Genotype imputation for Han Chinese population using Haplotype Reference Consortium as reference Yuan LinLu LiuXianyong Yin Original Investigation 31 May 2018 Pages: 431 - 436
A dominant variant in the PDE1C gene is associated with nonsyndromic hearing loss Li WangYong FengXuezhong Liu Original Investigation 02 June 2018 Pages: 437 - 446
IFT88 mutations identified in individuals with non-syndromic recessive retinal degeneration result in abnormal ciliogenesis Anil ChekuriAditya A. GuruRadha Ayyagari Original Investigation 05 July 2018 Pages: 447 - 458
De novo variants in GREB1L are associated with non-syndromic inner ear malformations and deafness Isabelle SchrauwenElina KariRick A. Friedman Original Investigation 28 June 2018 Pages: 459 - 470
A variant in LMX1A causes autosomal recessive severe-to-profound hearing impairment Isabelle SchrauwenImen ChakchoukSuzanne M. Leal Original Investigation 03 July 2018 Pages: 471 - 478
MPZL2 is a novel gene associated with autosomal recessive nonsyndromic moderate hearing loss Guney BademciClemer AbadMustafa Tekin Original Investigation 07 July 2018 Pages: 479 - 486
A genome scan for genes underlying adult body size differences between Central African hunter-gatherers and farmers Trevor J. PembertonPaul VerduEvelyne Heyer Original Investigation 14 July 2018 Pages: 487 - 509
Extreme clustering of type-1 NF1 deletion breakpoints co-locating with G-quadruplex forming sequences Anna SummererVictor-Felix MautnerHildegard Kehrer-Sawatzki Original Investigation 10 July 2018 Pages: 511 - 520
Integrated analysis of human genetic association study and mouse transcriptome suggests LBH and SHF genes as novel susceptible genes for amyloid-β accumulation in Alzheimer’s disease Yumi Yamaguchi-KabataTakashi MoriharaTatsuhiko Tsunoda Original Investigation Open access 13 July 2018 Pages: 521 - 533
Admixture mapping and fine-mapping of birth weight loci in the Black Women’s Health Study Heather M. Ochs-BalcomHolly ShawEdward A. Ruiz-Narváez Original Investigation 13 July 2018 Pages: 535 - 542
Phenotypic and genotypic overlap between mosaic NF2 and schwannomatosis in patients with multiple non-intradermal schwannomas Hildegard Kehrer-SawatzkiLan KluweVictor-Felix Mautner Original Investigation 13 July 2018 Pages: 543 - 552
The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease Jiaqi LiuYangzhong ZhouNan Wu Original Investigation 17 July 2018 Pages: 553 - 567
