Emerging genotype–phenotype relationships in patients with large NF1 deletions Hildegard Kehrer-SawatzkiVictor-Felix MautnerDavid N. Cooper Review Open access 17 February 2017 Pages: 349 - 376
Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features Jing ZhangTomasz GambinPaweł Stankiewicz Original Investigation 01 March 2017 Pages: 377 - 386
Confounding effects of microbiome on the susceptibility of TNFSF15 to Crohn’s disease in the Ryukyu Islands Shigeki NakagomeHiroshi ChinenHiroki Oota Original Investigation 14 February 2017 Pages: 387 - 397
Mutations in KIAA0753 cause Joubert syndrome associated with growth hormone deficiency Joshi StephenThierry VilbouxMeral Gunay-Aygun Original Investigation 20 February 2017 Pages: 399 - 408
Exome analysis of Smith–Magenis-like syndrome cohort identifies de novo likely pathogenic variants Seth I. BergerCarla CicconeAnn C. M. Smith Original Investigation 17 February 2017 Pages: 409 - 420
Genome-wide associations of CD46 and IFI44L genetic variants with neutralizing antibody response to measles vaccine Iana H. HaralambievaInna G. OvsyannikovaGregory A. Poland Original Investigation 13 March 2017 Pages: 421 - 435
Genetic differentiation between upland and lowland populations shapes the Y-chromosomal landscape of West Asia O. BalanovskyM. ChukhryaevaE. Balanovska Original Investigation 09 March 2017 Pages: 437 - 450
Integrative multi-omics analysis revealed SNP-lncRNA-mRNA (SLM) networks in human peripheral blood mononuclear cells Wei XiaXiao-Wei ZhuShu-Feng Lei Original Investigation 28 February 2017 Pages: 451 - 462
Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU Christel DepienneCaroline NavaCyril Mignot Original Investigation Open access 10 March 2017 Pages: 463 - 479
