Frontiers in Genetics | Human and Medical Genomics

Opinion

Published on 15 Sep 2025

The potential clinical and public health implications of presymptomatic genetic testing for transthyretin amyloidosis in African American/Black adults in the United States

in Human and Medical Genomics

Inderjeet Bharaj
Simar J. Singh
Juzer Munaim
Harneet Grewal
Sonia Sabrowsky
Andrew Boshara
Marc A. Silver
Katherine H. Brendish
Paul Underwood
Sandesh Dev

Frontiers in Genetics

doi 10.3389/fgene.2025.1658636

3,276 views
1 citation

Case Report

Published on 11 Sep 2025

Shotgun metagenomics detects the human pegivirus complete genome in a pediatric patient with acute hepatitis of unknown etiology: a case report

in Human and Medical Genomics

Roberta Vazzana
Alessandra Mularoni
Claudia Vaiana
Andrea Cona
Giovanni Mulè
Caterina Amato
Giusy Ranucci
Pier Giulio Conaldi
Valentina Agnese
Nicola Cuscino

Frontiers in Genetics

doi 10.3389/fgene.2025.1653082

3,642 views
1 citation

Original Research

Published on 08 Sep 2025

Comprehensive analysis and validation of angiogenesis in vascular dementia from the perspective of diagnosis, prevention, and treatment

in Human and Medical Genomics

Lijun Xu
Yujiao Wang
Daojun Xie

Frontiers in Genetics

doi 10.3389/fgene.2025.1646991

2,944 views

Original Research

Published on 26 Aug 2025

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

in Human and Medical Genomics

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

Frontiers in Genetics

doi 10.3389/fgene.2025.1626890

2,815 views

Original Research

Published on 25 Aug 2025

A retrospective study for the diagnostic value of chromosomal microarray analysis in fetuses with high-risk prenatal indications

in Human and Medical Genomics

Hui Xiao
Junfang Xiao
Huan Zhang
Shuhui Huang
Qing Lu
Huizhen Yuan
Yongyi Zou
Bicheng Yang
Yanqiu Liu

Frontiers in Genetics

doi 10.3389/fgene.2025.1649253

2,633 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

3,492 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

3,058 views

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

2,345 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

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

2,588 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

3,447 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

2,967 views
1 citation

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

4,768 views
2 citations

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

5,898 views
2 citations

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

2,171 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

2,376 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

2,516 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

2,577 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

3,607 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

1,673 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

2,111 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

2,493 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

1,730 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

3,578 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

6,906 views
4 citations

843 articles

articles

The potential clinical and public health implications of presymptomatic genetic testing for transthyretin amyloidosis in African American/Black adults in the United States

Shotgun metagenomics detects the human pegivirus complete genome in a pediatric patient with acute hepatitis of unknown etiology: a case report

Comprehensive analysis and validation of angiogenesis in vascular dementia from the perspective of diagnosis, prevention, and treatment

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

A retrospective study for the diagnostic value of chromosomal microarray analysis in fetuses with high-risk prenatal indications

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

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

A retrospective analysis of 38,652 amniotic fluid karyotype

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