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 Brittain
See the full list of authors21 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 Bedenham
See the full list of authors26 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 Peters
See the full list of authors21 October 2022
Genetic diagnosis of Duchenne and Becker muscular dystrophy through mRNA analysis: new splicing eventsAlba Segarra-Casas, Cristina Domínguez-González, Aurelio Hernández-Laín, Maria Teresa Sanchez-Calvin, Ana Camacho, Eloy Rivas, Andrea Campo-Barasoain, Marcos Madruga, Carlos Ortez, Daniel Natera-de Benito, Andrés Nascimento, Anna Codina, Maria Jose Rodriguez, Pia Gallano, Lidia Gonzalez-Quereda
19 December 2022
X-linked variations in SHROOM4 are implicated in congenital anomalies of the urinary tract and the anorectal, cardiovascular and central nervous systemsCaroline M Kolvenbach, Tim Felger, Luca Schierbaum, Isabelle Thiffault, Tomi Pastinen, Maria Szczepańska, Marcin Zaniew, Piotr Adamczyk, Allan Bayat, Öznur Yilmaz, Tobias T Lindenberg, Holger Thiele, Friedhelm Hildebrandt, Katrin Hinderhofer, Ute Moog
See the full list of authors15 November 2022
MSH2 is the very young onset ovarian cancer predisposition gene, not BRCA1Nicola Flaum, Emma J Crosbie, Emma Roisin Woodward, Fiona Lalloo, Robert Morgan, Neil Ryan, D Gareth Evans
9 March 2023
In-depth characterisation of a cohort of individuals with missense and loss-of-function variants disrupting FOXP2Lottie D Morison, Elisabeth Meffert, Miriam Stampfer, Irene Steiner-Wilke, Brigitte Vollmer, Katrin Schulze, Tracy Briggs, Ruth Braden, Adam Vogel, Daisy Thompson-Lake, Chirag Patel, Edward Blair, Himanshu Goel, Samantha Turner, Ute Moog
See the full list of authors3 November 2022
Genetic and metabolic investigations for neurodevelopmental disorders: position statement of the Canadian College of Medical Geneticists (CCMG)Melissa T Carter, Myriam Srour, Ping-Yee Billie Au, Daniela Buhas, Sarah Dyack, Alison Eaton, Michal Inbar-Feigenberg, Heather Howley, Anne Kawamura, Suzanne M E Lewis, Elizabeth McCready, Tanya N Nelson, Hilary Vallance,
23 February 2023
Recurrent 17q12 microduplications contribute to renal disease but not diabetesStuart Cannon, Rhian Clissold, Kittiya Sukcharoen, Marcus Tuke, Gareth Hawkes, Robin N Beaumont, Andrew R Wood, Mark Gilchrist, Andrew T Hattersley, Richard A Oram, Kashyap Patel, Caroline Wright, Michael N Weedon
15 September 2022
