Journal of Medical Genetics: 56 (4)

Cancer genetics

Review:
Clinical spectrum and pleiotropic nature of CDH1 germline mutations
(19 January, 2019)
Joana Figueiredo, Soraia Melo, Patrícia Carneiro, Ana Margarida Moreira, Maria Sofia Fernandes, Ana Sofia Ribeiro, Parry Guilford, Joana Paredes, Raquel Seruca
Original article:
Breast cancer risk in neurofibromatosis type 1 is a function of the type of NF1 gene mutation: a new genotype-phenotype correlation
(10 December, 2018) Free
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

Original article:
Novel pathogenic SMAD2 variants in five families with arterial aneurysm and dissection: further delineation of the phenotype
(2 July, 2018)
Elyssa Cannaerts, Marlies Kempers, Alessandra Maugeri, Carlo Marcelis, Thatjana Gardeitchik, Julie Richer, Dimitra Micha, Luc Beauchesne, Janneke Timmermans, Paul Vermeersch, Nathalie Meyten, Sébastien Chénier, Gerarda van de Beek, Nils Peeters, Maaike Alaerts, Dorien Schepers, Lut Van Laer, Aline Verstraeten, Bart Loeys
Original article: CAP2 mutation leads to impaired actin dynamics and associates with supraventricular tachycardia and dilated cardiomyopathy (5 December, 2018)
Liam Aspit, Aviva Levitas, Sharon Etzion, Hanna Krymko, Leonel Slanovic, Raz Zarivach, Yoram Etzion, Ruti Parvari

Original article: From gestalt to gene: early predictive dysmorphic features of PMM2-CDG (21 November, 2018)
Antonio Martinez-Monseny, Daniel Cuadras, Mercè Bolasell, Jordi Muchart, César Arjona, Mar Borregan, Adi Algrabli, Raquel Montero, Rafael Artuch, Ramón Velázquez-Fragua, Alfons Macaya, Celia Pérez-Cerdá, Belén Pérez-Dueñas, Belén Pérez, Mercedes Serrano
Short report:
Homozygosity for the c.428delG variant in KIAA0586 in a healthy individual: implications for molecular testing in patients with Joubert syndrome
(17 August, 2018)
Silke Pauli, Janine Altmüller, Simone Schröder, Andreas Ohlenbusch, Steffi Dreha-Kulaczewski, Carsten Bergmann, Peter Nürnberg, Holger Thiele, Yun Li, Bernd Wollnik, Knut Brockmann
Short report:
Long-read sequencing identified intronic repeat expansions in SAMD12 from Chinese pedigrees affected with familial cortical myoclonic tremor with epilepsy
(7 September, 2018) Free
Sheng Zeng, Mei-yun Zhang, Xue-jing Wang, Zheng-mao Hu, Jin-chen Li, Nan Li, Jun-ling Wang, Fan Liang, Qi Yang, Qian Liu, Li Fang, Jun-wei Hao, Fu-dong Shi, Xue-bing Ding, Jun-fang Teng, Xiao-meng Yin, Hong Jiang, Wei-ping Liao, Jing-yu Liu, Kai Wang, Kun Xia, Bei-sha Tang

Original article:
H2AFY promoter deletion causes PITX1 endoactivation and Liebenberg syndrome
(2 February, 2019)
Bjørt K Kragesteen, Francesco Brancati, Maria Cristina Digilio, Stefan Mundlos, Malte Spielmann

Original article:
SMAD3 pathogenic variants: risk for thoracic aortic disease and associated complications from the Montalcino Aortic Consortium
(19 January, 2019)
Ellen M Hostetler, Ellen S Regalado, Dong-Chuan Guo, Nadine Hanna, Pauline Arnaud, Laura Muiño-Mosquera, Bert Louis Callewaert, Kwanghyuk Lee, Suzanne M Leal, Stephanie E Wallace, Andrea L Rideout, Sarah Dyack, Rajani D Aatre, Catherine Boileau, Julie De Backer, Guillaume Jondeau, Dianna M Milewicz