Erin Thorpe

Copy-number variants in clinical genome sequencing: deployment and interpretation for rare and undiagnosed disease

Andrew M. Gross, Subramanian S. Ajay, Vani Rajan et al. · Genetics in Medicine · 2018 · 126 citations · Full text

The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change

Heidi L. Rehm, Joseph T. Alaimo, Swaroop Aradhya et al. · Genetics in Medicine · 2023 · 112 citations · Full text

Genome-wide Association Study, Genetic Analysis, Next-generation Sequencing +6

Clinical whole genome sequencing as a first-tier test at a resource-limited dysmorphology clinic in Mexico

Alicia Scocchia, Kristen Wigby, Diane Masser‐Frye et al. · npj Genomic Medicine · 2019 · 89 citations · Full text

The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change

Heidi L. Rehm, Joseph T. Alaimo, Swaroop Aradhya et al. · 2022 · 24 citations · Full text

X-linked neonatal-onset epileptic encephalopathy associated with a gain-of-function variant p.R660T in GRIA3

Jiahui Sun, Jiang Chen, Fernando Eduardo Ayala Valenzuela et al. · PLoS Genetics · 2021 · 23 citations · Full text

Brain Development, Genetics, Synaptic Transmission +18