Biomedical Engineering Reference
In-Depth Information
Pierce SB, Walsh T, Chisholm KM et al (2010) Mutations in the DBP-defi ciency protein HSD17B4
cause ovarian dysgenesis, hearing loss, and ataxia of Perrault Syndrome. Am J Hum Genet
87:282-288. doi: 10.1016/j.ajhg.2010.07.007
Rehm HL (2013) Disease-targeted sequencing: a cornerstone in the clinic. Nat Rev Genet 14:
295-300. doi: 10.1038/nrg3463
Rios J, Stein E, Shendure J et al (2010) Identifi cation by whole-genome resequencing of gene
defect responsible for severe hypercholesterolemia. Hum Mol Genet 19:4313-4318.
doi: 10.1093/hmg/ddq352
Sivakumaran TA, Husami A, Kissell D et al (2013) Performance evaluation of the next-genera-
tion sequencing approach for molecular diagnosis of hereditary hearing loss. Otolaryngol-
Head Neck Surg Off J Am Acad Otolaryngol-Head Neck Surg 148:1007-1016. doi:
10.1177/0194599813482294
Su Z, Ning B, Fang H et al (2011) Next-generation sequencing and its applications in molecular
diagnostics. Expert Rev Mol Diagn 11:333-343. doi: 10.1586/erm.11.3
Sulonen AM, Ellonen P, Almusa H et al (2011) Comparison of solution-based exome capture
methods for next-generation sequencing. Genome Biol 12(9):R94
Tennessen JA, Bigham AW, O'Connor TD et al (2012) Evolution and functional impact of rare
coding variation from deep sequencing of human exomes. Science 337:64-69. doi: 10.1126/
science.1219240
Treff NR, Fedick A, Tao X et al (2013) Evaluation of targeted next-generation sequencing-based
preimplantation genetic diagnosis of monogenic disease. Fertil Steril 99:1377-1384.e6.
doi: 10.1016/j.fertnstert.2012.12.018
Valencia CA, Ankala A, Rhodenizer D et al (2013) Comprehensive mutation analysis for congeni-
tal muscular dystrophy: a clinical PCR-based enrichment and next-generation sequencing
panel. PLoS One 8(1):e53083
Vasli N, Böhm J, Le Gras S et al (2012) Next-generation sequencing for molecular diagnosis of
neuromuscular diseases. Acta Neuropathol (Berl) 124:273-283. doi: 10.1007/s00401-012-0982-8
Walsh T, Shahin H, Elkan-Miller T et al (2010) Whole exome sequencing and homozygosity
mapping identify mutation in the cell polarity protein GPSM2 as the cause of nonsyndromic
hearing loss DFNB82. Am J Hum Genet 87:90-94. doi: 10.1016/j.ajhg.2010.05.010
Wang JL, Yang X, Xia K et al (2010a) TGM6 identifi ed as a novel causative gene of spinocerebel-
lar ataxias using exome sequencing. Brain J Neurol 133:3510-3518. doi: 10.1093/brain/awq323
Wang K, Li M, Hakonarson H (2010b) ANNOVAR: functional annotation of genetic variants from
high-throughput sequencing data. Nucleic Acids Res 38(16):e164. doi : 10.1093/nar/gkq603
Wheeler DL, Barrett T, Benson DA et al (2007) Database resources of the National Center for
Biotechnology Information. Nucleic Acids Res 38:D5-16. doi: 10.1093/nar/gkp967
Wong LJ (2013a) Next generation molecular diagnosis of mitochondrial disorders. Mitochondrion.
doi: 10.1016/j.mito.2013.02.001
Wong L-JC (2013b) Next generation molecular diagnosis of mitochondrial disorders.
Mitochondrion 13:379-387. doi: 10.1016/j.mito.2013.02.001
Worthey EA, Mayer AN, Syverson GD et al (2011) Making a defi nitive diagnosis: successful clini-
cal application of whole exome sequencing in a child with intractable infl ammatory bowel
disease. Genet Med 13:255-262. doi: 10.1097/GIM.0b013e3182088158
Yu Y, Wu BL, Wu J, Shen Y (2012) Exome and whole-genome sequencing as clinical tests: a
transformative practice in molecular diagnostics. Clin Chem 58(11):1507-1509
Yu L, Wynn J, Cheung YH et al (2013) Variants in GATA4 are a rare cause of familial and sporadic
congenital diaphragmatic hernia. Hum Genet 132:285-292. doi: 10.1007/s00439-012-1249-0
Search WWH ::




Custom Search