Journal of Medical Genetics: 55 (5)

Cardiovascular genetics

Original Article:
Mutation of IFNLR1, an interferon lambda receptor 1, is associated with autosomal-dominant non-syndromic hearing loss
(16 February, 2018)
Xue Gao, Yong-Yi Yuan, Qiong-Fen Lin, Jin-Cao Xu, Wei-Qian Wang, Yue-Hua Qiao, Dong-Yang Kang, Dan Bai, Feng Xin, Sha-Sha Huang, Shi-Wei Qiu, Li-Ping Guan, Yu Su, Guo-Jian Wang, Ming-Yu Han, Yi Jiang, Han-Kui Liu, Pu Dai

Original Article: Hormonal, metabolic and skeletal phenotype of Schaaf-Yang syndrome: a comparison to Prader-Willi syndrome (1 March, 2018)
John M McCarthy, Bonnie M McCann-Crosby, Megan E Rech, Jiani Yin, Chun-An Chen, May A Ali, HaiThuy N Nguyen, Jennifer L Miller, Christian P Schaaf
Short Report:
Chitayat-Hall and Schaaf-Yang syndromes:a common aetiology: expanding the phenotype of MAGEL2-related disorders
(29 March, 2018)
Rebekah Jobling, Dimitri James Stavropoulos, Christian R Marshall, Cheryl Cytrynbaum, Michelle M Axford, Vanessa Londero, Sharon Moalem, Jennifer Orr, Francis Rossignol, Fatima Daniela Lopes, Julie Gauthier, Nathalie Alos, Rosemarie Rupps, Margaret McKinnon, Shelin Adam, Malgorzata J M Nowaczyk, Susan Walker, Stephen W Scherer, Christina Nassif, Fadi F Hamdan, Cheri L Deal, Jean-François Soucy, Rosanna Weksberg, Patrick Macleod, Jacques L Michaud, David Chitayat

Original Article: Risk factors for survival in patients with von Hippel-Lindau disease (12 January, 2018)
Jiang-Yi Wang, Shuang-He Peng, Teng Li, Xiang-Hui Ning, Sheng-Jie Liu, Bao-An Hong, Jia-Yuan Liu, Peng-Jie Wu, Bo-Wen Zhou, Jing-Cheng Zhou, Nie-Nie Qi, Xiang Peng, Jiu-Feng Zhang, Kai-Fang Ma, Lin Cai, Kan Gong

Original Article: Functional and clinical relevance of novel mutations in a large cohort of patients with Cockayne syndrome (23 March, 2018) Free
Nadege Calmels, Elena Botta, Nan Jia, Heather Fawcett, Tiziana Nardo, Yuka Nakazawa, Manuela Lanzafame, Shinichi Moriwaki, Katsuo Sugita, Masaya Kubota, Cathy Obringer, Marie-Aude Spitz, Miria Stefanini, Vincent Laugel, Donata Orioli, Tomoo Ogi, Alan Robert Lehmann

Original Article:
Evaluation of the relative effectiveness of the 2017 updated Manchester scoring system for predicting BRCA1/2 mutations in a Southeast Asian country
(23 December, 2017)
Winston Chew, Rajesh Babu Moorakonda, Eliza Courtney, Hazel Soh, Shao Tzu Li, Yanni Chen, Tarryn Shaw, John Carson Allen, Dafydd Gareth R Evans, Joanne Ngeow

Original Article: Agalsidase alfa versus agalsidase beta for the treatment of Fabry disease: an international cohort study (7 February, 2018)
Maarten Arends, Marieke Biegstraaten, Christoph Wanner, Sandra Sirrs, Atul Mehta, Perry M Elliott, Daniel Oder, Oliver T Watkinson, Daniel G Bichet, Aneal Khan, Mark Iwanochko, Frédéric M Vaz, André B P van Kuilenburg, Michael L West, Derralynn A Hughes, Carla E M Hollak