Journal of Medical Genetics: 50 (9)

Host defence

Original article:
New and recurrent gain-of-function STAT1 mutations in patients with chronic mucocutaneous candidiasis from Eastern and Central Europe
(24 May, 2013)
Beáta Soltész, Beáta Tóth, Nadejda Shabashova, Anastasia Bondarenko, Satoshi Okada, Sophie Cypowyj, Avinash Abhyankar, Gabriella Csorba, Szilvia Taskó, Adrien Katalin Sarkadi, Leonóra Méhes, Pavel Rozsíval, David Neumann, Liudmyla Chernyshova, Zsolt Tulassay, Anne Puel, Jean-Laurent Casanova, Anna Sediva, Jiri Litzman, László Maródi

Original article:
Whole exome sequencing identifies FGF16 nonsense mutations as the cause of X-linked recessive metacarpal 4/5 fusion
(24 May, 2013)
Aleksander Jamsheer, Tomasz Zemojtel, Mateusz Kolanczyk, Sigmar Stricker, Jochen Hecht, Peter Krawitz, Sandra C Doelken, Renata Glazar, Magdalena Socha, Stefan Mundlos

Original article:
FGFR1 mutations cause Hartsfield syndrome, the unique association of holoprosencephaly and ectrodactyly
(28 June, 2013)
Nicolas Simonis, Isabelle Migeotte, Nelle Lambert, Camille Perazzolo, Deepthi C de Silva, Boyan Dimitrov, Claudine Heinrichs, Sandra Janssens, Bronwyn Kerr, Geert Mortier, Guy Van Vliet, Philippe Lepage, Georges Casimir, Marc Abramowicz, Guillaume Smits, Catheline Vilain

Original article:
Associations of common variants in HFE and TMPRSS6 with iron parameters are independent of serum hepcidin in a general population: a replication study
(21 June, 2013)
Tessel E Galesloot, Anneke J Geurts-Moespot, Martin den Heijer, Fred C G J Sweep, Robert E Fleming, Lambertus A L M Kiemeney, Sita H Vermeulen, Dorine W Swinkels
Original article: Genome-wide association study identifies ephrin type A receptors implicated in paclitaxel induced peripheral sensory neuropathy (17 June, 2013)
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

Original article: Targeted sequence capture and GS-FLX Titanium sequencing of 23 hypertrophic and dilated cardiomyopathy genes: implementation into diagnostics (19 June, 2013)
Olaf R F Mook, Martin A Haagmans, Jean-François Soucy, Judith B A van de Meerakker, Frank Baas, Marja E Jakobs, Nynke Hofman, Imke Christiaans, Ronald H Lekanne Deprez, Marcel M A M Mannens

Original article: Advancing genetic testing for deafness with genomic technology (26 June, 2013)
A Eliot Shearer, E Ann Black-Ziegelbein, Michael S Hildebrand, Robert W Eppsteiner, Harini Ravi, Swati Joshi, Angelica C Guiffre, Christina M Sloan, Scott Happe, Susanna D Howard, Barbara Novak, Adam P DeLuca, Kyle R Taylor, Todd E Scheetz, Terry A Braun, Thomas L Casavant, William J Kimberling, Emily M LeProust, Richard J H Smith
Original article: Comparison of the clinical scoring systems in Silver–Russell syndrome and development of modified diagnostic criteria to guide molecular genetic testing (28 June, 2013) Free
Renuka P Dias, Peter Nightingale, Carol Hardy, Gail Kirby, Louise Tee, Susan Price, Fiona MacDonald, Timothy G Barrett, Eamonn R Maher