Journal of Medical Genetics: 56 (10)

Cancer genetics

Original article: Prenatal ultrasound findings of rasopathies in a cohort of 424 fetuses: update on genetic testing in the NGS era (30 April, 2019) Free
Kyra E Stuurman, Marieke Joosten, Ineke van der Burgt, Mariet Elting, Helger G Yntema, Hanne Meijers-Heijboer, Tuula Rinne
Original article: Genetic characteristics of retinitis pigmentosa in 1204 Japanese patients (17 June, 2019)
Yoshito Koyanagi, Masato Akiyama, Koji M Nishiguchi, Yukihide Momozawa, Yoichiro Kamatani, Sadaaki Takata, Chihiro Inai, Yusuke Iwasaki, Mikako Kumano, Yusuke Murakami, Kazuko Omodaka, Toshiaki Abe, Shiori Komori, Dan Gao, Toshiaki Hirakata, Kentaro Kurata, Katsuhiro Hosono, Shinji Ueno, Yoshihiro Hotta, Akira Murakami, Hiroko Terasaki, Yuko Wada, Toru Nakazawa, Tatsuro Ishibashi, Yasuhiro Ikeda, Michiaki Kubo, Koh-Hei Sonoda

Original article:
TNFRSF21 mutations cause high myopia
(12 June, 2019)
Hong Pan, Shijing Wu, Jing Wang, Tian Zhu, Tengyan Li, Bo Wan, Beihong Liu, Yan Luo, Xu Ma, Ruifang Sui, Binbin Wang

Original article: Loss-of-function mutations in SPEF2 cause multiple morphological abnormalities of the sperm flagella (MMAF) (31 May, 2019)
Wensheng Liu, Yanwei Sha, Yang Li, Libin Mei, Shaobin Lin, Xianjing Huang, Jinhua Lu, Lu Ding, Shuangbo Kong, Zhongxian Lu

Original article: SMCHD1 mutation spectrum for facioscapulohumeral muscular dystrophy type 2 (FSHD2) and Bosma arhinia microphthalmia syndrome (BAMS) reveals disease-specific localisation of variants in the ATPase domain (26 June, 2019)
Richard J L F Lemmers, Nienke van der Stoep, Patrick J van der Vliet, Steven A Moore, David San Leon Granado, Katherine Johnson, Ana Topf, Volker Straub, Teresinha Evangelista, Tahseen Mozaffar, Virginia Kimonis, Natalie D Shaw, Rita Selvatici, Alessandra Ferlini, Nicol Voermans, Baziel van Engelen, Sabrina Sacconi, Rabi Tawil, Meindert Lamers, Silvère M van der Maarel

Original article: Estimating the effect size of the 15Q11.2 BP1–BP2 deletion and its contribution to neurodevelopmental symptoms: recommendations for practice (26 August, 2019)
Aia Elise Jønch, Elise Douard, Clara Moreau, Anke Van Dijck, Marzia Passeggeri, Frank Kooy, Jacques Puechberty, Carolyn Campbell, Damien Sanlaville, Henrietta Lefroy, Sonia Richetin, Aurelie Pain, David Geneviève, Usha Kini, Cédric Le Caignec, James Lespinasse, Anne-Bine Skytte, Bertrand Isidor, Christiane Zweier, Jean-Hubert Caberg, Marie-Ange Delrue, Rikke Steensbjerre Møller, Anders Bojesen, Helle Hjalgrim, Charlotte Brasch-Andersen, Emmanuelle Lemyre, Lilian Bomme Ousager, Sébastien Jacquemont