Frontiers in Genetics | Human and Medical Genomics

Case Report

Published on 17 Feb 2026

Case Report: Expanding the diagnostic spectrum of non-invasive prenatal testing to structural chromosomal abnormalities

in Human and Medical Genomics

Jong Chul Kim
Hyunjin Kim
HeeYeon Jang
Minyeon Go
Ji Eun Park
Chang Soo Ryu
Mi Uk Chin
Eun Hye Kim
Young Jin Lee
Sung Han Shim

Frontiers in Genetics

doi 10.3389/fgene.2026.1746287

431 views

Mini Review

Published on 13 Feb 2026

Recent advances in the detection technologies for balanced chromosomal rearrangements

in Human and Medical Genomics

Meng Gao
Jun Ren
Shanling Liu

Frontiers in Genetics

doi 10.3389/fgene.2026.1763846

813 views

Brief Research Report

Published on 13 Feb 2026

Differential genome-wide association analysis of schizophrenia and post-traumatic stress disorder identifies opposing effects at the MAPT/CRHR1 locus

in Human and Medical Genomics

Zhong‐shan Cheng

Frontiers in Genetics

doi 10.3389/fgene.2026.1728494

418 views

Original Research

Published on 12 Feb 2026

Circ-104792/miR-133a/Bcl-xL influences the proliferation and function of human trophoblastic and decidual stromal cells involved in recurrent abortion disease

in Human and Medical Genomics

Wenjuan Ma
Yuan Ma
Hongli Zhu
Panpan Shi
Xiaochun Huang
Yang Yang

Frontiers in Genetics

doi 10.3389/fgene.2026.1707900

555 views

Original Research

Published on 06 Feb 2026

Alterations in gut microbiota and plasma metabolites in pulmonary arterial hypertension secondary to congenital left-to-right shunt heart disease: potential mechanisms and biomarkers

in Human and Medical Genomics

Diwen Li
Tianli Zhao
Xueyang Gong
Yiliya Ahemaiti
Luyao Wei
Yuyang Huang
Shijun Hu

Frontiers in Genetics

doi 10.3389/fgene.2026.1699787

636 views

Editorial

Published on 06 Feb 2026

Editorial: Genetic horizons: exploring genetic biomarkers in therapy and evolution with the aid of artificial intelligence

in Human and Medical Genomics

Yiting Chen
Yiyin Zhang
Georgia Damoraki
Shu Wang

Frontiers in Genetics

doi 10.3389/fgene.2026.1775149

682 views

Original Research

Accepted on 05 Feb 2026

Severity-stratified genetic diagnosis by trio exome sequencing in isolated fetal growth restriction

in Human and Medical Genomics

Ying Li
Weiheng Deng
Minghui Meng
Xiaomin Lu
Mei Guan
Haitang Wei
Xigui Long
Ting Qin

Frontiers in Genetics

120 views

Brief Research Report

Published on 23 Jan 2026

Referral route: a determinant of inequity for children with undiagnosed genetic diseases?

in Human and Medical Genomics

Zeyu Tang
Emily K. Mis
Saquib A. Lakhani

Frontiers in Genetics

doi 10.3389/fgene.2026.1692489

653 views

Review

Published on 20 Jan 2026

Diabetic kidney disease: integrating multi-omics insights, artificial intelligence, and novel therapeutics for precision medicine

in Human and Medical Genomics

Tao Li
Kaili Chen
Yiting Sun
Linqi Zhang

Frontiers in Genetics

doi 10.3389/fgene.2026.1760654

1,418 views

Systematic Review

Published on 20 Jan 2026

A systematic review on the generative AI applications in human medical genetics

in Human and Medical Genomics

Anton Changalidis
Yury Barbitoff
Yulia Nasykhova
Andrey Glotov

Frontiers in Genetics

doi 10.3389/fgene.2025.1694070

2,488 views

Case Report

Published on 08 Jan 2026

Case Report: Dual pathogenic mechanism of a PRKG2 missense variant underlies an attenuated phenotype of acromesomelic dysplasia

in Human and Medical Genomics

Daria Akimova
Tatiana Markova
Maria Orlova
Vladimir Kenis
Mikhail Skoblov

Frontiers in Genetics

doi 10.3389/fgene.2025.1708985

955 views

Original Research

Published on 05 Jan 2026

Integration of chromosomal microarray analysis and whole-exome sequencing for prenatal diagnosis of fetuses with cardiac ultrasound anomalies

in Human and Medical Genomics

Youlan Wu
Gui Chen
Fang Yang
Xiang Liu
Yawen Qiang
Renhua Wu
Fang Liu
Weisheng Cheng
Jing Yuan

Frontiers in Genetics

doi 10.3389/fgene.2025.1668252

1,209 views

Original Research

Published on 18 Dec 2025

Copy number variants in fetuses with isolated and non-isolated increased nuchal translucency detected by chromosomal microarray analysis

in Human and Medical Genomics

Shuxian Huang
Heming Wu
Lingna She
Lina Liu

Frontiers in Genetics

doi 10.3389/fgene.2025.1712025

1,216 views

Case Report

Published on 18 Dec 2025

Case Report: Minigene assays reveal a novel DNAAF6 intronic variant as the key etiology for primary ciliary dyskinesia

in Human and Medical Genomics

Yupeng Long
Huixian Li
Haoyue Yu
Qian Yi
Xiong Meng
Xi Wang
Qinqin Ren
Dongyan Ding
Haidong Li
Fenglan Zhang

Frontiers in Genetics

doi 10.3389/fgene.2025.1692658

1,667 views

Original Research

Published on 18 Dec 2025

Post-translational modification gene signatures implicate FBXW7 in immune and vascular dysregulation of Moyamoya disease

in Human and Medical Genomics

Xiaofan Yu
Zicong Wang
Zhenyu Zhou
Yutong Liu
Shihao He
Yuanli Zhao

Frontiers in Genetics

doi 10.3389/fgene.2025.1723233

1,550 views

Case Report

Published on 01 Dec 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

doi 10.3389/fgene.2025.1669849

1,425 views

Original Research

Published on 20 Nov 2025

Benign mosaic chromosomal structural variants across generations: evidence for a developmental correction mechanism from clinical and computational models

in Human and Medical Genomics

Jiayu Ruan
Qinhao Song
Yue Hu
Xiaodan Liu
Suping Li
Jianjun Zhu
Li Yang

Frontiers in Genetics

doi 10.3389/fgene.2025.1710280

1,297 views
1 citation

Review

Published on 11 Nov 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

doi 10.3389/fgene.2025.1683167

2,798 views

Case Report

Published on 27 Oct 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

doi 10.3389/fgene.2025.1661743

1,800 views

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

1,739 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

4,105 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

1,759 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

3,211 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

5,546 views
1 citation

843 articles

articles

Case Report: Expanding the diagnostic spectrum of non-invasive prenatal testing to structural chromosomal abnormalities

Recent advances in the detection technologies for balanced chromosomal rearrangements

Differential genome-wide association analysis of schizophrenia and post-traumatic stress disorder identifies opposing effects at the MAPT/CRHR1 locus

Circ-104792/miR-133a/Bcl-xL influences the proliferation and function of human trophoblastic and decidual stromal cells involved in recurrent abortion disease

Alterations in gut microbiota and plasma metabolites in pulmonary arterial hypertension secondary to congenital left-to-right shunt heart disease: potential mechanisms and biomarkers

Editorial: Genetic horizons: exploring genetic biomarkers in therapy and evolution with the aid of artificial intelligence

Severity-stratified genetic diagnosis by trio exome sequencing in isolated fetal growth restriction

Referral route: a determinant of inequity for children with undiagnosed genetic diseases?

Diabetic kidney disease: integrating multi-omics insights, artificial intelligence, and novel therapeutics for precision medicine

A systematic review on the generative AI applications in human medical genetics

Case Report: Dual pathogenic mechanism of a PRKG2 missense variant underlies an attenuated phenotype of acromesomelic dysplasia

Integration of chromosomal microarray analysis and whole-exome sequencing for prenatal diagnosis of fetuses with cardiac ultrasound anomalies

Copy number variants in fetuses with isolated and non-isolated increased nuchal translucency detected by chromosomal microarray analysis

Case Report: Minigene assays reveal a novel DNAAF6 intronic variant as the key etiology for primary ciliary dyskinesia

Post-translational modification gene signatures implicate FBXW7 in immune and vascular dysregulation of Moyamoya disease

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

Benign mosaic chromosomal structural variants across generations: evidence for a developmental correction mechanism from clinical and computational models

Ocular surface health and disease: insight from single-cell RNA sequencing

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

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

Editorial: Application of next-generation sequencing in clinical settings

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

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

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