Involvement. Am J Hum Genet. 2015 May 12. pii: S0002-9297(15)00143-3.

70)  Antanaviciute A, Daly C, Crinnion LA, Markham AF, Watson CM, Bonthron DT, Carr IM. GeneTIER: prioritization of candidate disease genes using tissue-specific gene expression profiles. Bioinformatics. 2015 Aug 15;31(16):2728-35.

69)  Fiszer D, Shaw MA, Fisher NA, Carr IM, Gupta PK, Watkins EJ, Roiz de Sa D, Kim JH, Hopkins PM. Next-generation Sequencing of RYR1 and CACNA1S in Malignant Hyperthermia and Exertional Heat Illness. Anesthesiology. 2015 May;122(5):1033-46.


68)  Diggle CP, Moore DJ, Mali G, Zur Lage P, Ait-Lounis A, Schmidts M, Shoemark A, Garcia Munoz A, Halachev MR, Gautier P, Yeyati PL, Bonthron DT, Carr IM, Hayward B, Markham AF, Hope JE, von Kriegsheim A, Mitchison HM, Jackson IJ, Durand B, Reith W, Sheridan E, Jarman AP, Mill P. HEATR2 Plays a Conserved Role in Assembly of the Ciliary Motile Apparatus. PLoS Genet. 2014 Sep 18;10(9):e1004577

67)  Hjeij R, Onoufriadis A, Watson CM, Slagle CE, KlenaNT, Dougherty GW, Kurkowiak M, Loges NT, Diggle CP, Morante NFC, Gabriel GC, Lemke KL, Li Y, Pennekamp P, Menchen T, Konert F, Marthin JM, Mans DA, Letteboer SJF, Werner C, Burgoyne T, Westermann C, Rutman A, Carr IM, O’Callaghan C, Moya E, Chung EMK, UK10K Consortium, Sheridan E, Nielsen KG, Roepman R, Bartscherer K, Burdine RD, Lo CW, Omran H, Mitchison HM. CCDC151 Mutations Cause Primary Ciliary Dyskinesia by Disruption of the Outer Dynein Arm Docking Complex Formation. AJHG, 2014 Sep 4;95, Issue 3, p257–274

66)  Watson CM, El-Asrag M, Parry DA, Morgan JE, Logan CV, Carr IM, Sheridan E, Charlton R, Johnson CA, Taylor G, Toomes C, McKibbin M, Inglehearn CF, Ali M. Mutation Screening of Retinal Dystrophy Patients by Targeted Capture from Tagged Pooled DNAs and Next Generation Sequencing. PLoS One. 2014 Aug 18;9(8):e104281. doi: 10.1371/journal.pone.0104281. eCollection 2014.

65)  Sutton KM, Crinnion LA, Wallace D, Harrison S, Roberts p, Watson CM, Markham AF, Bonthron DT, Quirke P, Carr IM. Detection of somatic mutations in tumors using unaligned clonal sequencing data. Laboratory Investigations 2014 Oct;94(10):1173-83

64)  Watson CM, Crinnion LA, Tzika A, Mills A, Coates A, Pendlebury M, Hewitt S, Harrison SM, Daly C, Roberts P, Carr IM, Sheridan EG, Bonthron DT. Diagnostic whole genome sequencing and split-read mapping for nucleotide resolution breakpoint identification in CNTNAP2 deficiency syndrome. Am J Med Genet A. 2014 Oct;164A(10):2649-55

63)  Watson CM, Crinnion LA, Harrison SM, Morgan JE, Diggle CP, Adlard J, Lindsay HA, Camm N, Charlton R, Sheridan E, Bonthron DT, Taylor GR, Carr IM. Robust diagnostic genetic testing using solution capture enrichment and a novel variant filtering interface. Hum Mutat. 2014 Apr;35(4):434-41.


62)  Touqan N, Diggle CP, Verghese E, Perry S, Horgan K, Merchant W, Anwar R, Markham AF, Carr IM, Achuthan R. An observational study on the expression levels of MDM2 and MDMX proteins, and associated effects on P53 in a series of human liposarcomas. BMC Clinical Pathology, 2013 Dec 13;13(1):32.

61)  Al-Araimi M, Pal B, Poulter JA, van Genderen MM, Carr IM, Cudrnak T, Brown L, Sheridan E, Mohamed MD, Bradbury J, Ali M, Inglehearn CF, Toomes C. A new recessively inherited disorder composed of foveal hypoplasia, optic nerve decussation defects and anterior segment dysgenesis maps to chromosome 16q23.3-24.1. Mol Vis. 2013 Nov 1;19:2165-72.

60)  Ingram Nicola, Macnab A Stuart, Marston Gemma, Scott Nigel, Carr M Ian, Markham F Alexander, Whitehouse Adrian, Coletta P Louise, The use of high-frequency ultrasound imaging and biofluorescence for in vivo evaluation of gene therapy vectors. BMC Medical Imaging 2013 Nov 12;13:35.

59)  Poulter JA, Al-Araimi M, Conte I, Van Genderen MA, Sheridan E, Carr IM, Parry DA, Shires M, Carrella S, Bradbury J, Khan K, Lakeman P, Sergouniotis PI, Webster AR, Moore AT, Pal B, Mohamed MD, Venkataramana A, Ramprasad V, Shetty R, Saktivel M, Kumaramanickavel G, Tan A, Mackey DA, Hewitt AW, Banfi S, Inglehearn CF, Toomes C. Recessive mutations in SLC38A8 cause foveal hypoplasia and optic nerve misrouting without albinism. American Journal of Human Genetics. 2013 Dec 5;93(6):1143-50.

58)  Crabtree J, Jeremy A, Duval C, Dixon M, Danjo K, Carr IM, Crabtree J, Jeremy A, Duval C, Dixon M, Danjo K, Effects of EGFR inhibitor on Helicobacter pylori induced gastric epithelial pathology in vivo. Pathogens . 2013, 2(4), 571-590

57)  Carr IM, Morgan J, Watson C, Melnik S. Diggle CP, Logan CV, Harrison SM, Taylor GR, Pena SDJ, Markham AF, Alkuraya FS, Black GCM, Ali M, Bonthron DT. Simple and efficient identification of rare recessive pathologically important sequence variants from next generation exome sequence data. Hum Mutat. 2013 Jul;34(7):945-52.

56)  Ingham D, Diggle CP, Berry I, Bristow CA, Hayward BE, Rahman N, Markham AF, Sheridan EG, Bonthron DT, Carr IM. Simple detection of germline microsatellite instability for diagnosis of constitutional mismatch repair cancer syndrome Hum Mutat. 2013 Jun;34(6):847-52.

55)  Carr IM, Bhaskar S, O’ Sullivan J, Aldhamesh MA, Shamseldin HE, Markham AF, Bonthron DT, Black G, Alkuraya FS. Autozygosity mapping with exome sequence data Hum Mutat. 2013 Jan;34(1):50-6.

54)  Chambers PA, Stead LF, Morgan JE, Carr IM, Sutton KM, Watson CM, Crowe V, Dickinson H, Roberts P, Mulatero C, Seymour M, Markham AF, Waring PM, Quirke P, Taylor GR. Mutation detection by clonal sequencing of PCR amplicons and grouped read typing is applicable to clinical diagnostics. Hum Mutat. 2013 Jan;34(1):248-54.


53)  Parry DA, Brookes SJ, Logan CV, Poulter JA, El-Sayed W, Al-Bahlani S, Al Harasi S, Sayed J, Raïf EM, Shore RC, Dashash M, Barron M, Morgan JE, Carr IM, Taylor GR, Johnson CA, Aldred MJ, Dixon MJ, Wright JT, Kirkham J, Inglehearn CF, Mighell AJ. Mutations in C4orf26, Encoding a Peptide with In Vitro Hydroxyapatite Crystal Nucleation and Growth Activity, Cause Amelogenesis Imperfecta. Am J Hum Genet. 2012 Sep 7;91(3):565-71.

52)  Carr IM, P Diggle CP, Khan K, Inglehearn C, McKibbin M, Bonthron DT, Markham AF, Anwar R, Dobbie A, Pena SDJ, Ali M. Rapid visualisation of microarray copy number data for the detection of structural variations linked to a disease phenotype. PLoS ONE, 2012;7(8):e43466. Epub 2012 Aug 17.

51)  Diggle CP, Parry DA, Logan CV, Laissue P, Rivera C, Restrepo CM, Fonseca DJ, Morgan JE, Allanore Y, Fontenay M, Wipff J, Varret M, Gibault L, Dalantaeva N, Korbonits M, Zhou B, Yuan G, Harifi G, Cefle K, Palanduz S, Akoglu H, Zwijnenburg PJ, Lichtenbelt KD, Aubry-Rozier B, Superti-Furga A, Dallapiccola B, Accadia M, Brancati F, Sheridan EG, Taylor GR, Carr IM, Johnson CA, Markham AF, Bonthron DT. Prostaglandin transporter mutations cause pachydermoperiostosis with myelofibrosis. Hum Mutat. 2012 Aug;33(8):1175-81

50)  Poulter J, Davidson AE, Ali M, Gilmour DF, Parry D, Mintz-Hittner HA, Carr I(M), Bottomley HM, Long V, Downey LM, Sergouniotis PI, Wright GA, Maclaren RE, Moore AT, Webster AR, Inglehearn CF, Toomes C. Recessive mutations in TSPAN12 cause retinal dysplasia and severe familial exudative vitreoretinopathy (FEVR) Invest Ophthalmol Vis Sci. 2012 May 14;53(6):2873-2879.

49)  Robinson JI, Carr IM, Cooper DL, Rashid LH, Martin SG, Emery P, Isaacs JD, Barton A, Wilson AG, Barrett JH, Morgan A. Confirmation of association of FCGR3B but not FCGR3A copy number with susceptibility to autoantibody positive rheumatoid arthritis. Hum Mutat. 2012 Apr;33(4):741-9.

48)  Khan K, Logan CV, McKibbin M, Sheridan E, Elçioglu NH, Yenice O, Parry DA, Fernandez-Fuentes N, Al-Maskari A, Poulter JA, Mohamed MD, Carr IM, Morgan JE, Jafri H, Raashid Y, Taylor GR, Johnson CA, Inglehearn CF, Toomes C, Ali M. Next generation sequencing identifies mutations in Atonal homolog 7 (ATOH7) in families with global eye developmental defects. Human Molecular Genetics 2012 feb 15;21(4):776-83.

47)  Carr IM, Diggle CP, Touqan N, Anwar R, Sheridan EG, Bonthron DT, Johnson CA, Ali M, Markham AF. Identification of autosomal recessive disease loci using out-bred nuclear families. Hum Mutat. 2012 Feb;33(2):338-42


46)  Logan CV, Lucke b, Pottinger C, Abdelhamed ZA, Parry DA, Szymanska K, Diggle CP, Riesen A, Morgan JE, Markham G, Ellis I, Manzur AY, Markham AF, Shires M, Helliwell T, Scoto M, Hübner C, Bonthron DT, Taylor GR, Sheridan E, Muntoni F, Carr IM, Schuelke M, Johnson CA. Mutations in MEGF10, a regulator of satellite cell myogenesis, cause early-onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD) Nature Genetics. 2011 Nov 20;43(12):1189-92

45)  Melnik S, Deng B, Papantonis A, Baboo S, Carr IM, Cook PR. The proteomes of transcription factories containing RNA polymerases I, II, or III. Nature Methods. 2011 Sep 25;8(11):963-8.

44)  Carr IM, Johnson CA, Markham AF, Tomes C, Bonthron DT, Sheridan EG. DominantMapper: Rule-based analysis of SNP data for rapid mapping of dominant diseases in related nuclear families. Hum Mutat. 2011 Dec;32(12):1359-66.

43)  Carr IM, Markham AF, Pena SDJ. Estimating the degree of identity by descent in consanguineous couples. Hum Mutat. 2011 Dec;32(12):1350-8.

42)  Khan K, Rudkin A, Parry DA, Burdon KP, McKibbin M, Logan CV, Abdelhamed ZIA, Muecke JS, Fernandez-Fuentes N, Laurie KJ, Shires M, Fogarty R, Carr IM, Poulter JA, Morgan JE, Mohamed MD, Jafri H, Raashid Y, Meng N, Piseth H, Toomes C, Casson RJ, Taylor GR, Hammerton M, Sheridan E, Johnson CA, Inglehearn CF, Craig JE, Ali M. Homozygous Mutations in PXDN Cause Congenital Cataract, Corneal Opacity, and Developmental Glaucoma American Journal of Human Genetics. 2011 Sep 9;89(3):464-73.

41)  Parry DA, Logan CV, Hayward BE, Shires M, Landolsi H, Diggle C, Carr I(M), Rittore C, Touitou I, Philibert L, Fisher RA, Fallahian M, Huntriss JD, Picton HM, Malik S, Taylor GR, Johnson CA, Bonthron DT, Sheridan EG. Mutations Causing Familial Biparental Hydatidiform Mole Implicate C6orf221 as a Possible Regulator of Genomic Imprinting in the Human Oocyte. American Journal of Human Genetics. 2011 Sep 9;89(3):451-8.

40)  Macnab SA, Turrel SJ, Carr IM, Markham AF, Coletta PL, Whitehouse A. Herpesvirus saimiri-mediated delivery of the adenomatous polyposis coli tumour suppressor gene reduces proliferation of colorectal cancer cells. Int J Oncol. 2011 Nov;39(5):1173-81.

39)  Carr IM, Morgan JE, Diggle CP, Sheridan EG, Markham AF, Logan CV, Inglehearn CF, Taylor GR, Bonthron DT. Illuminator, a desktop program for mutation detection using short-read clonal sequencing. Genomics 2011 Oct;98(4):302-9.

38)  Khan K, Al-Maskari A, McKibbin M, Carr IM, Booth A, Mohamed M, Siddiqui S, Poulter JA, Parry DA, Logan CV, Hashmi A, Sahi T, Jafri H, Raashid Y, Johnson CA, Markham AF, Toomes C, Rice A, Sheridan E, Inglehearn CF, Ali M. Genetic Heterogeneity for Recessively-Inherited Congenital Cataract-Microcornea with Corneal Opacity. Invest Ophthalmol Vis Sci. 2011 Jun 16;52(7):4294-9.

37)  Dimitriou R, Carr I(M), West RM, Markham AF, Giannoudis PV. Genetic predisposition to fracture non-union: a case control study of a preliminary single nucleotide polymorphisms analysis of the BMP pathway. BMC Musculoskeletal Disorders 2011 Feb 10;12(1):44.

36)  Carr IM, Camm N, Taylor GR, Charlton R, Ellard S, Sheridan EG, Markham AF, Bonthron DT. GeneScreen: a program for high-throughput mutation detection in DNA sequence electropherograms Journal of Medical Genetics. 2011 Feb;48(2):123-30.

35)  Pardo C, Carr IM (joint first name author), Hoffman C, Darst R, Markham AF, Bonthron DT, Kladde M. MethylViewer: computational analysis and editing for bisulphite sequencing and Methyltransferase Accessibility Protocol for Individual Templates (MAPit) projects. Nucleic Acids Res. 2011 Jan 1;39(1):e5


34)  Diggle CP, Shires M, McRae C, Crellin D, Fisher J, Carr IM, A. Markham AF, Hayward BE, Asipu A, Bonthron, DT. Both isoforms of ketohexokinase are dispensable for normal growth and development Physiological Genomics. 2010 November 29;42A(4):235-43

33)  Diggle CP, Carr IM, Zitt E, Wusik K, Hopkin RJ, Prada CE, Calabrese O, Rittinger O, Punaro MG, Markham AF, Bonthron DT. Common and recurrent HPGD mutations in Caucasian individuals with primary hypertrophic osteoarthropathy Rheumatology 2010 Jun 49(6):1056-62.

32)  Valleley EM, Cordery SF, Carr IM, Maclennan KA, Bonthron DT. Loss of expression of ZAC/PLAGL1 in diffuse large B-cell lymphoma is independent of promoter hypermethylation. Genes Chromosomes Cancer. 2010 May 49(5):480-6.

31)  Morgan JE, Carr IM, Sheridan E, Chu CE, Hayward B, Camm N, Lindsay HA, Mattocks CJ, Markham AF, Bonthron DT, Taylor GR. Genetic diagnosis of familial breast cancer using clonal sequencing. Hum Mutat. 2010 Apr 31(4):484-91.


30)  Carr IM, Robinson JI, Dimitriou R, Markham AF, Morgan AW, Bonthron DT. Inferring relative proportions of DNA variants from sequencing electropherograms Bioinformatics 2009 December 25:3244-3250

29)  Abdollahi MR, Morrison E, Sirey T, Molnar Z, Hayward BE, Carr IM, Springell K, Woods GC, Mushtaq Ahmed, Louise Hattingh, Peter Corry, Pilz DT, Stoodley N, Crow Y, Taylor GR, Bonthron DT, Sheridan E. Mutation of the Variant a-Tubulin TUBA8 Results in Polymicrogyria with Optic Nerve Hypoplasia American Journal of Human Genetics. 2009 November 85:737-744

28)  Carr IM, Szymanska K, Sheridan E, Markham AF, Bonthron DT, Johnson CA. Shadow autozygosity mapping by linkage exclusion (SAMPLE): a simple strategy to identify the genetic basis of lethal autosomal recessive disorders Hum Mutat. 2009 November; 30:1642-1649

27)  Diggle CP, Shires M, Leitch D, Brook D, Carr IM, Markham AF, Hayward BE, Asipu A, Bonthron DT. Ketohexokinase: expression and localization of the principal fructose-metabolising enzyme. Journal of Histochemistry & Cytochemistry. 2009 August; 57(8):763-74

26)  Rice GI, Bond J, Asipu A, Brunette RL, Manfield IW, Carr IM, Fuller JC, Jackson RM, Lamb T, Briggs TA, Ali M, Gornall H, Couthard LR, Aeby A, Attard-Montalto SP, Bertini E, Bodemer C, Brockmann K, Brueton LA, Corry PC, Desguerre I, Fazzi E, Cazorla AG, Gener B, Hamel BC, Heiberg A, Hunter M, van der Knaap MS, Kumar R, Lagae L, Landrieu PG, Lourenco CM, Marom D, McDermott MF, van der Merwe W, Orcesi S, Prendiville JS, Rasmussen M, Shalev SA, Soler DM, Shinawi M, Spiegel R, Tan TY, Vanderver A, Wakeling EL, Wassmer E, Whittaker E, Lebon P, Stetson DB, Bonthron DT, Crow YJ. Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response Nature Genetics. 2009 July; 41:829-832

25)  Carr IM, Sheridan E, Hayward BE, Markham AF, Bonthron DT. IBDfinder and SNPsetter: tools for pedigree-independent identification of autozygous regions in individuals with recessive inherited disease Hum Mutat. 2009 June; 30:960-7

24)  Parry DA, Mighell AJ, El-Sayed W, Shore RC, Jalili IK, Dollfus H, Bloch-Zupan A, Carlos R, Carr IM, Downey LM, Blain KM, Mansfield DC, Shahrabi M, Heidari M, Aref P, Abbasi M, Michaelides M, Moore AT, Kirkham J, Inglehearn CF. Mutations in CNNM4 cause Jalili syndrome, consisting of autosomal recessive cone-rod dystrophy and amelogenesis imperfecta American Journal of Human Genetics. 2009 Feb; 84: 266-273


23)  Uppal S, Diggle CP, Carr IM, Fishwick CWG, Ahmed M, Ibrahim GH, Helliwell PS, Latos-Bieleńska A, Phillips SEV, Markham AF, Bennett CP, Bonthron DT. Mutations in 15-hydroxyprostaglandin dehydrogenase cause primary hypertrophic osteoarthropathy Nature Genetics. 2008 May; 40:789-793

  • Editorial comment in Nature Genetics regarding "Mutations in 15-hydroxyprostaglandin dehydrogenase cause primary hypertrophic osteoarthropathy" Coggins GC, Coffman TM, Koller BH. The hippocratic finger points the blame at PGE2 Nature Genetics. 2008 May; 40:691-692


22)  Rice G, Patrick T, Parmar R, Taylor CF, Aeby A, Aicardi J, Artuch R, Montalto SA, Bacino CA, Barroso B, Baxter P, Benko WS, Bergmann C, Bertini E, Biancheri R, Blair EM, Blau N, Bonthron DT, Briggs T, Brueton LA, Brunner HG, Burke CJ, Carr IM, Carvalho DR, Chandler KE, Christen HJ, Corry PC, Cowan FM, Cox H, D'Arrigo S, Dean J, De Laet C, De Praeter C, Dery C, Ferrie CD, Flintoff K, Frints SG, Garcia-Cazorla A, Gener B, Goizet C, Goutieres F, Green AJ, Guet A, Hamel BC, Hayward BE, Heiberg A, Hennekam RC, Husson M, Jackson AP, Jayatunga R, Jiang YH, Kant SG, Kao A, King MD, Kingston HM, Klepper J, van der Knaap MS, Kornberg AJ, Kotzot D, Kratzer W, Lacombe D, Lagae L, Landrieu PG, Lanzi G, Leitch A, Lim MJ, Livingston JH, Lourenco CM, Lyall EG, Lynch SA, Lyons MJ, Marom D, McClure JP, McWilliam R, Melancon SB, Mewasingh LD, Moutard ML, Nischal KK, Ostergaard JR, Prendiville J, Rasmussen M, Rogers RC, Roland D, Rosser EM, Rostasy K, Roubertie A, Sanchis A, Schiffmann R, Scholl-Burgi S, Seal S, Shalev SA, Corcoles CS, Sinha GP, Soler D, Spiegel R, Stephenson JB, Tacke U, Tan TY, Till M, Tolmie JL, Tomlin P, Vagnarelli F, Valente EM, Van Coster RN, Van der Aa N, Vanderver A, Vles JS, Voit T, Wassmer E, Weschke B, Whiteford ML, Willemsen MA, Zankl A, Zuberi SM, Orcesi S, Fazzi E, Lebon P, Crow YJ. Clinical and molecular phenotype of Aicardi-Goutieres syndrome. Am J Hum Genet. 2007 Oct; 81(4):713-25.

21)  Carr IM, Valleley EM, Cordery SF, Markham AF, Bonthron DT. Sequence analysis and editing for bisulphite genomic sequencing projects. Nucleic Acids Res. May 2007;35(10):e79.


20)  Carr IM, Flintoff KJ, Taylor GR, Markham AF, Bonthron DT. Interactive visual analysis of SNP data for rapid autozygosity mapping in consanguineous families. Hum Mutat. 2006 Oct;27(10):1041-6.

19)  Dimitriou R, Tsiridis E, Carr IM, Simpson H, Giannoudis PV. The role of inhibitory molecules in fracture healing Injury 2006. Apr;37: Suppl 1:S20-9.


18)  Lynex CN, Carr IM, Leek JP, Achuthan R, Mitchell S, Maher ER, Woods CG, Bonthon DT, Markham AF. Homozygosity for a missense mutation in the 67 kDa isoform of glutamate decarboxylase in a family with autosomal recessive spastic cerebral palsy: parallels with Stiff-Person Syndrome and other movement disorders. BMC Neurol. 2004 Nov 30;4(1):20.


17)  FitzPatrick DR, Carr IM, McLaren L, Leek JP, Wightman P, Williamson K, Gautier P, McGill N, Hayward C, Firth H, Markham AF, Fantes JA, Bonthron DT. Identification of SATB2 as the cleft palate gene on 2q32-q33. Hum Mol Genet. 2003 Oct 1;12(19):2491-501.

16)  Rajgopal A, Carr IM, Leek JP, Hodge D, Bell SM, Roberts P, Horgan K, Bonthron DT, Selby PJ, Markham AF, MacLennan KA. Detection by fluorescence in situ hybridization of microdeletions at 1p36 in lymphomas, unidentified on cytogenetic analysis. Cancer Genet Cytogenet. 2003 Apr 1;142(1):46-50.


15)  Jackson AP, Eastwood H, Bell SM, Adu J, Toomes C, Carr IM, Roberts E, Hampshire DJ, Crow YJ, Mighell AJ, Karbani G, Jafri H, Rashid Y, Mueller RF, Markham AF, Woods CG. Identification of microcephalin, a protein implicated in determining the size of the human brain. Am J Hum Genet. 2002 Jul;71(1):136-42.

14)  Achuthan R, Bell SM, Carr IM, Leek JP, Roberts P, Horgan K, Markham AF, Selby PJ, MacLennan KA. BCL10 in malignant lymphomas--an evaluation using fluorescence in situ hybridization. J Pathol. 2002 Jan;196(1):59-66.


13)  Hall KT, Giles MS, Goodwin DJ, Calderwood MA, Carr IM, Stevenson AJ, Markham AF, Whitehouse A. Analysis of gene expression in a human cell line stably transduced with herpesvirus saimiri. J Virol. 2000 Aug;74(16):7331-7.

12)  Maraj BH, Leek JP, Carr IM, Markham AF. Identification of a novel microsatellite marker tightly linked to the KAI-1 gene for predicting prostate cancer progression. Eur Urol. 2000 Feb;37(2):228-33.


11)  Bell SM, Lam WK, Carr IM, Cartwright EJ, Pinchin K, Wedgwood S, Markham AF, Coletta PL. Assignment of the murine adenomatous polyposis coli 2 (Apc2) gene to mouse chromosome band 10B5-C2 by in situ hybridisation. Cytogenet Cell Genet. 1999;86(1):81-2.


10)  Carr IM, Whitehouse A, Coletta PL, Markham AF. Structural and evolutionary characterization of the human sorbitol dehydrogenase gene duplication. Mamm Genome. 1998 Dec;9(12):1042-8.


9)  Carr IM, Markham AF, Coletta PL. Identification and characterisation of a sequence related to human sorbitol dehydrogenase. Eur J Biochem. 1997 May 1;245(3):760-7.

8)  Whitehouse A, Carr IM, Griffiths JC, Meredith DM. The herpesvirus saimiri ORF50 gene, encoding a transcriptional activator homologous to the Epstein-Barr virus R protein, is transcribed from two distinct promoters of different temporal phases. J Virol. 1997 Mar;71(3):2550-4.

7)  Leek JP, Carr IM, Bell SM, Markham AF, Lench NJ. Assignment of the DNA fragmentation factor gene (DFFA) to human chromosome bands 1p36.3-->p36.2 by in situ hybridization. Cytogenet Cell Genet. 1997;79(3-4):212-3.


6)  Robinson PA, Leek JP, Carr IM, Bailey A, Lench NJ, Morrison J, Hume WJ, High AS, Markham AF. Yeast artificial chromosome cloning and chromosomal localization of the abundant odontogenic keratocyst protein elafin. Arch Oral Biol. 1996 May;41(5):445-52.


5)  Robinson PA, Leek JP, Thompson J, Carr IM, Bailey A, Moynihan TP, Coletta PL, Lench NJ, Markham AF. A human ubiquitin conjugating enzyme, L-UBC, maps in the Alzheimer's disease locus on chromosome 14q24.3. Mamm Genome. 1995 Oct;6(10):725-31.

4)  Carr IM, Markham AF. Molecular genetic analysis of the human sorbitol dehydrogenase gene. Mamm Genome. 1995 Sep;6(9):645-52.

3)  Leek J, Lench N, Maraj B, Bailey A, Carr IM, Andersen S, Cross J, Whelan P, MacLennan KA, Meredith DM. Prostate-specific membrane antigen: evidence for the existence of a second related human gene. Br J Cancer. 1995 Sep;72(3):583-8.

2)  Bailey A, Norris AL, Leek JP, Clissold PM, Carr IM, Ogilvie DJ, Morrison JF, Meredith DM, Markham AF. Yeast artificial chromosome cloning of the beta-catenin locus on human chromosome 3p21-22. Chromosome Res. 1995 May;3(3):201-3.


1)  Markham AF, Coletta PL, Robinson PA, Clissold P, Taylor GR, Carr IM, Meredith DM. Screening for cancer predisposition. Eur J Cancer. 1994;30A(13):2015-29.

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