1. High-throughput single-molecule mapping links subtelomeric variants and long-range haplotypes with specific telomeres. Issue 9 (9th February 2017) Authors: Young, Eleanor; Pastor, Steven; Rajagopalan, Ramakrishnan; McCaffrey, Jennifer; Sibert, Justin; Mak, Angel C.Y.; Kwok, Pui-Yan; Riethman, Harold; Xiao, Ming Journal: Nucleic acids research Issue: Volume 45:Issue 9(2017) Page Start: e73 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Three patients with homozygous familial hypercholesterolemia: Genomic sequencing and kindred analysis. Issue 12 (16th October 2019) Authors: Wong, Karen H.Y.; Levy‐Sakin, Michal; Ma, Walfred; Gonzaludo, Nina; Mak, Angel C.Y.; Vaka, Dedeepya; Poon, Annie; Chu, Catherine; Lao, Richard; Balamir, Melek; Grenville, Zoe; Wong, Nicolas; Kane, John P.; Kwok, Pui‐Yan; Malloy, Mary J.; Pullinger, Clive R. Journal: Molecular genetics & genomic medicine Issue: Volume 7:Issue 12(2019) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗