Cardiovascular medicine

Whole-exome sequencing identifies a mutation in the mitochondrial ribosome protein MRPL44 to underlie mitochondrial infantile cardiomyopathy
Christopher J Carroll, Pirjo Isohanni, Rosanna Pöyhönen, Liliya Euro, Uwe Richter, Virginia Brilhante, Alexandra Götz, Taina Lahtinen, Anders Paetau, Helena Pihko, Brendan J Battersby, Henna Tyynismaa, Anu Suomalainen

Journal of Medical Genetics Mar 2013, 50 (3) 151-159; DOI: 10.1136/jmedgenet-2012-101375
Use of targeted exome sequencing as a diagnostic tool for Familial Hypercholesterolaemia
Marta Futema, Vincent Plagnol, Ros A Whittall, H Andrew W Neil, Steve Eric Humphries

Journal of Medical Genetics Oct 2012, 49 (10) 644-649; DOI: 10.1136/jmedgenet-2012-101189
Recessive germline SDHA and SDHB mutations causing leukodystrophy and isolated mitochondrial complex II deficiency
Charlotte L Alston, James E Davison, Francesca Meloni, Francois H van der Westhuizen, Langping He, Hue-Tran Hornig-Do, Andrew C Peet, Paul Gissen, Paola Goffrini, Ileana Ferrero, Evangeline Wassmer, Robert McFarland, Robert W Taylor

Journal of Medical Genetics Sep 2012, 49 (9) 569-577; DOI: 10.1136/jmedgenet-2012-101146
Complex I deficiency: clinical features, biochemistry and molecular genetics
Elisa Fassone, Shamima Rahman

Journal of Medical Genetics Sep 2012, 49 (9) 578-590; DOI: 10.1136/jmedgenet-2012-101159
Translational genomic medicine: common metabolic traits and ancestral components of Mexican Americans
Hui-Qi Qu, Quan Li, Yang Lu, Susan P Fisher-Hoch, Joseph B McCormick

Journal of Medical Genetics Aug 2012, 49 (8) 545-546; DOI: 10.1136/jmedgenet-2012-100966
Promoter methylation in coagulation F7 gene influences plasma FVII concentrations and relates to coronary artery disease
Simonetta Friso, Valentina Lotto, Sang-Woon Choi, Domenico Girelli, Mirko Pinotti, Patrizia Guarini, Silvia Udali, Patrizia Pattini, Francesca Pizzolo, Nicola Martinelli, Roberto Corrocher, Francesco Bernardi, Oliviero Olivieri

Journal of Medical Genetics Mar 2012, 49 (3) 192-199; DOI: 10.1136/jmedgenet-2011-100195
Complete loss of expression of the ANT1 gene causing cardiomyopathy and myopathy
Andoni Echaniz-Laguna, Maïté Chassagne, Jennifer Ceresuela, Isabelle Rouvet, Sylvie Padet, Cécile Acquaviva, Serge Nataf, Stéphane Vinzio, Dominique Bozon, Bénédicte Mousson de Camaret

Journal of Medical Genetics Feb 2012, 49 (2) 146-150; DOI: 10.1136/jmedgenet-2011-100504
Sex differences in reproductive fitness contribute to preferential maternal transmission of 22q11.2 deletions
Gregory Costain, Eva W C Chow, Candice K Silversides, Anne S Bassett

Journal of Medical Genetics Dec 2011, 48 (12) 819-824; DOI: 10.1136/jmedgenet-2011-100440
Association of a genetic variant of BTN2A1 with metabolic syndrome in East Asian populations
Mitsutoshi Oguri, Kimihiko Kato, Tetsuro Yoshida, Tetsuo Fujimaki, Hideki Horibe, Kiyoshi Yokoi, Sachiro Watanabe, Kei Satoh, Yukitoshi Aoyagi, Masashi Tanaka, Hiroto Yoshida, Shoji Shinkai, Yoshinori Nozawa, Dong-jik Shin, Jon Ho Lee, Yangsoo Jang, Yoshiji Yamada

Journal of Medical Genetics Nov 2011, 48 (11) 787-792; DOI: 10.1136/jmg.2010.088138
Mutations in the mitochondrial complex I assembly factor NDUFAF1 cause fatal infantile hypertrophic cardiomyopathy
Elisa Fassone, Jan-Willem Taanman, Iain P Hargreaves, Neil J Sebire, Maureen A Cleary, Michael Burch, Shamima Rahman

Journal of Medical Genetics Oct 2011, 48 (10) 691-697; DOI: 10.1136/jmedgenet-2011-100340

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