Frontiers in Genetics | Human and Medical Genomics

Case Report

Published on 24 Oct 2025

Case Report: Adenylosuccinate lyase deficiency type I caused by splicing disruption due to a novel missense variant in the ADSL gene

in Human and Medical Genomics

Artem Borovikov
Ksenia Davydenko
Aysylu Murtazina
Artem Sharkov
Ilya Kanivets
Alexandra Filatova
Mikhail Skoblov

Frontiers in Genetics

doi 10.3389/fgene.2025.1670299

390 views

Case Report

Accepted on 14 Oct 2025

Case Report: Novel mutations in two patients with MED13L-related intellectual disability highlighting the importance of genetic counseling

in Human and Medical Genomics

Hanyu Cao
Tiantian He
Jing Wang
Cong Zhou
Xing Wei
XUEMEI ZHANG

Frontiers in Genetics

145 views

Editorial

Published on 09 Oct 2025

Editorial: Application of next-generation sequencing in clinical settings

in Human and Medical Genomics

Zhi Chai
Han Mei
Quan Li
Iram Maqsood
Jingxian Cai
Marilyn M. Li
Feng Xu
Xiaonan Zhao

Frontiers in Genetics

doi 10.3389/fgene.2025.1700975

1,503 views

Review

Accepted on 08 Oct 2025

Ocular Surface Health and Disease: Insight from Single-cell RNA Sequencing

in Human and Medical Genomics

Shangkun Ou
Minqing Cai
Yuchong Feng
Sijie Lin
Xueer Zheng
Su Zhao
Hao Gu
Yiming Wu

Frontiers in Genetics

235 views

Data Report

Published on 08 Oct 2025

Catalogue of mitotic chromosome-associated small RNAs in mouse 3T3 cell line

in Human and Medical Genomics

Bishan Ye
Yicong Meng
Le Zhang
Yongzhuo Deng
Xuesong Zheng
Yihang Shen
Xinhui Li
Hua Li

Frontiers in Genetics

doi 10.3389/fgene.2025.1559795

914 views

Case Report

Accepted on 30 Sep 2025

Prenatal diagnosis of a de novo pathogenic HNRNPK variant in a Chinese fetus with abnormal ultrasound soft markers: A case report

in Human and Medical Genomics

Yuying Zhu
Zhen Yang
Qiumin Zhu
Ke Wu
Junying He
Hongmei Zhou

Frontiers in Genetics

278 views

Original Research

Published on 19 Sep 2025

Deciphering the shared genetic structure between hip osteoarthritis and femoral neck bone mineral density

in Human and Medical Genomics

Jianguo Zhou
Junfu Na
Zongkun Jiang
Xiaoyan Dou
Shixuan Wang
Hongtao Li
Jian Kang

Frontiers in Genetics

doi 10.3389/fgene.2025.1597005

2,069 views

Review

Published on 19 Sep 2025

Beyond single references: pangenome graphs and the future of genomic medicine

in Human and Medical Genomics

Denis M. Nyaga
Roan E. Zaied
Olin K. Silander
Michael A. Black
Justin M. O’Sullivan

Frontiers in Genetics

doi 10.3389/fgene.2025.1679660

3,001 views

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

2,736 views

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

2,596 views

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

1,706 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

2,209 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

1,524 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

2,729 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

2,005 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

1,491 views