The avoiding late diagnosis of ovarian cancer (ALDO) project; a pilot national surveillance programme for women with pathogenic germline variants in BRCA1 and BRCA2Sue Philpott, Maria Raikou, Ranjit Manchanda, Michelle Lockley, Naveena Singh, Malcolm Scott, D Gareth Evans, Julian Adlard, Munaza Ahmed, Richard Edmondson, Emma Roisin Woodward, Athena Lamnisos, Janos Balega, Angela F Brady, Aarti SharmaSee the full list of authors
1 November 2022
Loeys-Dietz and Shprintzen-Goldberg syndromes: analysis of TGF-β-opathies with craniofacial manifestations using an innovative multimodality methodKonstantinia Almpani, Denise K. Liberton, Priyam Jani, Cyrus Keyvanfar, Rashmi Mishra, Natasha Curry, Pamela Orzechowski, Pamela A. Frischmeyer-Guerrerio, Janice S. Lee
26 September 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
22 May 2023
UK consensus recommendations for clinical management of cancer risk for women with germline pathogenic variants in cancer predisposition genes: RAD51C, RAD51D, BRIP1 and PALB2Helen Hanson, Anjana Kulkarni, Lucy Loong, Grace Kavanaugh, Bethany Torr, Sophie Allen, Munaza Ahmed, Antonis C Antoniou, Ruth Cleaver, Tabib Dabir, D Gareth Evans, Ellen Golightly, Rosalyn Jewell, Kelly Kohut, Ranjit ManchandaSee the full list of authors
21 November 2022
Redefining WILD syndrome: a primary lymphatic dysplasia with congenital multisegmental lymphoedema, cutaneous lymphovascular malformation, CD4 lymphopaenia and wartsSahar Mansour, Katherine S Josephs, Pia Ostergaard, Kristiana Gordon, Malou Van Zanten, Julian Pearce, Steve Jeffery, Vaughan Keeley, Katie Riches, Alexander Kreuter, Ulrike Wieland, René Hägerling, Lakshmi Ratnam, Ege Sackey, Dionysios GrigoriadisSee the full list of authors
23 December 2022
A digital pathway for genetic testing in UK NHS patients with cancer: BRCA-DIRECT randomised study internal pilotBethany Torr, Christopher Jones, Subin Choi, Sophie Allen, Grace Kavanaugh, Monica Hamill, Alice Garrett, Suzanne MacMahon, Lucy Loong, Alistair Reay, Lina Yuan, Mikel Valganon Petrizan, Kathryn Monson, Nicky Perry, Lesley FallowfieldSee the full list of authors
22 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
Providing recurrence risk counselling for parents after diagnosis of a serious genetic condition caused by an apparently de novo mutation in their child: a qualitative investigation of the PREGCARE strategy with UK clinical genetics practitionersAlison C Kay, Jonathan Wells, Nina Hallowell, Anne Goriely
17 March 2023
Axenfeld-Rieger syndrome: more than meets the eyeLinda M. Reis, Mohit Maheshwari, Jenina Capasso, Huban Atilla, Lubica Dudakova, Samuel Thompson, Lia Zitano, Guillermo Lay-Son, R. Brian Lowry, Jennifer Black, Joseph Lee, Ann Shue, Radka Kremlikova Pourova, Manuela Vaneckova, Pavlina SkalickaSee the full list of authors
20 March 2023
De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disabilityAudrey Schalk, Margot A Cousin, Nikita R Dsouza, Thomas D Challman, Karen E Wain, Zoe Powis, Kelly Minks, Aurélien Trimouille, Eulalie Lasseaux, Didier Lacombe, Chloé Angelini, Vincent Michaud, Julien Van-Gils, Nino Spataro, Anna RuizSee the full list of authors
26 September 2022
UK recommendations for SDHA germline genetic testing and surveillance in clinical practiceHelen Hanson, Miranda Durkie, Fiona Lalloo, Louise Izatt, Terri P McVeigh, Jackie A Cook, Carole Brewer, James Drummond, Samantha Butler, Treena Cranston, Ruth Casey, Tricia Tan, Daniel Morganstein, Diana M Eccles, Marc TischkowitzSee the full list of authors
24 January 2023
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
8 March 2023
Transcriptome-based variant calling and aberrant mRNA discovery enhance diagnostic efficiency for neuromuscular diseasesSung Eun Hong, Jana Kneissl, Anna Cho, Man Jin Kim, Soojin Park, Jeongeun Lee, Sijae Woo, Sora Kim, Jun-Soon Kim, Soo Yeon Kim, Sungwon Jung, Jinkuk Kim, Je-Young Shin, Jong-Hee Chae, Murim Choi
21 October 2022
Effect of Migalastat on cArdiac Involvement in FabRry Disease: MAIORA studyAntonia Camporeale, Francesco Bandera, Maurizio Pieroni, Federico Pieruzzi, Marco Spada, Anna Bersano, Laura Econimo, Chiara Lanzillo, Marta Rubino, Renzo Mignani, Irene Motta, Iacopo Olivotto, Ilaria Tanini, Rea Valaperta, Kelvin ChowSee the full list of authors
20 January 2023
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
14 February 2023
Clinical applicability of the Polygenic Risk Score for breast cancer risk prediction in familial casesInge M M Lakeman, Mar D M Rodríguez-Girondo, Andrew Lee, Nandi Celosse, Merel E Braspenning, Klaartje van Engelen, Irma van de Beek, Annemiek H van der Hout, Encarna B Gómez García, Arjen R Mensenkamp, Margreet G E M Ausems, Maartje J Hooning, Muriel A Adank, Antoinette Hollestelle, Marjanka K SchmidtSee the full list of authors
14 October 2022
Clinical application of fetal genome-wide sequencing during pregnancy: position statement of the Canadian College of Medical GeneticistsJoanna Lazier, Taila Hartley, Jo-Ann Brock, Oana Caluseriu, David Chitayat, Anne-Marie Laberge, Sylvie Langlois, Julie Lauzon, Tanya N Nelson, Jillian Parboosingh, Dimitri J Stavropoulos, Kym Boycott, Christine M Armour
26 September 2022
UK consensus recommendations for clinical management of cancer risk for women with germline pathogenic variants in cancer predisposition genes: RAD51C, RAD51D, BRIP1 and PALB2Helen Hanson, Anjana Kulkarni, Lucy Loong, Grace Kavanaugh, Bethany Torr, Sophie Allen, Munaza Ahmed, Antonis C Antoniou, Ruth Cleaver, Tabib Dabir, D Gareth Evans, Ellen Golightly, Rosalyn Jewell, Kelly Kohut, Ranjit ManchandaSee the full list of authors
20 April 2023
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
Advancing in Schaaf-Yang syndrome pathophysiology: from bedside to subcellular analyses of truncated MAGEL2Laura Castilla-Vallmanya, Mónica Centeno-Pla, Mercedes Serrano, Héctor Franco-Valls, Raúl Martínez-Cabrera, Aina Prat-Planas, Elena Rojano, Juan A G Ranea, Pedro Seoane, Clara Oliva, Abraham J Paredes-Fuentes, Gemma Marfany, Rafael Artuch, Daniel Grinberg, Raquel RabionetSee the full list of authors
7 September 2022
