Frontiers in Genetics | Human and Medical Genomics

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

in Human and Medical Genomics

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

2,261 views

Review

Published on 13 Aug 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

2,935 views
1 citation

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

2,658 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

3,954 views
1 citation

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

4,938 views
1 citation

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

1,896 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

2,077 views
1 citation

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

2,198 views
1 citation

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

2,334 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

3,222 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

1,485 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

1,893 views

Brief Research Report

Published on 23 May 2025

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

in Human and Medical Genomics

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

Frontiers in Genetics

doi 10.3389/fgene.2025.1610943

2,122 views

Editorial

Published on 20 May 2025

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

in Human and Medical Genomics

Maxim B. Freidin
Jared C. Roach

Frontiers in Genetics

doi 10.3389/fgene.2025.1618183

1,613 views

Original Research

Published on 12 May 2025

Regional patterns of genetic variants in expanded carrier screening: a next-generation sequencing pilot study in Fujian Province, China

in Human and Medical Genomics

Danhua Guo
Nani Zhou
Qianqian He
Na Lin
Shuqiong He
Deqin He
Yifang Dai
Ying Li
Xuemei Chen
Hailong Huang

Frontiers in Genetics

doi 10.3389/fgene.2025.1527228

3,210 views
1 citation

Original Research

Published on 02 May 2025

Validation of a comprehensive long-read sequencing platform for broad clinical genetic diagnosis

in Human and Medical Genomics

Siddhartha Sen
Hillary P. Handler
Alec Victorsen
Zach Flaten
Aidan Ellison
Todd P. Knutson
Sarah A. Munro
Ryan J. Martinez
Charles John Billington
Jennifer J. Laffin

Frontiers in Genetics

doi 10.3389/fgene.2025.1499456

6,239 views
4 citations

Original Research

Published on 28 Apr 2025

Integrative analysis of DNA methylation, RNA sequencing, and genomic variants in the cancer genome atlas (TCGA) to predict endometrial cancer recurrence

in Human and Medical Genomics

Jin Hwa Hong
Yung Taek Ouh
Sohyeon Jeong
Yoonji Oh
Hyun Woong Cho
Jae Kwan Lee
Hayeon Kim
Chungyeul Kim
Sanghyun Roh
Eun Na Kim

Frontiers in Genetics

doi 10.3389/fgene.2025.1569122

3,926 views
2 citations

Original Research

Published on 25 Apr 2025

Fetal karyotyping in adolescent pregnancies: a population-based cohort study on outcomes of invasive prenatal testing

in Human and Medical Genomics

Jakub Staniczek
Maisa Manasar-Dyrbuś
Patrycja Sodowska
Krzysztof Sodowski
Agata Włoch
Bartosz Czuba
Wojciech Cnota
Monika Paul-Samojedny
Agnieszka Kania
Henryka Sodowska

Frontiers in Genetics

doi 10.3389/fgene.2025.1581249

2,288 views

Case Report

Published on 15 Apr 2025

Genomic information in the decision-making process for the training of a high-performance brazilian swimmer: a case report

in Human and Medical Genomics

Ricardo Muller Bottura
Daniel Blasioli Dentillo

Frontiers in Genetics

doi 10.3389/fgene.2025.1544178

2,925 views
4 citations

Original Research

Published on 14 Apr 2025

Genetic variants in TMPRSS2 influence SARS-CoV-2 infection susceptibility within Mexican Mestizos

in Human and Medical Genomics

Rebeca I. Montero
Cinthia L. Dionicio
Gino Noris
Maricela Piña-Pozas
Carla Santana
Rocío Gómez

Frontiers in Genetics

doi 10.3389/fgene.2025.1558189

2,130 views

Original Research

Published on 09 Apr 2025

Effects of cold environment exposure on female reproductive health and its regulatory mechanisms

in Human and Medical Genomics

Hongyi Sun
Qianqian Zhao
Xiaolan Liang
Yalun He
Yangshuo Li
Jin Yu
Jie Ding
Chaoqin Yu

Frontiers in Genetics

doi 10.3389/fgene.2025.1570053

4,711 views
2 citations

Review

Published on 02 Apr 2025

Life destiny of erythrocyte in high altitude erythrocytosis: mechanisms underlying the progression from physiological (moderate) to pathological (excessive) high-altitude erythrocytosis

in Human and Medical Genomics

Xiaoying Zhou
Quanwei Bao
Yu Cui
Xiaoxu Li
Chengzhong Yang
Yidong Yang
Yuqi Gao
Dewei Chen
Jian Huang

Frontiers in Genetics

doi 10.3389/fgene.2025.1528935

4,301 views
3 citations

Original Research

Published on 21 Mar 2025

Assessment of physician preparedness for implementation of pathology-supported genetic testing: solution-driven post-COVID-19 survey

in Human and Medical Genomics

Elouise E. Kroon
Yolandi Swart
Chantelle J. Scott
Denise Scholtz
Daniel W. Olivier
Kelebogile E. Moremi
Chantelle Venter
Maxine Waters
Sunday O. Oladejo
Craig J. Kinnear

Frontiers in Genetics

doi 10.3389/fgene.2025.1543056

2,325 views

Original Research

Published on 19 Mar 2025

Functional analysis of a novel FBN1 deep intronic variant causing Marfan syndrome in a Chinese patient

in Human and Medical Genomics

Qingming Wang
Fang Zhang
Xinlong Zhou
Hui Li
Juan Zhao
Haiming Yuan

Frontiers in Genetics

doi 10.3389/fgene.2025.1564824

1,979 views

835 articles

articles

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

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

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

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

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

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

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

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

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

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

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

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

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

Regional patterns of genetic variants in expanded carrier screening: a next-generation sequencing pilot study in Fujian Province, China

Validation of a comprehensive long-read sequencing platform for broad clinical genetic diagnosis

Integrative analysis of DNA methylation, RNA sequencing, and genomic variants in the cancer genome atlas (TCGA) to predict endometrial cancer recurrence

Fetal karyotyping in adolescent pregnancies: a population-based cohort study on outcomes of invasive prenatal testing

Genomic information in the decision-making process for the training of a high-performance brazilian swimmer: a case report

Genetic variants in TMPRSS2 influence SARS-CoV-2 infection susceptibility within Mexican Mestizos

Effects of cold environment exposure on female reproductive health and its regulatory mechanisms

Life destiny of erythrocyte in high altitude erythrocytosis: mechanisms underlying the progression from physiological (moderate) to pathological (excessive) high-altitude erythrocytosis

Assessment of physician preparedness for implementation of pathology-supported genetic testing: solution-driven post-COVID-19 survey

Functional analysis of a novel FBN1 deep intronic variant causing Marfan syndrome in a Chinese patient