Christin D Collins

Scaling resolution of variant classification differences in ClinVar between 41 clinical laboratories through an outlier approach

Soma Das, Heidi L Rehm, Brian H Shirts, 2018, Human mutation.

Copy number variant discrepancy resolution using the ClinGen dosage sensitivity map results in updated clinical interpretations in ClinVar

Erin R Riggs, Christa L Martin, E. Thorland, 2018, Human mutation.

The role of clinical response to treatment in determining pathogenicity of genomic variants

M. Hegde, M. Huigen, L. Kluijtmans, 2020, Genetics in medicine : official journal of the American College of Medical Genetics.