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Results: 1 to 20 of 137

Similar articles for PubMed (Select 23341771)

1.

Predicting mendelian disease-causing non-synonymous single nucleotide variants in exome sequencing studies.

Li MX, Kwan JS, Bao SY, Yang W, Ho SL, Song YQ, Sham PC.

PLoS Genet. 2013;9(1):e1003143. doi: 10.1371/journal.pgen.1003143. Epub 2013 Jan 17.

2.

High diagnostic yield of clinical exome sequencing in Middle Eastern patients with Mendelian disorders.

Yavarna T, Al-Dewik N, Al-Mureikhi M, Ali R, Al-Mesaifri F, Mahmoud L, Shahbeck N, Lakhani S, AlMulla M, Nawaz Z, Vitazka P, Alkuraya FS, Ben-Omran T.

Hum Genet. 2015 Jun 16. [Epub ahead of print]

PMID:
26077850
3.

Loss of function of PGAP1 as a cause of severe encephalopathy identified by Whole Exome Sequencing: Lessons of the bioinformatics pipeline.

Granzow M, Paramasivam N, Hinderhofer K, Fischer C, Chotewutmontri S, Kaufmann L, Evers C, Kotzaeridou U, Rohrschneider K, Schlesner M, Sturm M, Pinkert S, Eils R, Bartram CR, Bauer P, Moog U.

Mol Cell Probes. 2015 Jun 4. pii: S0890-8508(15)30008-6. doi: 10.1016/j.mcp.2015.05.012. [Epub ahead of print]

PMID:
26050939
4.

Identification of embryonic lethal genes in humans by autozygosity mapping and exome sequencing in consanguineous families.

Shamseldin HE, Tulbah M, Kurdi W, Nemer M, Alsahan N, Al Mardawi E, Khalifa O, Hashem A, Kurdi A, Babay Z, Bubshait DK, Ibrahim N, Abdulwahab F, Rahbeeni Z, Hashem M, Alkuraya FS.

Genome Biol. 2015 Jun 3;16(1):116. [Epub ahead of print]

PMID:
26036949
5.

Haploinsufficiency predictions without study bias.

Steinberg J, Honti F, Meader S, Webber C.

Nucleic Acids Res. 2015 May 22. pii: gkv474. [Epub ahead of print]

6.

Evolutionary Diagnosis of non-synonymous variants involved in differential drug response.

Gerek NZ, Liu L, Gerold K, Biparva P, Thomas ED, Kumar S.

BMC Med Genomics. 2015;8 Suppl 1:S6. doi: 10.1186/1755-8794-8-S1-S6. Epub 2015 Jan 15.

7.

Exome sequencing reveals pathogenic mutations in 91 strains of mice with Mendelian disorders.

Fairfield H, Srivastava A, Ananda G, Liu R, Kircher M, Lakshminarayana A, Harris BS, Karst SY, Dionne LA, Kane CC, Curtain M, Berry ML, Ward-Bailey PF, Greenstein I, Byers C, Czechanski A, Sharp J, Palmer K, Gudis P, Martin W, Tadenev A, Bogdanik L, Pratt CH, Chang B, Schroeder DG, Cox GA, Cliften P, Milbrandt J, Murray S, Burgess R, Bergstrom DE, Donahue LR, Hamamy H, Masri A, Santoni FA, Makrythanasis P, Antonarakis SE, Shendure J, Reinholdt LG.

Genome Res. 2015 Jul;25(7):948-57. doi: 10.1101/gr.186882.114. Epub 2015 Apr 27.

PMID:
25917818
8.

Prevalence estimation for monogenic autosomal recessive diseases using population-based genetic data.

Schrodi SJ, DeBarber A, He M, Ye Z, Peissig P, Van Wormer JJ, Haws R, Brilliant MH, Steiner RD.

Hum Genet. 2015 Jun;134(6):659-69. doi: 10.1007/s00439-015-1551-8. Epub 2015 Apr 19.

PMID:
25893794
9.

Whole exome sequencing combined with integrated variant annotation prediction identifies asymptomatic Tangier disease with compound heterozygous mutations in ABCA1 gene.

Tada H, Kawashiri MA, Nohara A, Saito R, Tanaka Y, Nomura A, Konno T, Sakata K, Fujino N, Takamura T, Inazu A, Mabuchi H, Yamagishi M, Hayashi K.

Atherosclerosis. 2015 Jun;240(2):324-9. doi: 10.1016/j.atherosclerosis.2015.04.003. Epub 2015 Apr 7.

PMID:
25875382
10.

Identification of a large set of rare complete human knockouts.

Sulem P, Helgason H, Oddson A, Stefansson H, Gudjonsson SA, Zink F, Hjartarson E, Sigurdsson GT, Jonasdottir A, Jonasdottir A, Sigurdsson A, Magnusson OT, Kong A, Helgason A, Holm H, Thorsteinsdottir U, Masson G, Gudbjartsson DF, Stefansson K.

Nat Genet. 2015 May;47(5):448-52. doi: 10.1038/ng.3243. Epub 2015 Mar 25.

PMID:
25807282
11.

An estimate of the average number of recessive lethal mutations carried by humans.

Gao Z, Waggoner D, Stephens M, Ober C, Przeworski M.

Genetics. 2015 Apr;199(4):1243-54. doi: 10.1534/genetics.114.173351. Epub 2015 Feb 18.

12.

The evaluation of tools used to predict the impact of missense variants is hindered by two types of circularity.

Grimm DG, Azencott CA, Aicheler F, Gieraths U, MacArthur DG, Samocha KE, Cooper DN, Stenson PD, Daly MJ, Smoller JW, Duncan LE, Borgwardt KM.

Hum Mutat. 2015 May;36(5):513-23. doi: 10.1002/humu.22768. Epub 2015 Mar 26.

PMID:
25684150
13.

Pathogenicity prediction of non-synonymous single nucleotide variants in dilated cardiomyopathy.

Mueller SC, Backes C, Haas J The Inheritance Study Group, Katus HA, Meder B, Meese E, Keller A.

Brief Bioinform. 2015 Jan 30. pii: bbu054. [Epub ahead of print]

PMID:
25638801
14.

Assessment of incidental findings in 232 whole-exome sequences from the Baylor-Hopkins Center for Mendelian Genomics.

Jurgens J, Ling H, Hetrick K, Pugh E, Schiettecatte F, Doheny K, Hamosh A, Avramopoulos D, Valle D, Sobreira N.

Genet Med. 2015 Jan 8. doi: 10.1038/gim.2014.196. [Epub ahead of print]

PMID:
25569433
15.

Comparison and integration of deleteriousness prediction methods for nonsynonymous SNVs in whole exome sequencing studies.

Dong C, Wei P, Jian X, Gibbs R, Boerwinkle E, Wang K, Liu X.

Hum Mol Genet. 2015 Apr 15;24(8):2125-37. doi: 10.1093/hmg/ddu733. Epub 2014 Dec 30.

PMID:
25552646
16.

Recessive thrombocytopenia likely due to a homozygous pathogenic variant in the FYB gene: case report.

Hamamy H, Makrythanasis P, Al-Allawi N, Muhsin AA, Antonarakis SE.

BMC Med Genet. 2014 Dec 17;15:135. doi: 10.1186/s12881-014-0135-0.

17.

Targeted next-generation sequencing identifies pathogenic variants in familial congenital heart disease.

Blue GM, Kirk EP, Giannoulatou E, Dunwoodie SL, Ho JW, Hilton DC, White SM, Sholler GF, Harvey RP, Winlaw DS.

J Am Coll Cardiol. 2014 Dec 16;64(23):2498-506. doi: 10.1016/j.jacc.2014.09.048.

PMID:
25500235
18.

FLAGS, frequently mutated genes in public exomes.

Shyr C, Tarailo-Graovac M, Gottlieb M, Lee JJ, van Karnebeek C, Wasserman WW.

BMC Med Genomics. 2014 Dec 3;7:64. doi: 10.1186/s12920-014-0064-y.

19.

Exome sequencing followed by genotyping suggests SYPL2 as a susceptibility gene for morbid obesity.

Jiao H, Arner P, Gerdhem P, Strawbridge RJ, Näslund E, Thorell A, Hamsten A, Kere J, Dahlman I.

Eur J Hum Genet. 2014 Nov 19. doi: 10.1038/ejhg.2014.255. [Epub ahead of print]

PMID:
25406998
20.

Genetic adaptation of the human circadian clock to day-length latitudinal variations and relevance for affective disorders.

Forni D, Pozzoli U, Cagliani R, Tresoldi C, Menozzi G, Riva S, Guerini FR, Comi GP, Bolognesi E, Bresolin N, Clerici M, Sironi M.

Genome Biol. 2014;15(10):499.

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