Epidemiology

Genetic screening of 202 individuals with congenital limb malformations and requiring reconstructive surgery
D Furniss, S-h Kan, I B Taylor, D Johnson, P S Critchley, H P Giele, A O M Wilkie

Journal of Medical Genetics Nov 2009, 46 (11) 730-735; DOI: 10.1136/jmg.2009.066027
Genome-wide linkage scan for maximum and length-dependent knee muscle strength in young men: significant evidence for linkage at chromosome 14q24.3
G De Mars, A Windelinckx, W Huygens, M W Peeters, G P Beunen, J Aerssens, R Vlietinck, M A I Thomis

Journal of Medical Genetics May 2008, 45 (5) 275-283; DOI: 10.1136/jmg.2007.055277
A de novo 1p34.2 microdeletion identifies the synaptic vesicle gene RIMS3 as a novel candidate for autism
Ravinesh A Kumar, Jyotsna Sudi, Timothy D Babatz, Camille W Brune, Donald Oswald, Mayon Yen, Norma J Nowak, Edwin H Cook, Susan L Christian, William B Dobyns

Journal of Medical Genetics Feb 2010, 47 (2) 81-90; DOI: 10.1136/jmg.2008.065821
A pilot open label, single dose trial of fenobam in adults with fragile X syndrome
E Berry-Kravis, D Hessl, S Coffey, C Hervey, A Schneider, J Yuhas, J Hutchison, M Snape, M Tranfaglia, D V Nguyen, R Hagerman

Journal of Medical Genetics Apr 2009, 46 (4) 266-271; DOI: 10.1136/jmg.2008.063701
Clinical and genetic spectrum of Birt–Hogg–Dubé syndrome patients in whom pneumothorax and/or multiple lung cysts are the presenting feature
Makiko Kunogi, Masatoshi Kurihara, Takako Shigihara Ikegami, Toshiyuki Kobayashi, Noriko Shindo, Toshio Kumasaka, Yoko Gunji, Mika Kikkawa, Shin-ichiro Iwakami, Okio Hino, Kazuhisa Takahashi, Kuniaki Seyama

Journal of Medical Genetics Apr 2010, 47 (4) 281-287; DOI: 10.1136/jmg.2009.070565
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
Cluster-randomised non-inferiority trial comparing DVD-assisted and traditional genetic counselling in systematic population testing for BRCA1/2 mutations
Ranjit Manchanda, Matthew Burnell, Kelly Loggenberg, Rakshit Desai, Jane Wardle, Saskia C Sanderson, Sue Gessler, Lucy Side, Nyala Balogun, Ajith Kumar, Huw Dorkins, Yvonne Wallis, Cyril Chapman, Ian Tomlinson, Rohan Taylor, Chris Jacobs, Rosa Legood, Maria Raikou, Alistair McGuire, Uziel Beller, Usha Menon, Ian Jacobs

Journal of Medical Genetics Jul 2016, 53 (7) 472-480; DOI: 10.1136/jmedgenet-2015-103740
Expansion of the clinical phenotype associated with mutations in activity-dependent neuroprotective protein
Matthew F Pescosolido, Matthew Schwede, Ashley Johnson Harrison, Michael Schmidt, Ece D Gamsiz, Wendy S Chen, John P Donahue, Natasha Shur, Beth A Jerskey, Chanika Phornphutkul, Eric M Morrow

Journal of Medical Genetics Sep 2014, 51 (9) 587-589; DOI: 10.1136/jmedgenet-2014-102444
HSP110 T17 simplifies and improves the microsatellite instability testing in patients with colorectal cancer
Olivier Buhard, Anaïs Lagrange, Agathe Guilloux, Chrystelle Colas, Mouna Chouchène, Kristell Wanherdrick, Florence Coulet, Erell Guillerm, Coralie Dorard, Laetitia Marisa, Adem Bokhari, Malorie Greene, Nizar El-Murr, Sahra Bodo, Martine Muleris, Isabelle Sourouille, Magali Svrcek, Pascale Cervera, Hélène Blanché, Jérémie H Lefevre, Yann Parc, Come Lepage, Caroline Chapusot, Anne-Marie Bouvier, Marie-Pierre Gaub, Janick Selves, Kerryn Garrett, Barry Iacopetta, Richie Soong, Richard Hamelin, Carmen Garrido, Olivier Lascols, Thierry André, Jean-François Fléjou, Ada Collura, Alex Duval

Journal of Medical Genetics Jun 2016, 53 (6) 377-384; DOI: 10.1136/jmedgenet-2015-103518
Deficiency of the alkaline ceramidase ACER3 manifests in early childhood by progressive leukodystrophy
Simon Edvardson, Jae Kyo Yi, Chaim Jalas, Ruijuan Xu, Bryn D Webb, Justin Snider, Anastasia Fedick, Elisheva Kleinman, Nathan R Treff, Cungui Mao, Orly Elpeleg

Journal of Medical Genetics Jun 2016, 53 (6) 389-396; DOI: 10.1136/jmedgenet-2015-103457

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