The molecular genetic basis of atrial fibrillation Xin HuangYuhui LiGuowei Li Review 02 July 2020 Pages: 1485 - 1498
A novel variant in GPAA1, encoding a GPI transamidase complex protein, causes inherited vascular anomalies with various phenotypes Yongyun LiLiu YangRenbing Jia Original Investigation 12 June 2020 Pages: 1499 - 1511
The necdin interactome: evaluating the effects of amino acid substitutions and cell stress using proximity-dependent biotinylation (BioID) and mass spectrometry Matthea R. SandersonKatherine E. BadiorRachel Wevrick Original Investigation 11 June 2020 Pages: 1513 - 1529
Study of telomere length in men who carry a fragile X premutation or full mutation allele Igor AlbizuaPankaj ChopraStephanie L. Sherman Original Investigation 12 June 2020 Pages: 1531 - 1539
The cataract-linked RNA-binding protein Celf1 post-transcriptionally controls the spatiotemporal expression of the key homeodomain transcription factors Pax6 and Prox1 in lens development Sandeep AryalJustine VietSalil A. Lachke Original Investigation 27 June 2020 Pages: 1541 - 1554
Complex chromosomal rearrangements of human chromosome 21 in a patient manifesting clinical features partially overlapped with that of Down syndrome Taichi ImaizumiKeiko Yamamoto-ShimojimaToshiyuki Yamamoto Original Investigation 13 June 2020 Pages: 1555 - 1563
Novel loss-of-function mutations in COCH cause autosomal recessive nonsyndromic hearing loss Kevin T. BoothAmama GhaffarSaima Riazuddin Original Investigation 19 June 2020 Pages: 1565 - 1574
Severe DNM1 encephalopathy with dysmyelination due to recurrent splice site pathogenic variant Ahmed N. SahlyEric KrochmalnekKenneth A. Myers Letter to the Editor 09 September 2020 Pages: 1575 - 1578