Journal of Medical Genetics: 55 (10)

Methods

Review: Use of zebrafish models to investigate rare human disease (31 July, 2018) Free
Kathryn Isabel Adamson, Eamonn Sheridan, Andrew James Grierson

Original article:
Non-HFE mutations in haemochromatosis in China: combination of heterozygous mutations involving HJV signal peptide variants
(30 August, 2018)
Tingxia Lv, Wei Zhang, Anjian Xu, Yanmeng Li, Donghu Zhou, Bei Zhang, Xiaojin Li, Xinyan Zhao, Yu Wang, Xiaoming Wang, Weijia Duan, Qianyi Wang, Hexiang Xu, JiShun Zheng, Rongrong Zhao, Longdong Zhu, Yuwei Dong, Lungen Lu, Yongpeng Chen, Jiang Long, Sujun Zheng, Wei Wang, Hong You, Jidong Jia, Xiaojuan Ou, Jian Huang

Original article:
CM-Score: a validated scoring system to predict CDKN2A germline mutations in melanoma families from Northern Europe
(16 April, 2018)
Thomas P Potjer, Hildur Helgadottir, Mirjam Leenheer, Nienke van der Stoep, Nelleke A Gruis, Veronica Höiom, Håkan Olsson, Remco van Doorn, Hans F A Vasen, Christi J van Asperen, Olaf M Dekkers, Frederik J Hes
Short report:
Role of germline aberrations affecting CTNNA1, MAP3K6 and MYD88 in gastric cancer susceptibility
(12 January, 2018)
Robbert D A Weren, Rachel S van der Post, Ingrid P Vogelaar, J Han van Krieken, Liesbeth Spruijt, Jan Lubinski, Anna Jakubowska, Urszula Teodorczyk, Cora M Aalfs, Liselotte P van Hest, Carla Oliveira, Eveline J Kamping, Hans K Schackert, Guglielmina N Ranzani, Encarna B Gómez García, Frederik J Hes, Elke Holinski-Feder, Maurizio Genuardi, Margreet G E M Ausems, Rolf H Sijmons, Anja Wagner, Lizet E van der Kolk, Annemieke Cats, Inga Bjørnevoll, Nicoline Hoogerbrugge, Marjolijn J L Ligtenberg

Original article: Perturbations of BMP/TGF-β and VEGF/VEGFR signalling pathways in non-syndromic sporadic brain arteriovenous malformations (BAVM) (17 August, 2018)
Kun Wang, Sen Zhao, Bowen Liu, Qianqian Zhang, Yaqi Li, Jiaqi Liu, Yan Shen, Xinghuan Ding, Jiachen Lin, Yong Wu, Zihui Yan, Jia Chen, Xiaoxin Li, Xiaofei Song, Yuchen Niu, Jian Liu, Weisheng Chen, Yue Ming, Renqian Du, Cong Chen, Bo Long, Yisen Zhang, Xiangjun Tong, Shuyang Zhang, Jennifer E Posey, Bo Zhang, Zhihong Wu, Joshua D Wythe, Pengfei Liu, James R Lupski, Xinjian Yang, Nan Wu

Original article: Fine mapping MHC associations in Graves’ disease and its clinical subtypes in Han Chinese (9 July, 2018)
Xun Chu, Minjun Yang, Zhen-Ju Song, Yan Dong, Chong Li, Min Shen, Yong-Qiang Zhu, Huai-Dong Song, Sai-Juan Chen, Zhu Chen, Wei Huang

Original article: Mutations in IRS4 are associated with central hypothyroidism (30 July, 2018)
Charlotte A Heinen, Emmely M de Vries, Mariëlle Alders, Hennie Bikker, Nitash Zwaveling-Soonawala, Erica L T van den Akker, Boudewijn Bakker, Gera Hoorweg-Nijman, Ferdinand Roelfsema, Raoul C Hennekam, Anita Boelen, A S Paul van Trotsenburg, Eric Fliers
Short report: Variant in C-terminal region of intestinal alkaline phosphatase associated with benign familial hyperphosphatasaemia (13 January, 2018)
Takayuki Ishige, Sakae Itoga, Emi Utsuno, Motoi Nishimura, Masaharu Yoshikawa, Naoya Kato, Kazuyuki Matsushita, Osamu Yokosuka, Fumio Nomura

Original article:
Homozygous variants in KIAA1549, encoding a ciliary protein, are associated with autosomal recessive retinitis pigmentosa
(17 August, 2018)
Suzanne E de Bruijn, Sanne K Verbakel, Erik de Vrieze, Hannie Kremer, Frans P M Cremers, Carel B Hoyng, L Ingeborgh van den Born, Susanne Roosing