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Items: 1 to 50 of 129

1.

Association of stroke and bleed events in non-valvular atrial fibrillation patients with direct oral anticoagulant prescriptions in NHS England between 2013 and 2016.

Sheth H, McNally D, Santibanez-Koref M, Burn J.

PLoS One. 2019 Jun 24;14(6):e0218878. doi: 10.1371/journal.pone.0218878. eCollection 2019.

2.

Diverse presentations of cutaneous mosaicism occur in CYLD cutaneous syndrome and may result in parent to child transmission.

Arefi M, Wilson V, Muthiah S, Zwolinski S, Bajwa D, Brennan P, Blasdale K, Bourn D, Burn J, Santibanez-Koref M, Rajan N.

J Am Acad Dermatol. 2019 May 11. pii: S0190-9622(19)30784-4. doi: 10.1016/j.jaad.2019.05.021. [Epub ahead of print]

3.

A sensitive and scalable microsatellite instability assay to diagnose constitutional mismatch repair deficiency by sequencing of peripheral blood leukocytes.

Gallon R, Mühlegger B, Wenzel SS, Sheth H, Hayes C, Aretz S, Dahan K, Foulkes W, Kratz CP, Ripperger T, Azizi AA, Baris Feldman H, Chong AL, Demirsoy U, Florkin B, Imschweiler T, Januszkiewicz-Lewandowska D, Lobitz S, Nathrath M, Pander HJ, Perez-Alonso V, Perne C, Ragab I, Rosenbaum T, Rueda D, Seidel MG, Suerink M, Taeubner J, Zimmermann SY, Zschocke J, Borthwick GM, Burn J, Jackson MS, Santibanez-Koref M, Wimmer K.

Hum Mutat. 2019 May;40(5):649-655. doi: 10.1002/humu.23721. Epub 2019 Mar 6.

4.

An essential role for the Zn2+ transporter ZIP7 in B cell development.

Anzilotti C, Swan DJ, Boisson B, Deobagkar-Lele M, Oliveira C, Chabosseau P, Engelhardt KR, Xu X, Chen R, Alvarez L, Berlinguer-Palmini R, Bull KR, Cawthorne E, Cribbs AP, Crockford TL, Dang TS, Fearn A, Fenech EJ, de Jong SJ, Lagerholm BC, Ma CS, Sims D, van den Berg B, Xu Y, Cant AJ, Kleiner G, Leahy TR, de la Morena MT, Puck JM, Shapiro RS, van der Burg M, Chapman JR, Christianson JC, Davies B, McGrath JA, Przyborski S, Santibanez Koref M, Tangye SG, Werner A, Rutter GA, Padilla-Parra S, Casanova JL, Cornall RJ, Conley ME, Hambleton S.

Nat Immunol. 2019 Mar;20(3):350-361. doi: 10.1038/s41590-018-0295-8. Epub 2019 Feb 4.

PMID:
30718914
5.

An integrated transcriptional analysis of the developing human retina.

Mellough CB, Bauer R, Collin J, Dorgau B, Zerti D, Dolan DWP, Jones CM, Izuogu OG, Yu M, Hallam D, Steyn JS, White K, Steel DH, Santibanez-Koref M, Elliott DJ, Jackson MS, Lindsay S, Grellscheid S, Lako M.

Development. 2019 Jan 29;146(2). pii: dev169474. doi: 10.1242/dev.169474.

6.

Whole Exome Sequencing Reveals the Major Genetic Contributors to Nonsyndromic Tetralogy of Fallot.

Page DJ, Miossec MJ, Williams SG, Monaghan RM, Fotiou E, Cordell HJ, Sutcliffe L, Topf A, Bourgey M, Bourque G, Eveleigh R, Dunwoodie SL, Winlaw DS, Bhattacharya S, Breckpot J, Devriendt K, Gewillig M, Brook JD, Setchfield KJ, Bu'Lock FA, O'Sullivan J, Stuart G, Bezzina CR, Mulder BJM, Postma AV, Bentham JR, Baron M, Bhaskar SS, Black GC, Newman WG, Hentges KE, Lathrop GM, Santibanez-Koref M, Keavney BD.

Circ Res. 2019 Feb 15;124(4):553-563. doi: 10.1161/CIRCRESAHA.118.313250.

PMID:
30582441
7.

A novel panel of short mononucleotide repeats linked to informative polymorphisms enabling effective high volume low cost discrimination between mismatch repair deficient and proficient tumours.

Redford L, Alhilal G, Needham S, O'Brien O, Coaker J, Tyson J, Amorim LM, Middleton I, Izuogu O, Arends M, Oniscu A, Alonso ÁM, Laguna SM, Gallon R, Sheth H, Santibanez-Koref M, Jackson MS, Burn J.

PLoS One. 2018 Aug 29;13(8):e0203052. doi: 10.1371/journal.pone.0203052. eCollection 2018.

8.

Assessing mitochondrial heteroplasmy using next generation sequencing: A note of caution.

Santibanez-Koref M, Griffin H, Turnbull DM, Chinnery PF, Herbert M, Hudson G.

Mitochondrion. 2019 May;46:302-306. doi: 10.1016/j.mito.2018.08.003. Epub 2018 Aug 9.

9.

Analysis of human ES cell differentiation establishes that the dominant isoforms of the lncRNAs RMST and FIRRE are circular.

Izuogu OG, Alhasan AA, Mellough C, Collin J, Gallon R, Hyslop J, Mastrorosa FK, Ehrmann I, Lako M, Elliott DJ, Santibanez-Koref M, Jackson MS.

BMC Genomics. 2018 Apr 20;19(1):276. doi: 10.1186/s12864-018-4660-7.

10.

Interaction between polymorphisms in aspirin metabolic pathways, regular aspirin use and colorectal cancer risk: A case-control study in unselected white European populations.

Sheth H, Northwood E, Ulrich CM, Scherer D, Elliott F, Barrett JH, Forman D, Wolf CR, Smith G, Jackson MS, Santibanez-Koref M, Haile R, Casey G, Jenkins M, Win AK, Hopper JL, Marchand LL, Lindor NM, Thibodeau SN, Potter JD, Burn J, Bishop DT.

PLoS One. 2018 Feb 9;13(2):e0192223. doi: 10.1371/journal.pone.0192223. eCollection 2018.

11.

Publisher Correction: Genome-wide linkage and association study implicates the 10q26 region as a major genetic contributor to primary nonsyndromic vesicoureteric reflux.

Darlow JM, Darlay R, Dobson MG, Stewart A, Charoen P, Southgate J, Baker SC, Xu Y, Hunziker M, Lambert HJ, Green AJ, Santibanez-Koref M, Sayer JA, Goodship THJ, Puri P, Woolf AS, Kenda RB, Barton DE, Cordell HJ.

Sci Rep. 2018 Jan 8;8(1):459. doi: 10.1038/s41598-017-17992-w.

12.

Genome-wide linkage and association study implicates the 10q26 region as a major genetic contributor to primary nonsyndromic vesicoureteric reflux.

Darlow JM, Darlay R, Dobson MG, Stewart A, Charoen P, Southgate J, Baker SC, Xu Y, Hunziker M, Lambert HJ, Green AJ, Santibanez-Koref M, Sayer JA, Goodship THJ, Puri P, Woolf AS, Kenda RB, Barton DE, Cordell HJ.

Sci Rep. 2017 Nov 6;7(1):14595. doi: 10.1038/s41598-017-15062-9. Erratum in: Sci Rep. 2018 Jan 8;8(1):459.

13.

metabolic profiling of Parkinson's disease and mild cognitive impairment.

Burté F, Houghton D, Lowes H, Pyle A, Nesbitt S, Yarnall A, Yu-Wai-Man P, Burn DJ, Santibanez-Koref M, Hudson G.

Mov Disord. 2017 Jun;32(6):927-932. doi: 10.1002/mds.26992. Epub 2017 Apr 10.

14.

Erratum to: Mitochondrial DNA point mutations and relative copy number in 1363 disease and control human brains.

Wei W, Keogh MJ, Wilson I, Coxhead J, Ryan S, Rollinson S, Griffin H, Kurzawa-Akanbi M, Santibanez-Koref M, Talbot K, Turner MR, McKenzie CA, Troakes C, Attems J, Smith C, Al Sarraj S, Morris CM, Ansorge O, Pickering-Brown S, Ironside JW, Chinnery PF.

Acta Neuropathol Commun. 2017 Feb 22;5(1):17. doi: 10.1186/s40478-017-0419-7. No abstract available.

15.

Mitochondrial DNA point mutations and relative copy number in 1363 disease and control human brains.

Wei W, Keogh MJ, Wilson I, Coxhead J, Ryan S, Rollinson S, Griffin H, Kurzawa-Akanbi M, Santibanez-Koref M, Talbot K, Turner MR, McKenzie CA, Troakes C, Attems J, Smith C, Al Sarraj S, Morris CM, Ansorge O, Pickering-Brown S, Ironside JW, Chinnery PF.

Acta Neuropathol Commun. 2017 Feb 2;5(1):13. doi: 10.1186/s40478-016-0404-6. Erratum in: Acta Neuropathol Commun. 2017 Feb 22;5(1):17.

16.

A SLM2 Feedback Pathway Controls Cortical Network Activity and Mouse Behavior.

Ehrmann I, Gazzara MR, Pagliarini V, Dalgliesh C, Kheirollahi-Chadegani M, Xu Y, Cesari E, Danilenko M, Maclennan M, Lowdon K, Vogel T, Keskivali-Bond P, Wells S, Cater H, Fort P, Santibanez-Koref M, Middei S, Sette C, Clowry GJ, Barash Y, Cunningham MO, Elliott DJ.

Cell Rep. 2016 Dec 20;17(12):3269-3280. doi: 10.1016/j.celrep.2016.12.002.

17.

Genetic compendium of 1511 human brains available through the UK Medical Research Council Brain Banks Network Resource.

Keogh MJ, Wei W, Wilson I, Coxhead J, Ryan S, Rollinson S, Griffin H, Kurzawa-Akanbi M, Santibanez-Koref M, Talbot K, Turner MR, McKenzie CA, Troakes C, Attems J, Smith C, Al Sarraj S, Morris CM, Ansorge O, Pickering-Brown S, Ironside JW, Chinnery PF.

Genome Res. 2017 Jan;27(1):165-173. doi: 10.1101/gr.210609.116. Epub 2016 Dec 21.

18.

Thrombotic Microangiopathy in Inverted Formin 2-Mediated Renal Disease.

Challis RC, Ring T, Xu Y, Wong EK, Flossmann O, Roberts IS, Ahmed S, Wetherall M, Salkus G, Brocklebank V, Fester J, Strain L, Wilson V, Wood KM, Marchbank KJ, Santibanez-Koref M, Goodship TH, Kavanagh D.

J Am Soc Nephrol. 2017 Apr;28(4):1084-1091. doi: 10.1681/ASN.2015101189. Epub 2016 Dec 14.

19.

Using MRI to predict future adverse cardiac remodelling in a male mouse model of myocardial infarction.

Redgrave RE, Tual-Chalot S, Davison BJ, Greally E, Santibanez-Koref M, Schneider JE, Blamire AM, Arthur HM.

Int J Cardiol Heart Vasc. 2016 Mar 16;11:29-34. eCollection 2016 Jun.

20.

HDBR Expression: A Unique Resource for Global and Individual Gene Expression Studies during Early Human Brain Development.

Lindsay SJ, Xu Y, Lisgo SN, Harkin LF, Copp AJ, Gerrelli D, Clowry GJ, Talbot A, Keogh MJ, Coxhead J, Santibanez-Koref M, Chinnery PF.

Front Neuroanat. 2016 Oct 26;10:86. eCollection 2016. No abstract available.

21.

Impact of Month of Birth on the Risk of Development of Autoimmune Addison's Disease.

Pazderska A, Fichna M, Mitchell AL, Napier CM, Gan E, Ruchała M, Santibanez-Koref M, Pearce SH.

J Clin Endocrinol Metab. 2016 Nov;101(11):4214-4218. Epub 2016 Aug 30.

22.

Identification of Heterozygous Single- and Multi-exon Deletions in IL7R by Whole Exome Sequencing.

Engelhardt KR, Xu Y, Grainger A, Germani Batacchi MG, Swan DJ, Willet JD, Abd Hamid IJ, Agyeman P, Barge D, Bibi S, Jenkins L, Flood TJ, Abinun M, Slatter MA, Gennery AR, Cant AJ, Santibanez Koref M, Gilmour K, Hambleton S.

J Clin Immunol. 2017 Jan;37(1):42-50. doi: 10.1007/s10875-016-0343-9. Epub 2016 Nov 2.

23.

Functional Characterization of the Osteoarthritis Susceptibility Mapping to CHST11-A Bioinformatics and Molecular Study.

Reynard LN, Ratnayake M, Santibanez-Koref M, Loughlin J.

PLoS One. 2016 Jul 8;11(7):e0159024. doi: 10.1371/journal.pone.0159024. eCollection 2016.

24.

The role of the RAS pathway in iAMP21-ALL.

Ryan SL, Matheson E, Grossmann V, Sinclair P, Bashton M, Schwab C, Towers W, Partington M, Elliott A, Minto L, Richardson S, Rahman T, Keavney B, Skinner R, Bown N, Haferlach T, Vandenberghe P, Haferlach C, Santibanez-Koref M, Moorman AV, Kohlmann A, Irving JA, Harrison CJ.

Leukemia. 2016 Sep;30(9):1824-31. doi: 10.1038/leu.2016.80. Epub 2016 Apr 22.

25.

Respiratory chain deficiency in nonmitochondrial disease.

Pyle A, Nightingale HJ, Griffin H, Abicht A, Kirschner J, Baric I, Cuk M, Douroudis K, Feder L, Kratz M, Czermin B, Kleinle S, Santibanez-Koref M, Karcagi V, Holinski-Feder E, Chinnery PF, Horvath R.

Neurol Genet. 2015 Apr 27;1(1):e6. doi: 10.1212/NXG.0000000000000006. eCollection 2015 Jun.

26.

Erratum to: PTESFinder: a computational method to identify post-transcriptional exon shuffling (PTES) events.

Izuogu OG, Alhasan AA, Alafghani HM, Santibanez-Koref M, Elliott DJ, Jackson MS.

BMC Bioinformatics. 2016 Feb 18;17:92. doi: 10.1186/s12859-016-0949-1. No abstract available.

27.

PTESFinder: a computational method to identify post-transcriptional exon shuffling (PTES) events.

Izuogu OG, Alhasan AA, Alafghani HM, Santibanez-Koref M, Elliott DJ, Jackson MS.

BMC Bioinformatics. 2016 Jan 13;17:31. doi: 10.1186/s12859-016-0881-4. Erratum in: BMC Bioinformatics. 2016;17:92. Elliot, David J [corrected to Elliott, David J].

28.

Circular RNA enrichment in platelets is a signature of transcriptome degradation.

Alhasan AA, Izuogu OG, Al-Balool HH, Steyn JS, Evans A, Colzani M, Ghevaert C, Mountford JC, Marenah L, Elliott DJ, Santibanez-Koref M, Jackson MS.

Blood. 2016 Mar 3;127(9):e1-e11. doi: 10.1182/blood-2015-06-649434. Epub 2015 Dec 10.

29.

Frequency of rare recessive mutations in unexplained late onset cerebellar ataxia.

Keogh MJ, Steele H, Douroudis K, Pyle A, Duff J, Hussain R, Smertenko T, Griffin H, Santibanez-Koref M, Horvath R, Chinnery PF.

J Neurol. 2015 Aug;262(8):1822-7. doi: 10.1007/s00415-015-7772-x. Epub 2015 May 16.

30.

Extreme-Depth Re-sequencing of Mitochondrial DNA Finds No Evidence of Paternal Transmission in Humans.

Pyle A, Hudson G, Wilson IJ, Coxhead J, Smertenko T, Herbert M, Santibanez-Koref M, Chinnery PF.

PLoS Genet. 2015 May 14;11(5):e1005040. doi: 10.1371/journal.pgen.1005040. eCollection 2015 May.

31.

Case Report: Whole-exome analysis of a child with polycystic kidney disease and ventriculomegaly.

Nabhan MM, Abdelaziz H, Xu Y, El Sayed R, Santibanez-Koref M, Soliman NA, Sayer JA.

Genet Mol Res. 2015 Apr 17;14(2):3618-24. doi: 10.4238/2015.April.17.11.

32.

A novel LMX1B mutation in a family with end-stage renal disease of 'unknown cause'.

Edwards N, Rice SJ, Raman S, Hynes AM, Srivastava S, Moore I, Al-Hamed M, Xu Y, Santibanez-Koref M, Thwaites DT, Gale DP, Sayer JA.

Clin Kidney J. 2015 Feb;8(1):113-9. doi: 10.1093/ckj/sfu129. Epub 2014 Dec 5.

33.

Exome sequencing in undiagnosed inherited and sporadic ataxias.

Pyle A, Smertenko T, Bargiela D, Griffin H, Duff J, Appleton M, Douroudis K, Pfeffer G, Santibanez-Koref M, Eglon G, Yu-Wai-Man P, Ramesh V, Horvath R, Chinnery PF.

Brain. 2015 Feb;138(Pt 2):276-83. doi: 10.1093/brain/awu348. Epub 2014 Dec 12.

34.

Early-onset lymphoproliferation and autoimmunity caused by germline STAT3 gain-of-function mutations.

Milner JD, Vogel TP, Forbes L, Ma CA, Stray-Pedersen A, Niemela JE, Lyons JJ, Engelhardt KR, Zhang Y, Topcagic N, Roberson ED, Matthews H, Verbsky JW, Dasu T, Vargas-Hernandez A, Varghese N, McClain KL, Karam LB, Nahmod K, Makedonas G, Mace EM, Sorte HS, Perminow G, Rao VK, O'Connell MP, Price S, Su HC, Butrick M, McElwee J, Hughes JD, Willet J, Swan D, Xu Y, Santibanez-Koref M, Slowik V, Dinwiddie DL, Ciaccio CE, Saunders CJ, Septer S, Kingsmore SF, White AJ, Cant AJ, Hambleton S, Cooper MA.

Blood. 2015 Jan 22;125(4):591-9. doi: 10.1182/blood-2014-09-602763. Epub 2014 Oct 30.

35.

Using population data for assessing next-generation sequencing performance.

Houniet DT, Rahman TJ, Al Turki S, Hurles ME, Xu Y, Goodship J, Keavney B, Santibanez Koref M.

Bioinformatics. 2015 Jan 1;31(1):56-61. doi: 10.1093/bioinformatics/btu606. Epub 2014 Sep 17.

36.

Human Tra2 proteins jointly control a CHEK1 splicing switch among alternative and constitutive target exons.

Best A, James K, Dalgliesh C, Hong E, Kheirolahi-Kouhestani M, Curk T, Xu Y, Danilenko M, Hussain R, Keavney B, Wipat A, Klinck R, Cowell IG, Cheong Lee K, Austin CA, Venables JP, Chabot B, Santibanez Koref M, Tyson-Capper A, Elliott DJ.

Nat Commun. 2014 Sep 11;5:4760. doi: 10.1038/ncomms5760.

37.

Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies.

Taylor RW, Pyle A, Griffin H, Blakely EL, Duff J, He L, Smertenko T, Alston CL, Neeve VC, Best A, Yarham JW, Kirschner J, Schara U, Talim B, Topaloglu H, Baric I, Holinski-Feder E, Abicht A, Czermin B, Kleinle S, Morris AA, Vassallo G, Gorman GS, Ramesh V, Turnbull DM, Santibanez-Koref M, McFarland R, Horvath R, Chinnery PF.

JAMA. 2014 Jul 2;312(1):68-77. doi: 10.1001/jama.2014.7184.

38.

Linkage analysis and the study of Mendelian disease in the era of whole exome and genome sequencing.

Teare MD, Santibañez Koref MF.

Brief Funct Genomics. 2014 Sep;13(5):378-83. doi: 10.1093/bfgp/elu024. Epub 2014 Jul 14. Review.

PMID:
25024279
39.

EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia.

Boczonadi V, Müller JS, Pyle A, Munkley J, Dor T, Quartararo J, Ferrero I, Karcagi V, Giunta M, Polvikoski T, Birchall D, Princzinger A, Cinnamon Y, Lützkendorf S, Piko H, Reza M, Florez L, Santibanez-Koref M, Griffin H, Schuelke M, Elpeleg O, Kalaydjieva L, Lochmüller H, Elliott DJ, Chinnery PF, Edvardson S, Horvath R.

Nat Commun. 2014 Jul 3;5:4287. doi: 10.1038/ncomms5287.

40.

Defective i6A37 modification of mitochondrial and cytosolic tRNAs results from pathogenic mutations in TRIT1 and its substrate tRNA.

Yarham JW, Lamichhane TN, Pyle A, Mattijssen S, Baruffini E, Bruni F, Donnini C, Vassilev A, He L, Blakely EL, Griffin H, Santibanez-Koref M, Bindoff LA, Ferrero I, Chinnery PF, McFarland R, Maraia RJ, Taylor RW.

PLoS Genet. 2014 Jun 5;10(6):e1004424. doi: 10.1371/journal.pgen.1004424. eCollection 2014 Jun.

41.

Accurate mitochondrial DNA sequencing using off-target reads provides a single test to identify pathogenic point mutations.

Griffin HR, Pyle A, Blakely EL, Alston CL, Duff J, Hudson G, Horvath R, Wilson IJ, Santibanez-Koref M, Taylor RW, Chinnery PF.

Genet Med. 2014 Dec;16(12):962-71. doi: 10.1038/gim.2014.66. Epub 2014 Jun 5.

42.

Characterization of a factor H mutation that perturbs the alternative pathway of complement in a family with membranoproliferative GN.

Wong EK, Anderson HE, Herbert AP, Challis RC, Brown P, Reis GS, Tellez JO, Strain L, Fluck N, Humphrey A, Macleod A, Richards A, Ahlert D, Santibanez-Koref M, Barlow PN, Marchbank KJ, Harris CL, Goodship TH, Kavanagh D.

J Am Soc Nephrol. 2014 Nov;25(11):2425-33. doi: 10.1681/ASN.2013070732. Epub 2014 Apr 10.

43.

Human chondrocytes respond discordantly to the protein encoded by the osteoarthritis susceptibility gene GDF5.

Ratnayake M, Plöger F, Santibanez-Koref M, Loughlin J.

PLoS One. 2014 Jan 21;9(1):e86590. doi: 10.1371/journal.pone.0086590. eCollection 2014.

44.

Behr's Syndrome is Typically Associated with Disturbed Mitochondrial Translation and Mutations in the C12orf65 Gene.

Pyle A, Ramesh V, Bartsakoulia M, Boczonadi V, Gomez-Duran A, Herczegfalvi A, Blakely EL, Smertenko T, Duff J, Eglon G, Moore D, Yu-Wai-Man P, Douroudis K, Santibanez-Koref M, Griffin H, Lochmüller H, Karcagi V, Taylor RW, Chinnery PF, Horvath R.

J Neuromuscul Dis. 2014;1(1):55-63. doi: 10.3233/JND-140003.

45.

Mutations in FAM111B cause hereditary fibrosing poikiloderma with tendon contracture, myopathy, and pulmonary fibrosis.

Mercier S, Küry S, Shaboodien G, Houniet DT, Khumalo NP, Bou-Hanna C, Bodak N, Cormier-Daire V, David A, Faivre L, Figarella-Branger D, Gherardi RK, Glen E, Hamel A, Laboisse C, Le Caignec C, Lindenbaum P, Magot A, Munnich A, Mussini JM, Pillay K, Rahman T, Redon R, Salort-Campana E, Santibanez-Koref M, Thauvin C, Barbarot S, Keavney B, Bézieau S, Mayosi BM.

Am J Hum Genet. 2013 Dec 5;93(6):1100-7. doi: 10.1016/j.ajhg.2013.10.013. Epub 2013 Nov 21.

46.

Identification of a neuronal transcription factor network involved in medulloblastoma development.

Lastowska M, Al-Afghani H, Al-Balool HH, Sheth H, Mercer E, Coxhead JM, Redfern CP, Peters H, Burt AD, Santibanez-Koref M, Bacon CM, Chesler L, Rust AG, Adams DJ, Williamson D, Clifford SC, Jackson MS.

Acta Neuropathol Commun. 2013 Jul 11;1:35. doi: 10.1186/2051-5960-1-35.

47.

Late-onset sacsinopathy diagnosed by exome sequencing and comparative genomic hybridization.

Pyle A, Griffin H, Duff J, Bennett S, Zwolinski S, Smertenko T, Yu-Wai Man P, Santibanez-Koref M, Horvath R, Chinnery PF.

J Neurogenet. 2013 Dec;27(4):176-82. doi: 10.3109/01677063.2013.831094. Epub 2013 Nov 4.

48.

Bayesian inference supports a location and neighbour-dependent model of DNA methylation propagation at the MGMT gene promoter in lung tumours.

Bonello N, Sampson J, Burn J, Wilson IJ, McGrown G, Margison GP, Thorncroft M, Crossbie P, Povey AC, Santibanez-Koref M, Walters K.

J Theor Biol. 2013 Nov 7;336:87-95. doi: 10.1016/j.jtbi.2013.07.019. Epub 2013 Jul 30.

PMID:
23911575
49.

Clinical and functional characterisation of the combined respiratory chain defect in two sisters due to autosomal recessive mutations in MTFMT.

Neeve VC, Pyle A, Boczonadi V, Gomez-Duran A, Griffin H, Santibanez-Koref M, Gaiser U, Bauer P, Tzschach A, Chinnery PF, Horvath R.

Mitochondrion. 2013 Nov;13(6):743-8. doi: 10.1016/j.mito.2013.03.002. Epub 2013 Mar 14.

50.

NDUFS8-related Complex I Deficiency Extends Phenotype from "PEO Plus" to Leigh Syndrome.

Marina AD, Schara U, Pyle A, Möller-Hartmann C, Holinski-Feder E, Abicht A, Czermin B, Lochmüller H, Griffin H, Santibanez-Koref M, Chinnery PF, Horvath R.

JIMD Rep. 2013;10:17-22. doi: 10.1007/8904_2012_195. Epub 2012 Nov 18.

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