ATR-X syndrome: genetics, clinical spectrum, and management Nayla Y. LeónVincent R. Harley Review 15 September 2021 Pages: 1625 - 1634
Classification of NF1 microdeletions and its importance for establishing genotype/phenotype correlations in patients with NF1 microdeletions Hildegard Kehrer-SawatzkiDavid N. Cooper Review Open access 18 September 2021 Pages: 1635 - 1649
Novel loci and Mapuche genetic ancestry are associated with pubertal growth traits in Chilean boys Lucas VicuñaTomás NorambuenaSusana Eyheramendy Original Investigation Open access 28 May 2021 Pages: 1651 - 1661
Correction to: Novel loci and mapuche genetic ancestry are associated with pubertal growth traits in Chilean boys Lucas VicuñaTomás NorambuenaSusana Eyheramendy Correction 03 August 2021 Pages: 1663 - 1663
NGS and phenotypic ontology-based approaches increase the diagnostic yield in syndromic retinal diseases I. Perea-RomeroF. Blanco-KellyC. Ayuso Original Investigation Open access 26 August 2021 Pages: 1665 - 1678
Biallelic variants in YRDC cause a developmental disorder with progeroid features Julia SchmidtJonas GoergensBernd Wollnik Original Investigation Open access 20 September 2021 Pages: 1679 - 1693
Patient and public preferences for being recontacted with updated genomic results: a mixed methods study Chloe MightonMarc ClausenYvonne Bombard Original Investigation 18 September 2021 Pages: 1695 - 1708
TUBB3 Arg262His causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathy Mary C. WhitmanBrenda J. BarryElizabeth C. Engle Original Investigation 15 October 2021 Pages: 1709 - 1731
A recessive variant in TFAM causes mtDNA depletion associated with primary ovarian insufficiency, seizures, intellectual disability and hearing loss Farid UllahWaqar RaufErica E. Davis Original Investigation 13 October 2021 Pages: 1733 - 1751
The population genetics characteristics of a 90 locus panel of microhaplotypes Andrew J. PakstisNeeru GandotraKenneth K. Kidd Original Investigation Open access 13 October 2021 Pages: 1753 - 1773
WDR37 syndrome: identification of a distinct new cluster of disease-associated variants and functional analyses of mutant proteins Elena A. SorokinaLinda M. ReisElena V. Semina Original Investigation 12 October 2021 Pages: 1775 - 1789