Towards systematic nomenclature for cell-free DNA Abel J. BronkhorstVida UngererAlain R. Thierry Review Open access 29 October 2020 Pages: 565 - 578
Biallelic loss-of-function variants in NEMF cause central nervous system impairment and axonal polyneuropathy Ashfaque AhmedMeng WangZhengmao Hu Original Investigation 13 October 2020 Pages: 579 - 592
A CRISPR and high-content imaging assay compliant with ACMG/AMP guidelines for clinical variant interpretation in ciliopathies Liliya NazlamovaN. Simon ThomasGabrielle Wheway Original Investigation Open access 23 October 2020 Pages: 593 - 607
Systematic analysis to identify transcriptome-wide dysregulation of Alzheimer’s disease in genes and isoforms Cong FanKen ChenHuiying Zhao Original Investigation 02 November 2020 Pages: 609 - 623
Chiari 1 malformation and exome sequencing in 51 trios: the emerging role of rare missense variants in chromatin-remodeling genes Aldesia ProvenzanoAndrea La BarberaSabrina Giglio Original Investigation Open access 18 December 2020 Pages: 625 - 647
A missense allele of PEX5 is responsible for the defective import of PTS2 cargo proteins into peroxisomes Muhammad AliShahid Y. KhanS. Amer Riazuddin Original Investigation 02 January 2021 Pages: 649 - 666
Genetics of agenesis/hypoplasia of the uterus and vagina: narrowing down the number of candidate genes for Mayer–Rokitansky–Küster–Hauser Syndrome Sasha MikhaelSonal DugarLawrence C. Layman Original Investigation 19 January 2021 Pages: 667 - 680
5q35 duplication presents with psychiatric and undergrowth phenotypes mediated by NSD1 overexpression and mTOR signaling downregulation Fabiola Quintero-RiveraCeleste C. EnoJulian A. Martinez-Agosto Original Investigation 03 January 2021 Pages: 681 - 690
Concerns regarding the potentially causal role of FANCA heterozygous variants in human primary ovarian insufficiency Abdelkader HeddarMicheline Misrahi Letter to the Editor 05 November 2020 Pages: 691 - 694
“Response to the letter to the editor “Concerns regarding the potentially causal role of FANCA heterozygous variants in human primary ovarian insufficiency”” Xi YangFeng ZhangYanhua Wu Letter to the Editor 11 November 2020 Pages: 695 - 697
Correction to: Shared genetic architecture between metabolic traits and Alzheimer’s disease: a large-scale genome-wide cross-trait analysis Zhaozhong ZhuYifei LinLiming Liang Correction 10 November 2020 Pages: 699 - 699
