1. Finding the sweet spot: a qualitative study exploring patients’ acceptability of chatbots in genetic service delivery

   • Stephanie Luca
   • Marc Clausen
   • the Genetics Navigator Study Team

   Original Investigation 11 January 2023 Pages: 321 - 330

2. From collected stamps to hair locks: ethical and legal implications of testing DNA found on privately owned family artifacts

   • Kyle McKibbin
   • Mahsa Shabani
   • Maarten H. D. Larmuseau

   Original Investigation 01 December 2022 Pages: 331 - 341

3. Integrated exome and transcriptome analysis prioritizes MAP4K4 de novo frameshift variants in autism spectrum disorder as a novel disease–gene association

   • M. Cesana
   • L. Vaccaro
   • D. Cacchiarelli

   Original Investigation Open access 05 December 2022 Pages: 343 - 350

   

4. Targeting de novo loss-of-function variants in constrained disease genes improves diagnostic rates in the 100,000 Genomes Project

   • Eleanor G. Seaby
   • N. Simon Thomas
   • Sarah Ennis

   Original Investigation Open access 07 December 2022 Pages: 351 - 362

   

5. Mate-pair genome sequencing reveals structural variants for idiopathic male infertility

   • Zirui Dong
   • Jicheng Qian
   • Kwong Wai Choy

   Original Investigation 16 December 2022 Pages: 363 - 377

   

6. CLEC16A interacts with retromer and TRIM27, and its loss impairs endosomal trafficking and neurodevelopment

   • Daphne J. Smits
   • Jordy Dekker
   • Grazia M. S. Mancini

   Original Investigation Open access 20 December 2022 Pages: 379 - 397

   

7. KIF26A is mutated in the syndrome of congenital hydrocephalus with megacolon

   • Mohammed Almannai
   • Lama AlAbdi
   • Fowzan S Alkuraya

   Original Investigation 23 December 2022 Pages: 399 - 405

   

8. Whole exome sequencing improves genetic diagnosis of fetal clubfoot

   • Ruibin Huang
   • Hang Zhou
   • Can Liao

   Original Investigation 25 December 2022 Pages: 407 - 418

   

9. Quantitative assessment of low-level parental mosaicism of SNVs and CNVs in Waardenburg syndrome

   • Xiaohong Li
   • Shasha Huang
   • Pu Dai

   Original Investigation 28 December 2022 Pages: 419 - 430

   

10. Investigating the shared genetic architecture and causal relationship between pain and neuropsychiatric disorders

    • Mengya Chen
    • Si Li
    • Xingjie Hao

    Original Investigation 29 November 2022 Pages: 431 - 443

    

11. 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 Chen
    • Xuexi Yang
    • Wanjun Zhou

    Original Investigation 19 January 2023 Pages: 445 - 456

    

12. A tapt1 knock-out zebrafish line with aberrant lens development and impaired vision models human early-onset cataract

    • Tamara Jarayseh
    • Brecht Guillemyn
    • Andy Willaert

    Original Investigation 25 January 2023 Pages: 457 - 476