CLINICAL

HACE1 deficiency causes an autosomal recessive neurodevelopmental syndrome
Ronja Hollstein, David A Parry, Lisa Nalbach, Clare V Logan, Tim M Strom, Verity L Hartill, Ian M Carr, Georg C Korenke, Sandeep Uppal, Mushtaq Ahmed, Thomas Wieland, Alexander F Markham, Christopher P Bennett, Gabriele Gillessen-Kaesbach, Eamonn G Sheridan, Frank J Kaiser, David T Bonthron

Journal of Medical Genetics Dec 2015, 52 (12) 797-803; DOI: 10.1136/jmedgenet-2015-103344
High frequency of de novo mutations in Li–Fraumeni syndrome
K D Gonzalez, C H Buzin, K A Noltner, D Gu, W Li, D Malkin, S S Sommer

Journal of Medical Genetics Oct 2009, 46 (10) 689-693; DOI: 10.1136/jmg.2008.058958
Friedreich ataxia: an overview
Martin B Delatycki, Robert Williamson, Susan M Forrest

Journal of Medical Genetics Jan 2000, 37 (1) 1-8; DOI: 10.1136/jmg.37.1.1
Clinical, biochemical and metabolic characterisation of a mild form of human short-chain enoyl-CoA hydratase deficiency: significance of increased N-acetyl-S-(2-carboxypropyl)cysteine excretion
Kenichiro Yamada, Kaori Aiba, Yasuyuki Kitaura, Yusuke Kondo, Noriko Nomura, Yuji Nakamura, Daisuke Fukushi, Kei Murayama, Yoshiharu Shimomura, James Pitt, Seiji Yamaguchi, Kenji Yokochi, Nobuaki Wakamatsu

Journal of Medical Genetics Oct 2015, 52 (10) 691-698; DOI: 10.1136/jmedgenet-2015-103231
ABCC8 and KCNJ11 molecular spectrum of 109 patients with diazoxide-unresponsive congenital hyperinsulinism
C Bellanné-Chantelot, C Saint-Martin, M-J Ribeiro, C Vaury, V Verkarre, J-B Arnoux, V Valayannopoulos, S Gobrecht, C Sempoux, J Rahier, J-C Fournet, F Jaubert, Y Aigrain, C Nihoul-Fékété, P de Lonlay

Journal of Medical Genetics Nov 2010, 47 (11) 752-759; DOI: 10.1136/jmg.2009.075416
KCNT1 mutations in seizure disorders: the phenotypic spectrum and functional effects
Chiao Xin Lim, Michael G Ricos, Leanne M Dibbens, Sarah E Heron

Journal of Medical Genetics Apr 2016, 53 (4) 217-225; DOI: 10.1136/jmedgenet-2015-103508
Phenotype difference between ALS patients with expanded repeats in C9ORF72 and patients with mutations in other ALS-related genes
Stéphanie Millecamps, Séverine Boillée, Isabelle Le Ber, Danielle Seilhean, Elisa Teyssou, Marine Giraudeau, Carine Moigneu, Nadia Vandenberghe, Véronique Danel-Brunaud, Philippe Corcia, Pierre-François Pradat, Nadine Le Forestier, Lucette Lacomblez, Gaelle Bruneteau, William Camu, Alexis Brice, Cécile Cazeneuve, Eric LeGuern, Vincent Meininger, François Salachas

Journal of Medical Genetics Apr 2012, 49 (4) 258-263; DOI: 10.1136/jmedgenet-2011-100699
Mutation analysis of NPHP6/CEP290 in patients with Joubert syndrome and Senior–Løken syndrome
Juliana Helou, Edgar A Otto, Massimo Attanasio, Susan J Allen, Melissa A Parisi, Ian Glass, Boris Utsch, Seema Hashmi, Elisa Fazzi, Heymut Omran, John F O’Toole, John A Sayer, Friedhelm Hildebrandt

Journal of Medical Genetics Oct 2007, 44 (10) 657-663; DOI: 10.1136/jmg.2007.052027
Rare genetic variants in Tunisian Jewish patients suffering from age-related macular degeneration
Eran Pras, Dana Kristal, Nadav Shoshany, Dina Volodarsky, Inna Vulih, Gershon Celniker, Ofer Isakov, Noam Shomron, Elon Pras

Journal of Medical Genetics Jul 2015, 52 (7) 484-492; DOI: 10.1136/jmedgenet-2015-103130
Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders
S Ben-Shachar, B Lanpher, J R German, M Qasaymeh, L Potocki, S C Sreenath Nagamani, L M Franco, A Malphrus, G W Bottenfield, J E Spence, S Amato, J A Rousseau, B Moghaddam, C Skinner, S A Skinner, S Bernes, N Armstrong, M Shinawi, P Stankiewicz, A Patel, S-W Cheung, J R Lupski, A L Beaudet, T Sahoo

Journal of Medical Genetics Jun 2009, 46 (6) 382-388; DOI: 10.1136/jmg.2008.064378

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