1. High-throughput mutation analysis in patients with a nephronophthisis-associated ciliopathy applying multiplexed barcoded array-based PCR amplification and next-generation sequencing. Issue 12 (27th November 2012) Authors: Halbritter, Jan; Diaz, Katrina; Chaki, Moumita; Porath, Jonathan D; Tarrier, Brendan; Fu, Clementine; Innis, Jamie L; Allen, Susan J; Lyons, Robert H; Stefanidis, Constantinos J; Omran, Heymut; Soliman, Neveen A; Otto, Edgar A Journal: Journal of medical genetics Issue: Volume 49:Issue 12(2012) Page Start: 756 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy. Issue 2 (10th November 2010) Authors: Otto, Edgar A; Ramaswami, Gokul; Janssen, Sabine; Chaki, Moumita; Allen, Susan J; Zhou, Weibin; Airik, Rannar; Hurd, Toby W; Ghosh, Amiya K; Wolf, Matthias T; Hoppe, Bernd; Neuhaus, Thomas J; Bockenhauer, Detlef; Milford, David V; Soliman, Neveen A; Antignac, Corinne; Saunier, Sophie; Johnson, Co... Journal: Journal of medical genetics Issue: Volume 48:Issue 2(2011) Page Start: 105 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗