Journal of Medical Genetics: 59 (1)

Neurogenetics

Original research:
Genetic characterisation of sarcomatoid carcinomas reveals multiple novel actionable mutations and identifies KRAS mutation as a biomarker of poor prognosis
(28 October, 2020)
Ying Ding, Yang Shao, Chenglong Na, Jiani C Yin, Hongjin Hua, Ran Tao, Yue Jiang, Ran Hu, Xiao He, Chen Miao, Dongqin Zhu, Zhihong Zhang
Short report:
A germline 1;3 translocation disrupting the VHL gene: a novel genetic cause for von Hippel-Lindau
(16 October, 2020)
Christopher J Ricketts, Cathy D Vocke, Martin Lang, Xiongfong Chen, Yongmei Zhao, Bao Tran, Mayank Tandon, Laura S Schmidt, Mark W Ball, W Marston Linehan
Short report: Stay at home: implementation and impact of virtualising cancer genetic services during COVID-19 (16 October, 2020)
Maia Leigh Norman, Janet Malcolmson, Susan Randall Armel, Brittany Gillies, Brian Ou, Emily Thain, Jeanna Marie McCuaig, Raymond H Kim

Original research:
Biallelic cGMP-dependent type II protein kinase gene (PRKG2) variants cause a novel acromesomelic dysplasia
(26 October, 2020)
Francisca Díaz-González, Saruchi Wadhwa, Maria Rodriguez-Zabala, Somesh Kumar, Miriam Aza-Carmona, Lucia Sentchordi-Montané, Milagros Alonso, Istaq Ahmad, Sana Zahra, Deepak Kumar, Neetu Kushwah, Uzma Shamim, Haseena Sait, Seema Kapoor, Belen Roldán, Gen Nishimura, Amaka C Offiah, Mohammed Faruq, Karen E. Heath

Original research: Linkage analysis identifies an isolated strabismus locus at 14q12 overlapping with FOXG1 syndrome region (30 November, 2020)
Xin (Cynthia) Ye, Nicole M Roslin, Andrew D Paterson, Christopher J Lyons, Victor Pegado, Phillip Richmond, Casper Shyr, Oriol Fornes, XiaoHua Han, Michelle Higginson, Colin J Ross, Deborah Giaschi, Cheryl Gregory-Evans, Millan S Patel, Wyeth W Wasserman

Original research: Characteristics of germline mutations in Korean patients with pheochromocytoma/paraganglioma (20 November, 2020)
Jung Hee Kim, Man Jin Kim, Sung Hye Kong, Su Jin Kim, Hyein Kang, Chan Soo Shin, Sung Sup Park, Kyu Eun Lee, Moon-Woo Seong
Original research: WFS1 protein expression correlates with clinical progression of optic atrophy in patients with Wolfram syndrome (18 May, 2021)
Kun Hu, Malgorzata Zatyka, Dewi Astuti, Nicola Beer, Renuka P Dias, Archana Kulkarni, John Ainsworth, Benjamin Wright, Anna Majander, Patrick Yu-Wai-Man, Denise Williams, Timothy Barrett

Short report: Screening of CNVs using NGS data improves mutation detection yield and decreases costs in genetic testing for hereditary cancer (20 November, 2020)
José Marcos Moreno-Cabrera, Jesús del Valle, Lidia Feliubadaló, Marta Pineda, Sara González, Olga Campos, Raquel Cuesta, Joan Brunet, Eduard Serra, Gabriel Capellà, Bernat Gel, Conxi Lázaro

Original research:
MELAS-associated m.5541C>T mutation caused instability of mitochondrial tRNA^Trp and remarkable mitochondrial dysfunction
(18 November, 2020)
Kunqian Ji, Yan Lin, Xuebi Xu, Wei Wang, Dongdong Wang, Chen Zhang, Wei Li, Yuying Zhao, Chuanzhu Yan
Original research: Dysfunction of VIPR2 leads to myopia in humans and mice (14 December, 2020)
Fuxin Zhao, Qihang Li, Wei Chen, He Zhu, Dengke Zhou, Peter Sol Reinach, Zhenglin Yang, Mingguang He, Anquan Xue, Deng Wu, Tianzi Liu, Qian Fu, Changqing Zeng, Jia Qu, Xiangtian Zhou