Journal of Medical Genetics: 53 (9)

Immunogenetics

Genes associated with common variable immunodeficiency: one diagnosis to rule them all? (1 June, 2016) Free
Delfien J A Bogaert, Melissa Dullaers, Bart N Lambrecht, Karim Y Vermaelen, Elfride De Baere, Filomeen Haerynck

Original article: Identification of genomic deletions causing inherited retinal degenerations by coverage analysis of whole exome sequencing data (22 April, 2016)
Samer Khateb, Mor Hanany, Ayat Khalaileh, Avigail Beryozkin, Segev Meyer, Alaa Abu-Diab, Fathieh Abu Turky, Liliana Mizrahi-Meissonnier, Sari Lieberman, Tamar Ben-Yosef, Eyal Banin, Dror Sharon

Original article:
Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes
(6 May, 2016)
Susanne Roosing, Marta Romani, Mala Isrie, Rasim Ozgur Rosti, Alessia Micalizzi, Damir Musaev, Tommaso Mazza, Lihadh Al-gazali, Umut Altunoglu, Eugen Boltshauser, Stefano D'Arrigo, Bart De Keersmaecker, Hülya Kayserili, Sarah Brandenberger, Ichraf Kraoua, Paul R Mark, Trudy McKanna, Joachim Van Keirsbilck, Philippe Moerman, Andrea Poretti, Ratna Puri, Hilde Van Esch, Joseph G Gleeson, Enza Maria Valente

Original article:
Functional and genetic epidemiological characterisation of the FFAR4 (GPR120) p.R270H variant in the Danish population
(11 April, 2016)
Marie A Vestmar, Ehm A Andersson, Charlotte R Christensen, Maria Hauge, Charlotte Glümer, Allan Linneberg, Daniel R Witte, Marit E Jørgensen, Cramer Christensen, Ivan Brandslund, Torsten Lauritzen, Oluf Pedersen, Birgitte Holst, Niels Grarup, Thue W Schwartz, Torben Hansen
Original article:
A splicing mutation in VPS4B causes dentin dysplasia I
(31 May, 2016)
Qi Yang, Dong Chen, Fu Xiong, Danna Chen, Cuixian Liu, Yanhui Liu, Qiuxia Yu, Jun Xiong, Jinzhong Liu, Kunyang Li, Lingfeng Zhao, Yuhua Ye, Hong Zhou, Lingling Hu, Zhihui Tian, Xuan Shang, Leitao Zhang, Xiaofeng Wei, Wanjun Zhou, Dongri Li, Wenqing Zhang, Xiangmin Xu
Short report:
A recurrent mitochondrial p.Trp22Arg NDUFB3 variant causes a distinctive facial appearance, short stature and a mild biochemical and clinical phenotype
(18 April, 2016)
Charlotte L Alston, Caoimhe Howard, Monika Oláhová, Steven A Hardy, Langping He, Philip G Murray, Siobhan O'Sullivan, Gary Doherty, Julian P H Shield, Iain P Hargreaves, Ardeshir A Monavari, Ina Knerr, Peter McCarthy, Andrew A M Morris, David R Thorburn, Holger Prokisch, Peter E Clayton, Robert McFarland, Joanne Hughes, Ellen Crushell, Robert W Taylor

Short report: Complex clonal mosaicism within microdissected intestinal metaplastic glands without concurrent gastric cancer (9 June, 2016)
Yan Guo, Ayuan Huang, Chuansheng Hu, Yan Zhou, Xiaodan Zhang, Daniel M Czajkowsky, Jianfang Li, Shidan Cheng, Ruizhe Shen, Jianren Gu, Bingya Liu, Zhifeng Shao