Epidemiology

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
Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: a new series of 140 patients and review of published reports
B Menten, N Maas, B Thienpont, K Buysse, J Vandesompele, C Melotte, T de Ravel, S Van Vooren, I Balikova, L Backx, S Janssens, A De Paepe, B De Moor, Y Moreau, P Marynen, J-P Fryns, G Mortier, K Devriendt, F Speleman, J R Vermeesch

Journal of Medical Genetics Aug 2006, 43 (8) 625-633; DOI: 10.1136/jmg.2005.039453
A founder MYBPC3 mutation results in HCM with a high risk of sudden death after the fourth decade of life
Chiara Calore, Marzia De Bortoli, Chiara Romualdi, Alessandra Lorenzon, Annalisa Angelini, Cristina Basso, Gaetano Thiene, Sabino Iliceto, Alessandra Rampazzo, Paola Melacini

Journal of Medical Genetics May 2015, 52 (5) 338-347; DOI: 10.1136/jmedgenet-2014-102923
Mutations in HECW2 are associated with intellectual disability and epilepsy
Jonatan Halvardson, Jin J Zhao, Ammar Zaghlool, Christian Wentzel, Patrik Georgii-Hemming, Else Månsson, Helena Ederth Sävmarker, Göran Brandberg, Cecilia Soussi Zander, Ann-Charlotte Thuresson, Lars Feuk

Journal of Medical Genetics Oct 2016, 53 (10) 697-704; DOI: 10.1136/jmedgenet-2016-103814
Effect of TNF and LTA polymorphisms on biological markers of response to oxidative stimuli in coal miners: a model of gene-environment interaction
R Nadif, A Jedlicka, M Mintz, J-P Bertrand, S Kleeberger, F Kauffmann

Journal of Medical Genetics Feb 2003, 40 (2) 96-103; DOI: 10.1136/jmg.40.2.96
Functional and genetic epidemiological characterisation of the FFAR4 (GPR120) p.R270H variant in the Danish population
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

Journal of Medical Genetics Sep 2016, 53 (9) 616-623; DOI: 10.1136/jmedgenet-2015-103728
A recurrent mitochondrial p.Trp22Arg NDUFB3 variant causes a distinctive facial appearance, short stature and a mild biochemical and clinical phenotype
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

Journal of Medical Genetics Sep 2016, 53 (9) 634-641; DOI: 10.1136/jmedgenet-2015-103576
Targeted sequence capture and GS-FLX Titanium sequencing of 23 hypertrophic and dilated cardiomyopathy genes: implementation into diagnostics
Olaf R F Mook, Martin A Haagmans, Jean-François Soucy, Judith B A van de Meerakker, Frank Baas, Marja E Jakobs, Nynke Hofman, Imke Christiaans, Ronald H Lekanne Deprez, Marcel M A M Mannens

Journal of Medical Genetics Sep 2013, 50 (9) 614-626; DOI: 10.1136/jmedgenet-2012-101231
Delineating the genetic heterogeneity of ALS using targeted high-throughput sequencing
Kevin P Kenna, Russell L McLaughlin, Susan Byrne, Marwa Elamin, Mark Heverin, Elaine M Kenny, Paul Cormican, Derek W Morris, Colette G Donaghy, Daniel G Bradley, Orla Hardiman

Journal of Medical Genetics Nov 2013, 50 (11) 776-783; DOI: 10.1136/jmedgenet-2013-101795
Advances in osteoarthritis genetics
Kalliope Panoutsopoulou, Eleftheria Zeggini

Journal of Medical Genetics Nov 2013, 50 (11) 715-724; DOI: 10.1136/jmedgenet-2013-101754

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