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-FloresMarc Corral-JuanAntoni Matilla-Dueñas Original Investigation Open access 23 February 2024 Pages: 211 - 232
The relationship between extreme inter-individual variation in macrophage gene expression and genetic susceptibility to inflammatory bowel disease Claire L. O’BrienKim M. SummersPaul Pavli Original Investigation Open access 29 February 2024 Pages: 233 - 261
Identification and functional analysis of rare HECTD1 missense variants in human neural tube defects Elias OxmanHuili LiIrene E. Zohn Original Investigation Open access 07 March 2024 Pages: 263 - 277
Heterozygous MAP3K20 variants cause ectodermal dysplasia, craniosynostosis, sensorineural hearing loss, and limb anomalies Daniel BrooksElizabeth BurkeLindsay C. Burrage Original Investigation 07 March 2024 Pages: 279 - 291
Clinical and genetic architecture of a large cohort with auditory neuropathy Hongyang WangLiping GuanQiuju Wang Original Investigation Open access 08 March 2024 Pages: 293 - 309
PKHD1L1, a gene involved in the stereocilia coat, causes autosomal recessive nonsyndromic hearing loss Shelby E. RedfieldPedro De-la-TorreBarbara Vona Original Investigation Open access 09 March 2024 Pages: 311 - 329
PdmIRD: missense variants pathogenicity prediction for inherited retinal diseases in a disease-specific manner Bing ZengDong Cheng LiuBo Qin Original Investigation 13 March 2024 Pages: 331 - 342
STEAP3 promotes colon cancer cell proliferation and migration via regulating histone acetylation Jinjuan LvXiaoqian LiuYunfei Zuo Original Investigation 13 March 2024 Pages: 343 - 355
Novel compound heterozygous variants in FANCI cause premature ovarian insufficiency Lili CaoXinmiao HeYajuan Yang Original Investigation 14 March 2024 Pages: 357 - 369
A novel 193-plex MPS panel integrating STRs and SNPs highlights the application value of forensic genetics in individual identification and paternity testing Xueyuan LiuChengliang YangChao Liu Original Investigation 18 March 2024 Pages: 371 - 383
Genome-wide analyses reveal the regulatory roles of DNA methylation-regulated alternative promoter transcripts in breast cancer Yingdong SongTao ShenXiangting Wang Original Investigation 19 March 2024 Pages: 385 - 399
The association between DNA methylation and human height and a prospective model of DNA methylation-based height prediction Zhonghua WangGuangping FuShujin Li Original Investigation 20 March 2024 Pages: 401 - 421
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-PerezAlvaro Gallego-MartinezJose A. Lopez-Escamez Original Investigation Open access 22 March 2024 Pages: 423 - 435
Biallelic variants in GTF3C5, a regulator of RNA polymerase III-mediated transcription, cause a multisystem developmental disorder Aiko Iwata-OtsuboCara M. SkrabanKosuke Izumi Original Investigation 23 March 2024 Pages: 437 - 453
Heterozygous loss-of-function variants in DOCK4 cause neurodevelopmental delay and microcephaly Charlotte HerbstViktoria BotheHenry Oppermann Original Investigation Open access 25 March 2024 Pages: 455 - 469