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Items: 1 to 20 of 90


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.

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