Journal of Medical Genetics: 57 (2)

Complex traits

Original article:
Biallelic mutations in CFAP65 cause male infertility with multiple morphological abnormalities of the sperm flagella in humans and mice
(9 September, 2019)
Weiyu Li, Huan Wu, Fuping Li, Shixiong Tian, Zine-Eddine Kherraf, Jintao Zhang, Xiaoqing Ni, Mingrong Lv, Chunyu Liu, Qing Tan, Ying Shen, Amir Amiri-Yekta, Caroline Cazin, Jingjing Zhang, Wangjie Liu, Yan Zheng, Huiru Cheng, Yingbi Wu, Jiajia Wang, Yang Gao, Yujie Chen, Xiaomin Zha, Li Jin, Mingxi Liu, Xiaojin He, Pierre F Ray, Yunxia Cao, Feng Zhang

Original article: Variant type is associated with disease characteristics in SDHB, SDHC and SDHD-linked phaeochromocytoma–paraganglioma (6 September, 2019)
Jean Pierre Bayley, Birke Bausch, Johannes Adriaan Rijken, Leonie Theresia van Hulsteijn, Jeroen C Jansen, David Ascher, Douglas Eduardo Valente Pires, Frederik J Hes, Erik F Hensen, Eleonora P M Corssmit, Peter Devilee, Hartmut P H Neumann
Short report: Chemoresistant pleomorphic rhabdomyosarcoma: whole exome sequencing reveals underlying cancer predisposition and therapeutic options (23 October, 2018)
Camille Tlemsani, Karen Leroy, Anne-Paule Gimenez-Roqueplo, Audrey Mansuet-Lupo, Eric Pasmant, Frederique Larousserie, Pascaline Boudou-Rouquette, Michel Vidaud, Jacques Cadranel, Helene Blons, Francois Goldwasser, Pierre Laurent-Puig

Original article: Single-molecule optical mapping enables quantitative measurement of D4Z4 repeats in facioscapulohumeral muscular dystrophy (FSHD) (10 September, 2019)
Yi Dai, Pidong Li, Zhiqiang Wang, Fan Liang, Fan Yang, Li Fang, Yu Huang, Shangzhi Huang, Jiapeng Zhou, Depeng Wang, Liying Cui, Kai Wang

Pharmacologic properties of high-dose ambroxol in four patients with Gaucher disease and myoclonic epilepsy (24 October, 2019)
Yoon-Myung Kim, Mi-Sun Yum, Sun Hee Heo, Taeho Kim, Hee Kyung Jin, Jae-sung Bae, Go Hun Seo, Arum Oh, Hee Mang Yoon, Hyun Taek Lim, Hyo-Won Kim, Tae-Sung Ko, Hyeong‐Seok Lim, Mark J Osborn, Jakub Tolar, Claudia Cozma, Arndt Rolfs, Ari Zimran, Beom Hee Lee, Han-Wook Yoo

Complete loss of KCNA1 activity causes neonatal epileptic encephalopathy and dyskinesia (5 October, 2019)
Edgard Verdura, Carme Fons, Agatha Schlüter, Montserrat Ruiz, Stéphane Fourcade, Carlos Casasnovas, Antonio Castellano, Aurora Pujol
Original article:
De novo SCAMP5 mutation causes a neurodevelopmental disorder with autistic features and seizures
(22 August, 2019)
Laurence Hubert, Magda Cannata Serio, Laure Villoing-Gaudé, Nathalie Boddaert, Anna Kaminska, Marlène Rio, Stanislas Lyonnet, Arnold Munnich, Karine Poirier, Matias Simons, Claude Besmond