Evaluation of copy number variants for genetic hearing loss: a review of current approaches and recent findings
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics(clinical),Genetics
Link
https://link.springer.com/content/pdf/10.1007/s00439-021-02365-1.pdf
Reference82 articles.
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3. Alkowari MK, Vozzi D, Bhagat S, Krishnamoorthy N, Morgan A, Hayder Y, Logendra B, Najjar N, Gandin I, Gasparini P, Badii R, Girotto G, Abdulhadi K (2017) Targeted sequencing identifies novel variants involved in autosomal recessive hereditary hearing loss in Qatari families. Mutat Res 800–802:29–36. https://doi.org/10.1016/j.mrfmmm.2017.05.001 (Epub 2017 May 4. PMID: 28501645)
4. Amr SS, Murphy E, Duffy E, Niazi R, Balciuniene J, Luo M, Rehm HL, Abou Tayoun AN (2018) Allele-specific droplet digital PCR combined with a next-generation sequencing-based algorithm for diagnostic copy number analysis in genes with high homology: proof of concept using stereocilin. Clin Chem 64(4):705–714. https://doi.org/10.1373/clinchem.2017.280685 (Epub 2018 Jan 16. PMID: 29339441)
5. Azaiez H, Booth KT, Ephraim SS, Crone B, Black-Ziegelbein EA, Marini RJ, Shearer AE, Sloan-Heggen CM, Kolbe D, Casavant T, Schnieders MJ, Nishimura C, Braun T, Smith RJH (2018) Genomic landscape and mutational signatures of deafness-associated genes. Am J Hum Genet 103(4):484–497. https://doi.org/10.1016/j.ajhg.2018.08.006 (Epub 2018 Sep 20. PMID: 30245029; PMCID: PMC6174355)
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