[HTML][HTML] Non-syndromic hearing loss gene identification: A brief history and glimpse into the future

B Vona, I Nanda, MAH Hofrichter… - Molecular and cellular …, 2015 - Elsevier
From the first identified non-syndromic hearing loss gene in 1995, to those discovered in
present day, the field of human genetics has witnessed an unparalleled revolution that …

Hereditary non-syndromic sensorineural hearing loss: transforming silence to sound

I Schrijver - The Journal of molecular diagnostics, 2004 - Elsevier
Tremendous progress has been made in our understanding of the molecular basis of
hearing and hearing loss. Through recent advances, we have begun to understand the …

Hereditary sensorineural hearing loss: advances in molecular genetics and mutation analysis

I Schrijver, P Gardner - Expert review of molecular diagnostics, 2006 - Taylor & Francis
Hearing loss has a genetic etiology in the majority of cases and is very common. The
universal newborn hearing screening program, together with remarkable recent progress in …

Next-generation sequencing in genetic hearing loss

D Yan, M Tekin, SH Blanton, XZ Liu - Genetic testing and molecular …, 2013 - liebertpub.com
The advent of the $1000 genome has the potential to revolutionize the identification of
genes and their mutations underlying genetic disorders. This is especially true for extremely …

Non-syndromic hearing loss: clinical and diagnostic challenges

B Vona, J Doll, MAH Hofrichter, T Haaf - Medizinische genetik, 2020 - degruyter.com
Hereditary hearing loss is clinically and genetically heterogeneous. There are presently over
120 genes that have been associated with non-syndromic hearing loss and many more that …

Deafness in the genomics era

AE Shearer, MS Hildebrand, CM Sloan, RJH Smith - Hearing research, 2011 - Elsevier
Our understanding of hereditary hearing loss has greatly improved since the discovery of the
first human deafness gene. These discoveries have only accelerated due to the great strides …

Nonsyndromic hearing loss

L Van Laer, K Cryns, RJH Smith, G Van Camp - Ear and hearing, 2003 - journals.lww.com
The past decade has seen extremely rapid progress in the field of hereditary hearing loss.
To date, 80 loci for nonsyndromic hearing loss have been mapped to the human genome …

Hereditary hearing loss; about the known and the unknown

H Kremer - Hearing research, 2019 - Elsevier
Hereditary hearing loss is both clinically and genetically very heterogeneous. Despite the
large number of genes that have been associated with the condition, many cases remain …

Etiology of syndromic and nonsyndromic sensorineural hearing loss

N Gürtler, AK Lalwani - Otolaryngologic Clinics of North America, 2002 - oto.theclinics.com
Hearing loss is the most common sensory deficit in humans. Advances in molecular biology
and genetics have contributed substantially in the past decade to further our understanding …

DNA diagnostics of hereditary hearing loss: a targeted resequencing approach combined with a mutation classification system

M Sommen, I Schrauwen, G Vandeweyer… - Human …, 2016 - Wiley Online Library
Although there are nearly 100 different causative genes identified for nonsyndromic hearing
loss (NSHL), Sanger sequencing‐based DNA diagnostics usually only analyses three …