Journal of Medical Genetics: 54 (10)

Policy

Regulating the advertising of genetic tests in Europe: a balancing act (22 July, 2017)
Louiza Kalokairinou, Pascal Borry, Heidi Carmen Howard

Original Article: Genetic Severity Score predicts clinical phenotype in NF2 (28 August, 2017)
Dorothy Halliday, Beatrice Emmanouil, Pieter Pretorius, Samuel MacKeith, Sally Painter, Helen Tomkins, D Gareth Evans, Allyson Parry
Original Article:
A common SLC26A4-linked haplotype underlying non-syndromic hearing loss with enlargement of the vestibular aqueduct
(5 August, 2017)
Parna Chattaraj, Tina Munjal, Keiji Honda, Nanna D Rendtorff, Jessica S Ratay, Julie A Muskett, Davide S Risso, Isabelle Roux, E Michael Gertz, Alejandro A Schäffer, Thomas B Friedman, Robert J Morell, Lisbeth Tranebjærg, Andrew J Griffith

Original Article: Assessing genome-wide copy number variation in the Han Chinese population (13 July, 2017)
Jianqi Lu, Haiyi Lou, Ruiqing Fu, Dongsheng Lu, Feng Zhang, Zhendong Wu, Xi Zhang, Changhua Li, Baijun Fang, Fangfang Pu, Jingning Wei, Qian Wei, Chao Zhang, Xiaoji Wang, Yan Lu, Shi Yan, Yajun Yang, Li Jin, Shuhua Xu

Original Article: Preimplantation genetic diagnosis for mitochondrial DNA mutations: analysis of one blastomere suffices (1 July, 2017)
Suzanne C E H Sallevelt, Joseph C F M Dreesen, Edith Coonen, Aimee D C Paulussen, Debby M E I Hellebrekers, Christine E M de Die-Smulders, Hubert J M Smeets, Patrick Lindsey

Original Article:
Mutations in SCAPER cause autosomal recessive retinitis pigmentosa with intellectual disability
(9 August, 2017)
Yasmin Tatour, Iker Sanchez-Navarro, Elana Chervinsky, Hakon Hakonarson, Haithum Gawi, Saoud Tahsin-Swafiri, Rina Leibu, Maria Isabel Lopez-Molina, Guillermo Fernandez-Sanz, Carmen Ayuso, Tamar Ben-Yosef

Original article: Identification of the first dominant mutation of LAMA5 gene causing a complex multisystem syndrome due to dysfunction of the extracellular matrix (22 July, 2017)
Simone Sampaolo, Filomena Napolitano, Alfonsina Tirozzi, Mafalda Giovanna Reccia, Luca Lombardi, Olimpia Farina, Adriano Barra, Ferdinando Cirillo, Mariarosa Anna Beatrice Melone, Fernando Gianfrancesco, Giuseppe Di Iorio, Teresa Esposito