1. 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 Koczkowska
   • Yunjia Chen
   • Ludwine M. Messiaen

   Original Investigation Open access 25 April 2023 Pages: 849 - 861

   

2. Gene-based association study reveals a distinct female genetic signal in primary hypertension

   • Roei Zucker
   • Michael Kovalerchik
   • Michal Linial

   Original Investigation 03 May 2023 Pages: 863 - 878

   

3. Deficiency of the mitochondrial ribosomal subunit, MRPL50, causes autosomal recessive syndromic premature ovarian insufficiency

   • Shabnam Bakhshalizadeh
   • Daniella H. Hock
   • Elena J. Tucker

   Original Investigation Open access 06 May 2023 Pages: 879 - 907

   

4. Genotype–phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder

   • Gianluca D’Onofrio
   • Andrea Accogli
   • Vanja Nagy

   Original Investigation Open access 14 May 2023 Pages: 909 - 925

   

5. Proteomic profiling of retina and retinal pigment epithelium combined embryonic tissue to facilitate ocular disease gene discovery

   • Sandeep Aryal
   • Deepti Anand
   • Salil A. Lachke

   Original Investigation 16 May 2023 Pages: 927 - 947

   

6. De novo MCM6 variants in neurodevelopmental disorders: a recognizable phenotype related to zinc binding residues

   • Daphne J. Smits
   • Rachel Schot
   • Grazia M. S. Mancini

   Original Investigation Open access 17 May 2023 Pages: 949 - 964

   

7. Sex differences of the shared genetic landscapes between type 2 diabetes and peripheral artery disease in East Asians and Europeans

   • Zhiya Lu
   • Haoyang Zhang
   • Huiying Zhao

   Original Investigation 21 June 2023 Pages: 965 - 980

   

8. Regulating cancer risk prediction: legal considerations and stakeholder perspectives on the Canadian context

   • Palmira Granados Moreno
   • Terese Knoppers
   • Yann Joly

   Original Investigation Open access 26 June 2023 Pages: 981 - 994

9. Correction: VIsoQLR: an interactive tool for the detection, quantification and fine-tuning of isoforms in selected genes using long-read sequencing

   • Gonzalo Núñez-Moreno
   • Alejandra Tamayo
   • Pablo Mínguez

   Correction Open access 04 July 2023 Pages: 995 - 995