A. Shealy

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

C. Eng, A. Patócs, K. Zbuk, 2007, Nature Clinical Practice Oncology.

Pathogenic mechanism of recurrent mutations of SCN8A in epileptic encephalopathy

Jacy L. Wagnon, M. Meisler, S. Parikh, 2015, Annals of clinical and translational neurology.

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

Stephanie E. Vallee, J. Rosenfeld, E. Eichler, 2012, Human mutation.

Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations

R. Hennekam, L. Biesecker, J. Graham, 2010, Human mutation.

Assessment of clinical workload for general and specialty genetic counsellors at an academic medical center: a tool for evaluating genetic counselling practices

C. Eng, L. Rybicki, J. Mester, 2016, npj Genomic Medicine.

Mutations in the Human UBR1 Gene and the Associated Phenotypic Spectrum

F. Alkuraya, J. Mayerle, M. Lerch, 2014, Human mutation.

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

M. Zenker, N. Alkhouri, Barbara Kaplan, 2008, World journal of gastroenterology.

Mutations in the Human UBR1 Gene and the Associated Phenotypic Spectrum

F. Alkuraya, J. Mayerle, M. Lerch, 2014, Human mutation.

Patient Decisions to Receive Secondary Pharmacogenomic Findings and Development of a Multidisciplinary Practice Model to Integrate Results Into Patient Care

C. Eng, M. Natowicz, A. Shealy, 2017, Clinical and translational science.

Differential outcomes in patients treated with endocrine therapy for early or locally advanced breast cancer based on BRCA mutation status.

A. Shealy, H. Moore, R. Wesolowski, 2009, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.