Structural brain abnormalities in a single gene disorder associated with epilepsy, language impairment and intellectual disability

by Joe Bathelt, Duncan Astle, Jessica Barnes, F. Lucy Raymond, Kate Baker
Published 2016-01-01

Rare Genetic Variation in 135 Families With Family History Suggestive of X-Linked Intellectual Disability

by Alba Sanchis-Juan, Alba Sanchis-Juan, Christina Bitsara, Kay Yi Low, Keren J. Carss, Keren J. Carss, Courtney E. French, Courtney E. French, Olivera Spasic-Boskovic, Joanna Jarvis, Michael Field, F. Lucy Raymond, F. Lucy Raymond, Detelina Grozeva
Published 2019-06-01

Structural analysis of pathogenic missense mutations in GABRA2 and identification of a novel de novo variant in the desensitization gate

by Alba Sanchis‐Juan, Marcia A. Hasenahuer, James A. Baker, Amy McTague, Katy Barwick, Manju A. Kurian, Sofia T. Duarte, NIHR BioResource, Keren J. Carss, Janet Thornton, F. Lucy Raymond
Published 2020-07-01

Complex structural variants in Mendelian disorders: identification and breakpoint resolution using short- and long-read genome sequencing

by Alba Sanchis-Juan, Jonathan Stephens, Courtney E. French, Nicholas Gleadall, Karyn Mégy, Christopher Penkett, Olga Shamardina, Kathleen Stirrups, Isabelle Delon, Eleanor Dewhurst, Helen Dolling, Marie Erwood, Detelina Grozeva, Luca Stefanucci, Gavin Arno, Andrew R. Webster, Trevor Cole, Topun Austin, Ricardo Garcia Branco, Willem H. Ouwehand, F. Lucy Raymond, Keren J. Carss
Published 2018-12-01

Correction: The psychiatric phenotypes of 1q21 distal deletion and duplication

by Stefanie C. Linden, Cameron J. Watson, Jacqueline Smith, Samuel J. R. A. Chawner, Thomas M. Lancaster, Ffion Evans, Nigel Williams, David Skuse, F. Lucy Raymond, Jeremy Hall, Michael J. Owen, David E. J. Linden, LeeAnne Green-Snyder, Wendy K. Chung, Anne M. Maillard, Sébastien Jacquemont, Marianne B. M. van den Bree
Published 2021-06-01

The psychiatric phenotypes of 1q21 distal deletion and duplication

by Stefanie C. Linden, Cameron J. Watson, Jacqueline Smith, Samuel J. R. A. Chawner, Thomas M. Lancaster, Ffion Evans, Nigel Williams, David Skuse, F. Lucy Raymond, Jeremy Hall, Michael J. Owen, David E. J. Linden, LeeAnne Green-Snyder, Wendy K. Chung, Anne M. Maillard, Sébastien Jacquemont, Marianne B. M. van den Bree
Published 2021-02-01

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 2021-01-01

Enabling Global Clinical Collaborations on Identifiable Patient Data: The Minerva Initiative

by Christoffer Nellåker, Christoffer Nellåker, Christoffer Nellåker, Fowzan S. Alkuraya, Gareth Baynam, Gareth Baynam, Gareth Baynam, Raphael A. Bernier, Francois P.J. Bernier, Vanessa Boulanger, Michael Brudno, Han G. Brunner, Jill Clayton-Smith, Benjamin Cogné, Hugh J.S. Dawkins, Hugh J.S. Dawkins, Hugh J.S. Dawkins, Bert B.A. deVries, Sofia Douzgou, Tracy Dudding-Byth, Evan E. Eichler, Evan E. Eichler, Michael Ferlaino, Michael Ferlaino, Karen Fieggen, Helen V. Firth, David R. FitzPatrick, Dylan Gration, Tudor Groza, Melissa Haendel, Nina Hallowell, Nina Hallowell, Nina Hallowell, Ada Hamosh, Jayne Hehir-Kwa, Marc-Phillip Hitz, Mark Hughes, Usha Kini, Tjitske Kleefstra, R Frank Kooy, Peter Krawitz, Sébastien Küry, Melissa Lees, Gholson J. Lyon, Stanislas Lyonnet, Julien L. Marcadier, Stephen Meyn, Veronika Moslerová, Juan M. Politei, Cathryn C. Poulton, F Lucy Raymond, Margot R.F. Reijnders, Peter N. Robinson, Corrado Romano, Catherine M. Rose, David C.G. Sainsbury, Lyn Schofield, Vernon R. Sutton, Marek Turnovec, Anke Van Dijck, Hilde Van Esch, Andrew O.M. Wilkie, The Minerva Consortium
Published 2019-07-01