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Items: 1 to 50 of 147

1.

An actionable KCNH2 Long QT Syndrome variant detected by sequence and haplotype analysis in a population research cohort.

Kerr SM, Klaric L, Halachev M, Hayward C, Boutin TS, Meynert AM, Semple CA, Tuiskula AM, Swan H, Santoyo-Lopez J, Vitart V, Haley C, Dean J, Miedzybrodzka Z, Aitman TJ, Wilson JF.

Sci Rep. 2019 Jul 29;9(1):10964. doi: 10.1038/s41598-019-47436-6.

2.

Camk2n1 Is a Negative Regulator of Blood Pressure, Left Ventricular Mass, Insulin Sensitivity, and Promotes Adiposity.

Alfazema N, Barrier M, de Procé SM, Menzies RI, Carter R, Stewart K, Diaz AG, Moyon B, Webster Z, Bellamy COC, Arends MJ, Stimson RH, Morton NM, Aitman TJ, Coan PM.

Hypertension. 2019 Sep;74(3):687-696. doi: 10.1161/HYPERTENSIONAHA.118.12409. Epub 2019 Jul 22.

3.

Germline selection shapes human mitochondrial DNA diversity.

Wei W, Tuna S, Keogh MJ, Smith KR, Aitman TJ, Beales PL, Bennett DL, Gale DP, Bitner-Glindzicz MAK, Black GC, Brennan P, Elliott P, Flinter FA, Floto RA, Houlden H, Irving M, Koziell A, Maher ER, Markus HS, Morrell NW, Newman WG, Roberts I, Sayer JA, Smith KGC, Taylor JC, Watkins H, Webster AR, Wilkie AOM, Williamson C; NIHR BioResource–Rare Diseases; 100,000 Genomes Project–Rare Diseases Pilot, Ashford S, Penkett CJ, Stirrups KE, Rendon A, Ouwehand WH, Bradley JR, Raymond FL, Caulfield M, Turro E, Chinnery PF.

Science. 2019 May 24;364(6442). pii: eaau6520. doi: 10.1126/science.aau6520. Epub 2019 May 23.

4.

DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency.

Logan CV, Murray JE, Parry DA, Robertson A, Bellelli R, Tarnauskaitė Ž, Challis R, Cleal L, Borel V, Fluteau A, Santoyo-Lopez J; SGP Consortium, Aitman T, Barroso I, Basel D, Bicknell LS, Goel H, Hu H, Huff C, Hutchison M, Joyce C, Knox R, Lacroix AE, Langlois S, McCandless S, McCarrier J, Metcalfe KA, Morrissey R, Murphy N, Netchine I, O'Connell SM, Olney AH, Paria N, Rosenfeld JA, Sherlock M, Syverson E, White PC, Wise C, Yu Y, Zacharin M, Banerjee I, Reijns M, Bober MB, Semple RK, Boulton SJ, Rios JJ, Jackson AP.

Am J Hum Genet. 2018 Dec 6;103(6):1038-1044. doi: 10.1016/j.ajhg.2018.10.024. Epub 2018 Nov 29.

5.

A Dominantly Inherited 5' UTR Variant Causing Methylation-Associated Silencing of BRCA1 as a Cause of Breast and Ovarian Cancer.

Evans DGR, van Veen EM, Byers HJ, Wallace AJ, Ellingford JM, Beaman G, Santoyo-Lopez J, Aitman TJ, Eccles DM, Lalloo FI, Smith MJ, Newman WG.

Am J Hum Genet. 2018 Aug 2;103(2):213-220. doi: 10.1016/j.ajhg.2018.07.002.

6.

Epoxygenase inactivation exacerbates diet and aging-associated metabolic dysfunction resulting from impaired adipogenesis.

Olona A, Terra X, Ko JH, Grau-Bové C, Pinent M, Ardevol A, Diaz AG, Moreno-Moral A, Edin M, Bishop-Bailey D, Zeldin DC, Aitman TJ, Petretto E, Blay M, Behmoaras J.

Mol Metab. 2018 May;11:18-32. doi: 10.1016/j.molmet.2018.03.003. Epub 2018 Mar 9.

7.

Targeted genetic analysis in a large cohort of familial and sporadic cases of aneurysm or dissection of the thoracic aorta.

Weerakkody R, Ross D, Parry DA, Ziganshin B, Vandrovcova J, Gampawar P, Abdullah A, Biggs J, Dumfarth J, Ibrahim Y; Yale Aortic Institute Data and Repository Team, Bicknell C, Field M, Elefteriades J, Cheshire N, Aitman TJ.

Genet Med. 2018 Nov;20(11):1414-1422. doi: 10.1038/gim.2018.27. Epub 2018 Mar 15.

8.

C9ORF72 repeat expansion causes vulnerability of motor neurons to Ca2+-permeable AMPA receptor-mediated excitotoxicity.

Selvaraj BT, Livesey MR, Zhao C, Gregory JM, James OT, Cleary EM, Chouhan AK, Gane AB, Perkins EM, Dando O, Lillico SG, Lee YB, Nishimura AL, Poreci U, Thankamony S, Pray M, Vasistha NA, Magnani D, Borooah S, Burr K, Story D, McCampbell A, Shaw CE, Kind PC, Aitman TJ, Whitelaw CBA, Wilmut I, Smith C, Miles GB, Hardingham GE, Wyllie DJA, Chandran S.

Nat Commun. 2018 Jan 24;9(1):347. doi: 10.1038/s41467-017-02729-0.

9.

Multiplexed DNA Methylation Analysis of Target Regions Using Microfluidics (Fluidigm).

Adamowicz M, Maratou K, Aitman TJ.

Methods Mol Biol. 2018;1708:349-363. doi: 10.1007/978-1-4939-7481-8_18.

PMID:
29224153
10.

Changes in the Coding and Non-coding Transcriptome and DNA Methylome that Define the Schwann Cell Repair Phenotype after Nerve Injury.

Arthur-Farraj PJ, Morgan CC, Adamowicz M, Gomez-Sanchez JA, Fazal SV, Beucher A, Razzaghi B, Mirsky R, Jessen KR, Aitman TJ.

Cell Rep. 2017 Sep 12;20(11):2719-2734. doi: 10.1016/j.celrep.2017.08.064.

11.

Complement Factor B Is a Determinant of Both Metabolic and Cardiovascular Features of Metabolic Syndrome.

Coan PM, Barrier M, Alfazema N, Carter RN, Marion de Procé S, Dopico XC, Garcia Diaz A, Thomson A, Jackson-Jones LH, Moyon B, Webster Z, Ross D, Moss J, Arends MJ, Morton NM, Aitman TJ.

Hypertension. 2017 Jul 24. pii: HYPERTENSIONAHA.117.09242. doi: 10.1161/HYPERTENSIONAHA.117.09242. [Epub ahead of print]

12.

Corrigendum to "Genetic epidemiology of motor neuron disease-associated variants in the Scottish population." [Neurobiol. Aging 51 (2017) 178.e11-178.e20].

Black HA, Leighton DJ, Cleary EM, Rose E, Stephenson L, Colville S, Ross D, Warner J, Porteous M, Gorrie GH, Swingler R, Goldstein D, Harms MB, Connick P, Pal S, Aitman TJ, Chandran S.

Neurobiol Aging. 2017 Aug;56:214. doi: 10.1016/j.neurobiolaging.2017.04.019. No abstract available.

13.

BACH2 immunodeficiency illustrates an association between super-enhancers and haploinsufficiency.

Afzali B, Grönholm J, Vandrovcova J, O'Brien C, Sun HW, Vanderleyden I, Davis FP, Khoder A, Zhang Y, Hegazy AN, Villarino AV, Palmer IW, Kaufman J, Watts NR, Kazemian M, Kamenyeva O, Keith J, Sayed A, Kasperaviciute D, Mueller M, Hughes JD, Fuss IJ, Sadiyah MF, Montgomery-Recht K, McElwee J, Restifo NP, Strober W, Linterman MA, Wingfield PT, Uhlig HH, Roychoudhuri R, Aitman TJ, Kelleher P, Lenardo MJ, O'Shea JJ, Cooper N, Laurence ADJ.

Nat Immunol. 2017 Jul;18(7):813-823. doi: 10.1038/ni.3753. Epub 2017 May 22.

14.

Identification of Ceruloplasmin as a Gene that Affects Susceptibility to Glomerulonephritis Through Macrophage Function.

Chen TD, Rotival M, Chiu LY, Bagnati M, Ko JH, Srivastava PK, Petretto E, Pusey CD, Lai PC, Aitman TJ, Cook HT, Behmoaras J.

Genetics. 2017 Jun;206(2):1139-1151. doi: 10.1534/genetics.116.197376. Epub 2017 Apr 26.

15.

Genetic, physiological and comparative genomic studies of hypertension and insulin resistance in the spontaneously hypertensive rat.

Coan PM, Hummel O, Garcia Diaz A, Barrier M, Alfazema N, Norsworthy PJ, Pravenec M, Petretto E, Hübner N, Aitman TJ.

Dis Model Mech. 2017 Mar 1;10(3):297-306. doi: 10.1242/dmm.026716. Epub 2017 Jan 26.

16.

Genetic epidemiology of motor neuron disease-associated variants in the Scottish population.

Black HA, Leighton DJ, Cleary EM, Rose E, Stephenson L, Colville S, Ross D, Warner J, Porteous M, Gorrie GH, Swingler R, Goldstein D, Harms MB, Connick P, Pal S, Aitman TJ, Chandran S.

Neurobiol Aging. 2017 Mar;51:178.e11-178.e20. doi: 10.1016/j.neurobiolaging.2016.12.013. Epub 2016 Dec 21. Erratum in: Neurobiol Aging. 2017 Aug;56:214.

17.

Targeted next-generation sequencing makes new molecular diagnoses and expands genotype-phenotype relationship in Ehlers-Danlos syndrome.

Weerakkody RA, Vandrovcova J, Kanonidou C, Mueller M, Gampawar P, Ibrahim Y, Norsworthy P, Biggs J, Abdullah A, Ross D, Black HA, Ferguson D, Cheshire NJ, Kazkaz H, Grahame R, Ghali N, Vandersteen A, Pope FM, Aitman TJ.

Genet Med. 2016 Nov;18(11):1119-1127. doi: 10.1038/gim.2016.14. Epub 2016 Mar 24.

PMID:
27011056
18.

Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S, which Encode Subcomponents C1r and C1s of Complement.

Kapferer-Seebacher I, Pepin M, Werner R, Aitman TJ, Nordgren A, Stoiber H, Thielens N, Gaboriaud C, Amberger A, Schossig A, Gruber R, Giunta C, Bamshad M, Björck E, Chen C, Chitayat D, Dorschner M, Schmitt-Egenolf M, Hale CJ, Hanna D, Hennies HC, Heiss-Kisielewsky I, Lindstrand A, Lundberg P, Mitchell AL, Nickerson DA, Reinstein E, Rohrbach M, Romani N, Schmuth M, Silver R, Taylan F, Vandersteen A, Vandrovcova J, Weerakkody R, Yang M, Pope FM; Molecular Basis of Periodontal EDS Consortium, Byers PH, Zschocke J.

Am J Hum Genet. 2016 Nov 3;99(5):1005-1014. doi: 10.1016/j.ajhg.2016.08.019. Epub 2016 Oct 13.

19.

A RATional choice for translational research?

Aitman T, Dhillon P, Geurts AM.

Dis Model Mech. 2016 Oct 1;9(10):1069-1072.

20.

De novo mutations in autosomal recessive congenital malformations.

Black HA, Parry D, Atanur SS, Ross D, Rose E, Russell H, Stock S, Warner J, Porteous M, Aitman TJ, Evans MJ.

Genet Med. 2016 Dec;18(12):1325-1326. doi: 10.1038/gim.2016.62. Epub 2016 Jun 9. No abstract available.

PMID:
27280866
21.

Von Willebrand Factor Gene Variants Associate with Herpes simplex Encephalitis.

Abdelmagid N, Bereczky-Veress B, Atanur S, Musilová A, Zídek V, Saba L, Warnecke A, Khademi M, Studahl M, Aurelius E, Hjalmarsson A, Garcia-Diaz A, Denis CV, Bergström T, Sköldenberg B, Kockum I, Aitman T, Hübner N, Olsson T, Pravenec M, Diez M.

PLoS One. 2016 May 25;11(5):e0155832. doi: 10.1371/journal.pone.0155832. eCollection 2016.

22.

New Wistar Kyoto and spontaneously hypertensive rat transgenic models with ubiquitous expression of green fluorescent protein.

Garcia Diaz AI, Moyon B, Coan PM, Alfazema N, Venda L, Woollard K, Aitman T.

Dis Model Mech. 2016 Apr;9(4):463-71. doi: 10.1242/dmm.024208. Epub 2016 Jan 14.

23.

Improved cardiovascular outcomes following temporal advances in lipid-lowering therapy in a genetically-characterised cohort of familial hypercholesterolaemia homozygotes.

Thompson GR, Seed M, Naoumova RP, Neuwirth C, Walji S, Aitman TJ, Scott J, Myant NB, Soutar AK.

Atherosclerosis. 2015 Nov;243(1):328-33. doi: 10.1016/j.atherosclerosis.2015.09.029. Epub 2015 Sep 28.

24.

The zinc transporter ZIP12 regulates the pulmonary vascular response to chronic hypoxia.

Zhao L, Oliver E, Maratou K, Atanur SS, Dubois OD, Cotroneo E, Chen CN, Wang L, Arce C, Chabosseau PL, Ponsa-Cobas J, Frid MG, Moyon B, Webster Z, Aldashev A, Ferrer J, Rutter GA, Stenmark KR, Aitman TJ, Wilkins MR.

Nature. 2015 Aug 20;524(7565):356-60. doi: 10.1038/nature14620. Epub 2015 Aug 10.

25.

Epigenome-wide association of DNA methylation markers in peripheral blood from Indian Asians and Europeans with incident type 2 diabetes: a nested case-control study.

Chambers JC, Loh M, Lehne B, Drong A, Kriebel J, Motta V, Wahl S, Elliott HR, Rota F, Scott WR, Zhang W, Tan ST, Campanella G, Chadeau-Hyam M, Yengo L, Richmond RC, Adamowicz-Brice M, Afzal U, Bozaoglu K, Mok ZY, Ng HK, Pattou F, Prokisch H, Rozario MA, Tarantini L, Abbott J, Ala-Korpela M, Albetti B, Ammerpohl O, Bertazzi PA, Blancher C, Caiazzo R, Danesh J, Gaunt TR, de Lusignan S, Gieger C, Illig T, Jha S, Jones S, Jowett J, Kangas AJ, Kasturiratne A, Kato N, Kotea N, Kowlessur S, Pitkäniemi J, Punjabi P, Saleheen D, Schafmayer C, Soininen P, Tai ES, Thorand B, Tuomilehto J, Wickremasinghe AR, Kyrtopoulos SA, Aitman TJ, Herder C, Hampe J, Cauchi S, Relton CL, Froguel P, Soong R, Vineis P, Jarvelin MR, Scott J, Grallert H, Bollati V, Elliott P, McCarthy MI, Kooner JS.

Lancet Diabetes Endocrinol. 2015 Jul;3(7):526-534. doi: 10.1016/S2213-8587(15)00127-8. Epub 2015 Jun 18.

26.

Genomic landscape of rat strain and substrain variation.

Hermsen R, de Ligt J, Spee W, Blokzijl F, Schäfer S, Adami E, Boymans S, Flink S, van Boxtel R, van der Weide RH, Aitman T, Hübner N, Simonis M, Tabakoff B, Guryev V, Cuppen E.

BMC Genomics. 2015 May 6;16:357. doi: 10.1186/s12864-015-1594-1.

27.

Macrophage epoxygenase determines a profibrotic transcriptome signature.

Behmoaras J, Diaz AG, Venda L, Ko JH, Srivastava P, Montoya A, Faull P, Webster Z, Moyon B, Pusey CD, Abraham DJ, Petretto E, Cook TH, Aitman TJ.

J Immunol. 2015 May 15;194(10):4705-4716. doi: 10.4049/jimmunol.1402979. Epub 2015 Apr 3.

28.

Performance evaluation of Sanger sequencing for the diagnosis of primary hyperoxaluria and comparison with targeted next generation sequencing.

Williams EL, Bagg EA, Mueller M, Vandrovcova J, Aitman TJ, Rumsby G.

Mol Genet Genomic Med. 2015 Jan;3(1):69-78. doi: 10.1002/mgg3.118.

29.

Systems biology with high-throughput sequencing reveals genetic mechanisms underlying the metabolic syndrome in the Lyon hypertensive rat.

Wang J, Ma MC, Mennie AK, Pettus JM, Xu Y, Lin L, Traxler MG, Jakoubek J, Atanur SS, Aitman TJ, Xing Y, Kwitek AE.

Circ Cardiovasc Genet. 2015 Apr;8(2):316-26. doi: 10.1161/CIRCGENETICS.114.000520. Epub 2015 Jan 8.

30.

Genetic analysis of the cardiac methylome at single nucleotide resolution in a model of human cardiovascular disease.

Johnson MD, Mueller M, Adamowicz-Brice M, Collins MJ, Gellert P, Maratou K, Srivastava PK, Rotival M, Butt S, Game L, Atanur SS, Silver N, Norsworthy PJ, Langley SR, Petretto E, Pravenec M, Aitman TJ.

PLoS Genet. 2014 Dec 4;10(12):e1004813. doi: 10.1371/journal.pgen.1004813. eCollection 2014 Dec.

31.

α1-A680T variant in GUCY1A3 as a candidate conferring protection from pulmonary hypertension among Kyrgyz highlanders.

Wilkins MR, Aldashev AA, Wharton J, Rhodes CJ, Vandrovcova J, Kasperaviciute D, Bhosle SG, Mueller M, Geschka S, Rison S, Kojonazarov B, Morrell NW, Neidhardt I, Surmeli NB, Aitman TJ, Stasch JP, Behrends S, Marletta MA.

Circ Cardiovasc Genet. 2014 Dec;7(6):920-9. doi: 10.1161/CIRCGENETICS.114.000763. Epub 2014 Nov 4. Erratum in: Circ Cardiovasc Genet. 2015 Feb;8(1):244. Surmeli, Nur Basek [corrected to Surmeli, Nur Basak]. Circ Cardiovasc Genet. 2015 Feb;8(1):244.

32.

Kcnn4 is a regulator of macrophage multinucleation in bone homeostasis and inflammatory disease.

Kang H, Kerloc'h A, Rotival M, Xu X, Zhang Q, D'Souza Z, Kim M, Scholz JC, Ko JH, Srivastava PK, Genzen JR, Cui W, Aitman TJ, Game L, Melvin JE, Hanidu A, Dimock J, Zheng J, Souza D, Behera AK, Nabozny G, Cook HT, Bassett JH, Williams GR, Li J, Vignery A, Petretto E, Behmoaras J.

Cell Rep. 2014 Aug 21;8(4):1210-24. doi: 10.1016/j.celrep.2014.07.032. Epub 2014 Aug 14.

33.

The South Asian genome.

Chambers JC, Abbott J, Zhang W, Turro E, Scott WR, Tan ST, Afzal U, Afaq S, Loh M, Lehne B, O'Reilly P, Gaulton KJ, Pearson RD, Li X, Lavery A, Vandrovcova J, Wass MN, Miller K, Sehmi J, Oozageer L, Kooner IK, Al-Hussaini A, Mills R, Grewal J, Panoulas V, Lewin AM, Northwood K, Wander GS, Geoghegan F, Li Y, Wang J, Aitman TJ, McCarthy MI, Scott J, Butcher S, Elliott P, Kooner JS.

PLoS One. 2014 Aug 12;9(8):e102645. doi: 10.1371/journal.pone.0102645. eCollection 2014.

34.

Targeted genetic testing for familial hypercholesterolaemia using next generation sequencing: a population-based study.

Norsworthy PJ, Vandrovcova J, Thomas ER, Campbell A, Kerr SM, Biggs J, Game L, Soutar AK, Smith BH, Dominiczak AF, Porteous DJ, Morris AD, Scotland G, Aitman TJ.

BMC Med Genet. 2014 Jun 23;15:70. doi: 10.1186/1471-2350-15-70.

35.

Genetic analysis of autoimmune type 1 diabetes mellitus in mice. 1991.

Todd JA, Aitman TJ, Cornall RJ, Ghosh S, Hall JR, Hearne CM, Knight AM, Love JM, McAleer MA, Prins JB, Rodrigues N, Lathrop M, Pressey A, DeLarato NH, Peterson LB, Wicker LS.

J Immunol. 2014 Jul 1;193(1):7-12. No abstract available.

36.

Resequencing the susceptibility gene, ITGAM, identifies two functionally deleterious rare variants in systemic lupus erythematosus cases.

Roberts AL, Thomas ER, Bhosle S, Game L, Obraztsova O, Aitman TJ, Vyse TJ, Rhodes B.

Arthritis Res Ther. 2014 May 21;16(3):R114. doi: 10.1186/ar4566.

37.

Genomic structure of nucleotide diversity among Lyon rat models of metabolic syndrome.

Ma MC, Atanur SS, Aitman TJ, Kwitek AE.

BMC Genomics. 2014 Mar 14;15:197. doi: 10.1186/1471-2164-15-197.

38.

Natural polymorphisms in Tap2 influence negative selection and CD4∶CD8 lineage commitment in the rat.

Tuncel J, Haag S, Yau AC, Norin U, Baud A, Lönnblom E, Maratou K, Ytterberg AJ, Ekman D, Thordardottir S, Johannesson M, Gillett A; EURATRANS Consortium, Stridh P, Jagodic M, Olsson T, Fernández-Teruel A, Zubarev RA, Mott R, Aitman TJ, Flint J, Holmdahl R.

PLoS Genet. 2014 Feb 20;10(2):e1004151. doi: 10.1371/journal.pgen.1004151. eCollection 2014 Feb.

39.

Identification and biochemical analysis of a novel APOB mutation that causes autosomal dominant hypercholesterolemia.

Thomas ER, Atanur SS, Norsworthy PJ, Encheva V, Snijders AP, Game L, Vandrovcova J, Siddiq A, Seed M, Soutar AK, Aitman TJ.

Mol Genet Genomic Med. 2013 Sep;1(3):155-61. doi: 10.1002/mgg3.17. Epub 2013 Jun 13.

40.

Familial hypercholesterolaemia: a pressing issue for European health care.

Brice P, Burton H, Edwards CW, Humphries SE, Aitman TJ.

Atherosclerosis. 2013 Dec;231(2):223-6. doi: 10.1016/j.atherosclerosis.2013.09.019. Epub 2013 Oct 2.

PMID:
24267231
41.

JunD/AP1 regulatory network analysis during macrophage activation in a rat model of crescentic glomerulonephritis.

Srivastava PK, Hull RP, Behmoaras J, Petretto E, Aitman TJ.

BMC Syst Biol. 2013 Sep 22;7:93. doi: 10.1186/1752-0509-7-93.

42.

Experimental crescentic glomerulonephritis: a new bicongenic rat model.

D'Souza Z, McAdoo SP, Smith J, Pusey CD, Cook HT, Behmoaras J, Aitman TJ.

Dis Model Mech. 2013 Nov;6(6):1477-86. doi: 10.1242/dmm.012328. Epub 2013 Aug 15.

43.

Genome sequencing reveals loci under artificial selection that underlie disease phenotypes in the laboratory rat.

Atanur SS, Diaz AG, Maratou K, Sarkis A, Rotival M, Game L, Tschannen MR, Kaisaki PJ, Otto GW, Ma MC, Keane TM, Hummel O, Saar K, Chen W, Guryev V, Gopalakrishnan K, Garrett MR, Joe B, Citterio L, Bianchi G, McBride M, Dominiczak A, Adams DJ, Serikawa T, Flicek P, Cuppen E, Hubner N, Petretto E, Gauguier D, Kwitek A, Jacob H, Aitman TJ.

Cell. 2013 Aug 1;154(3):691-703. doi: 10.1016/j.cell.2013.06.040. Epub 2013 Jul 25.

44.

Isolation and high-throughput sequencing of two closely linked epistatic hypertension susceptibility loci with a panel of bicongenic strains.

Pillai R, Waghulde H, Nie Y, Gopalakrishnan K, Kumarasamy S, Farms P, Garrett MR, Atanur SS, Maratou K, Aitman TJ, Joe B.

Physiol Genomics. 2013 Aug 15;45(16):729-36. doi: 10.1152/physiolgenomics.00077.2013. Epub 2013 Jun 11.

45.

Target enrichment and high-throughput sequencing of 80 ribosomal protein genes to identify mutations associated with Diamond-Blackfan anaemia.

Gerrard G, Valgañón M, Foong HE, Kasperaviciute D, Iskander D, Game L, Müller M, Aitman TJ, Roberts I, de la Fuente J, Foroni L, Karadimitris A.

Br J Haematol. 2013 Aug;162(4):530-6. doi: 10.1111/bjh.12397. Epub 2013 May 30.

PMID:
23718193
46.

Combined sequence-based and genetic mapping analysis of complex traits in outbred rats.

Rat Genome Sequencing and Mapping Consortium, Baud A, Hermsen R, Guryev V, Stridh P, Graham D, McBride MW, Foroud T, Calderari S, Diez M, Ockinger J, Beyeen AD, Gillett A, Abdelmagid N, Guerreiro-Cacais AO, Jagodic M, Tuncel J, Norin U, Beattie E, Huynh N, Miller WH, Koller DL, Alam I, Falak S, Osborne-Pellegrin M, Martinez-Membrives E, Canete T, Blazquez G, Vicens-Costa E, Mont-Cardona C, Diaz-Moran S, Tobena A, Hummel O, Zelenika D, Saar K, Patone G, Bauerfeind A, Bihoreau MT, Heinig M, Lee YA, Rintisch C, Schulz H, Wheeler DA, Worley KC, Muzny DM, Gibbs RA, Lathrop M, Lansu N, Toonen P, Ruzius FP, de Bruijn E, Hauser H, Adams DJ, Keane T, Atanur SS, Aitman TJ, Flicek P, Malinauskas T, Jones EY, Ekman D, Lopez-Aumatell R, Dominiczak AF, Johannesson M, Holmdahl R, Olsson T, Gauguier D, Hubner N, Fernandez-Teruel A, Cuppen E, Mott R, Flint J.

Nat Genet. 2013 Jul;45(7):767-75. doi: 10.1038/ng.2644. Epub 2013 May 26.

47.

The use of next-generation sequencing in clinical diagnosis of familial hypercholesterolemia.

Vandrovcova J, Thomas ER, Atanur SS, Norsworthy PJ, Neuwirth C, Tan Y, Kasperaviciute D, Biggs J, Game L, Mueller M, Soutar AK, Aitman TJ.

Genet Med. 2013 Dec;15(12):948-57. doi: 10.1038/gim.2013.55. Epub 2013 May 16.

PMID:
23680767
48.

Systematic biases in DNA copy number originate from isolation procedures.

van Heesch S, Mokry M, Boskova V, Junker W, Mehon R, Toonen P, de Bruijn E, Shull JD, Aitman TJ, Cuppen E, Guryev V.

Genome Biol. 2013 Apr 24;14(4):R33. doi: 10.1186/gb-2013-14-4-r33.

49.

Complete cardiac regeneration in a mouse model of myocardial infarction.

Haubner BJ, Adamowicz-Brice M, Khadayate S, Tiefenthaler V, Metzler B, Aitman T, Penninger JM.

Aging (Albany NY). 2012 Dec;4(12):966-77.

50.

Combined ChIP-Seq and transcriptome analysis identifies AP-1/JunD as a primary regulator of oxidative stress and IL-1β synthesis in macrophages.

Hull RP, Srivastava PK, D'Souza Z, Atanur SS, Mechta-Grigoriou F, Game L, Petretto E, Cook HT, Aitman TJ, Behmoaras J.

BMC Genomics. 2013 Feb 11;14:92. doi: 10.1186/1471-2164-14-92.

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