Journal of Medical Genetics: 51 (4)

Review

Normal and aberrant splicing of LMNA
(23 January, 2014)
Yue-Bei Luo, Frank L Mastaglia, Steve D Wilton

Original article: Genome-wide DNA methylation analysis of patients with imprinting disorders identifies differentially methylated regions associated with novel candidate imprinted genes (5 February, 2014)
Louise E Docherty, Faisal I Rezwan, Rebecca L Poole, Hannah Jagoe, Hannah Lake, Gabrielle A Lockett, Hasan Arshad, David I Wilson, John W Holloway, I Karen Temple, Deborah J G Mackay

Truncating mutations in TAF4B and ZMYND15 causing recessive azoospermia
(15 January, 2014) Free
Özgecan Ayhan, Mahmut Balkan, Ayse Guven, Renin Hazan, Murat Atar, Atalay Tok, Aslıhan Tolun

Functional analysis of MSH2 unclassified variants found in suspected Lynch syndrome patients reveals pathogenicity due to attenuated mismatch repair
(5 February, 2014)
Eva AL Wielders, Jan Hettinger, Rob Dekker, C Marleen Kets, Marjolijn J Ligtenberg, Arjen R Mensenkamp, Ans MW van den Ouweland, Judith Prins, Anja Wagner, Winand NM Dinjens, Hendrikus Jan Dubbink, Liselotte P van Hest, Fred Menko, Frans Hogervorst, Senno Verhoef, Hein te Riele

Original article: A novel immunodeficiency syndrome associated with partial trisomy 19p13 (15 January, 2014)
Markus G Seidel, Celia Duerr, Stavroula Woutsas, Anette Schwerin-Nagel, Kambis Sadeghi, Jürgen Neesen, Sabine Uhrig, Elisangela Santos-Valente, Winfried F Pickl, Wolfgang Schwinger, Christian Urban, Kaan Boztug, Elisabeth Förster-Waldl
Next generation sequencing of chromosomal rearrangements in patients with split-hand/split-foot malformation provides evidence for DYNC1I1 exonic enhancers of DLX5/6 expression in humans
(23 January, 2014)
Hana Lango Allen, Richard Caswell, Weijia Xie, Xiao Xu, Christopher Wragg, Peter D Turnpenny, Claire L S Turner, Michael N Weedon, Sian Ellard

Short report: Conotruncal malformations and absent thymus due to a deleterious NKX2-6 mutation (13 January, 2014)
Asaf Ta-Shma, Nael El-lahham, Simon Edvardson, Polina Stepensky, Amiram Nir, Zeev Perles, Sagui Gavri, Julius Golender, Nurit Yaakobi-Simhayoff, Avraham Shaag, Azaria J J T Rein, Orly Elpeleg
A syndrome of congenital hyperinsulinism and rhabdomyolysis is caused by KCNJ11 mutation
(13 January, 2014)
Mamdouh Albaqumi, Fatimah A Alhabib, Hanan E Shamseldin, Firdous Mohammed, Fowzan S Alkuraya

POMK mutation in a family with congenital muscular dystrophy with merosin deficiency, hypomyelination, mild hearing deficit and intellectual disability
(20 February, 2014)
Anja von Renesse, Mina V Petkova, Susanne Lützkendorf, Jan Heinemeyer, Esther Gill, Christoph Hübner, Arpad von Moers, Werner Stenzel, Markus Schuelke