Frontiers in Genetics

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

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

3,061 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

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

2,600 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

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

3,893 views
1 citation

Original Research

Published on 15 Aug 2025

A retrospective analysis of 38,652 amniotic fluid karyotype

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

Frontiers in Genetics

doi 10.3389/fgene.2025.1655290

2,346 views
1 citation

Original Research

Published on 15 Aug 2025

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

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

Frontiers in Genetics

doi 10.3389/fgene.2025.1631446

4,672 views

Case Report

Published on 15 Aug 2025

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

HongYan Wu
JingYu Shi
XiaoShan Wang
Mei Yang
Jing Cai

Frontiers in Genetics

doi 10.3389/fgene.2025.1593964

1,998 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

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

2,715 views

Original Research

Published on 14 Aug 2025

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

Yiming Zhao
Lijun Mou
Oumayma Akaaboune
Jiudan Zhang

Frontiers in Genetics

doi 10.3389/fgene.2025.1638472

2,149 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

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

3,279 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

Hong Liu
Gangqiang Wu
Jun Tan
Chunyun Yuan

Frontiers in Genetics

doi 10.3389/fgene.2025.1538308

3,066 views

Original Research

Published on 14 Aug 2025

The rare hemoglobin variants Hb O-Arab and Hb D-Punjab identified in population-based genetic screening throughout Guangxi, China

Chunrong Gui
Zifeng Cheng
Yongsheng Chen
Yunting Ma
Hongfei Chen
Wei Wei
Xianda Wei
Juliang Liu
Xu Zhou
Qianqian Du

Frontiers in Genetics

doi 10.3389/fgene.2025.1622391

3,008 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

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

4,241 views
2 citations

Original Research

Published on 14 Aug 2025

Construction and immunohistochemical validation of a necroptosis-related prognostic signature in bladder cancer and its association with tumor immune infiltration

Tao Wang
Fei Ding
Kai Sun

Frontiers in Genetics

doi 10.3389/fgene.2025.1527907

2,942 views

Original Research

Published on 14 Aug 2025

Cis-regulation analysis of RNA m6A methylation and gene expression in colorectal cancer

Zhen-Liang Lin
Pan-Pan Yu
Bei-Lei Ye

Frontiers in Genetics

doi 10.3389/fgene.2025.1622957

3,351 views
1 citation

Original Research

Published on 13 Aug 2025

High-throughput sequencing unravels placental vascular dysfunction and oxidative stress as mechanistic drivers of advanced maternal age-associated pregnancy

Xin Sun
Yao Chen
Feifei Hu
Yumeng Qiao
He Wu
Yao Su
Yue Hu
Jie Wu
Mingli Huang

Frontiers in Genetics

doi 10.3389/fgene.2025.1636834

2,592 views

Review

Published on 13 Aug 2025

Machine learning tools for deciphering the regulatory logic of enhancers in health and disease

Spyros Foutadakis
Vasiliki Bourika
Ioanna Styliara
Panagiotis Koufargyris
Asimina Safarika
Eleni Karakike

Frontiers in Genetics

doi 10.3389/fgene.2025.1603687

3,453 views
1 citation

Original Research

Published on 13 Aug 2025

A comprehensive analysis identifies and validates NPC1 as a potential biomarker for prognosis in HCC

Xingjun Lu
Tianyao Gou
Xuxing He
Xia Chen
Daqing Yang
Xiaozhen Peng

Frontiers in Genetics

doi 10.3389/fgene.2025.1588583

2,294 views

Original Research

Published on 13 Aug 2025

Integrative multi-omics analysis and machine learning reveal the unique role of ASCC3 in combination with various immune-related genes in rectal adenocarcinoma

Chuang Miao
Fei Qian

Frontiers in Genetics

doi 10.3389/fgene.2025.1614946

2,943 views

Case Report

Published on 13 Aug 2025

Case Report: Unmasking the role of rem sleep in modulating non-convulsive status epilepticus in ring chromosome 20 syndrome: a genetic disorder of sleep architecture?

Filippo Mandato
Maria Teresa Di Claudio
Umberto Costantino
Francesca Rovito
Orazio Palumbo
Pietro Palumbo
Angela La Neve
Maura Pugliatti
M. Castori
Massimo Carella

Frontiers in Genetics

doi 10.3389/fgene.2025.1626457

2,205 views

Original Research

Published on 13 Aug 2025

Genetic analysis of non-syndromic peg lateralis using whole-exome sequencing

Junglim Choi
Sungnam Kim
Hyunsoo Ahn
Donghyo Kim
Sung-Won Cho
Sanguk Kim
Jae Hoon Lee

Frontiers in Genetics

doi 10.3389/fgene.2025.1572966

2,065 views
1 citation

Original Research

Published on 13 Aug 2025

The association between diabetes and head and neck squamous cell carcinoma: evidence from clinical cohort and bioinformatics analyses

Yurong He
Jiaming Chen
Boxuan Han
Yanming Zhao
Lizhen Hou
Jugao Fang
Meng Lian

Frontiers in Genetics

doi 10.3389/fgene.2025.1660012

2,253 views
2 citations

Editorial

Published on 12 Aug 2025

Editorial: Genetics of non-syndromic hearing loss

Caio Robledo D’ Angioli Costa Quaio
Saba Battelino

Frontiers in Genetics

doi 10.3389/fgene.2025.1665942

1,809 views

Editorial

Published on 12 Aug 2025

Editorial: Next generation sequencing and cancer: new steps towards personalized medicine

Erika Bandini
Clévia Rosset

Frontiers in Genetics

doi 10.3389/fgene.2025.1675753

2,240 views

Case Report

Published on 11 Aug 2025

Identification of a novel, pathogenic CREBBP variant in a patient with Menke-Hennekam syndrome: a Case Report

Anna Μaria Anastasiou
Constantia Aristidou
Athina Theodosiou
Ludmila Kousoulidou
Ioannis Papaevripidou
Angelos Alexandrou
Paola Evangelidou
Carolina Sismani
George A. Tanteles
Despina Sanoudou

Frontiers in Genetics

doi 10.3389/fgene.2025.1585453

3,586 views

963 Publications

volumes

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

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

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

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

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

The rare hemoglobin variants Hb O-Arab and Hb D-Punjab identified in population-based genetic screening throughout Guangxi, China

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

Construction and immunohistochemical validation of a necroptosis-related prognostic signature in bladder cancer and its association with tumor immune infiltration

Cis-regulation analysis of RNA m6A methylation and gene expression in colorectal cancer

High-throughput sequencing unravels placental vascular dysfunction and oxidative stress as mechanistic drivers of advanced maternal age-associated pregnancy

Machine learning tools for deciphering the regulatory logic of enhancers in health and disease

A comprehensive analysis identifies and validates NPC1 as a potential biomarker for prognosis in HCC

Integrative multi-omics analysis and machine learning reveal the unique role of ASCC3 in combination with various immune-related genes in rectal adenocarcinoma

Case Report: Unmasking the role of rem sleep in modulating non-convulsive status epilepticus in ring chromosome 20 syndrome: a genetic disorder of sleep architecture?

Genetic analysis of non-syndromic peg lateralis using whole-exome sequencing

The association between diabetes and head and neck squamous cell carcinoma: evidence from clinical cohort and bioinformatics analyses

Editorial: Genetics of non-syndromic hearing loss

Editorial: Next generation sequencing and cancer: new steps towards personalized medicine

Identification of a novel, pathogenic CREBBP variant in a patient with Menke-Hennekam syndrome: a Case Report