Frontiers in Genetics

Original Research

Published on 22 Aug 2025

Novel pathogenic splicing mutation in COL11A1 in a patient with Stickler syndrome verified by minigene splicing assay

in Genetics of Common and Rare Diseases

Jie Zhang
Yaxin Huang
Yafei Deng
Xiaochun Yang
Hong Shi
Yuecheng Yang
Tao Lv
Yuanlong Yan
Ming He
Fang Liu

Frontiers in Genetics

doi 10.3389/fgene.2025.1642604

2,222 views

Review

Published on 21 Aug 2025

A decade of research on genetic privacy: the findings of the GetPreCiSe Center at Vanderbilt University

in ELSI in Science and Genetics

Christopher Slobogin
Karli Tellis
Ellen Wright Clayton
Jay Clayton
Ayden Eilmus
Bradley A. Malin

Frontiers in Genetics

doi 10.3389/fgene.2025.1629386

4,294 views
2 citations

Original Research

Published on 21 Aug 2025

Comparative genomic insights into adaptation, selection signatures, and population dynamics in indigenous Indian sheep and foreign breeds

in Livestock Genomics

Malarmathi Muthusamy
Oludayo Michael Akinsola
Pritam Pal
Chitra Ramasamy
Saravanan Ramasamy
Abdulraheem Arome Musa
Aranganoor Kannan Thiruvenkadan

Frontiers in Genetics

doi 10.3389/fgene.2025.1621960

3,458 views
2 citations

Correction

Published on 21 Aug 2025

Correction: Analysis and validation of novel biomarkers related to palmitoylation in adenomyosis

in Computational Genomics

Hongyu Zhang
Yufeng Li
Huijuan Cao
Yiling Zhao
Hongwen Zhu
Tiansheng Qin

Frontiers in Genetics

doi 10.3389/fgene.2025.1683914

1,409 views

Original Research

Published on 21 Aug 2025

Small nucleolar RNA SNORD13H suppresses tumor progression via FBL-dependent 2′-O-methylation in hepatocellular carcinoma

in RNA

Minglu Zhang
Jianbo He
Rao Fu
Guojian Bao
Yijun Lu
Zechuan Zhang
Jiawu Yan
Jialu Ding
Fei Yang
Beicheng Sun

Frontiers in Genetics

doi 10.3389/fgene.2025.1620552

3,115 views

Case Report

Published on 21 Aug 2025

Case Report: Pathogenic PNPLA2 variants and nonsense-mediated mRNA decay result in an early-onset neutral lipid storage disease with myopathy

in Genetics of Common and Rare Diseases

Sara Missaglia
Eleonora Martegani
Corrado Angelini
Rita Horvath
Veronika Karcagi
Endre Pal
Daniela Tavian

Frontiers in Genetics

doi 10.3389/fgene.2025.1642442

2,256 views

Original Research

Published on 20 Aug 2025

Unraveling the pathogenicity role of the novel compound heterozygous mutations of MED25 gene in a Chinese patient with BVSYS

in Statistical Genetics and Methodology

Linbing Zou
Ruikang Qiu
Zhijun Dai
Yulei Li
Yunjiao Liao
Yan Zhou

Frontiers in Genetics

doi 10.3389/fgene.2025.1654336

3,042 views

Original Research

Published on 20 Aug 2025

A metagenome-wide association study of gut microbiota in hepatitis B virus-related cirrhosis in northwest China

in Human and Medical Genomics

Meirong Feng
Yan Chai
Jinna Li
Qi Wang
Dekui Zhang

Frontiers in Genetics

doi 10.3389/fgene.2025.1619911

3,483 views

Editorial

Published on 20 Aug 2025

Editorial: Rare diseases research and diagnosis in low- and middle-income countries

in Genetics of Common and Rare Diseases

Claudia Gonzaga-Jauregui
Ferran Casals
Vajira H. W. Dissanayake

Frontiers in Genetics

doi 10.3389/fgene.2025.1675361

1,959 views
1 citation

Editorial

Published on 19 Aug 2025

Editorial: Genome-wide identification of functional markers to enhance molecular breeding efforts in agriculturally important, underutilized, and less explored plant species

in Genetics and Genomics of Plants and Plant-Associated Organisms

Rajni Parmar
Sapna Thakur
Ram Kumar Sharma

Frontiers in Genetics

doi 10.3389/fgene.2025.1627482

1,961 views

Original Research

Published on 18 Aug 2025

High-density SNP-based linkage map construction and QTL analysis for growth-related traits in Luciobarbus brachycephalus using whole-genome resequencing data

in Livestock Genomics

Xuanpeng Wang
Dandan Gao
Gaowei Zhang
Yongchun Ge
Xinhai Wang

Frontiers in Genetics

doi 10.3389/fgene.2025.1644874

2,226 views

Original Research

Published on 18 Aug 2025

Bioinformatics analysis combined with untargeted metabolomics reveals lipid metabolism-related genes and their biological markers in chronic spontaneous urticaria

in Human and Medical Genomics

Zhiming Hu
Qiong Wang
Yuqi Wang
Yao Gao
Jianhua Hao
Rui Li
Hua Zhao
Shuping Guo
Hongzhou Cui

Frontiers in Genetics

doi 10.3389/fgene.2025.1550205

3,051 views

Original Research

Published on 18 Aug 2025

The comparison of the prognostic value of different inflammation-related indicators in patients with oral squamous cell carcinoma

in Cancer Genetics and Oncogenomics

Aoming Cheng
Kaixiong Wei
Qiaoshi Xu
Chong Wang
Bo Li
Huan Liu
Lirui Zhang
Hanchen Zhou
Yu Huang
Yiming Zhang

Frontiers in Genetics

doi 10.3389/fgene.2025.1652603

2,256 views
1 citation

Original Research

Published on 18 Aug 2025

Identification of anoikis-related genes to develop a risk model and predict the prognosis and tumor microenvironment in rectal adenocarcinoma

in Cancer Genetics and Oncogenomics

Bing Zhao
Xuegui Tang

Frontiers in Genetics

doi 10.3389/fgene.2025.1604541

2,127 views

Original Research

Published on 18 Aug 2025

Four novel genetic mutations are associated with patent foramen ovale in Tibetan population using whole exome sequencing

in Genetics of Common and Rare Diseases

Hongwei Li
Yongjun He
Yong Wu
Lanxin Liu
Wei Du
Duika Wang
Zeng He
Liming Zhao

Frontiers in Genetics

doi 10.3389/fgene.2025.1592306

2,591 views

Original Research

Published on 15 Aug 2025

A Benchmark of methods for SARS-CoV-2 whole genome sequencing and development of a more sensitive method

in Genomic Assay Technology

Anthony Bayega
Sarah J. Reiling
Ju Ling Liu
Isabelle Dubuc
Annie Gravel
Louis Flamand
Jiannis Ragoussis

Frontiers in Genetics

doi 10.3389/fgene.2025.1516791

3,882 views
1 citation

Original Research

Published on 15 Aug 2025

A retrospective analysis of 38,652 amniotic fluid karyotype

in Human and Medical Genomics

Jianyu Ren
Xiaojiao Guan
Wenzhe Lv
Yousheng Yan
Yanmei Si
Shufa Yang
Chenghong Yin

Frontiers in Genetics

doi 10.3389/fgene.2025.1655290

2,333 views
1 citation

Original Research

Published on 15 Aug 2025

New therapeutic targets for endometriosis predicted through mendelian randomization analysis and case-control trials

in Applied Genetic Epidemiology

Linyao Zheng
Yue Yin
Xiaotong Wang
Baoju Wang
Ran Cui
Guangmei Zhang

Frontiers in Genetics

doi 10.3389/fgene.2025.1631446

4,658 views

Original Research

Published on 15 Aug 2025

Integrative machine learning and Mendelian randomization identify causal laboratory biomarkers for coronary artery lesions in Kawasaki disease: a prospective study

in Computational Genomics

Hancao Yang
Meng Wu
Keqing Liang
Yi Li
Ran Yang
Beibei Yuan
Ming Wu
Jin Xu

Frontiers in Genetics

doi 10.3389/fgene.2025.1646032

2,696 views

Case Report

Published on 15 Aug 2025

A rare intronic c.2654+1G>A mutation in CSF1R-microglial encephalopathy: a case report

in Genetics of Common and Rare Diseases

HongYan Wu
JingYu Shi
XiaoShan Wang
Mei Yang
Jing Cai

Frontiers in Genetics

doi 10.3389/fgene.2025.1593964

1,987 views

Original Research

Published on 14 Aug 2025

Pseudohypoparathyroidism type 1B mimicking gitelman syndrome: diagnostic pitfalls and molecular insights

in Genetics of Common and Rare Diseases

Yiming Zhao
Lijun Mou
Oumayma Akaaboune
Jiudan Zhang

Frontiers in Genetics

doi 10.3389/fgene.2025.1638472

2,131 views

Original Research

Published on 14 Aug 2025

Genetic basis of phenotypic diversity in C. stenophylla: a stepping stone for climate-adapted coffee cultivar development

in Genomics of Plants and Plant-Associated Organisms

Paul M. Lahai
Peter O. Aikpokpodion
Alieu Mohamed Bah
Mohamed T. Lahai
Lyndel W. Meinhardt
Seunghyun Lim
Ezekiel Ahn
Dapeng Zhang
Sunchung Park

Frontiers in Genetics

doi 10.3389/fgene.2025.1554029

3,270 views
1 citation

Original Research

Published on 14 Aug 2025

Shared genetic architecture between grip strength and cognitive function: insights from large-scale genome-wide cross-trait analysis

in Genetics of Aging

Hong Liu
Gangqiang Wu
Jun Tan
Chunyun Yuan

Frontiers in Genetics

doi 10.3389/fgene.2025.1538308

3,049 views

Case Report

Published on 14 Aug 2025

Case Report: Hereditary neuropathy with liability to pressure palsy (HNPP): the role of genetic investigation in diagnostic assessment

in Neurogenomics

Salvatore Savasta
Fabiola Serra
Lucrezia Galimberti
Francesco Fabrizio Comisi
Marcello Cossu
Alessandro Vannelli
Maddalena Masala
Sara Tanca
Stefania Murru

Frontiers in Genetics

doi 10.3389/fgene.2025.1613022

4,233 views
2 citations

16,574 articles

articles

Novel pathogenic splicing mutation in COL11A1 in a patient with Stickler syndrome verified by minigene splicing assay

A decade of research on genetic privacy: the findings of the GetPreCiSe Center at Vanderbilt University

Comparative genomic insights into adaptation, selection signatures, and population dynamics in indigenous Indian sheep and foreign breeds

Correction: Analysis and validation of novel biomarkers related to palmitoylation in adenomyosis

Small nucleolar RNA SNORD13H suppresses tumor progression via FBL-dependent 2′-O-methylation in hepatocellular carcinoma

Case Report: Pathogenic PNPLA2 variants and nonsense-mediated mRNA decay result in an early-onset neutral lipid storage disease with myopathy

Unraveling the pathogenicity role of the novel compound heterozygous mutations of MED25 gene in a Chinese patient with BVSYS

A metagenome-wide association study of gut microbiota in hepatitis B virus-related cirrhosis in northwest China

Editorial: Rare diseases research and diagnosis in low- and middle-income countries

Editorial: Genome-wide identification of functional markers to enhance molecular breeding efforts in agriculturally important, underutilized, and less explored plant species

High-density SNP-based linkage map construction and QTL analysis for growth-related traits in Luciobarbus brachycephalus using whole-genome resequencing data

Bioinformatics analysis combined with untargeted metabolomics reveals lipid metabolism-related genes and their biological markers in chronic spontaneous urticaria

The comparison of the prognostic value of different inflammation-related indicators in patients with oral squamous cell carcinoma

Identification of anoikis-related genes to develop a risk model and predict the prognosis and tumor microenvironment in rectal adenocarcinoma

Four novel genetic mutations are associated with patent foramen ovale in Tibetan population using whole exome sequencing

A Benchmark of methods for SARS-CoV-2 whole genome sequencing and development of a more sensitive method

A retrospective analysis of 38,652 amniotic fluid karyotype

New therapeutic targets for endometriosis predicted through mendelian randomization analysis and case-control trials

Integrative machine learning and Mendelian randomization identify causal laboratory biomarkers for coronary artery lesions in Kawasaki disease: a prospective study

A rare intronic c.2654+1G>A mutation in CSF1R-microglial encephalopathy: a case report

Pseudohypoparathyroidism type 1B mimicking gitelman syndrome: diagnostic pitfalls and molecular insights

Genetic basis of phenotypic diversity in C. stenophylla: a stepping stone for climate-adapted coffee cultivar development

Shared genetic architecture between grip strength and cognitive function: insights from large-scale genome-wide cross-trait analysis

Case Report: Hereditary neuropathy with liability to pressure palsy (HNPP): the role of genetic investigation in diagnostic assessment