1. Delving into the complexity of hereditary spastic paraplegias: how unexpected phenotypes and inheritance modes are revolutionizing their nosology

   • Christelle Tesson
   • Jeanette Koht
   • Giovanni Stevanin

   Review Paper Open access 11 March 2015 Pages: 511 - 538

   

2. Heritability and genome-wide analyses of problematic peer relationships during childhood and adolescence

   • Beate St Pourcain
   • C. M. A. Haworth
   • George Davey Smith

   Original Investigation Open access 17 December 2014 Pages: 539 - 551

   

3. Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin–Siris and Nicolaides–Baraitser syndromes

   • Nuria C. Bramswig
   • Hermann-Josef Lüdecke
   • Dagmar Wieczorek

   Original Investigation 28 February 2015 Pages: 553 - 568

   

4. Replicated linear association between DUF1220 copy number and severity of social impairment in autism

   • J. M. Davis
   • V. B. Searles Quick
   • J. M. Sikela

   Original Investigation 11 March 2015 Pages: 569 - 575

5. Homozygous MED25 mutation implicated in eye–intellectual disability syndrome

   • Lina Basel-Vanagaite
   • Pola Smirin-Yosef
   • Doron M. Behar

   Original Investigation 20 March 2015 Pages: 577 - 587

   

6. Characterization of 26 deletion CNVs reveals the frequent occurrence of micro-mutations within the breakpoint-flanking regions and frequent repair of double-strand breaks by templated insertions derived from remote genomic regions

   • Ye Wang
   • Peiqiang Su
   • Yiming Wang

   Original Investigation 20 March 2015 Pages: 589 - 603

   

7. Analysis of human upstream open reading frames and impact on gene expression

   • Yuhua Ye
   • Yidan Liang
   • Xiangmin Xu

   Original Investigation 24 March 2015 Pages: 605 - 612

   

8. Characterization of 14 novel deletions underlying Rubinstein–Taybi syndrome: an update of the CREBBP deletion repertoire

   • Daniela Rusconi
   • Gloria Negri
   • Cristina Gervasini

   Original Investigation 25 March 2015 Pages: 613 - 626

   

9. A genome-wide expression quantitative trait loci analysis of proprotein convertase subtilisin/kexin enzymes identifies a novel regulatory gene variant for FURIN expression and blood pressure

   • Hannu Turpeinen
   • Ilkka Seppälä
   • Marko Pesu

   Original Investigation 27 March 2015 Pages: 627 - 636

10. West Eurasian mtDNA lineages in India: an insight into the spread of the Dravidian language and the origins of the caste system

    • Malliya Gounder Palanichamy
    • Bikash Mitra
    • Ya-Ping Zhang

    Original Investigation 02 April 2015 Pages: 637 - 647

    

11. Genomic analysis identifies candidate pathogenic variants in 9 of 18 patients with unexplained West syndrome

    • Naomi Hino-Fukuyo
    • Atsuo Kikuchi
    • Shigeo Kure

    Original Investigation 16 April 2015 Pages: 649 - 658

    

12. Prevalence estimation for monogenic autosomal recessive diseases using population-based genetic data

    • Steven J. Schrodi
    • Andrea DeBarber
    • Robert D. Steiner

    Original Investigation 19 April 2015 Pages: 659 - 669

    

13. Exome sequencing reveals homozygous TRIM2 mutation in a patient with early onset CMT and bilateral vocal cord paralysis

    • Davut Pehlivan
    • Zeynep Coban Akdemir
    • Tamar Harel

    Short Report 17 April 2015 Pages: 671 - 673

    

14. Ian MacFarlane, Patricia McCarthy Veach, Bonnie S. LeRoy: Genetic counseling research: a practical guide

    • Marion McAllister

    Book Review 15 March 2015 Pages: 675 - 676

15. Erratum to: Differential positive selection of malaria resistance genes in three indigenous populations of Peninsular Malaysia

    • Xuanyao Liu
    • Yushimah Yunus
    • Boon‑Peng Hoh

    Erratum 18 March 2015 Pages: 677 - 677