The Human Gene Mutation Database (HGMD®): optimizing its use in a clinical diagnostic or research setting Peter D. StensonMatthew MortDavid N. Cooper Review Open access 28 June 2020 Pages: 1197 - 1207
CPAMD8 loss-of-function underlies non-dominant congenital glaucoma with variable anterior segment dysgenesis and abnormal extracellular matrix Juan-Manuel Bonet-FernándezJosé-Daniel Aroca-AguilarJulio Escribano Original Investigation 09 April 2020 Pages: 1209 - 1231
Systematic microsatellite repeat expansion cloning and validation Kushal J. RohillaKaty N. OvingtonKeith T. Gagnon Original Investigation 10 April 2020 Pages: 1233 - 1246
AP1S1 missense mutations cause a congenital enteropathy via an epithelial barrier defect Katharina M. C. KleeAndreas R. JaneckeGeorg F. Vogel Original Investigation Open access 18 April 2020 Pages: 1247 - 1259
Evidence for craniofacial enhancer variation underlying nonsyndromic cleft lip and palate Vershanna E. MorrisS. Shahrukh HashmiAriadne Letra Original Investigation 21 April 2020 Pages: 1261 - 1272
An exome-first approach to aid in the diagnosis of primary ciliary dyskinesia Hanan E. ShamseldinIbrahim Al MogarriFowzan S. Alkuraya Original Investigation 04 May 2020 Pages: 1273 - 1283
SZDB2.0: an updated comprehensive resource for schizophrenia research Yong WuXiaoyan LiYong-Gang Yao Original Investigation 08 May 2020 Pages: 1285 - 1297
Somatic mutations in planar cell polarity genes in neural tissue from human fetuses with neural tube defects Tian TianYunping LeiAiguo Ren Original Investigation 30 April 2020 Pages: 1299 - 1314
A comparative analysis of genetic hearing loss phenotypes in European/American and Japanese populations W. Daniel WallsHideaki MotekiThomas L. Casavant Original Investigation 07 May 2020 Pages: 1315 - 1323
Genomic sequencing highlights the diverse molecular causes of Perrault syndrome: a peroxisomal disorder (PEX6), metabolic disorders (CLPP, GGPS1), and mtDNA maintenance/translation disorders (LARS2, TFAM) Elena J. TuckerRocio RiusAndrew H. Sinclair Original Investigation 12 May 2020 Pages: 1325 - 1343