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Items: 1 to 20 of 100

1.

Filtering for compound heterozygous sequence variants in non-consanguineous pedigrees.

Kamphans T, Sabri P, Zhu N, Heinrich V, Mundlos S, Robinson PN, Parkhomchuk D, Krawitz PM.

PLoS One. 2013 Aug 5;8(8):e70151. doi: 10.1371/journal.pone.0070151. Print 2013.

2.

FMFilter: A fast model based variant filtering tool.

Akgün M, Faruk Gerdan Ö, Görmez Z, Demirci H.

J Biomed Inform. 2016 Apr;60:319-27. doi: 10.1016/j.jbi.2016.02.013. Epub 2016 Feb 27.

3.

exomeSuite: Whole exome sequence variant filtering tool for rapid identification of putative disease causing SNVs/indels.

Maranhao B, Biswas P, Duncan JL, Branham KE, Silva GA, Naeem MA, Khan SN, Riazuddin S, Hejtmancik JF, Heckenlively JR, Riazuddin SA, Lee PL, Ayyagari R.

Genomics. 2014 Feb-Mar;103(2-3):169-76. doi: 10.1016/j.ygeno.2014.02.006. Epub 2014 Mar 3.

4.

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
5.

Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies.

Eisenberger T, Neuhaus C, Khan AO, Decker C, Preising MN, Friedburg C, Bieg A, Gliem M, Charbel Issa P, Holz FG, Baig SM, Hellenbroich Y, Galvez A, Platzer K, Wollnik B, Laddach N, Ghaffari SR, Rafati M, Botzenhart E, Tinschert S, Börger D, Bohring A, Schreml J, Körtge-Jung S, Schell-Apacik C, Bakur K, Al-Aama JY, Neuhann T, Herkenrath P, Nürnberg G, Nürnberg P, Davis JS, Gal A, Bergmann C, Lorenz B, Bolz HJ.

PLoS One. 2013 Nov 12;8(11):e78496. doi: 10.1371/journal.pone.0078496. eCollection 2013. Erratum in: PLoS One. 2014;9(11):e108840.

6.

Identity-by-descent filtering of exome sequence data for disease-gene identification in autosomal recessive disorders.

Rödelsperger C, Krawitz P, Bauer S, Hecht J, Bigham AW, Bamshad M, de Condor BJ, Schweiger MR, Robinson PN.

Bioinformatics. 2011 Mar 15;27(6):829-36. doi: 10.1093/bioinformatics/btr022. Epub 2011 Jan 28.

7.

Exome-based mapping and variant prioritization for inherited Mendelian disorders.

Koboldt DC, Larson DE, Sullivan LS, Bowne SJ, Steinberg KM, Churchill JD, Buhr AC, Nutter N, Pierce EA, Blanton SH, Weinstock GM, Wilson RK, Daiger SP.

Am J Hum Genet. 2014 Mar 6;94(3):373-84. doi: 10.1016/j.ajhg.2014.01.016. Epub 2014 Feb 20.

8.

Identification of CDH23 mutations in Korean families with hearing loss by whole-exome sequencing.

Woo HM, Park HJ, Park MH, Kim BY, Shin JW, Yoo WG, Koo SK.

BMC Med Genet. 2014 Apr 28;15:46. doi: 10.1186/1471-2350-15-46.

9.

An exome sequencing strategy to diagnose lethal autosomal recessive disorders.

Ellard S, Kivuva E, Turnpenny P, Stals K, Johnson M, Xie W, Caswell R, Lango Allen H.

Eur J Hum Genet. 2015 Mar;23(3):401-4. doi: 10.1038/ejhg.2014.120. Epub 2014 Jun 25.

10.

Analysis of the ABCA4 genomic locus in Stargardt disease.

Zernant J, Xie YA, Ayuso C, Riveiro-Alvarez R, Lopez-Martinez MA, Simonelli F, Testa F, Gorin MB, Strom SP, Bertelsen M, Rosenberg T, Boone PM, Yuan B, Ayyagari R, Nagy PL, Tsang SH, Gouras P, Collison FT, Lupski JR, Fishman GA, Allikmets R.

Hum Mol Genet. 2014 Dec 20;23(25):6797-806. doi: 10.1093/hmg/ddu396. Epub 2014 Jul 31.

11.

Novel compound heterozygous mutations in MYO7A gene associated with autosomal recessive sensorineural hearing loss in a Chinese family.

Ma Y, Xiao Y, Zhang F, Han Y, Li J, Xu L, Bai X, Wang H.

Int J Pediatr Otorhinolaryngol. 2016 Apr;83:179-85. doi: 10.1016/j.ijporl.2016.01.001. Epub 2016 Jan 7.

PMID:
26968074
12.

mirTrios: an integrated pipeline for detection of de novo and rare inherited mutations from trios-based next-generation sequencing.

Li J, Jiang Y, Wang T, Chen H, Xie Q, Shao Q, Ran X, Xia K, Sun ZS, Wu J.

J Med Genet. 2015 Apr;52(4):275-81. doi: 10.1136/jmedgenet-2014-102656. Epub 2015 Jan 16.

PMID:
25596308
13.

Targeted next-generation sequencing identifies novel compound heterozygous mutations of DYNC2H1 in a fetus with short rib-polydactyly syndrome, type III.

Mei L, Huang Y, Pan Q, Su W, Quan Y, Liang D, Wu L.

Clin Chim Acta. 2015 Jul 20;447:47-51. doi: 10.1016/j.cca.2015.05.005. Epub 2015 May 14.

PMID:
25982780
14.

Whole-exome sequencing of a rare case of familial childhood acute lymphoblastic leukemia reveals putative predisposing mutations in Fanconi anemia genes.

Spinella JF, Healy J, Saillour V, Richer C, Cassart P, Ouimet M, Sinnett D.

BMC Cancer. 2015 Jul 23;15:539. doi: 10.1186/s12885-015-1549-6.

15.

Novel compound heterozygous mutations in MYO7A in a Chinese family with Usher syndrome type 1.

Liu F, Li P, Liu Y, Li W, Wong F, Du R, Wang L, Li C, Jiang F, Tang Z, Liu M.

Mol Vis. 2013;19:695-701. Epub 2013 Mar 21.

16.

The effect of inbreeding on the distribution of compound heterozygotes: a lesson from Lipase H mutations in autosomal recessive woolly hair/hypotrichosis.

Petukhova L, Shimomura Y, Wajid M, Gorroochurn P, Hodge SE, Christiano AM.

Hum Hered. 2009;68(2):117-30. doi: 10.1159/000212504. Epub 2009 Apr 9.

17.

Challenges and solutions for gene identification in the presence of familial locus heterogeneity.

Rehman AU, Santos-Cortez RL, Drummond MC, Shahzad M, Lee K, Morell RJ, Ansar M, Jan A, Wang X, Aziz A, Riazuddin S, Smith JD, Wang GT, Ahmed ZM, Gul K, Shearer AE, Smith RJ, Shendure J, Bamshad MJ, Nickerson DA; University of Washington Center for Mendelian Genomics., Hinnant J, Khan SN, Fisher RA, Ahmad W, Friderici KH, Riazuddin S, Friedman TB, Wilch ES, Leal SM.

Eur J Hum Genet. 2015 Sep;23(9):1207-15. doi: 10.1038/ejhg.2014.266. Epub 2014 Dec 10.

18.

Advantage of Whole Exome Sequencing over Allele-Specific and Targeted Segment Sequencing in Detection of Novel TULP1 Mutation in Leber Congenital Amaurosis.

Guo Y, Prokudin I, Yu C, Liang J, Xie Y, Flaherty M, Tian L, Crofts S, Wang F, Snyder J, Donaldson C, Abdel-Magid N, Vazquez L, Keating B, Hakonarson H, Wang J, Jamieson RV.

Ophthalmic Genet. 2015;36(4):333-8. doi: 10.3109/13816810.2014.886269. Epub 2014 Feb 19.

PMID:
24547928
19.

Whole exome sequencing identifies a causal RBM20 mutation in a large pedigree with familial dilated cardiomyopathy.

Wells QS, Becker JR, Su YR, Mosley JD, Weeke P, D'Aoust L, Ausborn NL, Ramirez AH, Pfotenhauer JP, Naftilan AJ, Markham L, Exil V, Roden DM, Hong CC.

Circ Cardiovasc Genet. 2013 Aug;6(4):317-26. doi: 10.1161/CIRCGENETICS.113.000011. Epub 2013 Jul 16.

20.

Exome sequencing identified null mutations in LOXL3 associated with early-onset high myopia.

Li J, Gao B, Xiao X, Li S, Jia X, Sun W, Guo X, Zhang Q.

Mol Vis. 2016 Feb 20;22:161-7. eCollection 2016.

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