Journal of Medical Genetics: 60 (4)

Cancer genetics

Update of penetrance estimates in Birt-Hogg-Dubé syndrome (27 February, 2023)
Fiona Jane Bruinsma, James G Dowty, Aung Ko Win, Laura C Goddard, Prachi Agrawal, Domenico Attina', Nabil Bissada, Monica De Luise, Daniel B Eisen, Mitsuko Furuya, Giuseppe Gasparre, Maurizio Genuardi, Anne-Marie Gerdes, Thomas Van Overeem Hansen, Arjan C Houweling, Paul Christiaan Johannesma, André Lencastre, Derek Lim, Noralane M Lindor, Valentina Luzzi, Maeve Lynch, Antonella Maffé, Fred H Menko, Guido Michels, Jose S Pulido, Jay H Ryu, Elke C Sattler, Ortrud K Steinlein, Sara Tomassetti, Kathy Tucker, Daniela Turchetti, Irma van de Beek, Lore van Riel, Maurice van Steensel, Thierry Zenone, Maurizo Zompatori, Jennifer Walsh, Davide Bondavalli, Eamonn R Maher, Ingrid M Winship, Genetic Susceptibility Working Group I-CONFIRM
Original research: Clinical applicability of the Polygenic Risk Score for breast cancer risk prediction in familial cases (22 September, 2022)
Inge 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, Christi J van Asperen, Peter Devilee

Original research: Ellis-Van Creveld Syndrome: Clinical and Molecular Analysis of 50 Individuals (4 August, 2022)
Marion Aubert-Mucca, Céline Huber, Genevieve Baujat, Caroline Michot, Mohammed Zarhrate, Marc Bras, Lucile Boutaud, Valérie Malan, Tania Attie-Bitach, Clinical Contributors, Valerie Cormier-Daire

Original research: Reproductive choices and intrafamilial communication in neurogenetic diseases with different self-estimated severities (21 October, 2022)
Lucie Pierron, Sophie Tezenas du Montcel, Anna Heinzmann, Giulia Coarelli, Delphine Héron, Solveig Heide, Ariane Herson, Juliette Hennessy, Elodie Petit, Marcela Gargiulo, Alexandra Durr
Original research:
MRM2 variants in families with complex dystonic syndromes: evidence for phenotypic heterogeneity
(24 August, 2022)
Anum Shafique, Beenish Arif, Mary Lynn Chu, Ellen Moran, Tooba Hussain, Francisca Millan Zamora, Elizabeth Wohler, Nara Sobreira, Christine Klein, Katja Lohmann, Sadaf Naz

Original research: Clinical diversity and molecular mechanism of VPS35L-associated Ritscher-Schinzel syndrome (16 September, 2022)
Shiomi 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.Cullen, Shinji Saitoh, Kohji Kato

Original research: Axenfeld-Rieger syndrome: more than meets the eye (26 July, 2022)
Linda 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, Jana Jedlickova, Marie Trkova, Bradley Williams, Gabriele Richard, Kristine Bachman, Andrea H. Seeley, Deborah Costakos, Thomas M Glaser, Alex V. Levin, Petra Liskova, Jeffrey C. Murray, Elena V. Semina
Original research:
Sequencing of the ZMYND15 gene in a cohort of infertile Chinese men reveals novel mutations in patients with teratozoospermia
(16 August, 2022)
Yuting Wen, Xiang Wang, Rui Zheng, Siyu Dai, Jinhui Li, Yihong Yang, Ying Shen

Prevalence of Fabry disease-causing variants in the UK Biobank (17 August, 2022)
Mark Gilchrist, Francesco Casanova, Jess S Tyrrell, Stuart Cannon, Andrew R Wood, Nicole Fife, Katherine Young, Richard A Oram, Michael N Weedon
A founder UMOD variant is a common cause of hereditary nephropathy in the British population
(29 August, 2022)
Manoj K Valluru, Noelle KX Chung, Mark Gilchrist, Laura Butland, Jackie Cook, Anna Takou, Abhijit Dixit, Michael N Weedon, Albert C M Ong

Original research: Advancing in Schaaf-Yang syndrome pathophysiology: from bedside to subcellular analyses of truncated MAGEL2 (7 September, 2022)
Laura 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, Susanna Balcells, Roser Urreizti