Collagen transport and related pathways in Osteogenesis Imperfecta Lauria ClaeysSilvia StoroniDimitra Micha Review Open access 24 June 2021 Pages: 1121 - 1141
Pathogenic STX3 variants affecting the retinal and intestinal transcripts cause an early-onset severe retinal dystrophy in microvillus inclusion disease subjects Andreas R. JaneckeXiaoqin LiuRoger Janz Original Investigation Open access 11 May 2021 Pages: 1143 - 1156
Biallelic mutations in l-dopachrome tautomerase (DCT) cause infantile nystagmus and oculocutaneous albinism Alexander E. VolkAndrea HedergottChristian Kubisch Original Investigation 06 May 2021 Pages: 1157 - 1168
Variants in GCNA, X-linked germ-cell genome integrity gene, identified in men with primary spermatogenic failure Jimmaline J. HardyMargot J. WyrwollGEMINI Consortium Original Investigation 07 May 2021 Pages: 1169 - 1182
Whole-genome sequencing identifies functional noncoding variation in SEMA3C that cosegregates with dyslexia in a multigenerational family Amaia Carrion-CastilloSara B. EstruchSimon E. Fisher Original Investigation Open access 02 June 2021 Pages: 1183 - 1200
Characterization of intermediate-sized insertions using whole-genome sequencing data and analysis of their functional impact on gene expression Saeideh AshouriJing Hao WongAkihiro Fujimoto Original Investigation 12 May 2021 Pages: 1201 - 1216
Genotype imputation in case-only studies of gene-environment interaction: validity and power Milda Aleknonytė-ReschSilke SzymczakMichael Krawczak Original Investigation Open access 26 May 2021 Pages: 1217 - 1228
Genome sequencing in families with congenital limb malformations Jonas ElsnerMartin A. MensahMalte Spielmann Original Investigation Open access 22 June 2021 Pages: 1229 - 1239
Chromosomal translocations inactivating CDKN2A support a single path for malignant peripheral nerve sheath tumor initiation Miriam Magallón-LorenzJuana Fernández-RodríguezBernat Gel Original Investigation 31 May 2021 Pages: 1241 - 1252
Phenome-wide screening of GWAS data reveals the complex causal architecture of obesity Luis M. García-MarínAdrián I. CamposMiguel E. Rentería Original Investigation 31 May 2021 Pages: 1253 - 1265