Trypsinogen (PRSS1 and PRSS2) gene dosage correlates with pancreatitis risk across genetic and transgenic studies: a systematic review and re-analysis Wen-Bin ZouDavid N. CooperJian-Min Chen Review 28 January 2022 Pages: 1327 - 1338
Biallelic DNAH9 mutations are identified in Chinese patients with defective left–right patterning and cilia-related complex congenital heart disease Weicheng ChenYuan ZhangXiangyu Zhou Original Investigation 20 January 2022 Pages: 1339 - 1353
Biochemical analysis of novel NAA10 variants suggests distinct pathogenic mechanisms involving impaired protein N-terminal acetylation Nina McTiernanLisbeth TranebjærgThomas Arnesen Original Investigation Open access 17 January 2022 Pages: 1355 - 1369
Case series of congenital pseudarthrosis of the tibia unfulfilling neurofibromatosis type 1 diagnosis: 21% with somatic NF1 haploinsufficiency in the periosteum Yu ZhengGuanghui ZhuZhengmao Hu Original Investigation 13 January 2022 Pages: 1371 - 1383
BMP3 is a novel locus involved in the causality of ocular coloboma Sabrina C. FoxSonya A. WidenAndrew J. Waskiewicz Original Investigation 28 January 2022 Pages: 1385 - 1407
Analysis of histone variant constraint and tissue expression suggests five potential novel human disease genes: H2AFY2, H2AFZ, H2AFY, H2AFV, H1F0 Emily LubinLaura BryantElizabeth Bhoj Original Investigation 24 January 2022 Pages: 1409 - 1421
C18orf32 loss-of-function is associated with a neurodevelopmental disorder with hypotonia and contractures Smrithi SalianXin-Yu GuoPhilippe M. Campeau Original Investigation 02 February 2022 Pages: 1423 - 1429
An effector index to predict target genes at GWAS loci Vincenzo ForgettaLai JiangJ. Brent Richards Original Investigation 11 February 2022 Pages: 1431 - 1447
