Preciado DA, Lawson L, Madden C, Myer D, Ngo C, Bradshaw JK, Choo DI, Greinwald JH: Improved diagnostic effectiveness with a sequential diagnostic paradigm in idiopathic pediatric sensorineural hearing loss. Otol Neurotol. 2005, 26 (4): 610-615. 10.1097/01.mao.0000178133.89353.1d.
Article
Google Scholar
Boston M, Halsted M, Meinzen-Derr J, Bean J, Vijayasekaran S, Arjmand E, Choo D, Benton C, Greinwald J: The large vestibular aqueduct: a new definition based on audiologic and computed tomography correlation. Otolaryngol Head Neck Surg. 2007, 136 (6): 972-977. 10.1016/j.otohns.2006.12.011.
Article
Google Scholar
Putcha GV, Bejjani BA, Bleoo S, Booker JK, Carey JC, Carson N, Das S, Dempsey MA, Gastier-Foster JM, Greinwald JH, Hoffmann ML, Jeng LJ, Kenna MA, Khababa I, Lilley M, Mao R, Muralidharan K, Otani IM, Rehm HL, Schaefer F, Seltzer WK, Spector EB, Springer MA, Weck KE, Wenstrup RJ, Withrow S, Wu BL, Zariwala MA, Schrijver I: A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort. Genet Med. 2007, 9 (7): 413-426. 10.1097/GIM.0b013e3180a03276.
Article
CAS
Google Scholar
Lim LH, Bradshaw JK, Guo Y, Pilipenko V, Madden C, Ingala D, Keddache M, Choo DI, Wenstrup R, Greinwald JH: Genotypic and phenotypic correlations of DFNB1-related hearing impairment in the Midwestern United States. Arch Otolaryngol Head Neck Surg. 2003, 129 (8): 836-840. 10.1001/archotol.129.8.836.
Article
Google Scholar
Cryns K, Orzan E, Murgia A, Huygen PL, Moreno F, del Castillo I, Chamberlin GP, Azaiez H, Prasad S, Cucci RA, Leonardi E, Snoeckx RL, Govaerts PJ, Heyning Van de PH, Heyning Van de CM, Smith RJ, Van Camp G: A genotype-phenotype correlation for GJB2 (connexin 26) deafness. J Med Genet. 2004, 41 (3): 147-154. 10.1136/jmg.2003.013896.
Article
CAS
Google Scholar
Everett LA, Glaser B, Beck JC, Idol JR, Buchs A, Heyman M, Adawi F, Hazani E, Nassir E, Baxevanis AD, Sheffield VC, Green ED: Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS). Nat Genet. 1997, 17 (4): 411-422. 10.1038/ng1297-411.
Article
CAS
Google Scholar
Weil D, Kussel P, Blanchard S, Levy G, Levi-Acobas F, Drira M, Ayadi H, Petit C: The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene. Nat Genet. 1997, 16 (2): 191-193. 10.1038/ng0697-191.
Article
CAS
Google Scholar
Bork JM, Peters LM, Riazuddin S, Bernstein SL, Ahmed ZM, Ness SL, Polomeno R, Ramesh A, Schloss M, Srisailpathy CR, Wayne S, Bellman S, Desmukh D, Ahmed Z, Khan SN, Kaloustian VM, Li XC, Lalwani A, Riazuddin S, Bitner-Glindzicz M, Nance WE, Liu XZ, Wistow G, Smith RJ, Griffith AJ, Wilcox ER, Friedman TB, Morell RJ: Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23. Am J Hum Genet. 2001, 68 (1): 26-37. 10.1086/316954.
Article
CAS
Google Scholar
Yasunaga S, Grati M, Cohen-Salmon M, El-Amraoui A, Mustapha M, Salem N, El-Zir E, Loiselet J, Petit C: A mutation in OTOF, encoding otoferlin, a FER-1-like protein, causes DFNB9, a nonsyndromic form of deafness. Nat Genet. 1999, 21 (4): 363-369. 10.1038/7693.
Article
CAS
Google Scholar
Liu C, Aronow BJ, Jegga AG, Wang N, Miethke A, Mourya R, Bezerra JA: Novel resequencing chip customized to diagnose mutations in patients with inherited syndromes of intrahepatic cholestasis. Gastroenterology. 2007, 132 (1): 119-126. 10.1053/j.gastro.2006.10.034.
Article
CAS
Google Scholar
Denning L, Anderson JA, Davis R, Gregg JP, Kuzdenyi J, Maselli RA: High throughput genetic analysis of congenital myasthenic syndromes using resequencing microarrays. PLoS ONE. 2007, 2 (9): e918-10.1371/journal.pone.0000918.
Article
Google Scholar
Fokstuen S, Lyle R, Munoz A, Gehrig C, Lerch R, Perrot A, Osterziel KJ, Geier C, Beghetti M, Mach F, Sztajzel J, Sigwart U, Antonarakis SE, Blouin JL: A DNA resequencing array for pathogenic mutation detection in hypertrophic cardiomyopathy. Hum Mutat. 2008, 29 (6): 879-885. 10.1002/humu.20749.
Article
CAS
Google Scholar
Waldmuller S, Muller M, Rackebrandt K, Binner P, Poths S, Bonin M, Scheffold T: Array-based resequencing assay for mutations causing hypertrophic cardiomyopathy. Clin Chem. 2008, 54 (4): 682-687. 10.1373/clinchem.2007.099119.
Article
Google Scholar
Lebet T, Chiles R, Hsu AP, Mansfield ES, Warrington JA, Puck JM: Mutations causing severe combined immunodeficiency: detection with a custom resequencing microarray. Genet Med. 2008, 10 (8): 575-585. 10.1097/GIM.0b013e31818063bc.
Article
CAS
Google Scholar
Xu N, Podolsky RH, Chudgar P, Chorich LP, Liu C, McDonough PG, Warrington JA, Layman LC: Screening candidate genes for mutations in patients with hypogonadotropic hypogonadism using custom genome resequencing microarrays. Am J Obstet Gynecol. 2005, 192 (4): 1274-82. 10.1016/j.ajog.2004.12.066. discussion 1282-4
Article
CAS
Google Scholar
Tengs T, Lee JC, Paez JG, Zhao X, LaFramboise T, Giannoukos G, Thomas RK: A transforming MET mutation discovered in non-small cell lung cancer using microarray-based resequencing. Cancer Lett. 2006, 239 (2): 227-233. 10.1016/j.canlet.2005.08.007.
Article
CAS
Google Scholar
Pandya GA, Holmes MH, Sunkara S, Sparks A, Bai Y, Verratti K, Saeed K, Venepally P, Jarrahi B, Fleischmann RD, Peterson SN: A bioinformatic filter for improved base-call accuracy and polymorphism detection using the Affymetrix GeneChip whole-genome resequencing platform. Nucleic Acids Res. 2007, 35 (21): e148-10.1093/nar/gkm918.
Article
Google Scholar
Hacia JG: Resequencing and mutational analysis using oligonucleotide microarrays. Nat Genet. 1999, 21 (1 Suppl): 42-47. 10.1038/4469.
Article
CAS
Google Scholar
Zhan Y, Kulp D: Model-P: a basecalling method for resequencing microarrays of diploid samples. Bioinformatics. 2005, 21 (Suppl 2): ii182-9. 10.1093/bioinformatics/bti1129.
Article
CAS
Google Scholar
Cutler DJ, Zwick ME, Carrasquillo MM, Yohn CT, Tobin KP, Kashuk C, Mathews DJ, Shah NA, Eichler EE, Warrington JA, Chakravarti A: High-throughput variation detection and genotyping using microarrays. Genome Res. 2001, 11 (11): 1913-1925.
CAS
Google Scholar
Wu C, Zhao H, Baggerly K, Carta R, Zhang L: Short oligonucleotide probes containing G-stacks display abnormal binding affinity on Affymetrix microarrays. Bioinformatics. 2007, 23 (19): 2566-2572. 10.1093/bioinformatics/btm271.
Article
CAS
Google Scholar
Saiki RK, Walsh PS, Levenson CH, Erlich HA: Genetic analysis of amplified DNA with immobilized sequence-specific oligonucleotide probes. Proc Natl Acad Sci USA. 1989, 86 (16): 6230-6234. 10.1073/pnas.86.16.6230.
Article
CAS
Google Scholar
Southern EM, Maskos U, Elder JK: Analyzing and comparing nucleic acid sequences by hybridization to arrays of oligonucleotides: evaluation using experimental models. Genomics. 1992, 13 (4): 1008-1017. 10.1016/0888-7543(92)90014-J.
Article
CAS
Google Scholar
Southern EM: DNA chips: analysing sequence by hybridization to oligonucleotides on a large scale. Trends Genet. 1996, 12 (3): 110-115. 10.1016/0168-9525(96)81422-3.
Article
CAS
Google Scholar
Wong CW, Albert TJ, Vega VB, Norton JE, Cutler DJ, Richmond TA, Stanton LW, Liu ET, Miller LD: Tracking the evolution of the SARS coronavirus using high-throughput, high-density resequencing arrays. Genome Res. 2004, 14 (3): 398-405. 10.1101/gr.2141004.
Article
CAS
Google Scholar
Winzeler EA, Castillo-Davis CI, Oshiro G, Liang D, Richards DR, Zhou Y, Hartl DL: Genetic diversity in yeast assessed with whole-genome oligonucleotide arrays. Genetics. 2003, 163 (1): 79-89.
CAS
Google Scholar
Waldmuller S, Freund P, Mauch S, Toder R, Vosberg HP: Low-density DNA microarrays are versatile tools to screen for known mutations in hypertrophic cardiomyopathy. Hum Mutat. 2002, 19 (5): 560-569. 10.1002/humu.10074.
Article
CAS
Google Scholar
Shchepinov MS, Case-Green SC, Southern EM: Steric factors influencing hybridisation of nucleic acids to oligonucleotide arrays. Nucleic Acids Res. 1997, 25 (6): 1155-1161. 10.1093/nar/25.6.1155.
Article
CAS
Google Scholar
Vora GJ, Meador CE, Stenger DA, Andreadis JD: Nucleic acid amplification strategies for DNA microarray-based pathogen detection. Appl Environ Microbiol. 2004, 70 (5): 3047-3054. 10.1128/AEM.70.5.3047-3054.2004.
Article
CAS
Google Scholar
Southern E, Mir K, Shchepinov M: Molecular interactions on microarrays. Nat Genet. 1999, 21 (1 Suppl): 5-9. 10.1038/4429.
Article
CAS
Google Scholar
Lin SC, Chung MY, Huang JW, Shieh TM, Liu CJ, Chang KW: Correlation between functional genotypes in the matrix metalloproteinases-1 promoter and risk of oral squamous cell carcinomas. J Oral Pathol Med. 2004, 33 (6): 323-326.
Article
CAS
Google Scholar
Othman M, Notley C, Lavender FL, White H, Byrne CD, Lillicrap D, O'Shaughnessy DF: Identification and functional characterization of a novel 27-bp deletion in the macroglycopeptide-coding region of the GPIBA gene resulting in platelet-type von Willebrand disease. Blood. 2005, 105 (11): 4330-4336. 10.1182/blood-2002-09-2942.
Article
CAS
Google Scholar
de Sanctis L, Corrias A, Romagnolo D, Di Palma T, Biava A, Borgarello G, Gianino P, Silvestro L, Zannini M, Dianzani I: Familial PAX8 small deletion (c.989_992delACCC) associated with extreme phenotype variability. J Clin Endocrinol Metab. 2004, 89 (11): 5669-5674. 10.1210/jc.2004-0398.
Article
CAS
Google Scholar
Tang HY, Xia A, Oghalai JS, Pereira FA, Alford RL: High frequency of the IVS2-2A>G DNA sequence variation in SLC26A5, encoding the cochlear motor protein prestin, precludes its involvement in hereditary hearing loss. BMC Med Genet. 2005, 6: 30-10.1186/1471-2350-6-30.
Article
Google Scholar