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Results: 1 to 20 of 410

1.

Diagnostic Exome Sequencing to Elucidate the Genetic Basis of Likely Recessive Disorders in Consanguineous Families.

Makrythanasis P, Nelis M, Santoni FA, Guipponi M, Vannier A, Béna F, Gimelli S, Stathaki E, Temtamy S, Mégarbané A, Masri A, Aglan MS, Zaki MS, Bottani A, Fokstuen S, Gwanmesia L, Aliferis K, Bustamante Eduardo M, Stamoulis G, Psoni S, Kitsiou-Tzeli S, Fryssira H, Kanavakis E, Al-Allawi N, Sefiani A, Al Hait S, Elalaoui SC, Jalkh N, Al-Gazali L, Al-Jasmi F, Bouhamed HC, Abdalla E, Cooper DN, Hamamy H, Antonarakis SE.

Hum Mutat. 2014 Jul 17. doi: 10.1002/humu.22617. [Epub ahead of print]

PMID:
25044680
[PubMed - as supplied by publisher]
2.

Deciphering next-generation pharmacogenomics: an information technology perspective.

Potamias G, Lakiotaki K, Katsila T, Lee MT, Topouzis S, Cooper DN, Patrinos GP.

Open Biol. 2014 Jul;4(7). pii: 140071. doi: 10.1098/rsob.140071.

PMID:
25030607
[PubMed - in process]
Free PMC Article
3.

Ranking non-synonymous single nucleotide polymorphisms based on disease concepts.

Shihab HA, Gough J, Mort M, Cooper DN, Day IN, Gaunt TR.

Hum Genomics. 2014 Jun 30;8:11. doi: 10.1186/1479-7364-8-11.

PMID:
24980617
[PubMed - in process]
Free PMC Article
4.

SVA retrotransposon insertion-associated deletion represents a novel mutational mechanism underlying large genomic copy number changes with non-recurrent breakpoints.

Vogt J, Bengesser K, Claes KB, Wimmer K, Mautner VF, van Minkelen R, Legius E, Brems H, Upadhyaya M, Högel J, Lazaro C, Rosenbaum T, Bammert S, Messiaen L, Cooper DN, Kehrer-Sawatzki H.

Genome Biol. 2014 Jun 2;15(6):R80.

PMID:
24958239
[PubMed - as supplied by publisher]
5.

Genome-wide analysis of copy number variation identifies candidate gene loci associated with the progression of non-alcoholic fatty liver disease.

Zain SM, Mohamed R, Cooper DN, Razali R, Rampal S, Mahadeva S, Chan WK, Anwar A, Rosli NS, Mahfudz AS, Cheah PL, Basu RC, Mohamed Z.

PLoS One. 2014 Apr 17;9(4):e95604. doi: 10.1371/journal.pone.0095604. eCollection 2014.

PMID:
24743702
[PubMed - in process]
Free PMC Article
6.

Key challenges for next-generation pharmacogenomics: Science & Society series on Science and Drugs.

Kampourakis K, Vayena E, Mitropoulou C, van Schaik RH, Cooper DN, Borg J, Patrinos GP.

EMBO Rep. 2014 May;15(5):472-6. doi: 10.1002/embr.201438641. Epub 2014 Apr 10. No abstract available.

PMID:
24723683
[PubMed - in process]
Free Article
7.

Mechanisms of base substitution mutagenesis in cancer genomes.

Bacolla A, Cooper DN, Vasquez KM.

Genes (Basel). 2014 Mar 5;5(1):108-46. doi: 10.3390/genes5010108.

PMID:
24705290
[PubMed]
Free PMC Article
8.

MutationTaster2: mutation prediction for the deep-sequencing age.

Schwarz JM, Cooper DN, Schuelke M, Seelow D.

Nat Methods. 2014 Apr;11(4):361-2. doi: 10.1038/nmeth.2890. No abstract available.

PMID:
24681721
[PubMed - indexed for MEDLINE]
9.

Elucidating common structural features of human pathogenic variations using large-scale atomic-resolution protein networks.

Das J, Lee HR, Sagar A, Fragoza R, Liang J, Wei X, Wang X, Mort M, Stenson PD, Cooper DN, Yu H.

Hum Mutat. 2014 May;35(5):585-93. doi: 10.1002/humu.22534. Epub 2014 Apr 7.

PMID:
24599843
[PubMed - in process]
10.

N (1)-(Thio-phen-2-ylmeth-yl)-N (3),N (3)-bis-[3-(thio-phen-2-yl-methyl-ammonio)-prop-yl]propane-1,3-di-ammonium hexa-fluorido-silicate methanol tris-olvate.

Haque SA, Cooper DN, Powell DR, Venkatraman R, Hossain MA.

Acta Crystallogr Sect E Struct Rep Online. 2013 Nov 6;69(Pt 12):o1739-40. doi: 10.1107/S1600536813029565. eCollection 2013 Nov 6.

PMID:
24454197
[PubMed]
Free PMC Article
11.

MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.

Mort M, Sterne-Weiler T, Li B, Ball EV, Cooper DN, Radivojac P, Sanford JR, Mooney SD.

Genome Biol. 2014 Jan 13;15(1):R19. [Epub ahead of print]

PMID:
24451234
[PubMed - as supplied by publisher]
Free PMC Article
12.

Impact of human pathogenic micro-insertions and micro-deletions on post-transcriptional regulation.

Zhang X, Lin H, Zhao H, Hao Y, Mort M, Cooper DN, Zhou Y, Liu Y.

Hum Mol Genet. 2014 Jun 1;23(11):3024-34. doi: 10.1093/hmg/ddu019. Epub 2014 Jan 16.

PMID:
24436305
[PubMed - in process]
13.

Population-specific differences in gene conversion patterns between human SUZ12 and SUZ12P are indicative of the dynamic nature of interparalog gene conversion.

Mussotter T, Bengesser K, Högel J, Cooper DN, Kehrer-Sawatzki H.

Hum Genet. 2014 Apr;133(4):383-401. doi: 10.1007/s00439-013-1410-4. Epub 2014 Jan 3.

PMID:
24385046
[PubMed - indexed for MEDLINE]
14.

A new and more accurate estimate of the rate of concurrent tandem-base substitution mutations in the human germline: ∼0.4% of the single-nucleotide substitution mutation rate.

Chen JM, Cooper DN, Férec C.

Hum Mutat. 2014 Mar;35(3):392-4. doi: 10.1002/humu.22501. Epub 2014 Jan 16. No abstract available.

PMID:
24375656
[PubMed - in process]
15.

The emergence of the mitochondrial genome as a partial regulator of nuclear function is providing new insights into the genetic mechanisms underlying age-related complex disease.

Horan MP, Cooper DN.

Hum Genet. 2014 Apr;133(4):435-58. doi: 10.1007/s00439-013-1402-4. Epub 2013 Dec 4. Review.

PMID:
24305784
[PubMed - indexed for MEDLINE]
16.

Using exome data to identify malignant hyperthermia susceptibility mutations.

Gonsalves SG, Ng D, Johnston JJ, Teer JK, Stenson PD, Cooper DN, Mullikin JC, Biesecker LG; NISC Comparative Sequencing Program.

Anesthesiology. 2013 Nov;119(5):1043-53. doi: 10.1097/ALN.0b013e3182a8a8e7.

PMID:
24195946
[PubMed - indexed for MEDLINE]
Free Article
17.

Analysis of crossover breakpoints yields new insights into the nature of the gene conversion events associated with large NF1 deletions mediated by nonallelic homologous recombination.

Bengesser K, Vogt J, Mussotter T, Mautner VF, Messiaen L, Cooper DN, Kehrer-Sawatzki H.

Hum Mutat. 2014 Feb;35(2):215-26. doi: 10.1002/humu.22473. Epub 2013 Dec 2.

PMID:
24186807
[PubMed - indexed for MEDLINE]
18.

Guanine holes are prominent targets for mutation in cancer and inherited disease.

Bacolla A, Temiz NA, Yi M, Ivanic J, Cer RZ, Donohue DE, Ball EV, Mudunuri US, Wang G, Jain A, Volfovsky N, Luke BT, Stephens RM, Cooper DN, Collins JR, Vasquez KM.

PLoS Genet. 2013;9(9):e1003816. doi: 10.1371/journal.pgen.1003816. Epub 2013 Sep 26.

PMID:
24086153
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine.

Stenson PD, Mort M, Ball EV, Shaw K, Phillips A, Cooper DN.

Hum Genet. 2014 Jan;133(1):1-9. Review.

PMID:
24077912
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Restoration of the normal splicing pattern of the PLP1 gene by means of an antisense oligonucleotide directed against an exonic mutation.

Regis S, Corsolini F, Grossi S, Tappino B, Cooper DN, Filocamo M.

PLoS One. 2013 Sep 3;8(9):e73633. doi: 10.1371/journal.pone.0073633. eCollection 2013.

PMID:
24019930
[PubMed - indexed for MEDLINE]
Free PMC Article

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