1. Decoding a highly mixed Kazakh genome

   • Madina Seidualy
   • Asta Blazyte
   • Jong Bhak

   Original Investigation Open access 19 February 2020 Pages: 557 - 568

   

2. Determining the incidence of rare diseases

   • Matthew N. Bainbridge

   Original Investigation 13 February 2020 Pages: 569 - 574

3. Delineation of phenotypes and genotypes related to cohesin structural protein RAD21

   • Lianne C. Krab
   • Iñigo Marcos-Alcalde
   • Raoul C. Hennekam

   Original Investigation Open access 19 March 2020 Pages: 575 - 592

   

4. A large population-based investigation into the genetics of susceptibility to gastrointestinal infections and the link between gastrointestinal infections and mental illness

   • Ron Nudel
   • Vivek Appadurai
   • Michael E. Benros

   Original Investigation Open access 09 March 2020 Pages: 593 - 604

   

5. A genomics approach to females with infertility and recurrent pregnancy loss

   • Sateesh Maddirevula
   • Khalid Awartani
   • Fowzan S. Alkuraya

   Original Investigation 14 March 2020 Pages: 605 - 613

   

6. CNP deficiency causes severe hypomyelinating leukodystrophy in humans

   • Lama Al-Abdi
   • Fathiya Al Murshedi
   • Fowzan S. Alkuraya

   Original Investigation 03 March 2020 Pages: 615 - 622

   

7. Ethnogeographic and inter-individual variability of human ABC transporters

   • Qingyang Xiao
   • Yitian Zhou
   • Volker M. Lauschke

   Original Investigation Open access 23 March 2020 Pages: 623 - 646

   

8. A population-based approach for gene prioritization in understanding complex traits

   • Massimo Mezzavilla
   • Massimiliano Cocca
   • Paolo Gasparini

   Original Investigation 30 March 2020 Pages: 647 - 655

   

9. The pharmacological chaperone N-n-butyl-deoxygalactonojirimycin enhances β-galactosidase processing and activity in fibroblasts of a patient with infantile GM1-gangliosidosis

   • Fedah E. Mohamed
   • Mohammad Al Sorkhy
   • Bassam R. Ali

   Original Investigation 26 March 2020 Pages: 657 - 673

   

10. Comment on “Salokannel et al., Legacy samples in Finnish biobanks: social and legal issues related to the transfer of old sample collections into biobanks”

    • Sandra Liede
    • Sirpa Soini
    • Tom Southerington

    Letter to the Editor 27 February 2020 Pages: 675 - 677

11. Reply to: Comment on “Salokannel et al., legacy samples in Finnish biobanks: social and legal issues related to the transfer of old sample collections into biobanks”

    • Marjut Salokannel
    • Heta Tarkkala
    • Karoliina Snell

    Letter to the Editor 27 February 2020 Pages: 679 - 680