CLINICAL

Deficiency of HTRA2/Omi is associated with infantile neurodegeneration and 3-methylglutaconic aciduria
Hanna Mandel, Shotaro Saita, Simon Edvardson, Chaim Jalas, Avraham Shaag, Dorit Goldsher, Euvgeni Vlodavsky, Thomas Langer, Orly Elpeleg

Journal of Medical Genetics Oct 2016, 53 (10) 690-696; DOI: 10.1136/jmedgenet-2016-103922
Mutations in LTBP3 cause acromicric dysplasia and geleophysic dysplasia
Aideen M McInerney-Leo, Carine Le Goff, Paul J Leo, Tony J Kenna, Patricia Keith, Jessica E Harris, Ruth Steer, Christine Bole-Feysot, Patrick Nitschke, Cay Kielty, Matthew A Brown, Andreas Zankl, Emma L Duncan, Valerie Cormier-Daire

Journal of Medical Genetics Jul 2016, 53 (7) 457-464; DOI: 10.1136/jmedgenet-2015-103647
Local genotype influences DNA methylation at two asthma-associated regions, 5q31 and 17q21, in a founder effect population
Abeer Al Tuwaijri, Valérie Gagné-Ouellet, Anne-Marie Madore, Catherine Laprise, Anna K Naumova

Journal of Medical Genetics Apr 2016, 53 (4) 232-241; DOI: 10.1136/jmedgenet-2015-103313
Mutation in cytochrome b gene of mitochondrial DNA in a family with fibromyalgia is associated with NLRP3-inflammasome activation
Mario D Cordero, Elísabet Alcocer-Gómez, Fabiola Marín-Aguilar, Tatyana Rybkina, David Cotán, Antonio Pérez-Pulido, José Miguel Alvarez-Suarez, Maurizio Battino, José Antonio Sánchez-Alcazar, Angel M Carrión, Ognjen Culic, José M Navarro-Pando, Pedro Bullón

Journal of Medical Genetics Feb 2016, 53 (2) 113-122; DOI: 10.1136/jmedgenet-2015-103392
Phenotypic expansion and further characterisation of the 17q21.31 microdeletion syndrome
T Y Tan, S Aftimos, L Worgan, R Susman, M Wilson, S Ghedia, E P Kirk, D Love, A Ronan, A Darmanian, A Slavotinek, J Hogue, J B Moeschler, J Ozmore, R Widmer, R Savarirayan, G Peters

Journal of Medical Genetics Jul 2009, 46 (7) 480-489; DOI: 10.1136/jmg.2008.065391
The ALX4 homeobox gene is mutated in patients with ossification defects of the skull (foramina parietalia permagna, OMIM 168500)
Wim Wuyts, Erna Cleiren, Tessa Homfray, Alberto Rasore-Quartino, Filip Vanhoenacker, Wim Van Hul

Journal of Medical Genetics Dec 2000, 37 (12) 916-920; DOI: 10.1136/jmg.37.12.916
Genome-wide association study identifies ephrin type A receptors implicated in paclitaxel induced peripheral sensory neuropathy
Luis J Leandro-García, Lucía Inglada-Pérez, Guillermo Pita, Elisabet Hjerpe, Susanna Leskelä, Carlos Jara, Xabier Mielgo, Anna González-Neira, Mercedes Robledo, Elisabeth Åvall-Lundqvist, Henrik Gréen, Cristina Rodríguez-Antona

Journal of Medical Genetics Sep 2013, 50 (9) 599-605; DOI: 10.1136/jmedgenet-2012-101466
Mutation of HERC2 causes developmental delay with Angelman-like features
Gaurav V Harlalka, Emma L Baple, Harold Cross, Simone Kühnle, Monica Cubillos-Rojas, Konstantin Matentzoglu, Michael A Patton, Karin Wagner, Roselyn Coblentz, Debra L Ford, Deborah J G Mackay, Barry A Chioza, Martin Scheffner, Jose Luis Rosa, Andrew H Crosby

Journal of Medical Genetics Feb 2013, 50 (2) 65-73; DOI: 10.1136/jmedgenet-2012-101367
CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene
M C J Jongmans, R J Admiraal, K P van der Donk, L E L M Vissers, A F Baas, L Kapusta, J M van Hagen, D Donnai, T J de Ravel, J A Veltman, A Geurts van Kessel, B B A De Vries, H G Brunner, L H Hoefsloot, C M A van Ravenswaaij

Journal of Medical Genetics Apr 2006, 43 (4) 306-314; DOI: 10.1136/jmg.2005.036061
A novel desmin mutation leading to autosomal recessive limb-girdle muscular dystrophy: distinct histopathological outcomes compared with desminopathies
Nilgun Cetin, Burcu Balci-Hayta, Hulya Gundesli, Petek Korkusuz, Nuhan Purali, Beril Talim, Ersin Tan, Duygu Selcen, Sevim Erdem-Ozdamar, Pervin Dincer

Journal of Medical Genetics Jul 2013, 50 (7) 437-443; DOI: 10.1136/jmedgenet-2012-101487

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