Haris Kokotas

A Truncating Mutation in SERPINB6 Is Associated with Autosomal-Recessive Nonsyndromic Sensorineural Hearing Loss

Aslı Sırmacı, Seyra Erbek, Justin Price et al. · The American Journal of Human Genetics · 2010 · 72 citations · Full text

Developmental Biology, Mendelian Disorder, Genetic Disorder +11

SLITRK6 mutations cause myopia and deafness in humans and mice

Mustafa Tekin, Barry A. Chioza, Yoshifumi Matsumoto et al. · Journal of Clinical Investigation · 2013 · 66 citations · Full text

Knockout Mouse, Developmental Biology, Molecular Neuroscience +12

High frequency of the <i>TARDBP</i> p.Ala382Thr mutation in Sardinian patients with amyotrophic lateral sclerosis

Sandro Orrù, Emmanouil Manolakos, Nicola Orrù et al. · Clinical Genetics · 2011 · 56 citations · Full text

Neurological Disorder, Genetics, Genetic Epidemiology +26

Pathologic, radiographic and molecular findings in three fetuses diagnosed with HEM/Greenberg skeletal dysplasia

Anastasia Konstantinidou, Charalampos Karadimas, Hans R. Waterham et al. · Prenatal Diagnosis · 2008 · 50 citations

Multiple enhancers located in a 1-Mb region upstream of POU3F4 promote expression during inner ear development and may be required for hearing

Silvia Naranjo, Krysta Voesenek, Elisa de la Calle‐Mustienes et al. · Human Genetics · 2010 · 37 citations · Full text