Annotating pathogenic non-coding variants in genic regions

por Sahar Gelfman, Quanli Wang, K. Melodi McSweeney, Zhong Ren, Francesca La Carpia, Matt Halvorsen, Kelly Schoch, Fanni Ratzon, Erin L. Heinzen, Michael J. Boland, Slavé Petrovski, David B. Goldstein
Publicado 2017

Identification of a missense variant in SPDL1 associated with idiopathic pulmonary fibrosis

por Ryan S. Dhindsa, Johan Mattsson, Abhishek Nag, Quanli Wang, Louise V. Wain, Richard Allen, Eleanor M. Wigmore, Kristina Ibanez, Dimitrios Vitsios, Sri V. V. Deevi, Sebastian Wasilewski, Maria Karlsson, Glenda Lassi, Henric Olsson, Daniel Muthas, Susan Monkley, Alex Mackay, Lynne Murray, Simon Young, Carolina Haefliger, FinnGen Consortium, Toby M. Maher, Maria G. Belvisi, Gisli Jenkins, Philip L. Molyneaux, Adam Platt, Slavé Petrovski
Publicado 2021