PRSS8, encoding prostasin, is mutated in patients with autosomal recessive ichthyosis Hanan E. ShamseldinNada DerarFowzan S. Alkuraya Original Investigation 30 January 2023 Pages: 477 - 482
Rare structural variants, aneuploidies, and mosaicism in individuals with Mullerian aplasia detected by optical genome mapping Soumia BraktaZoe A. HawkinsLawrence C. Layman Original Investigation 17 February 2023 Pages: 483 - 494
VIsoQLR: an interactive tool for the detection, quantification and fine-tuning of isoforms in selected genes using long-read sequencing Gonzalo Núñez-MorenoAlejandra TamayoPablo Mínguez Original Investigation Open access 07 March 2023 Pages: 495 - 506
Genome-wide analysis of genetic pleiotropy and causal genes across three age-related ocular disorders Xueming YaoHongxi YangHua Yan Original Investigation 14 March 2023 Pages: 507 - 522
CRELD1 variants are associated with bicuspid aortic valve in Turner syndrome Catherina T. PinnaroChloe B. BeckBenjamin W. Darbro Original Investigation Open access 16 March 2023 Pages: 523 - 530
Loss of SUN1 function in spermatocytes disrupts the attachment of telomeres to the nuclear envelope and contributes to non-obstructive azoospermia in humans Qingxia MengBinbin ShaoTingting Gao Original Investigation 18 March 2023 Pages: 531 - 541
Homozygous loss-of-function variants in FILIP1 cause autosomal recessive arthrogryposis multiplex congenita with microcephaly Franziska SchnabelElisabeth SchulerGökhan Yigit Original Investigation Open access 21 March 2023 Pages: 543 - 552
Great expectations: patients’ preferences for clinically significant results from genomic sequencing Salma ShickhAgnes Sebastianthe Incidental Genomics Team members to be indexed in PubMed Original Investigation 21 March 2023 Pages: 553 - 562
Using comprehensive genomic and functional analyses for resolving genotype–phenotype mismatches in children with suspected CMMRD in Lebanon: an IRRDC study Dima HamidehAnirban DasThe International Replication Repair Deficiency Consortium (IRRDC) Original Article 15 February 2023 Pages: 563 - 576
Biallelic CLCN2 mutations cause retinal degeneration by impairing retinal pigment epithelium phagocytosis and chloride channel function Ping XuZhuolin ChenXiufeng Zhong Original Article 25 March 2023 Pages: 577 - 593