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Human Genetics|November 15, 2022
SCIP: software for efficient clinical interpretation of copy number variants detected by whole-genome sequencingQiliang Ding, Cherith Somerville, Roozbeh Manshaei, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 11, 2020
The Cardiac Genome Clinic: implementing genome sequencing in pediatric heart diseaseMiriam S Reuter, Rajiv R Chaturvedi, Eriskay Liston, et al.
Frontiers in Genetics|October 28, 2020
Genes and Pathways Implicated in Tetralogy of Fallot Revealed by Ultra-Rare Variant Burden Analysis in 231 Genome SequencesRoozbeh Manshaei, Daniele Merico, Miriam S Reuter, et al.
The Prostate|August 22, 2019
A three-gene DNA methylation biomarker accurately classifies early stage prostate cancerPalak G Patel, Thomas Wessel, Atsunari Kawashima, et al.
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