Finding the sweet spot: a qualitative study exploring patients’ acceptability of chatbots in genetic service delivery Stephanie LucaMarc Clausenthe Genetics Navigator Study Team Original Investigation 11 January 2023 Pages: 321 - 330
From collected stamps to hair locks: ethical and legal implications of testing DNA found on privately owned family artifacts Kyle McKibbinMahsa ShabaniMaarten H. D. Larmuseau Original Investigation 01 December 2022 Pages: 331 - 341
Integrated exome and transcriptome analysis prioritizes MAP4K4 de novo frameshift variants in autism spectrum disorder as a novel disease–gene association M. CesanaL. VaccaroD. Cacchiarelli Original Investigation Open access 05 December 2022 Pages: 343 - 350
Targeting de novo loss-of-function variants in constrained disease genes improves diagnostic rates in the 100,000 Genomes Project Eleanor G. SeabyN. Simon ThomasSarah Ennis Original Investigation Open access 07 December 2022 Pages: 351 - 362
Mate-pair genome sequencing reveals structural variants for idiopathic male infertility Zirui DongJicheng QianKwong Wai Choy Original Investigation 16 December 2022 Pages: 363 - 377
CLEC16A interacts with retromer and TRIM27, and its loss impairs endosomal trafficking and neurodevelopment Daphne J. SmitsJordy DekkerGrazia M. S. Mancini Original Investigation Open access 20 December 2022 Pages: 379 - 397
KIF26A is mutated in the syndrome of congenital hydrocephalus with megacolon Mohammed AlmannaiLama AlAbdiFowzan S Alkuraya Original Investigation 23 December 2022 Pages: 399 - 405
Whole exome sequencing improves genetic diagnosis of fetal clubfoot Ruibin HuangHang ZhouCan Liao Original Investigation 25 December 2022 Pages: 407 - 418
Quantitative assessment of low-level parental mosaicism of SNVs and CNVs in Waardenburg syndrome Xiaohong LiShasha HuangPu Dai Original Investigation 28 December 2022 Pages: 419 - 430
Investigating the shared genetic architecture and causal relationship between pain and neuropsychiatric disorders Mengya ChenSi LiXingjie Hao Original Investigation 29 November 2022 Pages: 431 - 443
Target-allele-specific probe single-base extension (TASP-SBE): a novel MALDI–TOF–MS strategy for multi-variants analysis and its application in simultaneous detection of α-/β-thalassemia mutations Qiong ChenXuexi YangWanjun Zhou Original Investigation 19 January 2023 Pages: 445 - 456
A tapt1 knock-out zebrafish line with aberrant lens development and impaired vision models human early-onset cataract Tamara JaraysehBrecht GuillemynAndy Willaert Original Investigation 25 January 2023 Pages: 457 - 476
