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 Sharma
See the full list of authors1 November 2022
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 Skalicka
See the full list of authors26 July 2022
The role of single-cell genomics in human geneticsVarun K A Sreenivasan, Saranya Balachandran, Malte Spielmann
19 August 2022
Genotypes and phenotypes heterogeneity in PIK3CA-related overgrowth spectrum and overlapping conditions: 150 novel patients and systematic review of 1007 patients with PIK3CA pathogenetic variantsAlessandro Mussa, Chiara Leoni, Matteo Iacoviello, Diana Carli, Carlotta Ranieri, Antonino Pantaleo, Paola Sabrina Buonuomo, Rosanna Bagnulo, Giovanni Battista Ferrero, Andrea Bartuli, Daniela Melis, Silvia Maitz, Daria Carmela Loconte, Antonella Turchiano, Marilidia Piglionica
See the full list of authors7 March 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 Tischkowitz
See the full list of authors8 March 2022
Lyso-Gb3 associates with adverse long-term outcome in patients with Fabry diseaseAlbina Nowak, Felix Beuschlein, Visnuka Sivasubramaniam, David Kasper, David G Warnock
18 February 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 Fallowfield
See the full list of authors29 July 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 Iles
See the full list of authors20 December 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 Manchanda
See the full list of authors21 November 2022
Targeted long-read sequencing identifies missing pathogenic variants in unsolved Werner syndrome casesDanny E. Miller, Lin Lee, Miranda Galey, Renuka Kandhaya-Pillai, Marc Tischkowitz, Deepak Amalnath, Avadh Vithlani, Koutaro Yokote, Hisaya Kato, Yoshiro Maezawa, Aki Takada-Watanabe, Minoru Takemoto, George M. Martin, Evan E. Eichler, Fuki M. Hisama
See the full list of authors9 May 2022
Diagnostic criteria for constitutional mismatch repair deficiency (CMMRD): recommendations from the international consensus working groupMelyssa Aronson, Chrystelle Colas, Andrew Shuen, Heather Hampel, William D Foulkes, Hagit Baris Feldman, Yael Goldberg, Martine Muleris, Kami Wolfe Schneider, Rose B McGee, Kory Jasperson, Arun Rangaswami, Laurence Brugieres, Uri Tabori
23 March 2022
O’Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrumClara Velmans, Anne H O'Donnell-Luria, Emanuela Argilli, Frederic Tran Mau-them, Antonio Vitobello, Marcus CY Chan, Jasmine Lee-Fong Fung, Megan Rech, Angela Abicht, Marion Aubert Mucca, Jason Carmichael, Nicolas Chassaing, Robin Clark, Christine Coubes, Anne-Sophie Denommé-Pichon
See the full list of authors27 June 2022
Detection of cryptic balanced chromosomal rearrangements using high-resolution optical genome mappingShuo Zhang, Zhenle Pei, Caixia Lei, Saijuan Zhu, Ke Deng, Jing Zhou, Jingmin Yang, Daru Lu, Xiaoxi Sun, Chenming Xu, Congjian Xu
16 June 2022
Practice guidelines for BRCA1/2 tumour testing in ovarian cancerDaria Grafodatskaya, Darren D O’Rielly, Karine Bedard, Darci T Butcher, Christopher J Howlett, Alice Lytwyn, Elizabeth McCready, Jillian Parboosingh, Elizabeth L Spriggs, Andrea K Vaags, Tracy L Stockley
21 July 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
Prevalence of Fabry disease-causing variants in the UK BiobankMark Gilchrist, Francesco Casanova, Jess S Tyrrell, Stuart Cannon, Andrew R Wood, Nicole Fife, Katherine Young, Richard A Oram, Michael N Weedon
17 August 2022
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 Schmidt
See the full list of authors14 October 2022
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
6 April 2022
Oculo-auriculo-vertebral spectrum: new genes and literature review on a complex diseaseAngèle Tingaud-Sequeira, Aurélien Trimouille, Thomas Sagardoy, Didier Lacombe, Caroline Rooryck
22 April 2022
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 Rabionet
See the full list of authors7 September 2022
