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

Abundancy of polymorphic CGG repeats in the human genome suggest a broad involvement in neurological disease

by Dale J. Annear, Geert Vandeweyer, Ellen Elinck, Alba Sanchis-Juan, Courtney E. French, Lucy Raymond, R. Frank Kooy
Published 2021-01-01

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

Nuclear-mitochondrial DNA segments resemble paternally inherited mitochondrial DNA in humans

by Wei Wei, Alistair T. Pagnamenta, Nicholas Gleadall, Alba Sanchis-Juan, Jonathan Stephens, John Broxholme, Salih Tuna, Christopher A. Odhams, Genomics England Research Consortium, NIHR BioResource, Carl Fratter, Ernest Turro, Mark J. Caulfield, Jenny C. Taylor, Shamima Rahman, Patrick F. Chinnery
Published 2020-04-01

Author Correction: Nuclear-mitochondrial DNA segments resemble paternally inherited mitochondrial DNA in humans

by Wei Wei, Alistair T. Pagnamenta, Nicholas Gleadall, Alba Sanchis-Juan, Jonathan Stephens, John Broxholme, Salih Tuna, Christopher A. Odhams, Genomics England Research Consortium, NIHR BioResource, Carl Fratter, Ernest Turro, Mark J. Caulfield, Jenny C. Taylor, Shamima Rahman, Patrick F. Chinnery
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