EyeG2P: an automated variant filtering approach improves efficiency of diagnostic genomic testing for inherited ophthalmic disordersEva Lenassi, Ana Carvalho, Anja Thormann, Liam Abrahams, Gavin Arno, Tracy Fletcher, Claire Hardcastle, Javier Lopez, Sarah E Hunt, Patrick Short, Panagiotis I Sergouniotis, Michel Michaelides, Andrew Webster, Fiona Cunningham, Simon C RamsdenSee the full list of authors
20 January 2023
Transcript capture and ultradeep long-read RNA sequencing (CAPLRseq) to diagnose HNPCC/Lynch syndromeVincent Schwenk, Rafaela Magalhaes Leal Silva, Florentine Scharf, Katharina Knaust, Martin Wendlandt, Tanja Häusser, Julia M A Pickl, Verena Steinke-Lange, Andreas Laner, Monika Morak, Elke Holinski-Feder, Dieter A Wolf
2 January 2023
FXN gene methylation determines carrier status in Friedreich ataxiaChristina Lam, Kaitlyn M Gilliam, Layne N Rodden, Kimberly A Schadt, David R Lynch, Sanjay Bidichandani
12 January 2023
Psychopathology in mothers of children with pathogenic Copy Number VariantsMaria Niarchou, Adam C. Cunningham, Samuel J. R. A. Chawner, Hayley Moulding, Matthew Sopp, IMAGINE-ID, Jeremy Hall, Michael J. Owen, Marianne B.M. van den Bree, IMAGINE-ID, Kate Baker, Eleanor Dewhurst, Amy Lafont, F. Lucy Raymond, Terry ShirleySee the full list of authors
29 November 2022
Population-based analysis of POT1 variants in a cutaneous melanoma case–control cohortIrving Simonin-Wilmer, Raul Ossio, Emmett M Leddin, Mark Harland, Karen A Pooley, Mauricio Gerardo Martil de la Garza, Sofia Obolenski, James Hewinson, Chi C Wong, Vivek Iyer, John C Taylor, Julia A Newton-Bishop, D Timothy Bishop, Gerardo Andrés Cisneros, Mark M IlesSee the full list of authors
20 December 2022
Long-term multisystemic efficacy of migalastat on Fabry-associated clinical events, including renal, cardiac and cerebrovascular outcomesDerralynn A Hughes, Daniel G Bichet, Roberto Giugliani, Robert J Hopkin, Eva Krusinska, Kathleen Nicholls, Iacopo Olivotto, Ulla Feldt-Rasmussen, Norio Sakai, Nina Skuban, Gere Sunder-Plassmann, Roser Torra, William R Wilcox
21 December 2022
Craniosynostosis, inner ear, and renal anomalies in a child with complete loss of SPRY1 (sprouty homolog 1) functionRebecca S Tooze, Eduardo Calpena, Stephen R F Twigg, Felice D’Arco, The Genomics England Research Consortium, Emma L Wakeling, Andrew O M Wilkie, The Genomics England Research Consortium, J C Ambrose, P Arumugam, R Bevers, M Bleda, F Boardman-Pretty, CR Boustred, H BrittainSee the full list of authors
21 December 2022
Germline mismatch repair (MMR) gene analyses from English NHS regional molecular genomics laboratories 1996–2020: development of a national resource of patient-level genomics laboratory recordsLucy Loong, Catherine Huntley, Fiona McRonald, Francesco Santaniello, Joanna Pethick, Bethany Torr, Sophie Allen, Oliver Tulloch, Shilpi Goel, Brian Shand, Tameera Rahman, Margreet Luchtenborg, Alice Garrett, Richard Barber, Tina BedenhamSee the full list of authors
26 December 2022
Characterising heart rhythm abnormalities associated with Xp22.31 deletionGeorgina Wren, Emily Baker, Jack Underwood, Trevor Humby, Andrew Thompson, George Kirov, Valentina Escott-Price, William Davies
15 November 2022
Germline mutations in WNK2 could be associated with serrated polyposis syndromeYasmin Soares de Lima, Coral Arnau-Collell, Jenifer Muñoz, Cristina Herrera-Pariente, Leticia Moreira, Teresa Ocaña, Marcos Díaz-Gay, Sebastià Franch-Expósito, Miriam Cuatrecasas, Sabela Carballal, Anael Lopez-Novo, Lorena Moreno, Guerau Fernàndez, Aranzazu Díaz de Bustamante, Sophia PetersSee the full list of authors
21 October 2022
