Erika Palmaer

Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients

Holly LaDuca, Aaron J. Stuenkel, Jill S. Dolinsky et al. · Genetics in Medicine · 2014 · 335 citations · Full text

Patient decisions for disclosure of secondary findings among the first 200 individuals undergoing clinical diagnostic exome sequencing

Layla Shahmirzadi, Elizabeth Chao, Erika Palmaer et al. · Genetics in Medicine · 2013 · 116 citations · Full text

De novo ITPR1 variants are a recurrent cause of early-onset ataxia, acting via loss of channel function

Matthis Synofzik, Katherine L. Helbig, Florian Harmuth et al. · European Journal of Human Genetics · 2018 · 43 citations · Full text

Molecular Neuroscience, Genetic Disorder, Genetics +9

Clinical diagnostic exome sequencing in dystonia: Genetic testing challenges for complex conditions

Zöe Powis, Meghan C. Towne, Kelly D. Farwell Hagman et al. · Clinical Genetics · 2019 · 29 citations

Clinical diagnostic exome evaluation for an infant with a lethal disorder: genetic diagnosis of TARP syndrome and expansion of the phenotype in a patient with a newly reported RBM10 alteration

Zöe Powis, Alexa Hart, Sara Cherny et al. · BMC Medical Genetics · 2017 · 25 citations · Full text