Population history modulates the fitness effects of Copy Number Variation in the Roma Marco AntinucciDavid ComasFrancesc Calafell Original Investigation Open access 14 June 2023 Pages: 1327 - 1343
Genomic characterisation of the overlap of endometriosis with 76 comorbidities identifies pleiotropic and causal mechanisms underlying disease risk Isabelle M. McGrathInternational Endometriosis Genetics ConsortiumSally Mortlock Original Investigation Open access 06 July 2023 Pages: 1345 - 1360
Exonic mutations in cell–cell adhesion may contribute to CADASIL-related CSVD pathology Paul J. DunnRodney A. LeaLyn R. Griffiths Original Investigation Open access 08 July 2023 Pages: 1361 - 1373
Long-read sequencing reveals the complex structure of extra dic(21;21) chromosome and its biological effects Kugui Yoshida-TanakaKo IkemotoAkihiro Fujimoto Original Investigation Open access 11 July 2023 Pages: 1375 - 1384
Prospective phenotyping of CHAMP1 disorder indicates that coding mutations may not act through haploinsufficiency Tess LevyThariana PichardoJoseph D. Buxbaum Original Investigation Open access 16 July 2023 Pages: 1385 - 1394
Investigating the tissue specificity and prognostic impact of cis-regulatory cancer risk variants Ajay SubramanianShengqin SuMichael Sargent Binkley Original Investigation 20 July 2023 Pages: 1395 - 1405
Genomics and inclusion of Indigenous peoples in high income countries Kylie GwynneShirley JiangTom Calma Original Investigation Open access 21 July 2023 Pages: 1407 - 1416
Inactivating TDP2 missense mutation in siblings with congenital abnormalities reminiscent of fanconi anemia Guido Zagnoli-VieiraJan BrazinaHilde Van Esch Original Investigation Open access 10 August 2023 Pages: 1417 - 1427