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Next generation sequencing-based copy number analysis reveals low prevalence of deletions and duplications in 46 genes associated with genetic cardiomyopathies.
Mol Genet Genomic Med. 2015 Dec 16;4(2):143-51. doi: 10.1002/mgg3.187. eCollection 2016 Mar.
Mol Genet Genomic Med. 2015.
PMID: 27066507
Free PMC article.
Targeted Droplet-Digital PCR as a Tool for Novel Deletion Discovery at the DFNB1 Locus.
Tayoun AN, Mason-Suares H, Frisella AL, Bowser M, Duffy E, Mahanta L, Funke B, Rehm HL, Amr SS.
Tayoun AN, et al. Among authors: frisella al.
Hum Mutat. 2016 Jan;37(1):119-26. doi: 10.1002/humu.22912. Epub 2015 Oct 29.
Hum Mutat. 2016.
PMID: 26444186
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The mouse region syntenic for human spinal muscular atrophy lies within the Lgn1 critical interval and contains multiple copies of Naip exon 5.
Scharf JM, Damron D, Frisella A, Bruno S, Beggs AH, Kunkel LM, Dietrich WF.
Scharf JM, et al.
Genomics. 1996 Dec 15;38(3):405-17. doi: 10.1006/geno.1996.0644.
Genomics. 1996.
PMID: 8975718
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