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- Tom Walsh, Sarah B Pierce, +14 authors Karen B. Avraham
- American journal of human genetics
- 2010
Age-related hearing loss is due to death over time, primarily by apoptosis, of hair cells in the inner ear. Studies of mutant genes responsible for inherited progressive hearing loss have suggested… (More)
- Zippora Brownstein, Lilach M Friedman, +18 authors Karen B. Avraham
- Genome Biology
- 2011
BackgroundIdentification of genes responsible for medically important traits is a major challenge in human genetics. Due to the genetic heterogeneity of hearing loss, targeted DNA capture and… (More)
- Hilal Unal Gulsuner, Suleyman Gulsuner, +12 authors Ayse B Tekinay
- Proceedings of the National Academy of Sciences…
- 2014
Essential tremor is one of the most frequent movement disorders of humans and can be associated with substantial disability. Some but not all persons with essential tremor develop signs of Parkinson… (More)
- Kemal O. Yariz, Duygu Duman, +27 authors Mustafa Tekin
- American journal of human genetics
- 2012
Hereditary hearing loss is characterized by a high degree of genetic heterogeneity. Here we present OTOGL mutations, a homozygous one base pair deletion (c.1430 delT) causing a frameshift… (More)
- Dan Doherty, Albert E. Chudley, +15 authors T Zelinski
- American journal of human genetics
- 2012
Autosomal-recessive inheritance, severe to profound sensorineural hearing loss, and partial agenesis of the corpus callosum are hallmarks of the clinically well-established Chudley-McCullough… (More)
- Aslı Sırmacı, Seyra Erbek, +22 authors Mustafa Tekin
- American journal of human genetics
- 2010
More than 270 million people worldwide have hearing loss that affects normal communication. Although astonishing progress has been made in the identification of more than 50 genes for deafness during… (More)
- Hilal Unal Gulsuner, Suleyman Gulsuner, +12 authors Ayse B. Tekinay
- Proceedings of the National Academy of Sciences…
- 2015
In addressing our recent report of HTRA2 p.G399S as the gene and mutation responsible for essential tremor and subsequent Parkinson disease in a large kindred (1), Tzoulis et al. (2) screened this… (More)