Kay Gurtz

Infantile-onset symptomatic epilepsy syndrome caused by a homozygous loss-of-function mutation of GM3 synthase

Michael A. Simpson, Christos Proukakis, David A. Priestman et al. · Nature Genetics · 2004 · 385 citations

Life Sciences, Genetics, Molecular Genetics +16

Defective Mitochondrial mRNA Maturation Is Associated with Spastic Ataxia

Andrew H. Crosby, Heema Patel, Barry A. Chioza et al. · The American Journal of Human Genetics · 2010 · 87 citations · Full text

Life Sciences, Molecular Genetics, Neuroscience +14

Homozygous mutation of <i>MYBPC3</i> associated with severe infantile hypertrophic cardiomyopathy at high frequency among the Amish

Kenneth Zahka, Kamini Kalidas, Michael A. Simpson et al. · Heart · 2008 · 76 citations

Medicine, Cardiology, Genetics +17

SLITRK6 mutations cause myopia and deafness in humans and mice

Mustafa Tekin, Barry A. Chioza, Yoshifumi Matsumoto et al. · Journal of Clinical Investigation · 2013 · 68 citations · Full text

Medicine, Genetics, Molecular Genetics +17