Frontiers in Genetics | Human and Medical Genomics

Original Research

Published on 04 Aug 2025

Identification of hypoxia-related diagnostic biomarkers and immune signatures in diminished ovarian reserve

in Human and Medical Genomics

Minxue Song
Lili Ni
Zebing Ma
Xin Zhong
Yibing Liu
Jilin Kuang
Ping Li

Frontiers in Genetics

doi 10.3389/fgene.2025.1626992

387 views

Original Research

Accepted on 31 Jul 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

116 views

Review

Accepted on 31 Jul 2025

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

in Human and Medical Genomics

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

Frontiers in Genetics

doi 10.3389/fgene.2025.1603687

271 views

Original Research

Accepted on 30 Jul 2025

Novel estrogen-related gene variants identified by whole-exome sequencing in pregnancy-associated intrahepatic cholestasis

in Human and Medical Genomics

Xianxian Liu
Hua Lai
Siming Xin
Jinliang Zhang
Yang Hu
Wenjuan Fan
Hong Wan
Bowen Chen
Yang Zou
Xiaoming Zeng

Frontiers in Genetics

doi 10.3389/fgene.2025.1626890

117 views

Original Research

Accepted on 28 Jul 2025

A Retrospective Analysis of 38,652 Amniotic Fluid Karyotype

in Human and Medical Genomics

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

Frontiers in Genetics

doi 10.3389/fgene.2025.1655290

112 views

Review

Published on 28 Jul 2025

Leveraging epigenetic aberrations in the pathogenesis of endometriosis: from DNA methylation to non-coding RNAs

in Human and Medical Genomics

Hajar Erraji
Adil El Ghanmi
Noureddine Louanjli
Mohamed Benahmed
Fadoua El Mansouri
Mohammed Zarqaoui
Bouchra Ghazi

Frontiers in Genetics

doi 10.3389/fgene.2025.1597287

1,155 views

Perspective

Published on 23 Jul 2025

The peruvian genome project: expanding the global pool of genome diversity from South America

in Human and Medical Genomics

Heinner Guio
Cesar Sanchez
Victor Borda
Luis Jaramillo-Valverde
Omar Caceres
Carlos Padilla
Omar Trujillo
Julio A. Poterico
Carolina Silva-Carvalho
Mary Horton

Frontiers in Genetics

doi 10.3389/fgene.2025.1614021

1,848 views

Original Research

Accepted on 21 Jul 2025

High-Throughput Sequencing Unravels Placental Vascular Dysfunction and Oxidative Stress as Mechanistic Drivers of Advanced Maternal Age-Associated Pregnancy Complications Running Head: Placental Genomics Across Different Ages

in Human and Medical Genomics

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

Frontiers in Genetics

doi 10.3389/fgene.2025.1636834

131 views

Original Research

Accepted on 11 Jul 2025

Type of the Paper: Article

in Human and Medical Genomics

Meirong Feng
Yan Chai
Jinna Li
Qi Wang
Dekui Zhang

Frontiers in Genetics

doi 10.3389/fgene.2025.1619911

394 views

Case Report

Published on 02 Jul 2025

Case Report: FBN1 mutation screening in South African patients with Marfan syndrome

in Human and Medical Genomics

F. Mhlongo
C. Feben
A. Krause
N. Carstens

Frontiers in Genetics

doi 10.3389/fgene.2025.1612411

1,006 views

Original Research

Published on 12 Jun 2025

Identification of a novel AGO2 variant causing LESKRES in a Chinese family with intellectual disability

in Human and Medical Genomics

Shufa Yang
Wei Song
Yousheng Yan

Frontiers in Genetics

doi 10.3389/fgene.2025.1598462

1,124 views

Brief Research Report

Published on 11 Jun 2025

Allelic dropout in the endoglin (ENG) gene caused by common duplication beyond the primer binding site

in Human and Medical Genomics

Anna G. Shestak
Victoria A. Rumyantseva
Elena V. Zaklyazminskaya

Frontiers in Genetics

doi 10.3389/fgene.2025.1571437

1,119 views

Original Research

Published on 04 Jun 2025

Genotype–phenotype analysis and functional study of three novel LRP6 variants in non-syndromic oligodontia

in Human and Medical Genomics

Yunyun Yuan
Ya Zhao
Lingqiang Meng
Shuyun Zheng
Hui Li
Jiabao Ren
Beibei Li
Chenyun Dou
Yan Hou
Wenjing Chen

Frontiers in Genetics

doi 10.3389/fgene.2025.1598907

1,371 views

Systematic Review

Published on 30 May 2025

Genomic insights about the effect of sodium-glucose cotransporter 2 inhibitors: a systematic review

in Human and Medical Genomics

Pavitraa Saravana Kumar
Yogapriya Chidambaram
G. Shree Devi
Vettriselvi Venkatesan
Ramesh Sankaran
Nagendra Boopathy Senguttuvan
Thanikachalam Sadagopan
Dorairaj Prabhakaran

Frontiers in Genetics

doi 10.3389/fgene.2025.1571032

1,818 views

Editorial

Published on 29 May 2025

Editorial: High-throughput sequencing-based investigation of chronic disease markers and mechanisms, volume II

in Human and Medical Genomics

Hua Li
Guoshuai Cai
Wen-Lian Chen
Xiaodong Zhao
Yuriy L. Orlov

Frontiers in Genetics

doi 10.3389/fgene.2025.1627976

973 views

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

in Human and Medical Genomics

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

Frontiers in Genetics

doi 10.3389/fgene.2025.1549685

1,176 views