Amy Shealy

Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations

Jennifer J. Johnston, Julie C. Sapp, Joyce Turner et al. · Human Mutation · 2010 · 129 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

Pathogenic mechanism of recurrent mutations of <scp><i>SCN8A</i></scp> in epileptic encephalopathy

Jacy L. Wagnon, Bryan S. Barker, James A. Hounshell et al. · Annals of Clinical and Translational Neurology · 2015 · 111 citations · Full text

Life Sciences, Genetics, Neuroscience +17

Haploinsufficiency of<i>SOX5</i>at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features

Allen N. Lamb, Jill A. Rosenfeld, Nicholas J. Neill et al. · Human Mutation · 2012 · 104 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Johanson-Blizzard syndrome with mild phenotypic features confirmed by UBR1 gene testing

Naim Alkhouri, Barbara Kaplan, Marsha Kay et al. · World Journal of Gastroenterology · 2008 · 37 citations · Full text

Medicine, Endocrinology, Genetics +17

Germline mutations in PTEN and SDHC in a woman with epithelial thyroid cancer and carotid paraganglioma

Kevin Zbuk, Attila Patócs, Amy Shealy et al. · Nature Clinical Practice Oncology · 2007 · 35 citations

Medicine, Molecular Genetics, Oncology +16