1. Overview of PAX gene family: analysis of human tissue-specific variant expression and involvement in human disease

   • Brian Thompson
   • Emily A. Davidson
   • Vasilis Vasiliou

   Review 29 July 2020 Pages: 381 - 400

   

2. Genetics and phenotypic heterogeneity of Dent disease: the dark side of the moon

   • Lisa Gianesello
   • Dorella Del Prete
   • Lorenzo A. Calò

   Review Open access 29 August 2020 Pages: 401 - 421

   

3. Genomic, transcriptomic, and protein landscape profile of CFTR and cystic fibrosis

   • Morgan Sanders
   • James M. J. Lawlor
   • Jeremy W. Prokop

   Original Investigation 30 July 2020 Pages: 423 - 439

   

4. The shared genetic architecture of schizophrenia, bipolar disorder and lifespan

   • Gerard Muntané
   • Xavier Farré
   • Elisabet Vilella

   Original Investigation 09 August 2020 Pages: 441 - 455

   

5. Systematic identification of genetic systems associated with phenotypes in patients with rare genomic copy number variations

   • F. M. Jabato
   • Pedro Seoane
   • Juan A. G. Ranea

   Original Investigation 10 August 2020 Pages: 457 - 475

   

6. Resolving misalignment interference for NGS-based clinical diagnostics

   • Che-yu Lee
   • Hai-Yun Yen
   • Hanlin Gao

   Original Investigation 11 September 2020 Pages: 477 - 492

   

7. Beyond medically actionable results: an analytical pipeline for decreasing the burden of returning all clinically significant secondary findings

   • Emma Reble
   • Mariana Gutierrez Salazar
   • Yvonne Bombard

   Original Investigation 06 September 2020 Pages: 493 - 504

   

8. Genome-wide landscape establishes novel association signals for metabolic traits in the Arab population

   • Prashantha Hebbar
   • Jehad Ahmed Abubaker
   • Thangavel Alphonse Thanaraj

   Original Investigation Open access 09 September 2020 Pages: 505 - 528

   

9. Genetic analysis of endometriosis and depression identifies shared loci and implicates causal links with gastric mucosa abnormality

   • Emmanuel O. Adewuyi
   • Divya Mehta
   • Dale R. Nyholt

   Original Investigation 21 September 2020 Pages: 529 - 552

   

10. A study of normal copy number variations in Israeli population

    • Idit Maya
    • Pola Smirin-Yosef
    • Mali Salmon-Divon

    Original Investigation 27 September 2020 Pages: 553 - 563