The clinical utility of polygenic risk scores in genomic medicine practices: a systematic review Judit KumuthiniBrittany ZickMarc Abramowicz Review Open access 30 April 2022 Pages: 1697 - 1704
Evolutionary history of type II transmembrane serine proteases involved in viral priming Diego ForniManuela SironiRachele Cagliani Original Investigation 05 February 2022 Pages: 1705 - 1722
Usher syndrome type IV: clinically and molecularly confirmed by novel ARSG variants Hedwig M. VeldeJanine ReurinkRonald J. E. Pennings Original Investigation Open access 28 February 2022 Pages: 1723 - 1738
Uterine fibroid polygenic risk score (PRS) associates and predicts risk for uterine fibroid Jacqueline A. PiekosJacklyn N. HellwegeDigna R. Velez Edwards Original Investigation 28 February 2022 Pages: 1739 - 1748
Predicting genes from phenotypes using human phenotype ontology (HPO) terms Anne SlavotinekHannah PrasadMark Kvale Original Investigation 31 March 2022 Pages: 1749 - 1760
Genetic genealogy uncovers a founder deletion mutation in the cerebral cavernous malformations 2 gene Carol J. GallioneMatthew R. DetterDouglas A. Marchuk Original Investigation 30 April 2022 Pages: 1761 - 1769
Monogenic causes of pigmentary mosaicism Ken SaidaPin Fee ChongNaomichi Matsumoto Original Investigation 03 May 2022 Pages: 1771 - 1784
Transmission ratio distortion of mutations in the master regulator of centriole biogenesis PLK4 Heidemarie NeitzelRaymonda VaronKarl Sperling Original Investigation Open access 10 May 2022 Pages: 1785 - 1794
Homozygous missense mutation in CCDC155 disrupts the transmembrane distribution of CCDC155 and SUN1, resulting in non-obstructive azoospermia and premature ovarian insufficiency in humans Huan WuXin ZhangMingxi Liu Original Investigation 19 May 2022 Pages: 1795 - 1809