Volume 142, Issue 6 | Human Genetics

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Volume 142, Issue 6

June 2023

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10 articles in this issue

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 Hunt
Christopher Allan Samson
Hilary M. Sheppard
Review Open access 24 April 2023 Pages: 705 - 720
SNV/indel hypermutator phenotype in biallelic RAD51C variant: Fanconi anemia
Roni Zemet
Haowei Du
Paweł Stankiewicz
Original Investigation 09 April 2023 Pages: 721 - 733
ADGB variants cause asthenozoospermia and male infertility
Ronggui Qu
Zhihua Zhang
Yanping Kuang
Original Investigation 30 March 2023 Pages: 735 - 748
Predicting ExWAS findings from GWAS data: a shorter path to causal genes
Kevin Y. H. Liang
Yossi Farjoun
J. 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 He
Lu-Ting Luo
Wei-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 Lecoquierre
Olivier Quenez
Gaël 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 Leone
Silvia Morlino
Marco 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 Dang
Meng Song
Xiong-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. Tollefson
Rose A. Gogal
Michael 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 Huang
Fang Fu
Can Liao
Original Investigation 24 April 2023 Pages: 835 - 847