Sian Ellard

Assessing performance of pathogenicity predictors using clinically relevant variant datasets

Adam C. Gunning, Verity Fryer, James Fasham, 2020, Journal of Medical Genetics.

Assessing performance of pathogenicity predictors using clinically relevant variant datasets

Verity Fryer, James Fasham, Sian Ellard, 2020, Journal of Medical Genetics.

Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework

Steven E. Brenner, Xi Luo, Lea M. Starita, 2019, Genome Medicine.

Genomic variant sharing: a position statement

Sian Ellard, Caroline F. Wright, Helen V. Firth, 2019, Wellcome Open Research.

Misannotation of multiple-nucleotide variants risks misdiagnosis

Sian Ellard, Emma L. Baple, Andrew Parish, 2019, Wellcome Open Research.