Michael S. Hildebrand

GRIN2A mutations cause epilepsy-aphasia spectrum disorders

Gemma L. Carvill, Brigid M. Regan, Simone C. Yendle et al. · Nature Genetics · 2013 · 374 citations · Full text

Life Sciences, Genetics, Neuroscience +14

Comprehensive genetic testing for hereditary hearing loss using massively parallel sequencing

A. Eliot Shearer, Adam P. DeLuca, Michael S. Hildebrand et al. · Proceedings of the National Academy of Sciences · 2010 · 338 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy

Mikko Muona, Samuel F. Berkovic, Leanne M. Dibbens et al. · Nature Genetics · 2014 · 315 citations · Full text

Medicine, Genetics, Molecular Genetics +12

Human Male Infertility Caused by Mutations in the CATSPER1 Channel Protein

Matthew R. Avenarius, Michael S. Hildebrand, Yuzhou Zhang et al. · The American Journal of Human Genetics · 2009 · 280 citations · Full text

Medicine, Genetics, Molecular Genetics +13

Frequency of Usher syndrome in two pediatric populations: Implications for genetic screening of deaf and hard of hearing children

William J. Kimberling, Michael S. Hildebrand, A. Eliot Shearer et al. · Genetics in Medicine · 2010 · 270 citations · Full text

Medicine, Genetics, Pediatrics +16