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Items: 18

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.

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.

3.

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.

4.

Mutational landscape of a chemically-induced mouse model of liver cancer.

Connor F, Rayner TF, Aitken SJ, Feig C, Lukk M, Santoyo-Lopez J, Odom DT.

J Hepatol. 2018 Oct;69(4):840-850. doi: 10.1016/j.jhep.2018.06.009. Epub 2018 Jun 26.

5.

Extension of human lncRNA transcripts by RACE coupled with long-read high-throughput sequencing (RACE-Seq).

Lagarde J, Uszczynska-Ratajczak B, Santoyo-Lopez J, Gonzalez JM, Tapanari E, Mudge JM, Steward CA, Wilming L, Tanzer A, Howald C, Chrast J, Vela-Boza A, Rueda A, Lopez-Domingo FJ, Dopazo J, Reymond A, Guigó R, Harrow J.

Nat Commun. 2016 Aug 17;7:12339. doi: 10.1038/ncomms12339.

6.

PAX4 preserves endoplasmic reticulum integrity preventing beta cell degeneration in a mouse model of type 1 diabetes mellitus.

Mellado-Gil JM, Jiménez-Moreno CM, Martin-Montalvo A, Alvarez-Mercado AI, Fuente-Martin E, Cobo-Vuilleumier N, Lorenzo PI, Bru-Tari E, Herrera-Gómez Ide G, López-Noriega L, Pérez-Florido J, Santoyo-López J, Spyrantis A, Meda P, Boehm BO, Quesada I, Gauthier BR.

Diabetologia. 2016 Apr;59(4):755-65. doi: 10.1007/s00125-016-3864-0. Epub 2016 Jan 26.

7.

267 Spanish Exomes Reveal Population-Specific Differences in Disease-Related Genetic Variation.

Dopazo J, Amadoz A, Bleda M, Garcia-Alonso L, Alemán A, García-García F, Rodriguez JA, Daub JT, Muntané G, Rueda A, Vela-Boza A, López-Domingo FJ, Florido JP, Arce P, Ruiz-Ferrer M, Méndez-Vidal C, Arnold TE, Spleiss O, Alvarez-Tejado M, Navarro A, Bhattacharya SS, Borrego S, Santoyo-López J, Antiñolo G.

Mol Biol Evol. 2016 May;33(5):1205-18. doi: 10.1093/molbev/msw005. Epub 2016 Jan 13.

8.

The role of the interactome in the maintenance of deleterious variability in human populations.

Garcia-Alonso L, Jiménez-Almazán J, Carbonell-Caballero J, Vela-Boza A, Santoyo-López J, Antiñolo G, Dopazo J.

Mol Syst Biol. 2014 Sep 26;10:752. doi: 10.15252/msb.20145222.

9.

Assessing technical performance in differential gene expression experiments with external spike-in RNA control ratio mixtures.

Munro SA, Lund SP, Pine PS, Binder H, Clevert DA, Conesa A, Dopazo J, Fasold M, Hochreiter S, Hong H, Jafari N, Kreil DP, Łabaj PP, Li S, Liao Y, Lin SM, Meehan J, Mason CE, Santoyo-Lopez J, Setterquist RA, Shi L, Shi W, Smyth GK, Stralis-Pavese N, Su Z, Tong W, Wang C, Wang J, Xu J, Ye Z, Yang Y, Yu Y, Salit M.

Nat Commun. 2014 Sep 25;5:5125. doi: 10.1038/ncomms6125.

PMID:
25254650
10.

poRe: an R package for the visualization and analysis of nanopore sequencing data.

Watson M, Thomson M, Risse J, Talbot R, Santoyo-Lopez J, Gharbi K, Blaxter M.

Bioinformatics. 2015 Jan 1;31(1):114-5. doi: 10.1093/bioinformatics/btu590. Epub 2014 Aug 29.

11.

Deciphering intrafamilial phenotypic variability by exome sequencing in a Bardet-Biedl family.

González-Del Pozo M, Méndez-Vidal C, Santoyo-Lopez J, Vela-Boza A, Bravo-Gil N, Rueda A, García-Alonso L, Vázquez-Marouschek C, Dopazo J, Borrego S, Antiñolo G.

Mol Genet Genomic Med. 2014 Mar;2(2):124-33. doi: 10.1002/mgg3.50. Epub 2013 Dec 3.

12.

ngsCAT: a tool to assess the efficiency of targeted enrichment sequencing.

López-Domingo FJ, Florido JP, Rueda A, Dopazo J, Santoyo-Lopez J.

Bioinformatics. 2014 Jun 15;30(12):1767-8. doi: 10.1093/bioinformatics/btu108. Epub 2014 Feb 26.

PMID:
24578402
13.

Whole-exome sequencing identifies novel compound heterozygous mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa.

Méndez-Vidal C, González-Del Pozo M, Vela-Boza A, Santoyo-López J, López-Domingo FJ, Vázquez-Marouschek C, Dopazo J, Borrego S, Antiñolo G.

Mol Vis. 2013 Nov 7;19:2187-95. eCollection 2013.

14.

Initial genomics of the human nucleolus.

Németh A, Conesa A, Santoyo-Lopez J, Medina I, Montaner D, Péterfia B, Solovei I, Cremer T, Dopazo J, Längst G.

PLoS Genet. 2010 Mar 26;6(3):e1000889. doi: 10.1371/journal.pgen.1000889.

15.

Statistical methods for analysis of high-throughput RNA interference screens.

Birmingham A, Selfors LM, Forster T, Wrobel D, Kennedy CJ, Shanks E, Santoyo-Lopez J, Dunican DJ, Long A, Kelleher D, Smith Q, Beijersbergen RL, Ghazal P, Shamu CE.

Nat Methods. 2009 Aug;6(8):569-75. doi: 10.1038/nmeth.1351. Review.

16.

Modeling and managing experimental data using FuGE.

Jones AR, Lister AL, Hermida L, Wilkinson P, Eisenacher M, Belhajjame K, Gibson F, Lord P, Pocock M, Rosenfelder H, Santoyo-Lopez J, Wipat A, Paton NW.

OMICS. 2009 Jun;13(3):239-51. doi: 10.1089/omi.2008.0080.

PMID:
19441879
17.

Promoting coherent minimum reporting guidelines for biological and biomedical investigations: the MIBBI project.

Taylor CF, Field D, Sansone SA, Aerts J, Apweiler R, Ashburner M, Ball CA, Binz PA, Bogue M, Booth T, Brazma A, Brinkman RR, Michael Clark A, Deutsch EW, Fiehn O, Fostel J, Ghazal P, Gibson F, Gray T, Grimes G, Hancock JM, Hardy NW, Hermjakob H, Julian RK Jr, Kane M, Kettner C, Kinsinger C, Kolker E, Kuiper M, Le Novère N, Leebens-Mack J, Lewis SE, Lord P, Mallon AM, Marthandan N, Masuya H, McNally R, Mehrle A, Morrison N, Orchard S, Quackenbush J, Reecy JM, Robertson DG, Rocca-Serra P, Rodriguez H, Rosenfelder H, Santoyo-Lopez J, Scheuermann RH, Schober D, Smith B, Snape J, Stoeckert CJ Jr, Tipton K, Sterk P, Untergasser A, Vandesompele J, Wiemann S.

Nat Biotechnol. 2008 Aug;26(8):889-96. doi: 10.1038/nbt.1411. No abstract available.

18.

Discrete clusters of virus-encoded micrornas are associated with complementary strands of the genome and the 7.2-kilobase stable intron in murine cytomegalovirus.

Buck AH, Santoyo-Lopez J, Robertson KA, Kumar DS, Reczko M, Ghazal P.

J Virol. 2007 Dec;81(24):13761-70. Epub 2007 Oct 10.

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