CLINICAL

Hirschsprung disease, associated syndromes and genetics: a review
J Amiel, E Sproat-Emison, M Garcia-Barcelo, F Lantieri, G Burzynski, S Borrego, A Pelet, S Arnold, X Miao, P Griseri, A S Brooks, G Antinolo, L de Pontual, M Clement-Ziza, A Munnich, C Kashuk, K West, K K-Y Wong, S Lyonnet, A Chakravarti, P K-H Tam, I Ceccherini, R M W Hofstra, R Fernandez, for the Hirschsprung Disease Consortium

Journal of Medical Genetics Jan 2008, 45 (1) 1-14; DOI: 10.1136/jmg.2007.053959
New and recurrent gain-of-function STAT1 mutations in patients with chronic mucocutaneous candidiasis from Eastern and Central Europe
Beáta Soltész, Beáta Tóth, Nadejda Shabashova, Anastasia Bondarenko, Satoshi Okada, Sophie Cypowyj, Avinash Abhyankar, Gabriella Csorba, Szilvia Taskó, Adrien Katalin Sarkadi, Leonóra Méhes, Pavel Rozsíval, David Neumann, Liudmyla Chernyshova, Zsolt Tulassay, Anne Puel, Jean-Laurent Casanova, Anna Sediva, Jiri Litzman, László Maródi

Journal of Medical Genetics Sep 2013, 50 (9) 567-578; DOI: 10.1136/jmedgenet-2013-101570
Comprehensive genotype–phenotype analysis in 230 patients with tetralogy of Fallot
Ralf Rauch, Michael Hofbeck, Christiane Zweier, Andreas Koch, Stefan Zink, Udo Trautmann, Juliane Hoyer, Renate Kaulitz, Helmut Singer, Anita Rauch

Journal of Medical Genetics May 2010, 47 (5) 321-331; DOI: 10.1136/jmg.2009.070391
MDM2 SNP309 accelerates colorectal tumour formation in women
Gareth L Bond, Chiara Menin, Roberta Bertorelle, Pia Alhopuro, Lauri A Aaltonen, Arnold J Levine

Journal of Medical Genetics Dec 2006, 43 (12) 950-952; DOI: 10.1136/jmg.2006.043539
A dominant gene for developmental dyslexia on chromosome 3
Jaana Nopola-Hemmi, Birgitta Myllyluoma, Tuomas Haltia, Mikko Taipale, Vesa Ollikainen, Timo Ahonen, Arja Voutilainen, Juha Kere, Elisabeth Widén

Journal of Medical Genetics Oct 2001, 38 (10) 658-664; DOI: 10.1136/jmg.38.10.658
MuSK: a new target for lethal fetal akinesia deformation sequence (FADS)
Maria Wilbe, Sara Ekvall, Karin Eurenius, Katharina Ericson, Olivera Casar-Borota, Joakim Klar, Niklas Dahl, Adam Ameur, Göran Annerén, Marie-Louise Bondeson

Journal of Medical Genetics Mar 2015, 52 (3) 195-202; DOI: 10.1136/jmedgenet-2014-102730
EIF4G1 is neither a strong nor a common risk factor for Parkinson's disease: evidence from large European cohorts
Johanna Huttenlocher, Rejko Krüger, Philipp Capetian, Katja Lohmann, Kathrin Brockmann, Ilona Csoti, Christine Klein, Daniela Berg, Thomas Gasser, Michael Bonin, Olaf Riess, Peter Bauer

Journal of Medical Genetics Jan 2015, 52 (1) 37-41; DOI: 10.1136/jmedgenet-2014-102570
GATAD2B loss-of-function mutations cause a recognisable syndrome with intellectual disability and are associated with learning deficits and synaptic undergrowth in Drosophila
Marjolein H Willemsen, Bonnie Nijhof, Michaela Fenckova, Willy M Nillesen, Ernie M H F Bongers, Anna Castells-Nobau, Lenke Asztalos, Erika Viragh, Bregje W M van Bon, Emre Tezel, Joris A Veltman, Han G Brunner, Bert B A de Vries, Joep de Ligt, Helger G Yntema, Hans van Bokhoven, Bertrand Isidor, Cédric Le Caignec, Elsa Lorino, Zoltan Asztalos, David A Koolen, Lisenka E L M Vissers, Annette Schenck, Tjitske Kleefstra

Journal of Medical Genetics Aug 2013, 50 (8) 507-514; DOI: 10.1136/jmedgenet-2012-101490
RPGR is mutated in patients with a complex X linked phenotype combining primary ciliary dyskinesia and retinitis pigmentosa
A Moore, E Escudier, G Roger, A Tamalet, B Pelosse, S Marlin, A Clément, M Geremek, B Delaisi, A-M Bridoux, A Coste, M Witt, B Duriez, S Amselem

Journal of Medical Genetics Apr 2006, 43 (4) 326-333; DOI: 10.1136/jmg.2005.034868
Genetics of microtia and associated syndromes
F Alasti, G Van Camp

Journal of Medical Genetics Jun 2009, 46 (6) 361-369; DOI: 10.1136/jmg.2008.062158

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