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Items: 28

1.

Phenotypic and transcriptomic characterization of canine myeloid-derived suppressor cells.

Goulart MR, Hlavaty SI, Chang YM, Polton G, Stell A, Perry J, Wu Y, Sharma E, Broxholme J, Lee AC, Szladovits B, Turmaine M, Gribben J, Xia D, Garden OA.

Sci Rep. 2019 Mar 5;9(1):3574. doi: 10.1038/s41598-019-40285-3.

2.

Impact of spliceosome mutations on RNA splicing in myelodysplasia: dysregulated genes/pathways and clinical associations.

Pellagatti A, Armstrong RN, Steeples V, Sharma E, Repapi E, Singh S, Sanchi A, Radujkovic A, Horn P, Dolatshad H, Roy S, Broxholme J, Lockstone H, Taylor S, Giagounidis A, Vyas P, Schuh A, Hamblin A, Papaemmanuil E, Killick S, Malcovati L, Hennrich ML, Gavin AC, Ho AD, Luft T, Hellström-Lindberg E, Cazzola M, Smith CWJ, Smith S, Boultwood J.

Blood. 2018 Sep 20;132(12):1225-1240. doi: 10.1182/blood-2018-04-843771. Epub 2018 Jun 21.

3.

A practical solution for preserving single cells for RNA sequencing.

Attar M, Sharma E, Li S, Bryer C, Cubitt L, Broxholme J, Lockstone H, Kinchen J, Simmons A, Piazza P, Buck D, Livak KJ, Bowden R.

Sci Rep. 2018 Feb 1;8(1):2151. doi: 10.1038/s41598-018-20372-7.

4.

The nature and nurture of cell heterogeneity: accounting for macrophage gene-environment interactions with single-cell RNA-Seq.

Wills QF, Mellado-Gomez E, Nolan R, Warner D, Sharma E, Broxholme J, Wright B, Lockstone H, James W, Lynch M, Gonzales M, West J, Leyrat A, Padilla-Parra S, Filippi S, Holmes C, Moore MD, Bowden R.

BMC Genomics. 2017 Jan 7;18(1):53. doi: 10.1186/s12864-016-3445-0.

5.

Factors influencing success of clinical genome sequencing across a broad spectrum of disorders.

Taylor JC, Martin HC, Lise S, Broxholme J, Cazier JB, Rimmer A, Kanapin A, Lunter G, Fiddy S, Allan C, Aricescu AR, Attar M, Babbs C, Becq J, Beeson D, Bento C, Bignell P, Blair E, Buckle VJ, Bull K, Cais O, Cario H, Chapel H, Copley RR, Cornall R, Craft J, Dahan K, Davenport EE, Dendrou C, Devuyst O, Fenwick AL, Flint J, Fugger L, Gilbert RD, Goriely A, Green A, Greger IH, Grocock R, Gruszczyk AV, Hastings R, Hatton E, Higgs D, Hill A, Holmes C, Howard M, Hughes L, Humburg P, Johnson D, Karpe F, Kingsbury Z, Kini U, Knight JC, Krohn J, Lamble S, Langman C, Lonie L, Luck J, McCarthy D, McGowan SJ, McMullin MF, Miller KA, Murray L, Németh AH, Nesbit MA, Nutt D, Ormondroyd E, Oturai AB, Pagnamenta A, Patel SY, Percy M, Petousi N, Piazza P, Piret SE, Polanco-Echeverry G, Popitsch N, Powrie F, Pugh C, Quek L, Robbins PA, Robson K, Russo A, Sahgal N, van Schouwenburg PA, Schuh A, Silverman E, Simmons A, Sørensen PS, Sweeney E, Taylor J, Thakker RV, Tomlinson I, Trebes A, Twigg SR, Uhlig HH, Vyas P, Vyse T, Wall SA, Watkins H, Whyte MP, Witty L, Wright B, Yau C, Buck D, Humphray S, Ratcliffe PJ, Bell JI, Wilkie AO, Bentley D, Donnelly P, McVean G.

Nat Genet. 2015 Jul;47(7):717-726. doi: 10.1038/ng.3304. Epub 2015 May 18.

6.

Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis.

Martin HC, Kim GE, Pagnamenta AT, Murakami Y, Carvill GL, Meyer E, Copley RR, Rimmer A, Barcia G, Fleming MR, Kronengold J, Brown MR, Hudspith KA, Broxholme J, Kanapin A, Cazier JB, Kinoshita T, Nabbout R; WGS500 Consortium, Bentley D, McVean G, Heavin S, Zaiwalla Z, McShane T, Mefford HC, Shears D, Stewart H, Kurian MA, Scheffer IE, Blair E, Donnelly P, Kaczmarek LK, Taylor JC.

Hum Mol Genet. 2014 Jun 15;23(12):3200-11. doi: 10.1093/hmg/ddu030. Epub 2014 Jan 25.

7.

Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis.

Sharma VP, Fenwick AL, Brockop MS, McGowan SJ, Goos JA, Hoogeboom AJ, Brady AF, Jeelani NO, Lynch SA, Mulliken JB, Murray DJ, Phipps JM, Sweeney E, Tomkins SE, Wilson LC, Bennett S, Cornall RJ, Broxholme J, Kanapin A; 500 Whole-Genome Sequences (WGS500) Consortium, Johnson D, Wall SA, van der Spek PJ, Mathijssen IM, Maxson RE, Twigg SR, Wilkie AO.

Nat Genet. 2013 Mar;45(3):304-7. doi: 10.1038/ng.2531. Epub 2013 Jan 27. Erratum in: Nat Genet. 2013 Oct;45(10):1261.

8.

Next-generation sequencing (NGS) as a diagnostic tool for retinal degeneration reveals a much higher detection rate in early-onset disease.

Shanks ME, Downes SM, Copley RR, Lise S, Broxholme J, Hudspith KA, Kwasniewska A, Davies WI, Hankins MW, Packham ER, Clouston P, Seller A, Wilkie AO, Taylor JC, Ragoussis J, Németh AH.

Eur J Hum Genet. 2013 Mar;21(3):274-80. doi: 10.1038/ejhg.2012.172. Epub 2012 Sep 12. Erratum in: Eur J Hum Genet. 2013 Sep;21(9):1031.

9.

GREVE: Genomic Recurrent Event ViEwer to assist the identification of patterns across individual cancer samples.

Cazier JB, Holmes CC, Broxholme J.

Bioinformatics. 2012 Nov 15;28(22):2981-2. doi: 10.1093/bioinformatics/bts547. Epub 2012 Sep 8.

10.

A fine-scale chimpanzee genetic map from population sequencing.

Auton A, Fledel-Alon A, Pfeifer S, Venn O, Ségurel L, Street T, Leffler EM, Bowden R, Aneas I, Broxholme J, Humburg P, Iqbal Z, Lunter G, Maller J, Hernandez RD, Melton C, Venkat A, Nobrega MA, Bontrop R, Myers S, Donnelly P, Przeworski M, McVean G.

Science. 2012 Apr 13;336(6078):193-8. doi: 10.1126/science.1216872. Epub 2012 Mar 15.

11.

Coexpression network analysis in abdominal and gluteal adipose tissue reveals regulatory genetic loci for metabolic syndrome and related phenotypes.

Min JL, Nicholson G, Halgrimsdottir I, Almstrup K, Petri A, Barrett A, Travers M, Rayner NW, Mägi R, Pettersson FH, Broxholme J, Neville MJ, Wills QF, Cheeseman J; GIANT Consortium; MolPAGE Consortium, Allen M, Holmes CC, Spector TD, Fleckner J, McCarthy MI, Karpe F, Lindgren CM, Zondervan KT.

PLoS Genet. 2012;8(2):e1002505. doi: 10.1371/journal.pgen.1002505. Epub 2012 Feb 23.

12.

The use of genome-wide eQTL associations in lymphoblastoid cell lines to identify novel genetic pathways involved in complex traits.

Min JL, Taylor JM, Richards JB, Watts T, Pettersson FH, Broxholme J, Ahmadi KR, Surdulescu GL, Lowy E, Gieger C, Newton-Cheh C, Perola M, Soranzo N, Surakka I, Lindgren CM, Ragoussis J, Morris AP, Cardon LR, Spector TD, Zondervan KT.

PLoS One. 2011;6(7):e22070. doi: 10.1371/journal.pone.0022070. Epub 2011 Jul 15.

13.

Pervasive haplotypic variation in the spliceo-transcriptome of the human major histocompatibility complex.

Vandiedonck C, Taylor MS, Lockstone HE, Plant K, Taylor JM, Durrant C, Broxholme J, Fairfax BP, Knight JC.

Genome Res. 2011 Jul;21(7):1042-54. doi: 10.1101/gr.116681.110. Epub 2011 May 31.

14.

GLIDERS--a web-based search engine for genome-wide linkage disequilibrium between HapMap SNPs.

Lawrence R, Day-Williams AG, Mott R, Broxholme J, Cardon LR, Zeggini E.

BMC Bioinformatics. 2009 Oct 31;10:367. doi: 10.1186/1471-2105-10-367.

15.

Host genetic factors and vaccine-induced immunity to hepatitis B virus infection.

Hennig BJ, Fielding K, Broxholme J, Diatta M, Mendy M, Moore C, Pollard AJ, Rayco-Solon P, Sirugo G, van der Sande MA, Waight P, Whittle HC, Zaman SM, Hill AV, Hall AJ.

PLoS One. 2008 Mar 26;3(3):e1898. doi: 10.1371/journal.pone.0001898. Erratum in: PLoS One. 2011;6(2). doi: 10.1371/annotation/0d903d46-1104-43b8-ae6b-4f2343bb3357.

16.

Estimating the number of coding mutations in genotypic and phenotypic driven N-ethyl-N-nitrosourea (ENU) screens: revisited.

Keays DA, Clark TG, Campbell TG, Broxholme J, Valdar W.

Mamm Genome. 2007 Feb;18(2):123-4. Epub 2007 Mar 8.

PMID:
17347895
17.

Missense mutation in sterile alpha motif of novel protein SamCystin is associated with polycystic kidney disease in (cy/+) rat.

Brown JH, Bihoreau MT, Hoffmann S, Kränzlin B, Tychinskaya I, Obermüller N, Podlich D, Boehn SN, Kaisaki PJ, Megel N, Danoy P, Copley RR, Broxholme J, Witzgall R, Lathrop M, Gretz N, Gauguier D.

J Am Soc Nephrol. 2005 Dec;16(12):3517-26. Epub 2005 Oct 5.

18.

A comparison of tagging methods and their tagging space.

Ke X, Miretti MM, Broxholme J, Hunt S, Beck S, Bentley DR, Deloukas P, Cardon LR.

Hum Mol Genet. 2005 Sep 15;14(18):2757-67. Epub 2005 Aug 15.

PMID:
16103130
19.

SW-ARRAY: a dynamic programming solution for the identification of copy-number changes in genomic DNA using array comparative genome hybridization data.

Price TS, Regan R, Mott R, Hedman A, Honey B, Daniels RJ, Smith L, Greenfield A, Tiganescu A, Buckle V, Ventress N, Ayyub H, Salhan A, Pedraza-Diaz S, Broxholme J, Ragoussis J, Higgs DR, Flint J, Knight SJ.

Nucleic Acids Res. 2005 Jun 16;33(11):3455-64. Print 2005.

20.

Analysis of IMGSAC autism susceptibility loci: evidence for sex limited and parent of origin specific effects.

Lamb JA, Barnby G, Bonora E, Sykes N, Bacchelli E, Blasi F, Maestrini E, Broxholme J, Tzenova J, Weeks D, Bailey AJ, Monaco AP; International Molecular Genetic Study of Autism Consortium (IMGSAC).

J Med Genet. 2005 Feb;42(2):132-7.

21.

Positional cloning of a novel gene influencing asthma from chromosome 2q14.

Allen M, Heinzmann A, Noguchi E, Abecasis G, Broxholme J, Ponting CP, Bhattacharyya S, Tinsley J, Zhang Y, Holt R, Jones EY, Lench N, Carey A, Jones H, Dickens NJ, Dimon C, Nicholls R, Baker C, Xue L, Townsend E, Kabesch M, Weiland SK, Carr D, von Mutius E, Adcock IM, Barnes PJ, Lathrop GM, Edwards M, Moffatt MF, Cookson WO.

Nat Genet. 2003 Nov;35(3):258-63. Epub 2003 Oct 19.

PMID:
14566338
22.

LD mapping of maternally and non-maternally derived alleles and atopy in FcepsilonRI-beta.

Traherne JA, Hill MR, Hysi P, D'Amato M, Broxholme J, Mott R, Moffatt MF, Cookson WO.

Hum Mol Genet. 2003 Oct 15;12(20):2577-85. Epub 2003 Aug 27.

PMID:
12944417
23.

Positional cloning of a quantitative trait locus on chromosome 13q14 that influences immunoglobulin E levels and asthma.

Zhang Y, Leaves NI, Anderson GG, Ponting CP, Broxholme J, Holt R, Edser P, Bhattacharyya S, Dunham A, Adcock IM, Pulleyn L, Barnes PJ, Harper JI, Abecasis G, Cardon L, White M, Burton J, Matthews L, Mott R, Ross M, Cox R, Moffatt MF, Cookson WO.

Nat Genet. 2003 Jun;34(2):181-6.

24.

Chromosome-wide distribution of haplotype blocks and the role of recombination hot spots.

Phillips MS, Lawrence R, Sachidanandam R, Morris AP, Balding DJ, Donaldson MA, Studebaker JF, Ankener WM, Alfisi SV, Kuo FS, Camisa AL, Pazorov V, Scott KE, Carey BJ, Faith J, Katari G, Bhatti HA, Cyr JM, Derohannessian V, Elosua C, Forman AM, Grecco NM, Hock CR, Kuebler JM, Lathrop JA, Mockler MA, Nachtman EP, Restine SL, Varde SA, Hozza MJ, Gelfand CA, Broxholme J, Abecasis GR, Boyce-Jacino MT, Cardon LR.

Nat Genet. 2003 Mar;33(3):382-7. Epub 2003 Feb 18.

PMID:
12590262
25.

Autosomal dominant familial calcium pyrophosphate dihydrate deposition disease is caused by mutation in the transmembrane protein ANKH.

Williams CJ, Zhang Y, Timms A, Bonavita G, Caeiro F, Broxholme J, Cuthbertson J, Jones Y, Marchegiani R, Reginato A, Russell RG, Wordsworth BP, Carr AJ, Brown MA.

Am J Hum Genet. 2002 Oct;71(4):985-91. Epub 2002 Sep 17.

26.

Characterization of a major modifier locus for polycystic kidney disease (Modpkdr1) in the Han:SPRD(cy/+) rat in a region conserved with a mouse modifier locus for Alport syndrome.

Bihoreau MT, Megel N, Brown JH, Kränzlin B, Crombez L, Tychinskaya Y, Broxholme J, Kratz S, Bergmann V, Hoffman S, Gauguier D, Gretz N.

Hum Mol Genet. 2002 Sep 1;11(18):2165-73.

PMID:
12189169
27.

Positive association to IgE levels and a physical map of the 13q14 atopy locus.

Anderson GG, Leaves NI, Bhattacharyya S, Zhang Y, Walshe V, Broxholme J, Abecasis G, Levy E, Zimmer M, Cox R, Cookson WO.

Eur J Hum Genet. 2002 Apr;10(4):266-70.

28.

Mutations in the gamma(2) subunit of AMP-activated protein kinase cause familial hypertrophic cardiomyopathy: evidence for the central role of energy compromise in disease pathogenesis.

Blair E, Redwood C, Ashrafian H, Oliveira M, Broxholme J, Kerr B, Salmon A, Ostman-Smith I, Watkins H.

Hum Mol Genet. 2001 May 15;10(11):1215-20.

PMID:
11371514

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