CLINICAL

3q27.3 microdeletional syndrome: a recognisable clinical entity associating dysmorphic features, marfanoid habitus, intellectual disability and psychosis with mood disorder
Julien Thevenon, Patrick Callier, Hélène Poquet, Iben Bache, Bjorn Menten, Valérie Malan, Maria Luigia Cavaliere, Jean-Paul Girod, Christel Thauvin-Robinet, Salima El Chehadeh, Jean-Michel Pinoit, Frederic Huet, Bruno Verges, Jean-Michel Petit, Anne-Laure Mosca-Boidron, Nathalie Marle, Francine Mugneret, Alice Masurel-Paulet, Antonio Novelli, Zeynep Tümer, Bart Loeys, Stanislas Lyonnet, Laurence Faivre

Journal of Medical Genetics Jan 2014, 51 (1) 21-27; DOI: 10.1136/jmedgenet-2013-101939
Molecular pathogenesis of Wilson and Menkes disease: correlation of mutations with molecular defects and disease phenotypes
P de Bie, P Muller, C Wijmenga, L W J Klomp

Journal of Medical Genetics Nov 2007, 44 (11) 673-688; DOI: 10.1136/jmg.2007.052746
Comparison of targeted and whole genome analysis of postnatal specimens using a commercially available array based comparative genomic hybridisation (aCGH) microarray platform
E Aston, H Whitby, T Maxwell, N Glaus, B Cowley, D Lowry, X L Zhu, B Issa, S T South, A R Brothman

Journal of Medical Genetics May 2008, 45 (5) 268-274; DOI: 10.1136/jmg.2007.055319
The genetic basis of congenital hyperinsulinism
C James, R R Kapoor, D Ismail, K Hussain

Journal of Medical Genetics May 2009, 46 (5) 289-299; DOI: 10.1136/jmg.2008.064337
Somatic point mutations occurring early in development: a monozygotic twin study
Rui Li, Alexandre Montpetit, Marylène Rousseau, Si Yu Margaret Wu, Celia M T Greenwood, Timothy D Spector, Michael Pollak, Constantin Polychronakos, J Brent Richards

Journal of Medical Genetics Jan 2014, 51 (1) 28-34; DOI: 10.1136/jmedgenet-2013-101712
Epidermolysis bullosa. II. Type VII collagen mutations and phenotype–genotype correlations in the dystrophic subtypes
Roslyn Varki, Sara Sadowski, Jouni Uitto, Ellen Pfendner

Journal of Medical Genetics Mar 2007, 44 (3) 181-192; DOI: 10.1136/jmg.2006.045302
GATA4 sequence variants in patients with congenital heart disease
A Tomita-Mitchell, C L Maslen, C D Morris, V Garg, E Goldmuntz

Journal of Medical Genetics Dec 2007, 44 (12) 779-783; DOI: 10.1136/jmg.2007.052183
Congenital heart disease is a feature of severe infantile spinal muscular atrophy
S Rudnik-Schöneborn, R Heller, C Berg, C Betzler, T Grimm, T Eggermann, K Eggermann, R Wirth, B Wirth, K Zerres

Journal of Medical Genetics Oct 2008, 45 (10) 635-638; DOI: 10.1136/jmg.2008.057950
Exome sequencing identified a missense mutation of EPS8L3 in Marie Unna hereditary hypotrichosis
Xin Zhang, Bi-Rong Guo, Li-Qiong Cai, Tao Jiang, Liang-Dan Sun, Yong Cui, Jing-Chu Hu, Jun Zhu, Gang Chen, Xian-Fa Tang, Guang-Qing Sun, Hua-Yang Tang, Yuan Liu, Min Li, Qi-Bin Li, Hui Cheng, Min Gao, Ping Li, Xu Yang, Xian-Bo Zuo, Xiao-Dong Zheng, Pei-Guang Wang, Jian Wang, Jun Wang, Jian-Jun Liu, Sen Yang, Ying-Rui Li, Xue-Jun Zhang

Journal of Medical Genetics Dec 2012, 49 (12) 727-730; DOI: 10.1136/jmedgenet-2012-101134
The importance of genetic diagnosis for Duchenne muscular dystrophy
Annemieke Aartsma-Rus, Ieke B Ginjaar, Kate Bushby

Journal of Medical Genetics Mar 2016, 53 (3) 145-151; DOI: 10.1136/jmedgenet-2015-103387

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