Cell biology

Functionally distinct groups of inherited PTEN mutations in autism and tumour syndromes
Laura Spinelli, Fiona M Black, Jonathan N Berg, Britta J Eickholt, Nicholas R Leslie

Journal of Medical Genetics Feb 2015, 52 (2) 128-134; DOI: 10.1136/jmedgenet-2014-102803
Prenylation defects in inherited retinal diseases
Susanne Roosing, Rob W J Collin, Anneke I den Hollander, Frans P M Cremers, Anna M Siemiatkowska

Journal of Medical Genetics Mar 2014, 51 (3) 143-151; DOI: 10.1136/jmedgenet-2013-102138
Whole-exome sequencing identifies a mutation in the mitochondrial ribosome protein MRPL44 to underlie mitochondrial infantile cardiomyopathy
Christopher J Carroll, Pirjo Isohanni, Rosanna Pöyhönen, Liliya Euro, Uwe Richter, Virginia Brilhante, Alexandra Götz, Taina Lahtinen, Anders Paetau, Helena Pihko, Brendan J Battersby, Henna Tyynismaa, Anu Suomalainen

Journal of Medical Genetics Mar 2013, 50 (3) 151-159; DOI: 10.1136/jmedgenet-2012-101375
Pseudogene in cancer: real functions and promising signature
Lu Xiao-Jie, Gao Ai-Mei, Ji Li-Juan, Xu Jiang

Journal of Medical Genetics Jan 2015, 52 (1) 17-24; DOI: 10.1136/jmedgenet-2014-102785
Disruption of Golgi morphology and altered protein glycosylation in PLA2G6-associated neurodegeneration
Mariska Davids, Megan S Kane, Miao He, Lynne A Wolfe, Xueli Li, Mohd A Raihan, Katherine R Chao, William P Bone, Cornelius F Boerkoel, William A Gahl, Camilo Toro

Journal of Medical Genetics Mar 2016, 53 (3) 180-189; DOI: 10.1136/jmedgenet-2015-103338
Neurodevelopmental disorders associated with dosage imbalance of ZBTB20 correlate with the morbidity spectrum of ZBTB20 candidate target genes
Malene B Rasmussen, Jakob V Nielsen, Charles M Lourenço, Joana B Melo, Christina Halgren, Camila V L Geraldi, Wilson Marques, Guilherme R Rodrigues, Mads Thomassen, Mads Bak, Claus Hansen, Susana I Ferreira, Margarida Venâncio, Karen F Henriksen, Allan Lind-Thomsen, Isabel M Carreira, Niels A Jensen, Niels Tommerup

Journal of Medical Genetics Sep 2014, 51 (9) 605-613; DOI: 10.1136/jmedgenet-2014-102535
MKS1 regulates ciliary INPP5E levels in Joubert syndrome
Gisela G Slaats, Christine R Isabella, Hester Y Kroes, Jennifer C Dempsey, Hendrik Gremmels, Glen R Monroe, Ian G Phelps, Karen J Duran, Jonathan Adkins, Sairam A Kumar, Dana M Knutzen, Nine V Knoers, Nancy J Mendelsohn, David Neubauer, Sotiria D Mastroyianni, Julie Vogt, Lisa Worgan, Natalya Karp, Sarah Bowdin, Ian A Glass, Melissa A Parisi, Edgar A Otto, Colin A Johnson, Friedhelm Hildebrandt, Gijs van Haaften, Rachel H Giles, Dan Doherty

Journal of Medical Genetics Jan 2016, 53 (1) 62-72; DOI: 10.1136/jmedgenet-2015-103250
Cowden's syndrome with immunodeficiency
Michael J Browning, Anita Chandra, Valentina Carbonaro, Klaus Okkenhaug, Julian Barwell

Journal of Medical Genetics Dec 2015, 52 (12) 856-859; DOI: 10.1136/jmedgenet-2015-103266

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