Frontiers in Genetics

Case Report

Published on 26 May 2025

Case Report: A neurodevelopmental disorder with global developmental delay, microcephaly, eye anomalies, sweat dysregulation, and skeletal implications due to an ultra-rare de novo 5q14.3q15 copy number gain

Costela Lacrimioara Serban
Alexandra Mihailescu
Diana Miclea
Cristian G. Zimbru
Florina Stoica
Adela Chirita-Emandi

Frontiers in Genetics

doi 10.3389/fgene.2025.1549685

2,085 views

Brief Research Report

Published on 23 May 2025

Molecular variants of multiple genes were revealed by whole-exome sequencing in PCOS patients with diabetes

Chenglin Wang

Frontiers in Genetics

doi 10.3389/fgene.2025.1541946

3,195 views

Original Research

Published on 23 May 2025

The role of E2F1 in promoting EIF4EBP1 transcription in cryptorchid mice: association with autophagy in germ cells

Jianguo Zhang
Yanhui Liu
Hailong Zhang
Lin Yang
Danjing Sun
Lili Xiao
Xiaoyun Wang
Xiangming Wu

Frontiers in Genetics

doi 10.3389/fgene.2025.1536672

2,006 views

Original Research

Published on 23 May 2025

Global, regional, and national burden of glucose-6-phosphate dehydrogenase (G6PD) deficiency from 1990 to 2021: a systematic analysis of the global burden of disease study 2021

Zhengyu Yu
Qiang Xiong
Zhongwang Wang
Linfeng Li
Ting Niu

Frontiers in Genetics

doi 10.3389/fgene.2025.1593728

7,586 views
9 citations

Brief Research Report

Published on 23 May 2025

Distinct germ-line genetic mutation patterns correlate with reproductive outcomes in ICSI patients: a pilot study

Ting Jiang
Yan Wang
Wandai Wu
Qianru Yang
Sixian Wu
Xueguang Zhang
Wenming Xu

Frontiers in Genetics

doi 10.3389/fgene.2025.1610943

2,468 views

Case Report

Published on 22 May 2025

Case Report: Optical genome mapping enables identification of complex balanced chromosomal rearrangements

Xiaohang Hu
Jing Guo
Haiyang Sang
Jinyan Yan
Hong Chang
Ting Liu
Haixin Dong
Min Kong
Yanjun Tian
Liqing Jiang

Frontiers in Genetics

doi 10.3389/fgene.2025.1555485

2,950 views
1 citation

Case Report

Published on 22 May 2025

Autosomal recessive primary microcephaly in sibs in time of Zika epidemic: a Case Report

Julia V. Almeida
Bianca Barbosa Abdala
Natana Chaves Rabelo
Maria Eduarda Gomes
Elenice Ferreira Bastos
Juan Clinton Llerena
Sayonara Gonzalez

Frontiers in Genetics

doi 10.3389/fgene.2025.1565296

2,179 views
2 citations

Original Research

Published on 22 May 2025

Outcomes of cochlear implants in patients with PCDH15 mutations: a clinical study

Qingling Bi
Zhongyan Chen
Baoling Kang
Yong Lv
Yongyi Yuan
Yang Liu
Jianfeng Liu
Yuan Li

Frontiers in Genetics

doi 10.3389/fgene.2025.1541333

2,214 views
1 citation

Methods

Published on 22 May 2025

stGuide advances label transfer in spatial transcriptomics through attention-based supervised graph representation learning

Yupeng Xu
Hao Dai
Jinwang Feng
Keren Xu
Qiu Wang
Pingting Gao
Chunman Zuo

Frontiers in Genetics

doi 10.3389/fgene.2025.1566675

2,800 views
1 citation

Original Research

Published on 22 May 2025

Whole exome sequencing and bioinformatics reveal PMAIP1 and PDGFRL as immune-related gene markers in follicular thyroid carcinoma

Haobo Wang
Fangjian Shang
Xia Jiang
Zhongxin Li
Dongyun Li
Chuanmin Zhou
Bo Pang
Longfei Kang
Bo Liu
Zengren Zhao

Frontiers in Genetics

doi 10.3389/fgene.2025.1509245

2,424 views
2 citations

Original Research

Published on 21 May 2025

IGF-1 secreted by mesenchymal stem cells affects the function of lymphatic endothelial progenitor cells: a potential strategy for the treatment of lymphedema

Zekuan Xue
Dongdong Yang
Zhiwei Jin
Yijie Li
Yunfei Yu
Xinchun Zhao
Yongzhou Huang
Shengqiu Jia
Tong Zhang
Guilin Huang

Frontiers in Genetics

doi 10.3389/fgene.2025.1584095

3,205 views
1 citation

Original Research

Published on 20 May 2025

IFI35 and IFIT3 are potentially important biomarkers for early diagnosis and treatment of esophageal squamous cell carcinoma: based on WGCNA and machine learning analysis

Hao Wu
Liang Yang
Xiaokun Weng

Frontiers in Genetics

doi 10.3389/fgene.2025.1583202

2,352 views

Original Research

Published on 20 May 2025

Impact of ITH on PRAD patients and feasibility analysis of the positive correlation gene MYLK2 applied to PRAD treatment

Chuanyu Ma
Guandu Li
Xiaohan Song
Xiaochen Qi
Tao Jiang

Frontiers in Genetics

doi 10.3389/fgene.2025.1589259

3,064 views

Editorial

Published on 20 May 2025

Editorial: A year in review: discussions in human and medical genomics

Maxim B. Freidin
Jared C. Roach

Frontiers in Genetics

doi 10.3389/fgene.2025.1618183

1,724 views

Original Research

Published on 20 May 2025

Lack of association between genetic variations in CYP3A5 and blood pressure or hypertension risk in the UK biobank

Pia Leibold
Christelle Lteif
Julio D. Duarte

Frontiers in Genetics

doi 10.3389/fgene.2025.1490863

2,200 views

Original Research

Published on 19 May 2025

Normal hearing function genetics: have you heard all about it? An integrated approach of genome-wide association studies and transcriptome-wide association studies in three Italian cohorts

Aurora Santin
Giulia Pianigiani
Alessandro Gialluisi
Alessandro Pecori
Beatrice Spedicati
Simona Costanzo
Mariarosaria Persichillo
Francesca Bracone
Giuseppe Giovanni Nardone
Paola Tesolin

Frontiers in Genetics

doi 10.3389/fgene.2025.1522338

3,188 views

Original Research

Published on 19 May 2025

Evaluating the therapeutic potential of BSA-reduced mussel-derived selenium nanoparticles to mitigate copper sulfate-induced hepatic damage and neurodegeneration in a zebrafish model

Suganiya Umapathy
Ieshita Pan

Frontiers in Genetics

doi 10.3389/fgene.2025.1522370

2,280 views
3 citations

Original Research

Published on 19 May 2025

Analysis of the correlation between RFC4 expression and tumor immune microenvironment and prognosis in patients with cervical cancer

Bifen Huang
Jianqing Zheng
Bizhen Chen
Min Wu
Lihua Xiao

Frontiers in Genetics

doi 10.3389/fgene.2025.1514383

2,948 views
3 citations

Case Report

Published on 19 May 2025

Cognitive decline in an adult with ATR-16 syndrome due to an unbalanced translocation between 11p15.5 and 16p13.3: a case report

Angela Krutish
Rebekah Kukurudz-Gorowski
Felippe Borlot
Patrick Frosk
Cheryl Rockman-Greenberg
Aizeddin A. Mhanni

Frontiers in Genetics

doi 10.3389/fgene.2025.1595298

1,931 views

Original Research

Published on 16 May 2025

Transcriptome analysis indicates improved adipose tissue function in growing Iberian pig fed olive by-products based diets

Patricia Palma-Granados
Juan M. García-Casco
Ramón Peiró-Pastor
Cristina Óvilo
Miguel A. Delgado
Fabián García
Adrián López-García
Elena González
María Muñoz

Frontiers in Genetics

doi 10.3389/fgene.2025.1571393

1,659 views

Original Research

Published on 16 May 2025

Genetic landscape of hypertrophic cardiomyopathy in Hong Kong Chinese population

Derek P. H. Lee
Ye Cao
Lilei Zhang

Frontiers in Genetics

doi 10.3389/fgene.2025.1583838

2,905 views

Opinion

Published on 16 May 2025

From bites to bytes: understanding how and why individual malaria risk varies using artificial intelligence and causal inference

Adèle Helena Ribeiro
Júlia M. P. Soler
Rodrigo M. Corder
Marcelo U. Ferreira
Dominik Heider

Frontiers in Genetics

doi 10.3389/fgene.2025.1599826

3,012 views
1 citation

Original Research

Published on 15 May 2025

Genome-wide identification and expression analysis of the WRKY transcription factors related to sesquiterpenes biosynthesis in Atractylodes lancea

Hua Liang
Weiwei Liu
Zhiqiang Zhao
Yaqian Li
Liangping Zha

Frontiers in Genetics

doi 10.3389/fgene.2025.1551991

2,111 views
1 citation

Original Research

Published on 15 May 2025

Integrated transcriptomic analysis of COVID-19 stages and recovery: insights into key gene signatures, immune features, and diagnostic biomarkers through machine learning

Zhiyuan Gong
He An

Frontiers in Genetics

doi 10.3389/fgene.2025.1599867

2,754 views
2 citations

16,564 Publications

volumes

Volume 16 - 2025

Case Report: A neurodevelopmental disorder with global developmental delay, microcephaly, eye anomalies, sweat dysregulation, and skeletal implications due to an ultra-rare de novo 5q14.3q15 copy number gain

Molecular variants of multiple genes were revealed by whole-exome sequencing in PCOS patients with diabetes

The role of E2F1 in promoting EIF4EBP1 transcription in cryptorchid mice: association with autophagy in germ cells

Global, regional, and national burden of glucose-6-phosphate dehydrogenase (G6PD) deficiency from 1990 to 2021: a systematic analysis of the global burden of disease study 2021

Distinct germ-line genetic mutation patterns correlate with reproductive outcomes in ICSI patients: a pilot study

Case Report: Optical genome mapping enables identification of complex balanced chromosomal rearrangements

Autosomal recessive primary microcephaly in sibs in time of Zika epidemic: a Case Report

Outcomes of cochlear implants in patients with PCDH15 mutations: a clinical study

stGuide advances label transfer in spatial transcriptomics through attention-based supervised graph representation learning

Whole exome sequencing and bioinformatics reveal PMAIP1 and PDGFRL as immune-related gene markers in follicular thyroid carcinoma

IGF-1 secreted by mesenchymal stem cells affects the function of lymphatic endothelial progenitor cells: a potential strategy for the treatment of lymphedema

IFI35 and IFIT3 are potentially important biomarkers for early diagnosis and treatment of esophageal squamous cell carcinoma: based on WGCNA and machine learning analysis

Impact of ITH on PRAD patients and feasibility analysis of the positive correlation gene MYLK2 applied to PRAD treatment

Editorial: A year in review: discussions in human and medical genomics

Lack of association between genetic variations in CYP3A5 and blood pressure or hypertension risk in the UK biobank

Normal hearing function genetics: have you heard all about it? An integrated approach of genome-wide association studies and transcriptome-wide association studies in three Italian cohorts

Evaluating the therapeutic potential of BSA-reduced mussel-derived selenium nanoparticles to mitigate copper sulfate-induced hepatic damage and neurodegeneration in a zebrafish model

Analysis of the correlation between RFC4 expression and tumor immune microenvironment and prognosis in patients with cervical cancer

Cognitive decline in an adult with ATR-16 syndrome due to an unbalanced translocation between 11p15.5 and 16p13.3: a case report

Transcriptome analysis indicates improved adipose tissue function in growing Iberian pig fed olive by-products based diets

Genetic landscape of hypertrophic cardiomyopathy in Hong Kong Chinese population

From bites to bytes: understanding how and why individual malaria risk varies using artificial intelligence and causal inference

Genome-wide identification and expression analysis of the WRKY transcription factors related to sesquiterpenes biosynthesis in Atractylodes lancea

Integrated transcriptomic analysis of COVID-19 stages and recovery: insights into key gene signatures, immune features, and diagnostic biomarkers through machine learning