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Results: 16

1.

Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism.

Ansari M, Poke G, Ferry Q, Williamson K, Aldridge R, Meynert AM, Bengani H, Chan CY, Kayserili H, Avci S, Hennekam RC, Lampe AK, Redeker E, Homfray T, Ross A, Falkenberg Smeland M, Mansour S, Parker MJ, Cook JA, Splitt M, Fisher RB, Fryer A, Magee AC, Wilkie A, Barnicoat A, Brady AF, Cooper NS, Mercer C, Deshpande C, Bennett CP, Pilz DT, Ruddy D, Cilliers D, Johnson DS, Josifova D, Rosser E, Thompson EM, Wakeling E, Kinning E, Stewart F, Flinter F, Girisha KM, Cox H, Firth HV, Kingston H, Wee JS, Hurst JA, Clayton-Smith J, Tolmie J, Vogt J, Tatton-Brown K, Chandler K, Prescott K, Wilson L, Behnam M, McEntagart M, Davidson R, Lynch SA, Sisodiya S, Mehta SG, McKee SA, Mohammed S, Holden S, Park SM, Holder SE, Harrison V, McConnell V, Lam WK, Green AJ, Donnai D, Bitner-Glindzicz M, Donnelly DE, Nellåker C, Taylor MS, FitzPatrick DR.

J Med Genet. 2014 Oct;51(10):659-68. doi: 10.1136/jmedgenet-2014-102573. Epub 2014 Aug 14.

PMID:
25125236
[PubMed - in process]
Free Article
2.

Diagnostically relevant facial gestalt information from ordinary photos.

Ferry Q, Steinberg J, Webber C, FitzPatrick DR, Ponting CP, Zisserman A, Nellåker C.

Elife. 2014 Jun 24;3:e02020. doi: 10.7554/eLife.02020.

PMID:
24963138
[PubMed - in process]
Free PMC Article
3.

Transcriptional derepression of the ERVWE1 locus following influenza A virus infection.

Li F, Nellåker C, Sabunciyan S, Yolken RH, Jones-Brando L, Johansson AS, Owe-Larsson B, Karlsson H.

J Virol. 2014 Apr;88(8):4328-37. doi: 10.1128/JVI.03628-13. Epub 2014 Jan 29.

PMID:
24478419
[PubMed - indexed for MEDLINE]
4.

The genomic landscape shaped by selection on transposable elements across 18 mouse strains.

Nellåker C, Keane TM, Yalcin B, Wong K, Agam A, Belgard TG, Flint J, Adams DJ, Frankel WN, Ponting CP.

Genome Biol. 2012 Jun 15;13(6):R45. doi: 10.1186/gb-2012-13-6-r45.

PMID:
22703977
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

High levels of RNA-editing site conservation amongst 15 laboratory mouse strains.

Danecek P, Nellåker C, McIntyre RE, Buendia-Buendia JE, Bumpstead S, Ponting CP, Flint J, Durbin R, Keane TM, Adams DJ.

Genome Biol. 2012 Apr 23;13(4):26. doi: 10.1186/gb-2012-13-4-r26.

PMID:
22524474
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Sequence-based characterization of structural variation in the mouse genome.

Yalcin B, Wong K, Agam A, Goodson M, Keane TM, Gan X, Nellåker C, Goodstadt L, Nicod J, Bhomra A, Hernandez-Pliego P, Whitley H, Cleak J, Dutton R, Janowitz D, Mott R, Adams DJ, Flint J.

Nature. 2011 Sep 14;477(7364):326-9. doi: 10.1038/nature10432.

PMID:
21921916
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

Mouse genomic variation and its effect on phenotypes and gene regulation.

Keane TM, Goodstadt L, Danecek P, White MA, Wong K, Yalcin B, Heger A, Agam A, Slater G, Goodson M, Furlotte NA, Eskin E, Nellåker C, Whitley H, Cleak J, Janowitz D, Hernandez-Pliego P, Edwards A, Belgard TG, Oliver PL, McIntyre RE, Bhomra A, Nicod J, Gan X, Yuan W, van der Weyden L, Steward CA, Bala S, Stalker J, Mott R, Durbin R, Jackson IJ, Czechanski A, Guerra-Assunção JA, Donahue LR, Reinholdt LG, Payseur BA, Ponting CP, Birney E, Flint J, Adams DJ.

Nature. 2011 Sep 14;477(7364):289-94. doi: 10.1038/nature10413.

PMID:
21921910
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

Rapid turnover of functional sequence in human and other genomes.

Ponting CP, Nellåker C, Meader S.

Annu Rev Genomics Hum Genet. 2011;12:275-99. doi: 10.1146/annurev-genom-090810-183115. Review.

PMID:
21721940
[PubMed - indexed for MEDLINE]
9.

A systematic evaluation of expression of HERV-W elements; influence of genomic context, viral structure and orientation.

Li F, Nellåker C, Yolken RH, Karlsson H.

BMC Genomics. 2011 Jan 12;12:22. doi: 10.1186/1471-2164-12-22.

PMID:
21226900
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

Expression profiling of repetitive elements by melting temperature analysis: variation in HERV-W gag expression across human individuals and tissues.

Nellåker C, Li F, Uhrzander F, Tyrcha J, Karlsson H.

BMC Genomics. 2009 Nov 17;10:532. doi: 10.1186/1471-2164-10-532.

PMID:
19919688
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

Mixture models for analysis of melting temperature data.

Nellåker C, Uhrzander F, Tyrcha J, Karlsson H.

BMC Bioinformatics. 2008 Sep 11;9:370. doi: 10.1186/1471-2105-9-370.

PMID:
18786251
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

Elevated levels of human endogenous retrovirus-W transcripts in blood cells from patients with first episode schizophrenia.

Yao Y, Schröder J, Nellåker C, Bottmer C, Bachmann S, Yolken RH, Karlsson H.

Genes Brain Behav. 2008 Feb;7(1):103-12. Epub 2007 Jun 7.

PMID:
17559415
[PubMed - indexed for MEDLINE]
13.

Influenza A virus transactivates the mouse envelope gene encoding syncytin B and its regulator, glial cells missing 1.

Asp L, Nellåker C, Karlsson H.

J Neurovirol. 2007;13(1):29-37.

PMID:
17454446
[PubMed - indexed for MEDLINE]
14.

Molecular beacon-based temperature control and automated analyses for improved resolution of melting temperature analysis using SYBR I green chemistry.

Nellåker C, Wållgren U, Karlsson H.

Clin Chem. 2007 Jan;53(1):98-103. Epub 2006 Nov 16.

PMID:
17110472
[PubMed - indexed for MEDLINE]
Free Article
15.

Transactivation of elements in the human endogenous retrovirus W family by viral infection.

Nellåker C, Yao Y, Jones-Brando L, Mallet F, Yolken RH, Karlsson H.

Retrovirology. 2006 Jul 6;3:44.

PMID:
16822326
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

Evaluation of minor groove binding probe and Taqman probe PCR assays: Influence of mismatches and template complexity on quantification.

Yao Y, Nellåker C, Karlsson H.

Mol Cell Probes. 2006 Oct;20(5):311-6. Epub 2006 Apr 21.

PMID:
16704921
[PubMed - indexed for MEDLINE]

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