Ways of improving precise knock-in by genome-editing technologies Svetlana A. SmirnikhinaArina A. AnuchinaAlexander V. Lavrov Review 02 November 2018 Pages: 1 - 19
Delineation of LZTR1 mutation-positive patients with Noonan syndrome and identification of LZTR1 binding to RAF1–PPP1CB complexes Ikumi UmekiTetsuya NiihoriYoko Aoki Original Investigation 27 October 2018 Pages: 21 - 35
Genetic association and differential expression of PITX2 with acute appendicitis Ekaterina OrlovaAndrew YehMichael J. Morowitz Original Investigation Open access 03 November 2018 Pages: 37 - 47
The contribution of parent-to-offspring transmission of telomeres to the heritability of telomere length in humans Dayana A. DelgadoChenan ZhangBrandon L. Pierce Original Investigation 10 December 2018 Pages: 49 - 60
De novo and inherited loss-of-function variants of ATP2B2 are associated with rapidly progressive hearing impairment Jeroen J. SmitsJaap OostrikHannie Kremer Original Investigation Open access 08 December 2018 Pages: 61 - 72
Ultra-deep amplicon sequencing indicates absence of low-grade mosaicism with normal cells in patients with type-1 NF1 deletions Anna SummererEleonora SchäferHildegard Kehrer-Sawatzki Original Investigation 26 November 2018 Pages: 73 - 81
Whole-exome sequencing reveals SALL4 variants in premature ovarian insufficiency: an update on genotype–phenotype correlations Qiqi WangDa LiFeng Zhang Original Investigation 02 January 2019 Pages: 83 - 92
Downregulation of genes outside the deleted region in individuals with 22q11.2 deletion syndrome Anelisa Gollo DantasMarcos Leite SantoroMaria Isabel Melaragno Original Investigation 09 January 2019 Pages: 93 - 103
A novel ISLR2-linked autosomal recessive syndrome of congenital hydrocephalus, arthrogryposis and abdominal distension Anas M. AlazamiSateesh MaddirevulaFowzan S. Alkuraya Short Communication 27 November 2018 Pages: 105 - 107
