Analysis of 200 unrelated individuals with a constitutional NF1 deep intronic pathogenic variant reveals that variants flanking the alternatively spliced NF1 exon 31 [23a] cause a classical neurofibromatosis type 1 phenotype while altering predominantly NF1 isoform type II Magdalena KoczkowskaYunjia ChenLudwine M. Messiaen Original Investigation Open access 25 April 2023 Pages: 849 - 861
Gene-based association study reveals a distinct female genetic signal in primary hypertension Roei ZuckerMichael KovalerchikMichal Linial Original Investigation 03 May 2023 Pages: 863 - 878
Deficiency of the mitochondrial ribosomal subunit, MRPL50, causes autosomal recessive syndromic premature ovarian insufficiency Shabnam BakhshalizadehDaniella H. HockElena J. Tucker Original Investigation Open access 06 May 2023 Pages: 879 - 907
Genotype–phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder Gianluca D’OnofrioAndrea AccogliVanja Nagy Original Investigation Open access 14 May 2023 Pages: 909 - 925
Proteomic profiling of retina and retinal pigment epithelium combined embryonic tissue to facilitate ocular disease gene discovery Sandeep AryalDeepti AnandSalil A. Lachke Original Investigation 16 May 2023 Pages: 927 - 947
De novo MCM6 variants in neurodevelopmental disorders: a recognizable phenotype related to zinc binding residues Daphne J. SmitsRachel SchotGrazia M. S. Mancini Original Investigation Open access 17 May 2023 Pages: 949 - 964
Sex differences of the shared genetic landscapes between type 2 diabetes and peripheral artery disease in East Asians and Europeans Zhiya LuHaoyang ZhangHuiying Zhao Original Investigation 21 June 2023 Pages: 965 - 980
Regulating cancer risk prediction: legal considerations and stakeholder perspectives on the Canadian context Palmira Granados MorenoTerese KnoppersYann Joly Original Investigation Open access 26 June 2023 Pages: 981 - 994
Correction: 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 Correction Open access 04 July 2023 Pages: 995 - 995