Delving into the complexity of hereditary spastic paraplegias: how unexpected phenotypes and inheritance modes are revolutionizing their nosology Christelle TessonJeanette KohtGiovanni Stevanin Review Paper Open access 11 March 2015 Pages: 511 - 538
Heritability and genome-wide analyses of problematic peer relationships during childhood and adolescence Beate St PourcainC. M. A. HaworthGeorge Davey Smith Original Investigation Open access 17 December 2014 Pages: 539 - 551
Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin–Siris and Nicolaides–Baraitser syndromes Nuria C. BramswigHermann-Josef LüdeckeDagmar Wieczorek Original Investigation 28 February 2015 Pages: 553 - 568
Replicated linear association between DUF1220 copy number and severity of social impairment in autism J. M. DavisV. B. Searles QuickJ. M. Sikela Original Investigation 11 March 2015 Pages: 569 - 575
Homozygous MED25 mutation implicated in eye–intellectual disability syndrome Lina Basel-VanagaitePola Smirin-YosefDoron M. Behar Original Investigation 20 March 2015 Pages: 577 - 587
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 WangPeiqiang SuYiming Wang Original Investigation 20 March 2015 Pages: 589 - 603
Analysis of human upstream open reading frames and impact on gene expression Yuhua YeYidan LiangXiangmin Xu Original Investigation 24 March 2015 Pages: 605 - 612
Characterization of 14 novel deletions underlying Rubinstein–Taybi syndrome: an update of the CREBBP deletion repertoire Daniela RusconiGloria NegriCristina Gervasini Original Investigation 25 March 2015 Pages: 613 - 626
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 TurpeinenIlkka SeppäläMarko Pesu Original Investigation 27 March 2015 Pages: 627 - 636
West Eurasian mtDNA lineages in India: an insight into the spread of the Dravidian language and the origins of the caste system Malliya Gounder PalanichamyBikash MitraYa-Ping Zhang Original Investigation 02 April 2015 Pages: 637 - 647
Genomic analysis identifies candidate pathogenic variants in 9 of 18 patients with unexplained West syndrome Naomi Hino-FukuyoAtsuo KikuchiShigeo Kure Original Investigation 16 April 2015 Pages: 649 - 658
Prevalence estimation for monogenic autosomal recessive diseases using population-based genetic data Steven J. SchrodiAndrea DeBarberRobert D. Steiner Original Investigation 19 April 2015 Pages: 659 - 669
Exome sequencing reveals homozygous TRIM2 mutation in a patient with early onset CMT and bilateral vocal cord paralysis Davut PehlivanZeynep Coban AkdemirTamar Harel Short Report 17 April 2015 Pages: 671 - 673
Ian MacFarlane, Patricia McCarthy Veach, Bonnie S. LeRoy: Genetic counseling research: a practical guide Marion McAllister Book Review 15 March 2015 Pages: 675 - 676
Erratum to: Differential positive selection of malaria resistance genes in three indigenous populations of Peninsular Malaysia Xuanyao LiuYushimah YunusBoon‑Peng Hoh Erratum 18 March 2015 Pages: 677 - 677