Cornelia de Lange syndrome-associated mutations cause a DNA damage signalling and repair defect

by Gabrielle Olley, Madapura M. Pradeepa, Graeme R. Grimes, Sandra Piquet, Sophie E. Polo, David R. FitzPatrick, Wendy A. Bickmore, Charlene Boumendil
Published 2021

Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP

by Anja Thormann, Mihail Halachev, William McLaren, David J. Moore, Victoria Svinti, Archie Campbell, Shona M. Kerr, Marc Tischkowitz, Sarah E. Hunt, Malcolm G. Dunlop, Matthew E. Hurles, Caroline F. Wright, Helen V. Firth, Fiona Cunningham, David R. FitzPatrick
Published 2019

Contribution of retrotransposition to developmental disorders

by Eugene J. Gardner, Elena Prigmore, Giuseppe Gallone, Petr Danecek, Kaitlin E. Samocha, Juliet Handsaker, Sebastian S. Gerety, Holly Ironfield, Patrick J. Short, Alejandro Sifrim, Tarjinder Singh, Kate E. Chandler, Emma Clement, Katherine L. Lachlan, Katrina Prescott, Elisabeth Rosser, David R. FitzPatrick, Helen V. Firth, Matthew E. Hurles
Published 2019

The contribution of X-linked coding variation to severe developmental disorders

by Hilary C. Martin, Eugene J. Gardner, Kaitlin E. Samocha, Joanna Kaplanis, Nadia Akawi, Alejandro Sifrim, Ruth Y. Eberhardt, Ana Lisa Taylor Tavares, Matthew D. C. Neville, Mari E. K. Niemi, Giuseppe Gallone, Jeremy McRae, Deciphering Developmental Disorders Study, Caroline F. Wright, David R. FitzPatrick, Helen V. Firth, Matthew E. Hurles
Published 2021

Identification and functional modelling of plausibly causative cis-regulatory variants in a highly-selected cohort with X-linked intellectual disability.

by Hemant Bengani, Detelina Grozeva, Lambert Moyon, Shipra Bhatia, Susana R Louros, Jilly Hope, Adam Jackson, James G Prendergast, Liusaidh J Owen, Magali Naville, Jacqueline Rainger, Graeme Grimes, Mihail Halachev, Laura C Murphy, Olivera Spasic-Boskovic, Veronica van Heyningen, Peter Kind, Catherine M Abbott, Emily Osterweil, F Lucy Raymond, Hugues Roest Crollius, David R FitzPatrick
Published 2021