Journal of Medical Genetics: 57 (9)

Clinical guidelines

Review: Under-reported aspects of diagnosis and treatment addressed in the Dutch-Flemish guideline for comprehensive diagnostics in disorders/differences of sex development (17 April, 2020)
Yolande van Bever, Hennie T Brüggenwirth, Katja P Wolffenbuttel, Arianne B Dessens, Irene A L Groenenberg, Maarten F C M Knapen, Elfride De Baere, Martine Cools, Conny M A van Ravenswaaij-Arts, Birgit Sikkema-Raddatz, Hedi Claahsen-van der Grinten, Marlies Kempers, Tuula Rinne, Remko Hersmus, Leendert Looijenga, Sabine E Hannema

Original research: Association between genetic polymorphisms and endometrial cancer risk: a systematic review (17 February, 2020)
Cemsel Bafligil, Deborah J Thompson, Artitaya Lophatananon, Miriam J Smith, Neil AJ Ryan, Anie Naqvi, D Gareth Evans, Emma J Crosbie
Short report: Molecular characterisation of oncogenic urothelial mosaic mutations in patients with extensive keratinocytic epidermal naevi (14 January, 2020)
Alejandra Gadea, Inmaculada Hernández-Muñoz, Asunción Vicente, Evelyn Andrades, Miriam García-Calvente, Laura Camacho, Conchi Fernandez-Rodríguez, Beatriz Bellosillo, Ramon Pujol, Agustín Toll
Short report: Multiregion whole-genome sequencing depicts intratumour heterogeneity and punctuated evolution in ovarian clear cell carcinoma (20 December, 2019)
Xia Yin, Rui Bi, Pengfei Ma, Shengzhe Zhang, Yang Zhang, Yunheng Sun, Yi Zhang, Ying Jing, Minhua Yu, Wenjing Wang, Li Tan, Wen Di, Guanglei Zhuang, Mei-Chun Cai

Original research: Excess of singleton loss-of-function variants in Parkinson’s disease contributes to genetic risk (13 February, 2020)
Dheeraj Reddy Bobbili, Peter Banda, Rejko Krüger, Patrick May
Original research: Diagnostic exome sequencing in non-acquired focal epilepsies highlights a major role of GATOR1 complex genes (21 February, 2020) Free
Martin Krenn, Matias Wagner, Christoph Hotzy, Elisabeth Graf, Sandrina Weber, Theresa Brunet, Bettina Lorenz-Depiereux, Gregor Kasprian, Susanne Aull-Watschinger, Ekaterina Pataraia, Elisabeth Stogmann, Alexander Zimprich, Tim M Strom, Thomas Meitinger, Fritz Zimprich

Short report: Clinical, pathological and genetic spectrum in 89 cases of mitochondrial progressive external ophthalmoplegia (11 March, 2020)
Claudia Rodríguez-López, Luis M. García-Cárdaba, Alberto Blázquez, Pablo Serrano-Lorenzo, Gerardo Gutiérrez-Gutiérrez, Beatriz San Millán-Tejado, Nuria Muelas, Aurelio Hernández-Laín, Juan J. Vílchez, Eduardo Gutiérrez-Rivas, Joaquín Arenas, Miguel A. Martín, Cristina Domínguez-González