Genet Test Mol Biomarkers 2014 Sep 25;18(9):658-61. Epub 2014 Jul 25.
1 John P. Hussmann Institute for Human Genomics, Miller School of Medicine, University of Miami , Miami, Florida.
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Hum Mutat 2016 08 6;37(8):812-9. Epub 2016 May 6.
Department of Medical Genetics, University of Antwerp, Antwerp, Belgium.
Although there are nearly 100 different causative genes identified for nonsyndromic hearing loss (NSHL), Sanger sequencing-based DNA diagnostics usually only analyses three, namely, GJB2, SLC26A4, and OTOF. As this is seen as inadequate, there is a need for high-throughput diagnostic methods to detect disease-causing variations, including single-nucleotide variations (SNVs), insertions/deletions (Indels), and copy-number variations (CNVs). In this study, a targeted resequencing panel for hearing loss was developed including 79 genes for NSHL and selected forms of syndromic hearing loss. Read More
PLoS One 2012 30;7(11):e50628. Epub 2012 Nov 30.
John P. Hussman Institute for Human Genomics and the Dr. John T. Macdonald Department of Human Genetics, University of Miami Miller School of Medicine, Miami, Florida, United States of America.
Identification of the pathogenic mutations underlying autosomal recessive nonsyndromic hearing loss (ARNSHL) is difficult, since causative mutations in 39 different genes have so far been reported. After excluding mutations in the most common ARNSHL gene, GJB2, via Sanger sequencing, we performed whole-exome sequencing (WES) in 30 individuals from 20 unrelated multiplex consanguineous families with ARNSHL. Agilent SureSelect Human All Exon 50 Mb kits and an Illumina Hiseq2000 instrument were used. Read More
Eur J Hum Genet 2017 02 21;25(3):308-314. Epub 2016 Dec 21.
The Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.
Hearing impairment (HI) is genetically heterogeneous which hampers genetic counseling and molecular diagnosis. Testing of several single HI-related genes is laborious and expensive. In this study, we evaluate the diagnostic utility of whole-exome sequencing (WES) targeting a panel of HI-related genes. Read More
BMC Med Genet 2014 Apr 28;15:46. Epub 2014 Apr 28.
Division of Intractable Diseases, Center for Biomedical Sciences, National Institute of Health, Chungcheongbuk-do 363-951, South Korea.
Background: Patient genetic heterogeneity renders it difficult to discover disease-cause genes. Whole-exome sequencing is a powerful new strategy that can be used to this end. The purpose of the present study was to identify a hitherto unknown mutation causing autosomal recessive nonsyndromic hearing loss (ARNSHL) in Korean families. Read More