Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Results: 1 to 20 of 23

1.

Erythrocytosis associated with a novel missense mutation in the BPGM gene.

Petousi N, Copley RR, Lappin TR, Haggan SE, Bento CM, Cario H, Percy MJ; WGS Consortium, Ratcliffe PJ, Robbins PA, McMullin MF.

Haematologica. 2014 Oct;99(10):e201-4. doi: 10.3324/haematol.2014.109306. Epub 2014 Jul 11. No abstract available.

PMID:
25015942
[PubMed - in process]
Free PMC Article
2.

Whole-genome sequencing of bladder cancers reveals somatic CDKN1A mutations and clinicopathological associations with mutation burden.

Cazier JB, Rao SR, McLean CM, Walker AL, Wright BJ, Jaeger EE, Kartsonaki C, Marsden L, Yau C, Camps C, Kaisaki P; Oxford-Illumina WGS500 Consortium, Taylor J, Catto JW, Tomlinson IP, Kiltie AE, Hamdy FC.

Nat Commun. 2014 Apr 29;5:3756. doi: 10.1038/ncomms4756.

PMID:
24777035
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 gene.

Conti V, Carabalona A, Pallesi-Pocachard E, Parrini E, Leventer RJ, Buhler E, McGillivray G, Michel FJ, Striano P, Mei D, Watrin F, Lise S, Pagnamenta AT, Taylor JC, Kini U, Clayton-Smith J, Novara F, Zuffardi O, Dobyns WB, Scheffer IE, Robertson SP, Berkovic SF, Represa A, Keays DA, Cardoso C, Guerrini R.

Brain. 2013 Nov;136(Pt 11):3378-94. doi: 10.1093/brain/awt249. Epub 2013 Sep 20.

PMID:
24056535
[PubMed - indexed for MEDLINE]
Free Article
4.

Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model.

Németh AH, Kwasniewska AC, Lise S, Parolin Schnekenberg R, Becker EB, Bera KD, Shanks ME, Gregory L, Buck D, Zameel Cader M, Talbot K, de Silva R, Fletcher N, Hastings R, Jayawant S, Morrison PJ, Worth P, Taylor M, Tolmie J, O'Regan M; UK Ataxia Consortium, Valentine R, Packham E, Evans J, Seller A, Ragoussis J.

Brain. 2013 Oct;136(Pt 10):3106-18. doi: 10.1093/brain/awt236. Epub 2013 Sep 11.

PMID:
24030952
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

Homozygous mutations in a predicted endonuclease are a novel cause of congenital dyserythropoietic anemia type I.

Babbs C, Roberts NA, Sanchez-Pulido L, McGowan SJ, Ahmed MR, Brown JM, Sabry MA; WGS500 Consortium, Bentley DR, McVean GA, Donnelly P, Gileadi O, Ponting CP, Higgs DR, Buckle VJ.

Haematologica. 2013 Sep;98(9):1383-7. doi: 10.3324/haematol.2013.089490. Epub 2013 May 28.

PMID:
23716552
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Congenital myasthenic syndromes due to mutations in ALG2 and ALG14.

Cossins J, Belaya K, Hicks D, Salih MA, Finlayson S, Carboni N, Liu WW, Maxwell S, Zoltowska K, Farsani GT, Laval S, Seidhamed MZ; WGS500 Consortium, Donnelly P, Bentley D, McGowan SJ, Müller J, Palace J, Lochmüller H, Beeson D.

Brain. 2013 Mar;136(Pt 3):944-56. doi: 10.1093/brain/awt010. Epub 2013 Feb 11.

PMID:
23404334
[PubMed - indexed for MEDLINE]
Free PMC Article
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.

PMID:
23354436
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

Recessive mutations in SPTBN2 implicate β-III spectrin in both cognitive and motor development.

Lise S, Clarkson Y, Perkins E, Kwasniewska A, Sadighi Akha E, Schnekenberg RP, Suminaite D, Hope J, Baker I, Gregory L, Green A, Allan C, Lamble S, Jayawant S, Quaghebeur G, Cader MZ, Hughes S, Armstrong RJ, Kanapin A, Rimmer A, Lunter G, Mathieson I, Cazier JB, Buck D, Taylor JC, Bentley D, McVean G, Donnelly P, Knight SJ, Jackson M, Ragoussis J, Németh AH.

PLoS Genet. 2012;8(12):e1003074. doi: 10.1371/journal.pgen.1003074. Epub 2012 Dec 6.

PMID:
23236289
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

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.

PMID:
22968130
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

Next-generation sequencing in health-care delivery: lessons from the functional analysis of rhodopsin.

Davies WI, Downes SM, Fu JK, Shanks ME, Copley RR, Lise S, Ramsden SC, Black GC, Gibson K, Foster RG, Hankins MW, Németh AH.

Genet Med. 2012 Nov;14(11):891-9. doi: 10.1038/gim.2012.73. Epub 2012 Jul 12.

PMID:
22791210
[PubMed - indexed for MEDLINE]
11.

PepSite: prediction of peptide-binding sites from protein surfaces.

Trabuco LG, Lise S, Petsalaki E, Russell RB.

Nucleic Acids Res. 2012 Jul;40(Web Server issue):W423-7. doi: 10.1093/nar/gks398. Epub 2012 May 16.

PMID:
22600738
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

Exome sequencing can detect pathogenic mosaic mutations present at low allele frequencies.

Pagnamenta AT, Lise S, Harrison V, Stewart H, Jayawant S, Quaghebeur G, Deng AT, Murphy VE, Sadighi Akha E, Rimmer A, Mathieson I, Knight SJ, Kini U, Taylor JC, Keays DA.

J Hum Genet. 2012 Jan;57(1):70-2. doi: 10.1038/jhg.2011.128. Epub 2011 Dec 1.

PMID:
22129557
[PubMed - indexed for MEDLINE]
13.

Predictions of hot spot residues at protein-protein interfaces using support vector machines.

Lise S, Buchan D, Pontil M, Jones DT.

PLoS One. 2011 Feb 28;6(2):e16774. doi: 10.1371/journal.pone.0016774.

PMID:
21386962
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

Prediction of hot spot residues at protein-protein interfaces by combining machine learning and energy-based methods.

Lise S, Archambeau C, Pontil M, Jones DT.

BMC Bioinformatics. 2009 Oct 30;10:365. doi: 10.1186/1471-2105-10-365.

PMID:
19878545
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

Docking protein domains in contact space.

Lise S, Walker-Taylor A, Jones DT.

BMC Bioinformatics. 2006 Jun 21;7:310.

PMID:
16790041
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

The CATH Domain Structure Database and related resources Gene3D and DHS provide comprehensive domain family information for genome analysis.

Pearl F, Todd A, Sillitoe I, Dibley M, Redfern O, Lewis T, Bennett C, Marsden R, Grant A, Lee D, Akpor A, Maibaum M, Harrison A, Dallman T, Reeves G, Diboun I, Addou S, Lise S, Johnston C, Sillero A, Thornton J, Orengo C.

Nucleic Acids Res. 2005 Jan 1;33(Database issue):D247-51.

PMID:
15608188
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

Sequence patterns associated with disordered regions in proteins.

Lise S, Jones DT.

Proteins. 2005 Jan 1;58(1):144-50.

PMID:
15476208
[PubMed - indexed for MEDLINE]
18.

Nonconservative earthquake model of self-organized criticality on a random graph.

Lise S, Paczuski M.

Phys Rev Lett. 2002 Jun 3;88(22):228301. Epub 2002 May 16.

PMID:
12059457
[PubMed]
19.

Scaling in a nonconservative earthquake model of self-organized criticality.

Lise S, Paczuski M.

Phys Rev E Stat Nonlin Soft Matter Phys. 2001 Oct;64(4 Pt 2):046111. Epub 2001 Sep 21.

PMID:
11690094
[PubMed]
20.

Comment on "Self-organized criticality in the Olami-Feder-Christensen model".

Christensen K, Hamon D, Jensen HJ, Lise S.

Phys Rev Lett. 2001 Jul 16;87(3):039801. Epub 2001 Jun 28. No abstract available.

PMID:
11461601
[PubMed]

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Loading ...
Write to the Help Desk