Decoding a highly mixed Kazakh genome Madina SeidualyAsta BlazyteJong Bhak Original Investigation Open access 19 February 2020 Pages: 557 - 568
Determining the incidence of rare diseases Matthew N. Bainbridge Original Investigation 13 February 2020 Pages: 569 - 574
Delineation of phenotypes and genotypes related to cohesin structural protein RAD21 Lianne C. KrabIñigo Marcos-AlcaldeRaoul C. Hennekam Original Investigation Open access 19 March 2020 Pages: 575 - 592
A large population-based investigation into the genetics of susceptibility to gastrointestinal infections and the link between gastrointestinal infections and mental illness Ron NudelVivek AppaduraiMichael E. Benros Original Investigation Open access 09 March 2020 Pages: 593 - 604
A genomics approach to females with infertility and recurrent pregnancy loss Sateesh MaddirevulaKhalid AwartaniFowzan S. Alkuraya Original Investigation 14 March 2020 Pages: 605 - 613
CNP deficiency causes severe hypomyelinating leukodystrophy in humans Lama Al-AbdiFathiya Al MurshediFowzan S. Alkuraya Original Investigation 03 March 2020 Pages: 615 - 622
Ethnogeographic and inter-individual variability of human ABC transporters Qingyang XiaoYitian ZhouVolker M. Lauschke Original Investigation Open access 23 March 2020 Pages: 623 - 646
A population-based approach for gene prioritization in understanding complex traits Massimo MezzavillaMassimiliano CoccaPaolo Gasparini Original Investigation 30 March 2020 Pages: 647 - 655
The pharmacological chaperone N-n-butyl-deoxygalactonojirimycin enhances β-galactosidase processing and activity in fibroblasts of a patient with infantile GM1-gangliosidosis Fedah E. MohamedMohammad Al SorkhyBassam R. Ali Original Investigation 26 March 2020 Pages: 657 - 673
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 LiedeSirpa SoiniTom Southerington Letter to the Editor 27 February 2020 Pages: 675 - 677
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