Articles

1. The natural history and genotype–phenotype correlations of TMPRSS3 hearing loss: an international, multi-center, cohort analysis

   • Brett M. Colbert
   • Cris Lanting
   • Xue Zhong Liu

   Original Investigation Open access 30 April 2024

   

2. Chromatinopathies – from discovery to clinical diagnosis in the real world

   • Bianca E. Russell
   • Wen-Hann Tan

   Editorial 26 April 2024

3. A novel network-based method identifies a cuproplasia-related pan-cancer gene signature to predict patient outcome

   • Vu Viet Hoang Pham
   • Toni Rose Jue
   • Orazio Vittorio

   Original Investigation Open access 20 April 2024

   

4. VARista: a free web platform for streamlined whole-genome variant analysis across T2T, hg38, and hg19

   • Noam Hadar
   • Vadim Dolgin
   • Ohad S. Birk

   Original Investigation 12 April 2024

   

5. Examination of the shared genetic architecture between multiple sclerosis and systemic lupus erythematosus facilitates discovery of novel lupus risk loci

   • Sophia Kerns
   • Katherine A. Owen
   • Peter E. Lipsky

   Original Investigation 12 April 2024

   

6. Loss-of-function variants affecting the STAGA complex component SUPT7L cause a developmental disorder with generalized lipodystrophy

   • Johannes Kopp
   • Leonard A. Koch
   • Björn Fischer-Zirnsak

   Original Investigation Open access 09 April 2024

   

7. Genotype-phenotype correlation in CLCN4-related developmental and epileptic encephalopathy

   • Ahmed N. Sahly
   • Juan Sierra-Marquez
   • Kenneth A. Myers

   Original Investigation 05 April 2024

   

8. Phenotypic and genetic effect of carotid intima-media thickness on the risk of stroke

   • Wenqiang Zhang
   • Jingwei Zhu
   • Ben Zhang

   Original Investigation 05 April 2024

   

9. Prioritizing genomic variants pathogenicity via DNA, RNA, and protein-level features based on extreme gradient boosting

   • Maolin Ding
   • Ken Chen
   • Huiying Zhao

   Original Investigation 04 April 2024

   

10. Variant effect predictors: a systematic review and practical guide

    • Cristian Riccio
    • Max L. Jansen
    • Andreas Ziegler

    Review Open access 04 April 2024

    

11. Semiautomated approach focused on new genomic information results in time and effort-efficient reannotation of negative exome data

    • Alejandro Ferrer
    • Patrick Duffy
    • Eric W. Klee

    Original Investigation 27 March 2024

    

12. Cross-ancestry genetic architecture and prediction for cholesterol traits

    • Md. Moksedul Momin
    • Xuan Zhou
    • S. Hong Lee

    Original Investigation 27 March 2024

    

13. Heterozygous loss-of-function variants in DOCK4 cause neurodevelopmental delay and microcephaly

    • Charlotte Herbst
    • Viktoria Bothe
    • Henry Oppermann

    Original Investigation Open access 25 March 2024 Pages: 455 - 469

    

14. The crucial prognostic signaling pathways of pancreatic ductal adenocarcinoma were identified by single-cell and bulk RNA sequencing data

    • Wenwen Wang
    • Guo Chen
    • Jielai Xia

    Original Investigation Open access 25 March 2024

    

15. Biallelic variants in GTF3C5, a regulator of RNA polymerase III-mediated transcription, cause a multisystem developmental disorder

    • Aiko Iwata-Otsubo
    • Cara M. Skraban
    • Kosuke Izumi

    Original Investigation 23 March 2024 Pages: 437 - 453

    

16. An AI-based approach driven by genotypes and phenotypes to uplift the diagnostic yield of genetic diseases

    • S. Zucca
    • G. Nicora
    • I. Limongelli

    Original Investigation Open access 23 March 2024

    

17. An overload of missense variants in the OTOG gene may drive a higher prevalence of familial Meniere disease in the European population

    • Alberto M. Parra-Perez
    • Alvaro Gallego-Martinez
    • Jose A. Lopez-Escamez

    Original Investigation Open access 22 March 2024 Pages: 423 - 435

    

18. The association between DNA methylation and human height and a prospective model of DNA methylation-based height prediction

    • Zhonghua Wang
    • Guangping Fu
    • Shujin Li

    Original Investigation 20 March 2024 Pages: 401 - 421

    

19. STRAS:a snakemake pipeline for genome-wide short tandem repeats annotation and score

    • Zhang Mengna

    Original Investigation 20 March 2024

20. Genetic evidence for T-wave area from 12-lead electrocardiograms to monitor cardiovascular diseases in patients taking diabetes medications

    • Mengling Qi
    • Haoyang Zhang
    • Huiying Zhao

    Original Investigation 20 March 2024

    

21. Genome-wide analyses reveal the regulatory roles of DNA methylation-regulated alternative promoter transcripts in breast cancer

    • Yingdong Song
    • Tao Shen
    • Xiangting Wang

    Original Investigation 19 March 2024 Pages: 385 - 399

    

22. A novel 193-plex MPS panel integrating STRs and SNPs highlights the application value of forensic genetics in individual identification and paternity testing

    • Xueyuan Liu
    • Chengliang Yang
    • Chao Liu

    Original Investigation 18 March 2024 Pages: 371 - 383

    

23. Integrative regulation of hLMR1 by dietary and genetic factors in nonalcoholic fatty liver disease and hyperlipidemia

    • Marcos E Jaso-Vera
    • Shohei Takaoka
    • Xiangbo Ruan

    Original Investigation 17 March 2024

    

24. Novel compound heterozygous variants in FANCI cause premature ovarian insufficiency

    • Lili Cao
    • Xinmiao He
    • Yajuan Yang

    Original Investigation 14 March 2024 Pages: 357 - 369

    

25. STEAP3 promotes colon cancer cell proliferation and migration via regulating histone acetylation

    • Jinjuan Lv
    • Xiaoqian Liu
    • Yunfei Zuo

    Original Investigation 13 March 2024 Pages: 343 - 355

    

26. PdmIRD: missense variants pathogenicity prediction for inherited retinal diseases in a disease-specific manner

    • Bing Zeng
    • Dong Cheng Liu
    • Bo Qin

    Original Investigation 13 March 2024 Pages: 331 - 342

    

27. PKHD1L1, a gene involved in the stereocilia coat, causes autosomal recessive nonsyndromic hearing loss

    • Shelby E. Redfield
    • Pedro De-la-Torre
    • Barbara Vona

    Original Investigation Open access 09 March 2024 Pages: 311 - 329

    

28. Trisomy silencing by XIST: translational prospects and challenges

    • Khusali Gupta
    • Jan T. Czerminski
    • Jeanne B. Lawrence

    Review Open access 09 March 2024

    

29. Clinical and genetic architecture of a large cohort with auditory neuropathy

    • Hongyang Wang
    • Liping Guan
    • Qiuju Wang

    Original Investigation Open access 08 March 2024 Pages: 293 - 309

    

30. Heterozygous MAP3K20 variants cause ectodermal dysplasia, craniosynostosis, sensorineural hearing loss, and limb anomalies

    • Daniel Brooks
    • Elizabeth Burke
    • Lindsay C. Burrage

    Original Investigation 07 March 2024 Pages: 279 - 291

    

31. Identification and functional analysis of rare HECTD1 missense variants in human neural tube defects

    • Elias Oxman
    • Huili Li
    • Irene E. Zohn

    Original Investigation Open access 07 March 2024 Pages: 263 - 277

    

32. Functional categorization of gene regulatory variants that cause Mendelian conditions

    • Y. H. Hank Cheng
    • Stephanie C. Bohaczuk
    • Andrew B. Stergachis

    Review Open access 04 March 2024

    

33. The relationship between extreme inter-individual variation in macrophage gene expression and genetic susceptibility to inflammatory bowel disease

    • Claire L. O’Brien
    • Kim M. Summers
    • Paul Pavli

    Original Investigation Open access 29 February 2024 Pages: 233 - 261

    

34. Novel genotype–phenotype correlations, differential cerebellar allele-specific methylation, and a common origin of the (ATTTC)_n insertion in spinocerebellar ataxia type 37

    • Marina Sanchez-Flores
    • Marc Corral-Juan
    • Antoni Matilla-Dueñas

    Original Investigation Open access 23 February 2024 Pages: 211 - 232

    

35. Bayesian network-based Mendelian randomization for variant prioritization and phenotypic causal inference

    • Jianle Sun
    • Jie Zhou
    • Yue Zhang

    Original Investigation 21 February 2024

    

36. Identification of TACSTD2 as novel therapeutic targets for cisplatin-induced acute kidney injury by multi-omics data integration

    • Zebin Deng
    • Zheng Dong
    • Fei Deng

    Original Investigation 18 February 2024

    

37. Mitochondrial genetic variation and risk of chronic kidney disease and acute kidney injury in UK Biobank participants

    • Vasantha Jotwani
    • Stephanie Y. Yang
    • Dan E. Arking

    Original Investigation Open access 13 February 2024 Pages: 151 - 157

38. Miscarriage risk assessment: a bioinformatic approach to identifying candidate lethal genes and variants

    • Mona Aminbeidokhti
    • Jia-Hua Qu
    • Aleksandar Rajkovic

    Original Investigation Open access 01 February 2024 Pages: 185 - 195

    

39. Whole exome sequencing and polygenic assessment of a Swedish cohort with severe developmental language disorder

    • Ashraf Yahia
    • Danyang Li
    • Kristiina Tammimies

    Original Investigation Open access 01 February 2024 Pages: 169 - 183

    

40. Screening copy number variations in 35 unsolved inherited retinal disease families

    • Xiaozhen Liu
    • Hehua Dai
    • Jing Hong

    Original Article Open access 29 January 2024 Pages: 197 - 210

    

41. The pivotal role of long non-coding RNAs as potential biomarkers and modulators of chemoresistance in ovarian cancer (OC)

    • Shika Hanif Malgundkar
    • Yahya Tamimi

    Review 26 January 2024 Pages: 107 - 124

    

42. Expansion of the complex genotypic and phenotypic spectrum of FGFR2-associated neurocutaneous syndromes

    • Julia Schmidt
    • Silke Kaulfuß
    • Bernd Wollnik

    Original Investigation Open access 24 January 2024 Pages: 159 - 168

    

43. Vitamin D-binding protein deficiency: an underrecognized Mendelian disorder of vitamin D metabolism

    • Zainab Al Masseri
    • Mashael Alqahtani
    • Fowzan S. Alkuraya

    Editorial 24 January 2024 Pages: 101 - 105

    

44. Bi-allelic missense variants in MEI4 cause preimplantation embryonic arrest and female infertility

    • Zhiqi Pan
    • Weijie Wang
    • Biaobang Chen

    Original Investigation 22 January 2024

    

45. Exploring the effects of missense mutations on protein thermodynamics through structure-based approaches: findings from the CAGI6 challenges

    • Carlos H. M. Rodrigues
    • Stephanie Portelli
    • David B. Ascher

    Short Communication Open access 16 January 2024

    

46. Genome-wide DNA methylation of lesional and peri-lesional skin in vitiligo: a comparative and integrated analysis of multi-omics in Chinese population

    • Lin Liu
    • Yuzhou Xue
    • Jin Chen

    Original Investigation 06 January 2024 Pages: 137 - 149

    

47. Genomic analysis of presumed perinatal stroke in Saudi Arabia reveals a strong monogenic contribution

    • Muneera J. Alshammari
    • Hanan E. Shamseldin
    • Fowzan S. Alkuraya

    Original Investigation 05 January 2024 Pages: 59 - 69

    

48. Genome-wide association and Mendelian randomization analysis provide insights into the shared genetic architecture between high-dimensional electrocardiographic features and ischemic heart disease

    • Xinfeng Wang
    • Mengling Qi
    • Huiying Zhao

    Original Investigation 05 January 2024 Pages: 49 - 58

    

49. Predicting the impact of rare variants on RNA splicing in CAGI6

    • Jenny Lord
    • Carolina Jaramillo Oquendo
    • Diana Baralle

    Original Investigation Open access 03 January 2024

    

50. Mining local exome and HLA data to characterize pharmacogenetic variants in Saudi Arabia

    • Mohamed Abouelhoda
    • Noura Almuqati
    • Fowzan S. Alkuraya

    Original Investigation 30 December 2023 Pages: 125 - 136