Breast cancer risk in neurofibromatosis type 1 is a function of the type of NF1 gene mutation: a new genotype-phenotype correlation

Ian M Frayling, Victor-Felix Mautner, Rick van Minkelen, Roope A Kallionpaa, Safiye Aktaş, Diana Baralle, Shay Ben-Shachar, Alison Callaway, Harriet Cox, Diana M Eccles, Salah Ferkal, Holly LaDuca, Conxi Lázaro, Mark T Rogers, Aaron J Stuenkel, Pia Summerour, Ali Varan, Yoon Sim Yap, Ouidad Zehou, Juha Peltonen, D Gareth Evans, Pierre Wolkenstein, Meena Upadhyaya

10.1136/jmedgenet-2018-105599

December 10, 2018

Editor's choice

Case for genome sequencing in infants and children with rare, undiagnosed or genetic diseases

David Bick, Marilyn Jones, Stacie L Taylor, Ryan J Taft, John Belmont

10.1136/jmedgenet-2019-106111

April 25, 2019

Clinical spectrum and pleiotropic nature of CDH1 germline mutations

Joana Figueiredo, Soraia Melo, Patrícia Carneiro, Ana Margarida Moreira, Maria Sofia Fernandes, Ana Sofia Ribeiro, Parry Guilford, Joana Paredes, Raquel Seruca

10.1136/jmedgenet-2018-105807

January 19, 2019

Efficacy of novel immunotherapy regimens in patients with metastatic melanoma with germline CDKN2A mutations

Hildur Helgadottir, Paola Ghiorzo, Remco van Doorn, Susana Puig, Max Levin, Richard Kefford, Martin Lauss, Paola Queirolo, Lorenza Pastorino, Ellen Kapiteijn, Miriam Potrony, Cristina Carrera, Håkan Olsson, Veronica Höiom, Göran Jönsson

10.1136/jmedgenet-2018-105610

October 5, 2018

Alternative splicing and ACMG-AMP-2015-based classification of PALB2 genetic variants: an ENIGMA report

Irene Lopez-Perolio, Raphaël Leman, Raquel Behar, Vanessa Lattimore, John F Pearson, Laurent Castéra, Alexandra Martins, Dominique Vaur, Nicolas Goardon, Grégoire Davy, Pilar Garre, Vanesa García-Barberán, Patricia Llovet, Pedro Pérez-Segura, Eduardo Díaz-Rubio, Trinidad Caldés, Kathleen S Hruska, Vickie Hsuan, Sitao Wu, Tina Pesaran, Rachid Karam, Johan Vallon-Christersson, Ake Borg, kConFab Investigators, Alberto Valenzuela-Palomo, Eladio A Velasco, Melissa Southey, Maaike P G Vreeswijk, Peter Devilee, Anders Kvist, Amanda B Spurdle, Logan C Walker, Sophie Krieger, Miguel de la Hoya

10.1136/jmedgenet-2018-105834

March 19, 2019

Resectable lung lesions malignancy assessment and cancer detection by ultra-deep sequencing of targeted gene mutations in plasma cell-free DNA

Muyun Peng, Yuancai Xie, Xiaohua Li, Youhui Qian, Xiaonian Tu, Xumei Yao, Fangsheng Cheng, Feiyue Xu, Deju Kong, Bing He, Chaoyu Liu, Fengjun Cao, Haoxian Yang, Fenglei Yu, Chuanbo Xu, Geng Tian

10.1136/jmedgenet-2018-105825

April 13, 2019

Genetic diagnosis of subfertility: the impact of meiosis and maternal effects

Alexander Gheldof, Deborah J G Mackay, Ying Cheong, Willem Verpoest

10.1136/jmedgenet-2018-105513

February 6, 2019

Multivariate genome-wide association study of rapid automatised naming and rapid alternating stimulus in Hispanic American and African–American youth

Dongnhu Thuy Truong, Andrew Kenneth Adams, Steven Paniagua, Jan C Frijters, Richard Boada, Dina E Hill, Maureen W Lovett, E Mark Mahone, Erik G Willcutt, Maryanne Wolf, John C Defries, Alessandro Gialluisi, Clyde Francks, Simon E Fisher, Richard K Olson, Bruce F Pennington, Shelley D Smith, Joan Bosson-Heenan, Jeffrey R Gruen

10.1136/jmedgenet-2018-105874

April 17, 2019

Pathogenic variants in the AFG3L2 proteolytic domain cause SCA28 through haploinsufficiency and proteostatic stress-driven OMA1 activation

Susanna Tulli, Andrea Del Bondio, Valentina Baderna, Davide Mazza, Franca Codazzi, Tyler Mark Pierson, Alessandro Ambrosi, Dagmar Nolte, Cyril Goizet, Camilo Toro, Jonathan Baets, Tine Deconinck, Peter DeJonghe, Paola Mandich, Giorgio Casari, Francesca Maltecca

10.1136/jmedgenet-2018-105766

March 25, 2019

Distal chromosome 16p11.2 duplications containing SH2B1 in patients with scoliosis

Brooke Sadler, Gabe Haller, Lilian Antunes, Xavier Bledsoe, Jose Morcuende, Philip Giampietro, Cathleen Raggio, Nancy Miller, Yared Kidane, Carol A. Wise, Ina Amarillo, Nephi Walton, Mark Seeley, Darren Johnson, Conner Jenkins, Troy Jenkins, Matthew Oetjens, R. Spencer Tong, Todd E Druley, Matthew B. Dobbs, Christina A. Gurnett

10.1136/jmedgenet-2018-105877

February 25, 2019