Editor's choice

Genetic architectures of ADME genes in five Eurasian admixed populations and implications for drug safety and efficacy
Jing Li, Haiyi Lou, Xiong Yang, Dongsheng Lu, Shilin Li, Li Jin, Xinwei Pan, Wenjun Yang, Manshu Song, Dolikun Mamatyusupu, Shuhua Xu

Journal of Medical Genetics Sep 2014, 51 (9) 614-622; DOI: 10.1136/jmedgenet-2014-102530
Comparison of the clinical scoring systems in Silver–Russell syndrome and development of modified diagnostic criteria to guide molecular genetic testing
Renuka P Dias, Peter Nightingale, Carol Hardy, Gail Kirby, Louise Tee, Susan Price, Fiona MacDonald, Timothy G Barrett, Eamonn R Maher

Journal of Medical Genetics Sep 2013, 50 (9) 635-639; DOI: 10.1136/jmedgenet-2013-101693
Mutations in TMEM231 cause Joubert syndrome in French Canadians
Myriam Srour, Fadi F Hamdan, Jeremy A Schwartzentruber, Lysanne Patry, Luis H Ospina, Michael I Shevell, Valérie Désilets, Sylvia Dobrzeniecka, Géraldine Mathonnet, Emmanuelle Lemyre, Christine Massicotte, Damian Labuda, Dina Amrom, Eva Andermann, Guillaume Sébire, Bruno Maranda, FORGE Canada Consortium, Guy A Rouleau, Jacek Majewski, Jacques L Michaud

Journal of Medical Genetics Oct 2012, 49 (10) 636-641; DOI: 10.1136/jmedgenet-2012-101132
Isolated imprinting mutation of the DLK1/GTL2 locus associated with a clinical presentation of maternal uniparental disomy of chromosome 14
I K Temple, V Shrubb, M Lever, H Bullman, D J G Mackay

Journal of Medical Genetics Oct 2007, 44 (10) 637-640; DOI: 10.1136/jmg.2007.050807
Nonsense mutation of the stereociliar membrane protein gene PTPRQ in human hearing loss DFNB84
Hashem Shahin, Michael Rahil, Amal Abu Rayan, Karen B Avraham, Mary-Claire King, Moien Kanaan, Tom Walsh

Journal of Medical Genetics Sep 2010, 47 (9) 643-645; DOI: 10.1136/jmg.2009.075697
Recommendations for somatic and germline genetic testing of single pheochromocytoma and paraganglioma based on findings from a series of 329 patients
Maria Currás-Freixes, Lucía Inglada-Pérez, Veronika Mancikova, Cristina Montero-Conde, Rocío Letón, Iñaki Comino-Méndez, María Apellániz-Ruiz, Lara Sánchez-Barroso, Miguel Aguirre Sánchez-Covisa, Victoria Alcázar, Javier Aller, Cristina Álvarez-Escolá, Víctor M Andía-Melero, Sharona Azriel-Mira, María Calatayud-Gutiérrez, José Ángel Díaz, Alberto Díez-Hernández, Cristina Lamas-Oliveira, Mónica Marazuela, Xavier Matias-Guiu, Amparo Meoro-Avilés, Ana Patiño-García, Susana Pedrinaci, Garcilaso Riesco-Eizaguirre, Constantino Sábado-Álvarez, Raquel Sáez-Villaverde, Amaya Sainz de los Terreros, Óscar Sanz Guadarrama, Julia Sastre-Marcos, Bartolomé Scolá-Yurrita, Ángel Segura-Huerta, Maria de la Soledad Serrano-Corredor, María Rosa Villar-Vicente, Cristina Rodríguez-Antona, Esther Korpershoek, Alberto Cascón, Mercedes Robledo

Journal of Medical Genetics Oct 2015, 52 (10) 647-656; DOI: 10.1136/jmedgenet-2015-103218
Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11)
E A Otto, K Tory, M Attanasio, W Zhou, M Chaki, Y Paruchuri, E L Wise, M T F Wolf, B Utsch, C Becker, G Nürnberg, P Nürnberg, A Nayir, S Saunier, C Antignac, F Hildebrandt

Journal of Medical Genetics Oct 2009, 46 (10) 663-670; DOI: 10.1136/jmg.2009.066613
Distinct and replicable genetic risk factors for acute respiratory distress syndrome of pulmonary or extrapulmonary origin
Paula Tejera, Nuala J Meyer, Feng Chen, Rui Feng, Yang Zhao, D Shane O'Mahony, Lin Li, Chau-Chyun Sheu, Rihong Zhai, Zhaoxi Wang, Li Su, Ed Bajwa, Amy M Ahasic, Peter F Clardy, Michelle N Gong, Angela J Frank, Paul N Lanken, B Taylor Thompson, Jason D Christie, Mark M Wurfel, Grant E O'Keefe, David C Christiani

Journal of Medical Genetics Nov 2012, 49 (11) 671-680; DOI: 10.1136/jmedgenet-2012-100972
Juvenile myelomonocytic leukaemia and Noonan syndrome
Marion Strullu, Aurélie Caye, Julie Lachenaud, Bruno Cassinat, Steven Gazal, Odile Fenneteau, Nathalie Pouvreau, Sabrina Pereira, Clarisse Baumann, Audrey Contet, Nicolas Sirvent, Françoise Méchinaud, Isabelle Guellec, Dalila Adjaoud, Catherine Paillard, Corinne Alberti, Martin Zenker, Christine Chomienne, Yves Bertrand, André Baruchel, Alain Verloes, Hélène Cavé

Journal of Medical Genetics Oct 2014, 51 (10) 689-697; DOI: 10.1136/jmedgenet-2014-102611
Clinical and molecular aspects of RAS related disorders
E Denayer, Th de Ravel, E Legius

Journal of Medical Genetics Nov 2008, 45 (11) 695-703; DOI: 10.1136/jmg.2007.055772

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