Richard J. Simensen

Autism and maternally derived aberrations of chromosome 15q

Richard J. Schroer, Mary C. Phelan, Ron C. Michaelis et al. · American Journal of Medical Genetics · 1998 · 372 citations

Allan-Herndon-Dudley Syndrome and the Monocarboxylate Transporter 8 (MCT8) Gene

Charles E. Schwartz, Melanie May, Nancy J. Carpenter et al. · The American Journal of Human Genetics · 2005 · 366 citations · Full text

Molecular Physiology, Mendelian Disorder, Genetic Disorder +5

Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation

Patrick Tarpey, F. Lucy Raymond, Lam Son Nguyen et al. · Nature Genetics · 2007 · 284 citations · Full text

Developmental Biology, Genetic Disorder, Genetics +7

Recurrent Infections, Hypotonia, and Mental Retardation Caused by Duplication of <i>MECP2</i> and Adjacent Region in Xq28

Michael J. Friez, Julie R. Jones, Katie Clarkson et al. · PEDIATRICS · 2006 · 190 citations

X-linked spermine synthase gene (SMS) defect: the first polyamine deficiency syndrome

A Lauren Cason, Yoshihiko Ikeguchi, Cindy Skinner et al. · European Journal of Human Genetics · 2003 · 173 citations · Full text

Spermatogenesis, Infertility, Developmental Biology +8