Broadening the phenotype of the TWNK gene associated Perrault syndrome

wANNOVAR: annotating genetic variants for personal genomes via the web

Xiao Chang, Kai Wang · Journal of Medical Genetics · 2012 · 440 citations · Full text

Twinkle helicase is essential for mtDNA maintenance and regulates mtDNA copy number

Henna Tyynismaa, Hiroshi Sembongi, Monika Bokori-Brown et al. · Human Molecular Genetics · 2004 · 240 citations · Full text

Infantile onset spinocerebellar ataxia is caused by recessive mutations in mitochondrial proteins Twinkle and Twinky

Kaisu Nikali, Anu Suomalainen, Juha Saharinen et al. · Human Molecular Genetics · 2005 · 219 citations · Full text

Mitochondrial Proteins Twinkle, Genetics, Molecular Biology +17

TWINKLE is an essential mitochondrial helicase required for synthesis of nascent D-loop strands and complete mtDNA replication

Dusanka Milenkovic, Sanja Matić, Inge Kühl et al. · Human Molecular Genetics · 2013 · 164 citations · Full text

Genetics, Molecular Biology, Twinkle Knockout +16

Mutations in Twinkle primase-helicase cause Perrault syndrome with neurologic features

Hiroyuki Morino, Sarah B. Pierce, Yukiko Matsuda et al. · Neurology · 2014 · 106 citations · Full text