R. Curtis Rogers

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 · 371 citations · Full text

Life Sciences, Molecular Biology, Molecular Genetics +4

Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy

Thomas Cullup, Ay Lin Kho, Carlo Dionisi‐Vici et al. · Nature Genetics · 2012 · 280 citations

Life Sciences, Genetics, Molecular Genetics +14

Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants

Jennifer J. Johnston, Jasper J. van der Smagt, Jill A. Rosenfeld et al. · Genetics in Medicine · 2018 · 220 citations

Life Sciences, Genetics, Molecular Genetics +7

A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome

Hiba Risheg, John M. Graham, Robin D. Clark et al. · Nature Genetics · 2007 · 195 citations

Life Sciences, Genetics, Molecular Genetics +5

Polymicrogyria and deletion 22q11.2 syndrome: Window to the etiology of a common cortical malformation

Nathaniel H. Robin, Clare Taylor, Donna M. McDonald‐McGinn et al. · American Journal of Medical Genetics Part A · 2006 · 148 citations · Full text

Medicine, Neurology, Neuroscience +17