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Cas9-based enrichment and single-molecule sequencing for precise characterization of genomic duplications.

Watson CM, Crinnion LA, Hewitt S, Bates J, Robinson R, Carr IM, Sheridan E, Adlard J, Bonthron DT.

Lab Invest. 2019 Jul 4. doi: 10.1038/s41374-019-0283-0. [Epub ahead of print]


RNAseq Supports the Molecular Genetic Diagnosis of Late-Onset ADA Deficiency.

Watson CM, Stockdale C, Berry I, Crinnion LA, Carr IM, Cant A, Bonthron DT, Savic S.

J Clin Immunol. 2019 Apr;39(3):270-273. doi: 10.1007/s10875-019-00625-4. Epub 2019 Apr 16. No abstract available.


Biallelic Mutations in LRRC56, Encoding a Protein Associated with Intraflagellar Transport, Cause Mucociliary Clearance and Laterality Defects.

Bonnefoy S, Watson CM, Kernohan KD, Lemos M, Hutchinson S, Poulter JA, Crinnion LA, Berry I, Simmonds J, Vasudevan P, O'Callaghan C, Hirst RA, Rutman A, Huang L, Hartley T, Grynspan D, Moya E, Li C, Carr IM, Bonthron DT, Leroux M; Care4Rare Canada Consortium, Boycott KM, Bastin P, Sheridan EG.

Am J Hum Genet. 2018 Nov 1;103(5):727-739. doi: 10.1016/j.ajhg.2018.10.003.


Induction of epigenetic variation in Arabidopsis by over-expression of DNA METHYLTRANSFERASE1 (MET1).

Brocklehurst S, Watson M, Carr IM, Out S, Heidmann I, Meyer P.

PLoS One. 2018 Feb 21;13(2):e0192170. doi: 10.1371/journal.pone.0192170. eCollection 2018.


Cantú syndrome with coexisting familial pituitary adenoma.

Marques P, Spencer R, Morrison PJ, Carr IM, Dang MN, Bonthron DT, Hunter S, Korbonits M.

Endocrine. 2018 Mar;59(3):677-684. doi: 10.1007/s12020-017-1497-9. Epub 2018 Jan 11.


Novel avian paramyxovirus isolated from gulls in Caspian seashore in Kazakhstan.

Karamendin K, Kydyrmanov A, Kasymbekov Y, Asanova S, Daulbayeva K, Seidalina A, Khan E, Harrison SM, Carr IM, Goodman SJ, Moldakozhayev A, Sayatov M.

PLoS One. 2017 Dec 28;12(12):e0190339. doi: 10.1371/journal.pone.0190339. eCollection 2017.


An analysis of IL-36 signature genes and individuals with IL1RL2 knockout mutations validates IL-36 as a psoriasis therapeutic target.

Mahil SK, Catapano M, Di Meglio P, Dand N, Ahlfors H, Carr IM, Smith CH, Trembath RC, Peakman M, Wright J, Ciccarelli FD, Barker JN, Capon F.

Sci Transl Med. 2017 Oct 11;9(411). pii: eaan2514. doi: 10.1126/scitranslmed.aan2514. Erratum in: Sci Transl Med. 2017 Dec 13;9(420):.


Increased Sensitivity of Diagnostic Mutation Detection by Re-analysis Incorporating Local Reassembly of Sequence Reads.

Watson CM, Camm N, Crinnion LA, Clokie S, Robinson RL, Adlard J, Charlton R, Markham AF, Carr IM, Bonthron DT.

Mol Diagn Ther. 2017 Dec;21(6):685-692. doi: 10.1007/s40291-017-0304-x.


Characterization and Genomic Localization of a SMAD4 Processed Pseudogene.

Watson CM, Camm N, Crinnion LA, Antanaviciute A, Adlard J, Markham AF, Carr IM, Charlton R, Bonthron DT.

J Mol Diagn. 2017 Nov;19(6):933-940. doi: 10.1016/j.jmoldx.2017.08.002. Epub 2017 Sep 1.


Paracrine cyclooxygenase-2 activity by macrophages drives colorectal adenoma progression in the Apc Min/+ mouse model of intestinal tumorigenesis.

Hull MA, Cuthbert RJ, Ko CWS, Scott DJ, Cartwright EJ, Hawcroft G, Perry SL, Ingram N, Carr IM, Markham AF, Bonifer C, Coletta PL.

Sci Rep. 2017 Jul 20;7(1):6074. doi: 10.1038/s41598-017-06253-5.


m6aViewer: software for the detection, analysis, and visualization of N6-methyladenosine peaks from m6A-seq/ME-RIP sequencing data.

Antanaviciute A, Baquero-Perez B, Watson CM, Harrison SM, Lascelles C, Crinnion L, Markham AF, Bonthron DT, Whitehouse A, Carr IM.

RNA. 2017 Oct;23(10):1493-1501. doi: 10.1261/rna.058206.116. Epub 2017 Jul 19.


A tubulin alpha 8 mouse knockout model indicates a likely role in spermatogenesis but not in brain development.

Diggle CP, Martinez-Garay I, Molnar Z, Brinkworth MH, White E, Fowler E, Hughes R, Hayward BE, Carr IM, Watson CM, Crinnion L, Asipu A, Woodman B, Coletta PL, Markham AF, Dear TN, Bonthron DT, Peckham M, Morrison EE, Sheridan E.

PLoS One. 2017 Apr 7;12(4):e0174264. doi: 10.1371/journal.pone.0174264. eCollection 2017.


A Chromosome 7 Pericentric Inversion Defined at Single-Nucleotide Resolution Using Diagnostic Whole Genome Sequencing in a Patient with Hand-Foot-Genital Syndrome.

Watson CM, Crinnion LA, Harrison SM, Lascelles C, Antanaviciute A, Carr IM, Bonthron DT, Sheridan E.

PLoS One. 2016 Jun 7;11(6):e0157075. doi: 10.1371/journal.pone.0157075. eCollection 2016.


Complete Genome Sequence of a Novel Avian Paramyxovirus (APMV-13) Isolated from a Wild Bird in Kazakhstan.

Karamendin K, Kydyrmanov A, Seidalina A, Asanova S, Sayatov M, Kasymbekov E, Khan E, Daulbayeva K, Harrison SM, Carr IM, Goodman SJ, Zhumatov K.

Genome Announc. 2016 May 19;4(3). pii: e00167-16. doi: 10.1128/genomeA.00167-16.


Idiopathic Hypogonadotropic Hypogonadism Caused by Inactivating Mutations in SRA1.

Kotan LD, Cooper C, Darcan Ş, Carr IM, Özen S, Yan Y, Hamedani MK, Gürbüz F, Mengen E, Turan İ, Ulubay A, Akkuş G, Yüksel B, Topaloğlu AK, Leygue E.

J Clin Res Pediatr Endocrinol. 2016 Jun 5;8(2):125-34. doi: 10.4274/jcrpe.3248. Epub 2016 Apr 18.


Biallelic Mutations in PDE10A Lead to Loss of Striatal PDE10A and a Hyperkinetic Movement Disorder with Onset in Infancy.

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.

Am J Hum Genet. 2016 Apr 7;98(4):735-43. doi: 10.1016/j.ajhg.2016.03.015.


Isolation of the protein and RNA content of active sites of transcription from mammalian cells.

Melnik S, Caudron-Herger M, Brant L, Carr IM, Rippe K, Cook PR, Papantonis A.

Nat Protoc. 2016 Mar;11(3):553-65. doi: 10.1038/nprot.2016.032. Epub 2016 Feb 25.


A distinctive oral phenotype points to FAM20A mutations not identified by Sanger sequencing.

Poulter JA, Smith CE, Murrillo G, Silva S, Feather S, Howell M, Crinnion L, Bonthron DT, Carr IM, Watson CM, Inglehearn CF, Mighell AJ.

Mol Genet Genomic Med. 2015 Oct 4;3(6):543-9. doi: 10.1002/mgg3.164. eCollection 2015 Nov.


Deficiency of the myogenic factor MyoD causes a perinatally lethal fetal akinesia.

Watson CM, Crinnion LA, Murphy H, Newbould M, Harrison SM, Lascelles C, Antanaviciute A, Carr IM, Sheridan E, Bonthron DT, Smith A.

J Med Genet. 2016 Apr;53(4):264-9. doi: 10.1136/jmedgenet-2015-103620. Epub 2016 Jan 5.


Enhanced diagnostic yield in Meckel-Gruber and Joubert syndrome through exome sequencing supplemented with split-read mapping.

Watson CM, Crinnion LA, Berry IR, Harrison SM, Lascelles C, Antanaviciute A, Charlton RS, Dobbie A, Carr IM, Bonthron DT.

BMC Med Genet. 2016 Jan 4;17:1. doi: 10.1186/s12881-015-0265-z.


Primary Hypertrophic Osteoarthropathy: An Update on Patient Features and Treatment.

Giancane G, Diggle CP, Legger EG, Tekstra J, Prakken B, Brenkman AB, Carr IM, Markham AF, Bonthron DT, Wulffraat N.

J Rheumatol. 2015 Nov;42(11):2211-4. doi: 10.3899/jrheum.150364. No abstract available.


HACE1 deficiency causes an autosomal recessive neurodevelopmental syndrome.

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.

J Med Genet. 2015 Dec;52(12):797-803. doi: 10.1136/jmedgenet-2015-103344. Epub 2015 Sep 30.


OVA: integrating molecular and physical phenotype data from multiple biomedical domain ontologies with variant filtering for enhanced variant prioritization.

Antanaviciute A, Watson CM, Harrison SM, Lascelles C, Crinnion L, Markham AF, Bonthron DT, Carr IM.

Bioinformatics. 2015 Dec 1;31(23):3822-9. doi: 10.1093/bioinformatics/btv473. Epub 2015 Aug 12.


Rapid Detection of Rare Deleterious Variants by Next Generation Sequencing with Optional Microarray SNP Genotype Data.

Watson CM, Crinnion LA, Gurgel-Gianetti J, Harrison SM, Daly C, Antanavicuite A, Lascelles C, Markham AF, Pena SD, Bonthron DT, Carr IM.

Hum Mutat. 2015 Sep;36(9):823-30. doi: 10.1002/humu.22818. Epub 2015 Jul 22.


Biallelic mutations in the autophagy regulator DRAM2 cause retinal dystrophy with early macular involvement.

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.

Am J Hum Genet. 2015 Jun 4;96(6):948-54. doi: 10.1016/j.ajhg.2015.04.006. Epub 2015 May 14.


GeneTIER: prioritization of candidate disease genes using tissue-specific gene expression profiles.

Antanaviciute A, Daly C, Crinnion LA, Markham AF, Watson CM, Bonthron DT, Carr IM.

Bioinformatics. 2015 Aug 15;31(16):2728-35. doi: 10.1093/bioinformatics/btv196. Epub 2015 Apr 9.


Next-generation Sequencing of RYR1 and CACNA1S in Malignant Hyperthermia and Exertional Heat Illness.

Fiszer D, Shaw MA, Fisher NA, Carr IM, Gupta PK, Watkins EJ, Roiz de Sa D, Kim JH, Hopkins PM.

Anesthesiology. 2015 May;122(5):1033-46. doi: 10.1097/ALN.0000000000000610.


HEATR2 plays a conserved role in assembly of the ciliary motile apparatus.

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.

PLoS Genet. 2014 Sep 18;10(9):e1004577. doi: 10.1371/journal.pgen.1004577. eCollection 2014 Sep.


CCDC151 mutations cause primary ciliary dyskinesia by disruption of the outer dynein arm docking complex formation.

Hjeij R, Onoufriadis A, Watson CM, Slagle CE, Klena NT, Dougherty GW, Kurkowiak M, Loges NT, Diggle CP, Morante NF, Gabriel GC, Lemke KL, Li Y, Pennekamp P, Menchen T, Konert F, Marthin JK, Mans DA, Letteboer SJ, Werner C, Burgoyne T, Westermann C, Rutman A, Carr IM, O'Callaghan C, Moya E, Chung EM; UK10K Consortium, Sheridan E, Nielsen KG, Roepman R, Bartscherer K, Burdine RD, Lo CW, Omran H, Mitchison HM.

Am J Hum Genet. 2014 Sep 4;95(3):257-74. doi: 10.1016/j.ajhg.2014.08.005.


Mutation screening of retinal dystrophy patients by targeted capture from tagged pooled DNAs and next generation sequencing.

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.

PLoS One. 2014 Aug 18;9(8):e104281. doi: 10.1371/journal.pone.0104281. eCollection 2014.


Detection of somatic mutations in tumors using unaligned clonal sequencing data.

Sutton KM, Crinnion LA, Wallace D, Harrison S, Roberts P, Watson CM, Markham AF, Bonthron DT, Quirke P, Carr IM.

Lab Invest. 2014 Oct;94(10):1173-83. doi: 10.1038/labinvest.2014.96. Epub 2014 Jul 28.


Diagnostic whole genome sequencing and split-read mapping for nucleotide resolution breakpoint identification in CNTNAP2 deficiency syndrome.

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.

Am J Med Genet A. 2014 Oct;164A(10):2649-55. doi: 10.1002/ajmg.a.36679. Epub 2014 Jul 16.


An observational study on the expression levels of MDM2 and MDMX proteins, and associated effects on P53 in a series of human liposarcomas.

Touqan N, Diggle CP, Verghese ET, Perry S, Horgan K, Merchant W, Anwar R, Markham AF, Carr IM, Achuthan R.

BMC Clin Pathol. 2013 Dec 13;13(1):32. doi: 10.1186/1472-6890-13-32.


Robust diagnostic genetic testing using solution capture enrichment and a novel variant-filtering interface.

Watson CM, Crinnion LA, Morgan JE, Harrison SM, Diggle CP, Adlard J, Lindsay HA, Camm N, Charlton R, Sheridan E, Bonthron DT, Taylor GR, Carr IM.

Hum Mutat. 2014 Apr;35(4):434-41. doi: 10.1002/humu.22490.


Recessive mutations in SLC38A8 cause foveal hypoplasia and optic nerve misrouting without albinism.

Poulter JA, Al-Araimi M, Conte I, van Genderen MM, 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, Ali M, Inglehearn CF, Toomes C.

Am J Hum Genet. 2013 Dec 5;93(6):1143-50. doi: 10.1016/j.ajhg.2013.11.002. Epub 2013 Nov 27. Review.


The use of high-frequency ultrasound imaging and biofluorescence for in vivo evaluation of gene therapy vectors.

Ingram N, Macnab SA, Marston G, Scott N, Carr IM, Markham AF, Whitehouse A, Coletta PL.

BMC Med Imaging. 2013 Nov 12;13:35. doi: 10.1186/1471-2342-13-35.


Simple and efficient identification of rare recessive pathologically important sequence variants from next generation exome sequence data.

Carr IM, Morgan J, Watson C, Melnik S, Diggle CP, Logan CV, Harrison SM, Taylor GR, Pena SD, Markham AF, Alkuraya FS, Black GC, Ali M, Bonthron DT.

Hum Mutat. 2013 Jul;34(7):945-52. doi: 10.1002/humu.22322. Epub 2013 Apr 29.


Simple detection of germline microsatellite instability for diagnosis of constitutional mismatch repair cancer syndrome.

Ingham D, Diggle CP, Berry I, Bristow CA, Hayward BE, Rahman N, Markham AF, Sheridan EG, Bonthron DT, Carr IM.

Hum Mutat. 2013 Jun;34(6):847-52. doi: 10.1002/humu.22311. Epub 2013 Apr 2.


Effects of EGFR Inhibitor on Helicobacter pylori Induced Gastric Epithelial Pathology in Vivo.

Crabtree JE, Jeremy AH, Duval C, Dixon MF, Danjo K, Carr IM, Pritchard DM, Robinson PA.

Pathogens. 2013 Oct 14;2(4):571-90. doi: 10.3390/pathogens2040571.


Autozygosity mapping with exome sequence data.

Carr IM, Bhaskar S, O'Sullivan J, Aldahmesh MA, Shamseldin HE, Markham AF, Bonthron DT, Black G, Alkuraya FS.

Hum Mutat. 2013 Jan;34(1):50-6. doi: 10.1002/humu.22220. Epub 2012 Oct 22.


Mutation detection by clonal sequencing of PCR amplicons and grouped read typing is applicable to clinical diagnostics.

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.

Hum Mutat. 2013 Jan;34(1):248-54. doi: 10.1002/humu.22207. Epub 2012 Oct 11.


Rapid visualisation of microarray copy number data for the detection of structural variations linked to a disease phenotype.

Carr IM, Diggle CP, Khan K, Inglehearn C, McKibbin M, Bonthron DT, Markham AF, Anwar R, Dobbie A, Pena SD, Ali M.

PLoS One. 2012;7(8):e43466. doi: 10.1371/journal.pone.0043466. Epub 2012 Aug 17.


Mutations in C4orf26, encoding a peptide with in vitro hydroxyapatite crystal nucleation and growth activity, cause amelogenesis imperfecta.

Parry DA, Brookes SJ, Logan CV, Poulter JA, El-Sayed W, Al-Bahlani S, Al Harasi S, Sayed J, Raïf el M, 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.

Am J Hum Genet. 2012 Sep 7;91(3):565-71. doi: 10.1016/j.ajhg.2012.07.020. Epub 2012 Aug 16.


Blood loss during flexible bronchoscopy: a prospective observational study.

Carr IM, Koegelenberg CF, von Groote-Bidlingmaier F, Mowlana A, Silos K, Haverman T, Diacon AH, Bolliger CT.

Respiration. 2012;84(4):312-8. Epub 2012 Aug 9.


Prostaglandin transporter mutations cause pachydermoperiostosis with myelofibrosis.

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.

Hum Mutat. 2012 Aug;33(8):1175-81. doi: 10.1002/humu.22111. Epub 2012 May 29.


Recessive mutations in TSPAN12 cause retinal dysplasia and severe familial exudative vitreoretinopathy (FEVR).

Poulter JA, Davidson AE, Ali M, Gilmour DF, Parry DA, Mintz-Hittner HA, Carr IM, Bottomley HM, Long VW, Downey LM, Sergouniotis PI, Wright GA, MacLaren RE, Moore AT, Webster AR, Inglehearn CF, Toomes C.

Invest Ophthalmol Vis Sci. 2012 May 14;53(6):2873-9. doi: 10.1167/iovs.11-8629.


Confirmation of association of FCGR3B but not FCGR3A copy number with susceptibility to autoantibody positive rheumatoid arthritis.

Robinson JI, Carr IM, Cooper DL, Rashid LH, Martin SG, Emery P, Isaacs JD, Barton A; BRAGGSS, Wilson AG, Barrett JH, Morgan AW.

Hum Mutat. 2012 Apr;33(4):741-9. doi: 10.1002/humu.22031. Epub 2012 Feb 28.


Mutations in MEGF10, a regulator of satellite cell myogenesis, cause early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD).

Logan CV, Lucke B, Pottinger C, Abdelhamed ZA, Parry DA, Szymanska K, Diggle CP, van 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.

Nat Genet. 2011 Nov 20;43(12):1189-92. doi: 10.1038/ng.995.


Next generation sequencing identifies mutations in Atonal homolog 7 (ATOH7) in families with global eye developmental defects.

Khan K, Logan CV, McKibbin M, Sheridan E, Elçioglu NH, Yenice O, Parry DA, Fernandez-Fuentes N, Abdelhamed ZI, 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.

Hum Mol Genet. 2012 Feb 15;21(4):776-83. doi: 10.1093/hmg/ddr509. Epub 2011 Nov 7.


Identification of autosomal recessive disease loci using out-bred nuclear families.

Carr IM, Diggle CP, Touqan N, Anwar R, Sheridan EG, Bonthron DT, Johnson CA, Ali M, Markham AF.

Hum Mutat. 2012 Feb;33(2):338-42. doi: 10.1002/humu.21645. Epub 2011 Nov 28.


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