Expanding Clinical Presentations Due to Variations in THOC2 mRNA Nuclear Export Factor

by Raman Kumar, Elizabeth Palmer, Elizabeth Palmer, Alison E. Gardner, Renee Carroll, Siddharth Banka, Siddharth Banka, Ola Abdelhadi, Dian Donnai, Dian Donnai, Ype Elgersma, Ype Elgersma, Cynthia J. Curry, Alice Gardham, Mohnish Suri, Rishikesh Malla, Lauren Ilana Brady, Mark Tarnopolsky, Dimitar N. Azmanov, Dimitar N. Azmanov, Vanessa Atkinson, Vanessa Atkinson, Michael Black, Michael Black, Gareth Baynam, Lauren Dreyer, Lauren Dreyer, Robin Z. Hayeems, Christian R. Marshall, Gregory Costain, Marja W. Wessels, Julia Baptista, James Drummond, Melanie Leffler, Michael Field, Jozef Gecz, Jozef Gecz
Published 2020-02-01

A flexible computational pipeline for research analyses of unsolved clinical exome cases

by Timo Lassmann, Richard W. Francis, Alexia Weeks, Dave Tang, Sarra E. Jamieson, Stephanie Broley, Hugh J. S. Dawkins, Lauren Dreyer, Jack Goldblatt, Tudor Groza, Benjamin Kamien, Cathy Kiraly-Borri, Fiona McKenzie, Lesley Murphy, Nicholas Pachter, Gargi Pathak, Cathryn Poulton, Amanda Samanek, Rachel Skoss, Jennie Slee, Sharron Townshend, Michelle Ward, Gareth S. Baynam, Jenefer M. Blackwell
Published 2020-12-01