The detection of a strong episignature for Chung–Jansen syndrome, partially overlapping with Börjeson–Forssman–Lehmann and White–Kernohan syndromes Niels VosSadegheh HaghshenasMieke M. van Haelst Original Investigation Open access 24 May 2024
Advances in long-read single-cell transcriptomics Pallawi KumariManmeet KaurAmarinder Singh Thind Review Open access 24 May 2024
Characterization of a novel HDAC2 pathogenetic variant: a missing puzzle piece for chromatinopathies Elisabetta Di FedeAntonella LettieriCristina Gervasini Original Investigation Open access 16 May 2024
Human ABL1 deficiency syndrome (HADS) is a recognizable syndrome distinct from ABL1-related congenital heart defects and skeletal malformations syndrome Lama AlAbdiTeresa NeuhannFowzan S. Alkuraya Original Investigation 14 May 2024
The natural history and genotype–phenotype correlations of TMPRSS3 hearing loss: an international, multi-center, cohort analysis Brett M. ColbertCris LantingXue Zhong Liu Original Investigation Open access 30 April 2024 Pages: 721 - 734
Chromatinopathies – from discovery to clinical diagnosis in the real world Bianca E. RussellWen-Hann Tan Editorial 26 April 2024 Pages: 471 - 473
A novel network-based method identifies a cuproplasia-related pan-cancer gene signature to predict patient outcome Vu Viet Hoang PhamToni Rose JueOrazio Vittorio Original Investigation Open access 20 April 2024
Examination of the shared genetic architecture between multiple sclerosis and systemic lupus erythematosus facilitates discovery of novel lupus risk loci Sophia KernsKatherine A. OwenPeter E. Lipsky Original Investigation 12 April 2024 Pages: 703 - 719
VARista: a free web platform for streamlined whole-genome variant analysis across T2T, hg38, and hg19 Noam HadarVadim DolginOhad S. Birk Original Investigation 12 April 2024 Pages: 695 - 701
Loss-of-function variants affecting the STAGA complex component SUPT7L cause a developmental disorder with generalized lipodystrophy Johannes KoppLeonard A. KochBjörn Fischer-Zirnsak Original Investigation Open access 09 April 2024 Pages: 683 - 694
Genotype-phenotype correlation in CLCN4-related developmental and epileptic encephalopathy Ahmed N. SahlyJuan Sierra-MarquezKenneth A. Myers Original Investigation 05 April 2024 Pages: 667 - 681
Phenotypic and genetic effect of carotid intima-media thickness on the risk of stroke Wenqiang ZhangJingwei ZhuBen Zhang Original Investigation 05 April 2024
Variant effect predictors: a systematic review and practical guide Cristian RiccioMax L. JansenAndreas Ziegler Review Open access 04 April 2024 Pages: 625 - 634
Prioritizing genomic variants pathogenicity via DNA, RNA, and protein-level features based on extreme gradient boosting Maolin DingKen ChenHuiying Zhao Original Investigation 04 April 2024
Semiautomated approach focused on new genomic information results in time and effort-efficient reannotation of negative exome data Alejandro FerrerPatrick DuffyEric W. Klee Original Investigation 27 March 2024 Pages: 649 - 666
Cross-ancestry genetic architecture and prediction for cholesterol traits Md. Moksedul MominXuan ZhouS. Hong Lee Original Investigation 27 March 2024 Pages: 635 - 648
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
The crucial prognostic signaling pathways of pancreatic ductal adenocarcinoma were identified by single-cell and bulk RNA sequencing data Wenwen WangGuo ChenJielai Xia Original Investigation Open access 25 March 2024
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
An AI-based approach driven by genotypes and phenotypes to uplift the diagnostic yield of genetic diseases S. ZuccaG. NicoraI. Limongelli Original Investigation Open access 23 March 2024
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
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
STRAS:a snakemake pipeline for genome-wide short tandem repeats annotation and score Zhang Mengna Original Investigation 20 March 2024
Genetic evidence for T-wave area from 12-lead electrocardiograms to monitor cardiovascular diseases in patients taking diabetes medications Mengling QiHaoyang ZhangHuiying Zhao Original Investigation 20 March 2024
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
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
Integrative regulation of hLMR1 by dietary and genetic factors in nonalcoholic fatty liver disease and hyperlipidemia Marcos E Jaso-VeraShohei TakaokaXiangbo Ruan Original Investigation 17 March 2024
Novel compound heterozygous variants in FANCI cause premature ovarian insufficiency Lili CaoXinmiao HeYajuan Yang Original Investigation 14 March 2024 Pages: 357 - 369
STEAP3 promotes colon cancer cell proliferation and migration via regulating histone acetylation Jinjuan LvXiaoqian LiuYunfei Zuo Original Investigation 13 March 2024 Pages: 343 - 355
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
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
Trisomy silencing by XIST: translational prospects and challenges Khusali GuptaJan T. CzerminskiJeanne B. Lawrence Review Open access 09 March 2024
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
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
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
Functional categorization of gene regulatory variants that cause Mendelian conditions Y. H. Hank ChengStephanie C. BohaczukAndrew B. Stergachis Review Open access 04 March 2024 Pages: 559 - 605
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
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
Bayesian network-based Mendelian randomization for variant prioritization and phenotypic causal inference Jianle SunJie ZhouYue Zhang Original Investigation 21 February 2024
Identification of TACSTD2 as novel therapeutic targets for cisplatin-induced acute kidney injury by multi-omics data integration Zebin DengZheng DongFei Deng Original Investigation 18 February 2024
Mitochondrial genetic variation and risk of chronic kidney disease and acute kidney injury in UK Biobank participants Vasantha JotwaniStephanie Y. YangDan E. Arking Original Investigation Open access 13 February 2024 Pages: 151 - 157
Miscarriage risk assessment: a bioinformatic approach to identifying candidate lethal genes and variants Mona AminbeidokhtiJia-Hua QuAleksandar Rajkovic Original Investigation Open access 01 February 2024 Pages: 185 - 195
Whole exome sequencing and polygenic assessment of a Swedish cohort with severe developmental language disorder Ashraf YahiaDanyang LiKristiina Tammimies Original Investigation Open access 01 February 2024 Pages: 169 - 183
Screening copy number variations in 35 unsolved inherited retinal disease families Xiaozhen LiuHehua DaiJing Hong Original Article Open access 29 January 2024 Pages: 197 - 210
The pivotal role of long non-coding RNAs as potential biomarkers and modulators of chemoresistance in ovarian cancer (OC) Shika Hanif MalgundkarYahya Tamimi Review 26 January 2024 Pages: 107 - 124
Expansion of the complex genotypic and phenotypic spectrum of FGFR2-associated neurocutaneous syndromes Julia SchmidtSilke KaulfußBernd Wollnik Original Investigation Open access 24 January 2024 Pages: 159 - 168
Vitamin D-binding protein deficiency: an underrecognized Mendelian disorder of vitamin D metabolism Zainab Al MasseriMashael AlqahtaniFowzan S. Alkuraya Editorial 24 January 2024 Pages: 101 - 105
Bi-allelic missense variants in MEI4 cause preimplantation embryonic arrest and female infertility Zhiqi PanWeijie WangBiaobang Chen Original Investigation 22 January 2024
Exploring the effects of missense mutations on protein thermodynamics through structure-based approaches: findings from the CAGI6 challenges Carlos H. M. RodriguesStephanie PortelliDavid B. Ascher Short Communication Open access 16 January 2024
Genome-wide DNA methylation of lesional and peri-lesional skin in vitiligo: a comparative and integrated analysis of multi-omics in Chinese population Lin LiuYuzhou XueJin Chen Original Investigation 06 January 2024 Pages: 137 - 149
