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
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
20 March 2023
Clinical diversity and molecular mechanism of VPS35L-associated Ritscher-Schinzel syndromeShiomi Otsuji, Yosuke Nishio, Maki Tsujita, Marlene Rio, Céline Huber, Carlos Antón-Plágaro, Seiji Mizuno, Yoshihiko Kawano, Satoko Miyatake, Marleen Simon, Ellen van Binsbergen, Richard H van Jaarsveld, Naomichi Matsumoto, Valerie Cormier-Daire, Peter J.CullenSee the full list of authors
20 March 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
20 March 2023
A founder UMOD variant is a common cause of hereditary nephropathy in the British populationManoj K Valluru, Noelle KX Chung, Mark Gilchrist, Laura Butland, Jackie Cook, Anna Takou, Abhijit Dixit, Michael N Weedon, Albert C M Ong, , The Genomics England Research Consortium, John C Ambrose, Prabhu Arumugam, Roel Bevers, Marta BledaSee the full list of authors
20 March 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
20 March 2023
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
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
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
Genetic spectrum of Chinese children with cystic fibrosis: comprehensive data analysis from the main referral centre in ChinaYuelin Shen, Xiaolei Tang, Qionghua Chen, Hui Xu, Hui Liu, Jinrong Liu, Haiming Yang, Huimin Li, Shunying Zhao
23 February 2023
