Characterising and predicting haploinsufficiency in the human genome.

by Ni Huang, Insuk Lee, Edward M Marcotte, Matthew E Hurles
Published 2010-10-01

Similarities and differences in patterns of germline mutation between mice and humans

by Sarah J. Lindsay, Raheleh Rahbari, Joanna Kaplanis, Thomas Keane, Matthew E. Hurles
Published 2019-09-01

Exome Sequencing in Fetuses with Structural Malformations

by Fiona L. Mackie, Keren J. Carss, Sarah C. Hillman, Matthew E. Hurles, Mark D. Kilby
Published 2014-07-01

The rate of nonallelic homologous recombination in males is highly variable, correlated between monozygotic twins and independent of age.

by Jacqueline A L MacArthur, Timothy D Spector, Sarah J Lindsay, Massimo Mangino, Raj Gill, Kerrin S Small, Matthew E Hurles
Published 2014-03-01

Returning genome sequences to research participants: Policy and practice [version 1; referees: 2 approved]

by Caroline F. Wright, Anna Middleton, Jeffrey C. Barrett, Helen V. Firth, David R. FitzPatrick, Matthew E. Hurles, Michael Parker
Published 2017-02-01

A genome-wide assessment of the role of untagged copy number variants in type 1 diabetes.

by Manuela Zanda, Suna Onengut-Gumuscu, Neil Walker, Corina Shtir, Daniel Gallo, Chris Wallace, Deborah Smyth, John A Todd, Matthew E Hurles, Vincent Plagnol, Stephen S Rich
Published 2014-01-01

Estimating the human mutation rate from autozygous segments reveals population differences in human mutational processes

by Vagheesh M. Narasimhan, Raheleh Rahbari, Aylwyn Scally, Arthur Wuster, Dan Mason, Yali Xue, John Wright, Richard C. Trembath, Eamonn R. Maher, David A. van Heel, Adam Auton, Matthew E. Hurles, Chris Tyler-Smith, Richard Durbin
Published 2017-08-01

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 2019-05-01

NDUFA4 Mutations Underlie Dysfunction of a Cytochrome c Oxidase Subunit Linked to Human Neurological Disease

by Robert D.S. Pitceathly, Shamima Rahman, Yehani Wedatilake, James M. Polke, Sebahattin Cirak, A. Reghan Foley, Anna Sailer, Matthew E. Hurles, Jim Stalker, Iain Hargreaves, Cathy E. Woodward, Mary G. Sweeney, Francesco Muntoni, Henry Houlden, Jan-Willem Taanman, Michael G. Hanna
Published 2013-07-01

NDUFA4 Mutations Underlie Dysfunction of a Cytochrome c Oxidase Subunit Linked to Human Neurological Disease

by Robert D.S. Pitceathly, Shamima Rahman, Yehani Wedatilake, James M. Polke, Sebahattin Cirak, A. Reghan Foley, Anna Sailer, Matthew E. Hurles, Jim Stalker, Iain Hargreaves, Cathy E. Woodward, Mary G. Sweeney, Francesco Muntoni, Henry Houlden, Jan-Willem Taanman, Michael G. Hanna
Published 2013-06-01

Dynamic changes in the epigenomic landscape regulate human organogenesis and link to developmental disorders

by Dave T. Gerrard, Andrew A. Berry, Rachel E. Jennings, Matthew J. Birket, Peyman Zarrineh, Myles G. Garstang, Sarah L. Withey, Patrick Short, Sandra Jiménez-Gancedo, Panos N. Firbas, Ian Donaldson, Andrew D. Sharrocks, Karen Piper Hanley, Matthew E. Hurles, José Luis Gomez-Skarmeta, Nicoletta Bobola, Neil A. Hanley
Published 2020-08-01

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 2019-10-01

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 2021-01-01

Genetic analysis of completely sequenced disease-associated MHC haplotypes identifies shuffling of segments in recent human history.

by James A Traherne, Roger Horton, Anne N Roberts, Marcos M Miretti, Matthew E Hurles, C Andrew Stewart, Jennifer L Ashurst, Alexey M Atrazhev, Penny Coggill, Sophie Palmer, Jeff Almeida, Sarah Sims, Laurens G Wilming, Jane Rogers, Pieter J de Jong, Mary Carrington, John F Elliott, Stephen Sawcer, John A Todd, John Trowsdale, Stephan Beck
Published 2006-01-01

Human spermatogenic failure purges deleterious mutation load from the autosomes and both sex chromosomes, including the gene DMRT1.

by Alexandra M Lopes, Kenneth I Aston, Emma Thompson, Filipa Carvalho, João Gonçalves, Ni Huang, Rune Matthiesen, Michiel J Noordam, Inés Quintela, Avinash Ramu, Catarina Seabra, Amy B Wilfert, Juncheng Dai, Jonathan M Downie, Susana Fernandes, Xuejiang Guo, Jiahao Sha, António Amorim, Alberto Barros, Angel Carracedo, Zhibin Hu, Matthew E Hurles, Sergey Moskovtsev, Carole Ober, Darius A Paduch, Joshua D Schiffman, Peter N Schlegel, Mário Sousa, Douglas T Carrell, Donald F Conrad
Published 2013-03-01

Integrative analysis of genomic variants reveals new associations of candidate haploinsufficient genes with congenital heart disease.

by Enrique Audain, Anna Wilsdon, Jeroen Breckpot, Jose M G Izarzugaza, Tomas W Fitzgerald, Anne-Karin Kahlert, Alejandro Sifrim, Florian Wünnemann, Yasset Perez-Riverol, Hashim Abdul-Khaliq, Mads Bak, Anne S Bassett, Woodrow D Benson, Felix Berger, Ingo Daehnert, Koenraad Devriendt, Sven Dittrich, Piers Ef Daubeney, Vidu Garg, Karl Hackmann, Kirstin Hoff, Philipp Hofmann, Gregor Dombrowsky, Thomas Pickardt, Ulrike Bauer, Bernard D Keavney, Sabine Klaassen, Hans-Heiner Kramer, Christian R Marshall, Dianna M Milewicz, Scott Lemaire, Joseph S Coselli, Michael E Mitchell, Aoy Tomita-Mitchell, Siddharth K Prakash, Karl Stamm, Alexandre F R Stewart, Candice K Silversides, Reiner Siebert, Brigitte Stiller, Jill A Rosenfeld, Inga Vater, Alex V Postma, Almuth Caliebe, J David Brook, Gregor Andelfinger, Matthew E Hurles, Bernard Thienpont, Lars Allan Larsen, Marc-Phillip Hitz
Published 2021-07-01