Kathleen S. Hruska

Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing

Lisa R. Susswein, Megan L. Marshall, Rachel Nusbaum et al. · Genetics in Medicine · 2015 · 281 citations · Full text

MSH6 and PMS2 germ-line pathogenic variants implicated in Lynch syndrome are associated with breast cancer

Maegan E. Roberts, Sarah A. Jackson, Lisa R. Susswein et al. · Genetics in Medicine · 2018 · 168 citations · Full text

Gene‐specific criteria for <i>PTEN</i> variant curation: Recommendations from the ClinGen PTEN Expert Panel

Jessica L. Mester, Rajarshi Ghosh, Tina Pesaran et al. · Human Mutation · 2018 · 165 citations · Full text

Gene‐specific Criteria, Genetics, Genetic Epidemiology +19

Comparison of<i> CDH1</i> Penetrance Estimates in Clinically Ascertained Families vs Families Ascertained for Multiple Gastric Cancers

Maegan E. Roberts, John Michael O. Rañola, Megan L. Marshall et al. · JAMA Oncology · 2019 · 157 citations · Full text

Glucocerebrosidase mutations in Chinese subjects from Taiwan with sporadic Parkinson disease

Shira G. Ziegler, Michael J. Eblan, Usha Gutti et al. · Molecular Genetics and Metabolism · 2007 · 107 citations · Full text

Chinese Subjects, Mendelian Disorder, Genetics +9