KIR and HLA under pressure: evidences of coevolution across worldwide populations Danillo G. AugustoMaria Luiza Petzl-Erler Review Paper 23 June 2015 Pages: 929 - 940
Mutation of ATF6 causes autosomal recessive achromatopsia Muhammad AnsarRegie Lyn P. Santos-CortezSuzanne M. Leal Original Investigation Open access 11 June 2015 Pages: 941 - 950
Yeast model analysis of novel polymerase gamma variants found in patients with autosomal recessive mitochondrial disease Magdalena KaliszewskaJakub KruszewskiKatarzyna Tońska Original Investigation Open access 16 June 2015 Pages: 951 - 966
High diagnostic yield of clinical exome sequencing in Middle Eastern patients with Mendelian disorders Tarunashree YavarnaNader Al-DewikTawfeg Ben-Omran Original Investigation 16 June 2015 Pages: 967 - 980
Whole-exome sequencing identifies novel ECHS1 mutations in Leigh syndrome Martine TetreaultSomayyeh FahiminiyaJacek Majewski Original Investigation 23 June 2015 Pages: 981 - 991
Neuronal SH-SY5Y cells use the C-dystrophin promoter coupled with exon 78 skipping and display multiple patterns of alternative splicing including two intronic insertion events Atsushi NishidaMaki MinegishiMasafumi Matsuo Original Investigation 08 July 2015 Pages: 993 - 1001
Compound heterozygous NOTCH1 mutations underlie impaired cardiogenesis in a patient with hypoplastic left heart syndrome Jeanne L. TheisSybil C. L. HrstkaTimothy M. Olson Original Investigation 12 July 2015 Pages: 1003 - 1011
Mosaic maternal ancestry in the Great Lakes region of East Africa Verónica GomesMaria PalaMartin B. Richards Original Investigation 19 July 2015 Pages: 1013 - 1027
Revisiting disease genes based on whole-exome sequencing in consanguineous populations Ahmed ShamiaRanad ShaheenFowzan S. Alkuraya Short Report 04 July 2015 Pages: 1029 - 1034
Louanne Hudgins, Helga V. Toriello, Gregory M. Enns and H. Eugene Hoyme (eds): Signs and Symptoms of Genetic Conditions, a Handbook Ian Tully Book Review 26 July 2015 Pages: 1035 - 1035
