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Items: 16

1.

MYO3A Causes Human Dominant Deafness and Interacts with Protocadherin 15-CD2 Isoform.

Grati M, Yan D, Raval MH, Walsh T, Ma Q, Chakchouk I, Kannan-Sundhari A, Mittal R, Masmoudi S, Blanton SH, Tekin M, King MC, Yengo CM, Liu XZ.

Hum Mutat. 2016 May;37(5):481-7. doi: 10.1002/humu.22961. Epub 2016 Feb 16.

PMID:
26841241
2.

Downsloping high-frequency hearing loss due to inner ear tricellular tight junction disruption by a novel ILDR1 mutation in the Ig-like domain.

Kim NK, Higashi T, Lee KY, Kim AR, Kitajiri S, Kim MY, Chang MY, Kim V, Oh SH, Kim D, Furuse M, Park WY, Choi BY.

PLoS One. 2015 Feb 10;10(2):e0116931. doi: 10.1371/journal.pone.0116931. eCollection 2015.

PMID:
25668204
3.

Exome sequencing and genome-wide copy number variant mapping reveal novel associations with sensorineural hereditary hearing loss.

Haraksingh RR, Jahanbani F, Rodriguez-Paris J, Gelernter J, Nadeau KC, Oghalai JS, Schrijver I, Snyder MP.

BMC Genomics. 2014 Dec 20;15:1155. doi: 10.1186/1471-2164-15-1155.

PMID:
25528277
4.

Congenital cataracts: de novo gene conversion event in CRYBB2.

Garnai SJ, Huyghe JR, Reed DM, Scott KM, Liebmann JM, Boehnke M, Richards JE, Ritch R, Pawar H.

Mol Vis. 2014 Nov 6;20:1579-93. eCollection 2014.

PMID:
25489230
5.

Improved variant calling accuracy by merging replicates in whole-exome sequencing studies.

Zhang Y, Li B, Li C, Cai Q, Zheng W, Long J.

Biomed Res Int. 2014;2014:319534. doi: 10.1155/2014/319534. Epub 2014 Aug 4.

PMID:
25162009
6.

Whole exome sequencing identifies new causative mutations in Tunisian families with non-syndromic deafness.

Riahi Z, Bonnet C, Zainine R, Louha M, Bouyacoub Y, Laroussi N, Chargui M, Kefi R, Jonard L, Dorboz I, Hardelin JP, Salah SB, Levilliers J, Weil D, McElreavey K, Boespflug OT, Besbes G, Abdelhak S, Petit C.

PLoS One. 2014 Jun 13;9(6):e99797. doi: 10.1371/journal.pone.0099797. eCollection 2014.

PMID:
24926664
7.

Genetic profiling for risk reduction in human cardiovascular disease.

Puckelwartz MJ, McNally EM.

Genes (Basel). 2014 Mar 12;5(1):214-34. doi: 10.3390/genes5010214.

PMID:
24705294
8.

Whole-genome DNA/RNA sequencing identifies truncating mutations in RBCK1 in a novel Mendelian disease with neuromuscular and cardiac involvement.

Wang K, Kim C, Bradfield J, Guo Y, Toskala E, Otieno FG, Hou C, Thomas K, Cardinale C, Lyon GJ, Golhar R, Hakonarson H.

Genome Med. 2013 Jul 26;5(7):67. doi: 10.1186/gm471. eCollection 2013.

PMID:
23889995
9.

Functional proteomics, human genetics and cancer biology of GIPC family members.

Katoh M.

Exp Mol Med. 2013 Jun 7;45:e26. doi: 10.1038/emm.2013.49. Review.

PMID:
23743496
10.

Next-generation sequencing in genetic hearing loss.

Yan D, Tekin M, Blanton SH, Liu XZ.

Genet Test Mol Biomarkers. 2013 Aug;17(8):581-7. doi: 10.1089/gtmb.2012.0464. Epub 2013 Jun 5. Review.

PMID:
23738631
11.

SLITRK6 mutations cause myopia and deafness in humans and mice.

Tekin M, Chioza BA, Matsumoto Y, Diaz-Horta O, Cross HE, Duman D, Kokotas H, Moore-Barton HL, Sakoori K, Ota M, Odaka YS, Foster J 2nd, Cengiz FB, Tokgoz-Yilmaz S, Tekeli O, Grigoriadou M, Petersen MB, Sreekantan-Nair A, Gurtz K, Xia XJ, Pandya A, Patton MA, Young JI, Aruga J, Crosby AH.

J Clin Invest. 2013 May;123(5):2094-102. doi: 10.1172/JCI65853. Epub 2013 Apr 1.

PMID:
23543054
12.

Whole-exome sequencing efficiently detects rare mutations in autosomal recessive nonsyndromic hearing loss.

Diaz-Horta O, Duman D, Foster J 2nd, Sırmacı A, Gonzalez M, Mahdieh N, Fotouhi N, Bonyadi M, Cengiz FB, Menendez I, Ulloa RH, Edwards YJ, Züchner S, Blanton S, Tekin M.

PLoS One. 2012;7(11):e50628. doi: 10.1371/journal.pone.0050628. Epub 2012 Nov 30.

PMID:
23226338
13.

Exome analysis of two limb-girdle muscular dystrophy families: mutations identified and challenges encountered.

McDonald KK, Stajich J, Blach C, Ashley-Koch AE, Hauser MA.

PLoS One. 2012;7(11):e48864. doi: 10.1371/journal.pone.0048864. Epub 2012 Nov 14.

PMID:
23155419
14.

Molecular characterization and ligand binding specificity of the PDZ domain-containing protein GIPC3 from Schistosoma japonicum.

Mu Y, Huang H, Liu S, Cai P, Gao Y.

Parasit Vectors. 2012 Oct 10;5:227. doi: 10.1186/1756-3305-5-227.

PMID:
23050840
15.

High-throughput sequencing to decipher the genetic heterogeneity of deafness.

Brownstein Z, Bhonker Y, Avraham KB.

Genome Biol. 2012 May 29;13(5):245. doi: 10.1186/gb-2012-13-5-245. Review.

PMID:
22647651
16.

Amplification of GC-rich DNA for high-throughput family-based genetic studies.

Naz S, Fatima A.

Mol Biotechnol. 2013 Mar;53(3):345-50. doi: 10.1007/s12033-012-9559-y.

PMID:
22644933

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