1. Genotype imputation for Han Chinese population using Haplotype Reference Consortium as reference

   • Yuan Lin
   • Lu Liu
   • Xianyong Yin

   Original Investigation 31 May 2018 Pages: 431 - 436

   

2. A dominant variant in the PDE1C gene is associated with nonsyndromic hearing loss

   • Li Wang
   • Yong Feng
   • Xuezhong Liu

   Original Investigation 02 June 2018 Pages: 437 - 446

   

3. IFT88 mutations identified in individuals with non-syndromic recessive retinal degeneration result in abnormal ciliogenesis

   • Anil Chekuri
   • Aditya A. Guru
   • Radha Ayyagari

   Original Investigation 05 July 2018 Pages: 447 - 458

   

4. De novo variants in GREB1L are associated with non-syndromic inner ear malformations and deafness

   • Isabelle Schrauwen
   • Elina Kari
   • Rick A. Friedman

   Original Investigation 28 June 2018 Pages: 459 - 470

   

5. A variant in LMX1A causes autosomal recessive severe-to-profound hearing impairment

   • Isabelle Schrauwen
   • Imen Chakchouk
   • Suzanne M. Leal

   Original Investigation 03 July 2018 Pages: 471 - 478

   

6. MPZL2 is a novel gene associated with autosomal recessive nonsyndromic moderate hearing loss

   • Guney Bademci
   • Clemer Abad
   • Mustafa Tekin

   Original Investigation 07 July 2018 Pages: 479 - 486

   

7. A genome scan for genes underlying adult body size differences between Central African hunter-gatherers and farmers

   • Trevor J. Pemberton
   • Paul Verdu
   • Evelyne Heyer

   Original Investigation 14 July 2018 Pages: 487 - 509

   

8. Extreme clustering of type-1 NF1 deletion breakpoints co-locating with G-quadruplex forming sequences

   • Anna Summerer
   • Victor-Felix Mautner
   • Hildegard Kehrer-Sawatzki

   Original Investigation 10 July 2018 Pages: 511 - 520

   

9. 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-Kabata
   • Takashi Morihara
   • Tatsuhiko Tsunoda

   Original Investigation Open access 13 July 2018 Pages: 521 - 533

   

10. Admixture mapping and fine-mapping of birth weight loci in the Black Women’s Health Study

    • Heather M. Ochs-Balcom
    • Holly Shaw
    • Edward A. Ruiz-Narváez

    Original Investigation 13 July 2018 Pages: 535 - 542

    

11. Phenotypic and genotypic overlap between mosaic NF2 and schwannomatosis in patients with multiple non-intradermal schwannomas

    • Hildegard Kehrer-Sawatzki
    • Lan Kluwe
    • Victor-Felix Mautner

    Original Investigation 13 July 2018 Pages: 543 - 552

    

12. 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 Liu
    • Yangzhong Zhou
    • Nan Wu

    Original Investigation 17 July 2018 Pages: 553 - 567