Kwanghyuk Lee

Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48

Saima Riazuddin, Inna A. Belyantseva, Arnaud P. J. Giese et al. · Nature Genetics · 2012 · 247 citations · Full text

Nonsyndromic Deafness Dfnb48, Type 1J, Signal Transduction +7

Perrault Syndrome Is Caused by Recessive Mutations in CLPP, Encoding a Mitochondrial ATP-Dependent Chambered Protease

Emma M. Jenkinson, Atteeq U. Rehman, Tom Walsh et al. · The American Journal of Human Genetics · 2013 · 238 citations · Full text

Mitochondrial Function, Genetic Disorder, Medicine +7

Location of the mouse complement factor H gene (<i>cfh</i>) by FISH analysis and replication R-banding

Yoichi Matsuda, Yosuke Harada, S Natsuume-Sakai et al. · Cytogenetic and Genome Research · 1992 · 200 citations

A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism

Patrícia B. S. Celestino-Soper, Sara Violante, Emily L. Crawford et al. · Proceedings of the National Academy of Sciences · 2012 · 140 citations

Mutations of ESRRB Encoding Estrogen-Related Receptor Beta Cause Autosomal-Recessive Nonsyndromic Hearing Impairment DFNB35

Rob W.J. Collin, Ersan Kalay, Muhammad Tariq et al. · The American Journal of Human Genetics · 2008 · 128 citations · Full text

Developmental Biology, Genetics, Audiology +7