Unintended CRISPR-Cas9 editing outcomes: a review of the detection and prevalence of structural variants generated by gene-editing in human cells John Murray Topp HuntChristopher Allan SamsonHilary M. Sheppard Review Open access 24 April 2023 Pages: 705 - 720
SNV/indel hypermutator phenotype in biallelic RAD51C variant: Fanconi anemia Roni ZemetHaowei DuPaweł Stankiewicz Original Investigation 09 April 2023 Pages: 721 - 733
ADGB variants cause asthenozoospermia and male infertility Ronggui QuZhihua ZhangYanping Kuang Original Investigation 30 March 2023 Pages: 735 - 748
Predicting ExWAS findings from GWAS data: a shorter path to causal genes Kevin Y. H. LiangYossi FarjounJ. Brent Richards Original Investigation 02 April 2023 Pages: 749 - 758
Clinical and genome-wide association analysis of chemoradiation-induced hearing loss in nasopharyngeal carcinoma Yong-Qiao HeLu-Ting LuoWei-Hua Jia Original Investigation Open access 16 April 2023 Pages: 759 - 772
High diagnostic potential of short and long read genome sequencing with transcriptome analysis in exome-negative developmental disorders François LecoquierreOlivier QuenezGaël Nicolas Original Investigation 19 April 2023 Pages: 773 - 783
Specifications and validation of the ACMG/AMP criteria for clinical interpretation of sequence variants in collagen genes associated with joint hypermobility Maria Pia LeoneSilvia MorlinoMarco Castori Original Investigation 20 April 2023 Pages: 785 - 808
Proteome-wide Mendelian randomization reveals the causal effects of immune-related plasma proteins on psychiatric disorders Xinglun DangMeng SongXiong-Jian Luo Original Investigation 21 April 2023 Pages: 809 - 818
Assessing variants of uncertain significance implicated in hearing loss using a comprehensive deafness proteome Mallory R. TollefsonRose A. GogalMichael J. Schnieders Original Investigation Open access 22 April 2023 Pages: 819 - 834
Prenatal diagnosis in the fetal hyperechogenic kidneys: assessment using chromosomal microarray analysis and exome sequencing Ruibin HuangFang FuCan Liao Original Investigation 24 April 2023 Pages: 835 - 847