1. The Human Gene Mutation Database (HGMD^®): optimizing its use in a clinical diagnostic or research setting

   • Peter D. Stenson
   • Matthew Mort
   • David N. Cooper

   Review Open access 28 June 2020 Pages: 1197 - 1207

   

2. CPAMD8 loss-of-function underlies non-dominant congenital glaucoma with variable anterior segment dysgenesis and abnormal extracellular matrix

   • Juan-Manuel Bonet-Fernández
   • José-Daniel Aroca-Aguilar
   • Julio Escribano

   Original Investigation 09 April 2020 Pages: 1209 - 1231

   

3. Systematic microsatellite repeat expansion cloning and validation

   • Kushal J. Rohilla
   • Katy N. Ovington
   • Keith T. Gagnon

   Original Investigation 10 April 2020 Pages: 1233 - 1246

   

4. AP1S1 missense mutations cause a congenital enteropathy via an epithelial barrier defect

   • Katharina M. C. Klee
   • Andreas R. Janecke
   • Georg F. Vogel

   Original Investigation Open access 18 April 2020 Pages: 1247 - 1259

   

5. Evidence for craniofacial enhancer variation underlying nonsyndromic cleft lip and palate

   • Vershanna E. Morris
   • S. Shahrukh Hashmi
   • Ariadne Letra

   Original Investigation 21 April 2020 Pages: 1261 - 1272

   

6. An exome-first approach to aid in the diagnosis of primary ciliary dyskinesia

   • Hanan E. Shamseldin
   • Ibrahim Al Mogarri
   • Fowzan S. Alkuraya

   Original Investigation 04 May 2020 Pages: 1273 - 1283

   

7. SZDB2.0: an updated comprehensive resource for schizophrenia research

   • Yong Wu
   • Xiaoyan Li
   • Yong-Gang Yao

   Original Investigation 08 May 2020 Pages: 1285 - 1297

   

8. Somatic mutations in planar cell polarity genes in neural tissue from human fetuses with neural tube defects

   • Tian Tian
   • Yunping Lei
   • Aiguo Ren

   Original Investigation 30 April 2020 Pages: 1299 - 1314

   

9. A comparative analysis of genetic hearing loss phenotypes in European/American and Japanese populations

   • W. Daniel Walls
   • Hideaki Moteki
   • Thomas L. Casavant

   Original Investigation 07 May 2020 Pages: 1315 - 1323

   

10. 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. Tucker
    • Rocio Rius
    • Andrew H. Sinclair

    Original Investigation 12 May 2020 Pages: 1325 - 1343