Editor's choice

BHD mutations, clinical and molecular genetic investigations of Birt–Hogg–Dubé syndrome: a new series of 50 families and a review of published reports
J R Toro, M-H Wei, G M Glenn, M Weinreich, O Toure, C Vocke, M Turner, P Choyke, M J Merino, P A Pinto, S M Steinberg, L S Schmidt, W M Linehan

Journal of Medical Genetics Jun 2008, 45 (6) 321-331; DOI: 10.1136/jmg.2007.054304
Mutations in PCDH21 cause autosomal recessive cone-rod dystrophy
E Ostergaard, M Batbayli, M Duno, K Vilhelmsen, T Rosenberg

Journal of Medical Genetics Oct 2010, 47 (10) 665-669; DOI: 10.1136/jmg.2009.069120
Rare familial 16q21 microdeletions under a linkage peak implicate cadherin 8 (CDH8) in susceptibility to autism and learning disability
Alistair T Pagnamenta, Hameed Khan, Susan Walker, Dianne Gerrelli, Kirsty Wing, Maria Clara Bonaglia, Roberto Giorda, Tom Berney, Elisa Mani, Massimo Molteni, Dalila Pinto, Ann Le Couteur, Joachim Hallmayer, James S Sutcliffe, Peter Szatmari, Andrew D Paterson, Stephen W Scherer, Veronica J Vieland, Anthony P Monaco

Journal of Medical Genetics Jan 2011, 48 (1) 48-54; DOI: 10.1136/jmg.2010.079426
Discovery of a frameshift mutation in podocalyxin-like (PODXL) gene, coding for a neural adhesion molecule, as causal for autosomal-recessive juvenile Parkinsonism
Sumedha Sudhaman, Kameshwar Prasad, Madhuri Behari, Uday B Muthane, Ramesh C Juyal, BK Thelma

Journal of Medical Genetics Jul 2016, 53 (7) 450-456; DOI: 10.1136/jmedgenet-2015-103459
Clinical and molecular features associated with biallelic mutations in FANCD1/BRCA2
Blanche P Alter, Philip S Rosenberg, Lawrence C Brody

Journal of Medical Genetics Jan 2007, 44 (1) 1-9; DOI: 10.1136/jmg.2006.043257
Melanoma genetics
Jazlyn Read, Karin A W Wadt, Nicholas K Hayward

Journal of Medical Genetics Jan 2016, 53 (1) 1-14; DOI: 10.1136/jmedgenet-2015-103150
Autism traits in the RASopathies
Brigid Adviento, Iris L Corbin, Felicia Widjaja, Guillaume Desachy, Nicole Enrique, Tena Rosser, Susan Risi, Elysa J Marco, Robert L Hendren, Carrie E Bearden, Katherine A Rauen, Lauren A Weiss

Journal of Medical Genetics Jan 2014, 51 (1) 10-20; DOI: 10.1136/jmedgenet-2013-101951
Defective NDUFA9 as a novel cause of neonatally fatal complex I disease
B J C van den Bosch, M Gerards, W Sluiter, A P A Stegmann, E L C Jongen, D M E I Hellebrekers, R Oegema, E H Lambrichs, H Prokisch, K Danhauser, K Schoonderwoerd, I F M de Coo, H J M Smeets

Journal of Medical Genetics Jan 2012, 49 (1) 10-15; DOI: 10.1136/jmedgenet-2011-100466
A novel mitochondrial ATP8 gene mutation in a patient with apical hypertrophic cardiomyopathy and neuropathy
A I Jonckheere, M Hogeveen, L G J Nijtmans, M A M van den Brand, A J M Janssen, J H S Diepstra, F C A van den Brandt, L P van den Heuvel, F A Hol, T G J Hofste, L Kapusta, U Dillmann, M G Shamdeen, J A M Smeitink, R J T Rodenburg

Journal of Medical Genetics Mar 2008, 45 (3) 129-133; DOI: 10.1136/jmg.2007.052084
Role of PRRT2 in common paroxysmal neurological disorders: a gene with remarkable pleiotropy
Sarah E Heron, Leanne M Dibbens

Journal of Medical Genetics Mar 2013, 50 (3) 133-139; DOI: 10.1136/jmedgenet-2012-101406

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