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Items: 1 to 20 of 41

1.

DFNA8/12 caused by TECTA mutations is the most identified subtype of nonsyndromic autosomal dominant hearing loss.

Hildebrand MS, Morín M, Meyer NC, Mayo F, Modamio-Hoybjor S, Mencía A, Olavarrieta L, Morales-Angulo C, Nishimura CJ, Workman H, DeLuca AP, del Castillo I, Taylor KR, Tompkins B, Goodman CW, Schrauwen I, Wesemael MV, Lachlan K, Shearer AE, Braun TA, Huygen PL, Kremer H, Van Camp G, Moreno F, Casavant TL, Smith RJ, Moreno-Pelayo MA.

Hum Mutat. 2011 Jul;32(7):825-34. doi: 10.1002/humu.21512. Epub 2011 Jun 7.

2.

A deleterious mutation in the LOXHD1 gene causes autosomal recessive hearing loss in Ashkenazi Jews.

Edvardson S, Jalas C, Shaag A, Zenvirt S, Landau C, Lerer I, Elpeleg O.

Am J Med Genet A. 2011 May;155A(5):1170-2. doi: 10.1002/ajmg.a.33972. Epub 2011 Apr 4.

PMID:
21465660
3.

Mutations in TMC1 are a common cause of DFNB7/11 hearing loss in the Iranian population.

Hildebrand MS, Kahrizi K, Bromhead CJ, Shearer AE, Webster JA, Khodaei H, Abtahi R, Bazazzadegan N, Babanejad M, Nikzat N, Kimberling WJ, Stephan D, Huygen PL, Bahlo M, Smith RJ, Najmabadi H.

Ann Otol Rhinol Laryngol. 2010 Dec;119(12):830-5.

4.

Comprehensive genetic testing for hereditary hearing loss using massively parallel sequencing.

Shearer AE, DeLuca AP, Hildebrand MS, Taylor KR, Gurrola J 2nd, Scherer S, Scheetz TE, Smith RJ.

Proc Natl Acad Sci U S A. 2010 Dec 7;107(49):21104-9. doi: 10.1073/pnas.1012989107. Epub 2010 Nov 15.

5.

Two novel missense mutations in the TECTA gene in Korean families with autosomal dominant nonsyndromic hearing loss.

Sagong B, Park R, Kim YH, Lee KY, Baek JI, Cho HJ, Cho IJ, Kim UK, Lee SH.

Ann Clin Lab Sci. 2010 Fall;40(4):380-5.

PMID:
20947814
6.

Topology of transmembrane channel-like gene 1 protein.

Labay V, Weichert RM, Makishima T, Griffith AJ.

Biochemistry. 2010 Oct 5;49(39):8592-8. doi: 10.1021/bi1004377. Epub 2010 Sep 8.

7.

VariantClassifier: A hierarchical variant classifier for annotated genomes.

Li K, Stockwell TB.

BMC Res Notes. 2010 Jul 13;3:191. doi: 10.1186/1756-0500-3-191.

8.

Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing.

Walsh T, Lee MK, Casadei S, Thornton AM, Stray SM, Pennil C, Nord AS, Mandell JB, Swisher EM, King MC.

Proc Natl Acad Sci U S A. 2010 Jul 13;107(28):12629-33. doi: 10.1073/pnas.1007983107. Epub 2010 Jun 28.

9.

Genomic duplication and overexpression of TJP2/ZO-2 leads to altered expression of apoptosis genes in progressive nonsyndromic hearing loss DFNA51.

Walsh T, Pierce SB, Lenz DR, Brownstein Z, Dagan-Rosenfeld O, Shahin H, Roeb W, McCarthy S, Nord AS, Gordon CR, Ben-Neriah Z, Sebat J, Kanaan M, Lee MK, Frydman M, King MC, Avraham KB.

Am J Hum Genet. 2010 Jul 9;87(1):101-9. doi: 10.1016/j.ajhg.2010.05.011. Epub 2010 Jun 17.

10.

Whole exome sequencing and homozygosity mapping identify mutation in the cell polarity protein GPSM2 as the cause of nonsyndromic hearing loss DFNB82.

Walsh T, Shahin H, Elkan-Miller T, Lee MK, Thornton AM, Roeb W, Abu Rayyan A, Loulus S, Avraham KB, King MC, Kanaan M.

Am J Hum Genet. 2010 Jul 9;87(1):90-4. doi: 10.1016/j.ajhg.2010.05.010. Epub 2010 Jun 17.

11.

Nonsense mutation of the stereociliar membrane protein gene PTPRQ in human hearing loss DFNB84.

Shahin H, Rahil M, Abu Rayan A, Avraham KB, King MC, Kanaan M, Walsh T.

J Med Genet. 2010 Sep;47(9):643-5. doi: 10.1136/jmg.2009.075697. Epub 2010 May 14.

PMID:
20472657
12.

A method and server for predicting damaging missense mutations.

Adzhubei IA, Schmidt S, Peshkin L, Ramensky VE, Gerasimova A, Bork P, Kondrashov AS, Sunyaev SR.

Nat Methods. 2010 Apr;7(4):248-9. doi: 10.1038/nmeth0410-248. No abstract available.

13.

SNVMix: predicting single nucleotide variants from next-generation sequencing of tumors.

Goya R, Sun MG, Morin RD, Leung G, Ha G, Wiegand KC, Senz J, Crisan A, Marra MA, Hirst M, Huntsman D, Murphy KP, Aparicio S, Shah SP.

Bioinformatics. 2010 Mar 15;26(6):730-6. doi: 10.1093/bioinformatics/btq040. Epub 2010 Feb 3.

14.

Five novel loci for inherited hearing loss mapped by SNP-based homozygosity profiles in Palestinian families.

Shahin H, Walsh T, Rayyan AA, Lee MK, Higgins J, Dickel D, Lewis K, Thompson J, Baker C, Nord AS, Stray S, Gurwitz D, Avraham KB, King MC, Kanaan M.

Eur J Hum Genet. 2010 Apr;18(4):407-13. doi: 10.1038/ejhg.2009.190. Epub 2009 Nov 4.

15.

Enrichment of sequencing targets from the human genome by solution hybridization.

Tewhey R, Nakano M, Wang X, Pabón-Peña C, Novak B, Giuffre A, Lin E, Happe S, Roberts DN, LeProust EM, Topol EJ, Harismendy O, Frazer KA.

Genome Biol. 2009;10(10):R116. doi: 10.1186/gb-2009-10-10-r116. Epub 2009 Oct 16.

16.

Hearing loss: mechanisms revealed by genetics and cell biology.

Dror AA, Avraham KB.

Annu Rev Genet. 2009;43:411-37. doi: 10.1146/annurev-genet-102108-134135. Review.

PMID:
19694516
17.

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm.

Kumar P, Henikoff S, Ng PC.

Nat Protoc. 2009;4(7):1073-81. doi: 10.1038/nprot.2009.86. Epub 2009 Jun 25.

PMID:
19561590
18.

Fast and accurate short read alignment with Burrows-Wheeler transform.

Li H, Durbin R.

Bioinformatics. 2009 Jul 15;25(14):1754-60. doi: 10.1093/bioinformatics/btp324. Epub 2009 May 18.

19.

Deafness genes in Israel: implications for diagnostics in the clinic.

Brownstein Z, Avraham KB.

Pediatr Res. 2009 Aug;66(2):128-34. doi: 10.1203/PDR.0b013e3181aabd7f. Review.

PMID:
19390476
20.

Mutations in the first MyTH4 domain of MYO15A are a common cause of DFNB3 hearing loss.

Shearer AE, Hildebrand MS, Webster JA, Kahrizi K, Meyer NC, Jalalvand K, Arzhanginy S, Kimberling WJ, Stephan D, Bahlo M, Smith RJ, Najmabadi H.

Laryngoscope. 2009 Apr;119(4):727-33. doi: 10.1002/lary.20116.

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