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

Original article:
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

Original article:
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
Short report:
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
Original article:
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

Original article:
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