Special collections

Special collections

A germline 1;3 translocation disrupting the VHL gene: a novel genetic cause for von Hippel-Lindau
Christopher J Ricketts, Cathy D Vocke, Martin Lang, Xiongfong Chen, Yongmei Zhao, Bao Tran, Mayank Tandon, Laura S Schmidt, Mark W Ball, W Marston Linehan

Journal of Medical Genetics Oct 2020, jmedgenet-2020-107308; DOI: 10.1136/jmedgenet-2020-107308
Blood functional assay for rapid clinical interpretation of germline TP53 variants
Sabine Raad, Marion Rolain, Sophie Coutant, Céline Derambure, Raphael Lanos, Françoise Charbonnier, Jacqueline Bou, Emilie Bouvignies, Gwendoline Lienard, Stéphanie Vasseur, Michael Farrell, Olivier Ingster, Stéphanie Baert Desurmont, Edwige Kasper, Gaëlle Bougeard, Thierry Frébourg, Isabelle Tournier

Journal of Medical Genetics Oct 2020, jmedgenet-2020-107059; DOI: 10.1136/jmedgenet-2020-107059
Association between a 46-SNP Polygenic Risk Score and melanoma risk in Dutch patients with familial melanoma
Thomas P Potjer, Tara W J van der Grinten, Inge M M Lakeman, Sander H Bollen, Mar Rodríguez-Girondo, Mark M Iles, Jennifer H Barrett, Lambertus A Kiemeney, Nelleke A Gruis, Christi J van Asperen, Nienke van der Stoep

Journal of Medical Genetics Sep 2020, jmedgenet-2020-107251; DOI: 10.1136/jmedgenet-2020-107251
Clinical phenotype and loss of the slow skeletal muscle troponin T in three new patients with recessive TNNT1 nemaline myopathy
Justine Géraud, Klaus Dieterich, John Rendu, Emmanuelle Uro Coste, Murielle Dobrzynski, Pascale Marcorelle, Christine Ioos, Norma Beatriz Romero, Eloise Baudou, Julie Brocard, Anne-Cécile Coville, Julien Fauré, Michel Koenig, Raul Juntas Morales, Emmanuelle Lacène, Angéline Madelaine, Isabelle Marty, Henri Pegeot, Corinne Theze, Aurore Siegfried, Mireille Cossee, Claude Cances

Journal of Medical Genetics Sep 2020, jmedgenet-2019-106714; DOI: 10.1136/jmedgenet-2019-106714
Update and audit of the St George’s classification algorithm of primary lymphatic anomalies: a clinical and molecular approach to diagnosis
Kristiana Gordon, Ruth Varney, Vaughan Keeley, Katie Riches, Steve Jeffery, Malou Van Zanten, Peter Mortimer, Pia Ostergaard, Sahar Mansour

Journal of Medical Genetics Oct 2020, 57 (10) 653-659; DOI: 10.1136/jmedgenet-2019-106084
Variable expression of subclinical phenotypes instead of reduced penetrance in families with mild triphalangeal thumb phenotypes
Jacob W P Potuijt, Jeannette Hoogeboom, Esther de Graaff, Christianne A van Nieuwenhoven, Robert Jan H Galjaard

Journal of Medical Genetics Oct 2020, 57 (10) 660-663; DOI: 10.1136/jmedgenet-2019-106685
Colorectal cancer genetic variants are also associated with serrated polyposis syndrome susceptibility
Coral Arnau-Collell, Yasmin Soares de Lima, Marcos Díaz-Gay, Jenifer Muñoz, Sabela Carballal, Laia Bonjoch, Leticia Moreira, Juan José Lozano, Teresa Ocaña, Miriam Cuatrecasas, Aranzazu Díaz de Bustamante, Antoni Castells, Gabriel Capellà, Luis Bujanda, Joaquin Cubiella, Daniel Rodríguez-Alcalde, Francesc Balaguer, Clara Ruiz-Ponte, Laura Valle, Victor Moreno, Sergi Castellvi-Bel

Journal of Medical Genetics Oct 2020, 57 (10) 677-682; DOI: 10.1136/jmedgenet-2019-106374
Phenotype of genetically confirmed Silver-Russell syndrome beyond childhood
Oluwakemi Lokulo-Sodipe, Lisa Ballard, Jenny Child, Hazel M Inskip, Christopher D Byrne, Miho Ishida, Gudrun E Moore, Emma L Wakeling, Angela Fenwick, Deborah J G Mackay, Justin Huw Davies, I Karen Temple

Journal of Medical Genetics Oct 2020, 57 (10) 683-691; DOI: 10.1136/jmedgenet-2019-106561
Medical and neurobehavioural phenotypes in carriers of X-linked ichthyosis-associated genetic deletions in the UK Biobank
Lucija Brcic, Jack FG Underwood, Kimberley M Kendall, Xavier Caseras, George Kirov, William Davies

Journal of Medical Genetics Oct 2020, 57 (10) 692-698; DOI: 10.1136/jmedgenet-2019-106676
Severity of oro-dental anomalies in Loeys-Dietz syndrome segregates by gene mutation
Priyam Jani, Quynh C Nguyen, Konstantinia Almpani, Cyrus Keyvanfar, Rashmi Mishra, Denise Liberton, Pamela Orzechowski, Pamela A Frischmeyer-Guerrerio, Olivier Duverger, Janice S Lee

Journal of Medical Genetics Oct 2020, 57 (10) 699-707; DOI: 10.1136/jmedgenet-2019-106678

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