Frontiers in Genetics | Human and Medical Genomics

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

885 views

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

1,368 views

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

1,151 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

805 views

Review

Published on 13 Mar 2025

Discovery of therapeutic targets in cardiovascular diseases using high-throughput chromosome conformation capture (Hi-C)

in Human and Medical Genomics

Quan Zheng
Ying Liu
Minghao Guo
Xin Zhang
Qingbin Zhang
Xi-Yong Yu
Zhongxiao Lin

Frontiers in Genetics

doi 10.3389/fgene.2025.1515010

927 views

Editorial

Published on 11 Mar 2025

Editorial: Understanding molecular mechanisms to facilitate the development of biomarkers for therapeutic intervention in gastrointestinal diseases and sepsis

in Human and Medical Genomics

Dipak Kumar Sahoo
Romy M. Heilmann
Ashish Patel

Frontiers in Genetics

doi 10.3389/fgene.2025.1581299

1,058 views
2 citations

Case Report

Published on 06 Mar 2025

Case report: Severe arrhythmogenic cardiomyopathy in a young girl with compound heterozygous DSG2 and MYBPC3 variants with a 6-year follow-up

in Human and Medical Genomics

Ryotaro Hashizume
Hiroshi Imai
Hiroyuki Ohashi
Hirofumi Sawada
Noriko Yodoya
Ryuji Okamoto
Kaoru Dohi
Chika Kasai
Takahito Kitajima
Takumi Fujiwara

Frontiers in Genetics

doi 10.3389/fgene.2025.1545561

1,348 views

Original Research

Published on 06 Mar 2025

Chromosome 1 variants associated with decreased HIV set-point viral load correlate with PRKAB2 expression changes

in Human and Medical Genomics

Riley H. Tough
Paul J. McLaren

Frontiers in Genetics

doi 10.3389/fgene.2025.1551171

741 views

Original Research

Published on 04 Mar 2025

Development and validation of prognostic and diagnostic models utilizing immune checkpoint-related genes in public datasets for clear cell renal cell carcinoma

in Human and Medical Genomics

Bin Zhao
Shi Fu
Yuanlong Shi
Jinye Yang
Chengwei Bi
Libo Yang
Yong Yang
Xin Li
Zhiyu Shi
Yuanpeng Duan

Frontiers in Genetics

doi 10.3389/fgene.2025.1521663

1,478 views

Original Research

Published on 21 Feb 2025

Exploration of cfDNA landscape in NIPT and clinical utilities of cfDNA based gene expression inference in prenatal diagnostics

in Human and Medical Genomics

Ruo Jia
Jianjiang Zhu
Feng Zhang
Yangbo Sun
Bin Zhang
Yang Du
Hong Qi

Frontiers in Genetics

doi 10.3389/fgene.2025.1527884

1,289 views

Brief Research Report

Published on 20 Feb 2025

Calculating maternal polygenic risk scores from prenatal screening by cell-free DNA data

in Human and Medical Genomics

Victoria Corey
Mauro Chavez
Layla Qasim
Tevfik U. Dincer
Angela Henry
Salome Bagayan
Sasha Treadup
Mike Mehan
Eileen de Feo
Sung Kim

Frontiers in Genetics

doi 10.3389/fgene.2025.1495604

1,285 views

Original Research

Published on 17 Feb 2025

Exploration and verification of circulating diagnostic biomarkers in osteoarthritis based on machine learning

in Human and Medical Genomics

Xinyu Wang
Tianyi Liu
Yueyang Sheng
Cheng Qiu
Yanzhuo Zhang
Yanqun Liu
Chengai Wu

Frontiers in Genetics

doi 10.3389/fgene.2025.1513675

1,311 views

Original Research

Published on 31 Jan 2025

Molecular genetic analysis of Rubinstein–Taybi syndrome in Russian patients

in Human and Medical Genomics

Olga R. Ismagilova
Tagui A. Adyan
Tatiana S. Beskorovainaya
Alexander V. Polyakov

Frontiers in Genetics

doi 10.3389/fgene.2025.1516565

979 views
1 citation

Case Report

Published on 20 Jan 2025

Tell me y: anticipation of sex discrepancies in cell-free DNA testing due to maternal genetic abnormalities: a case report

in Human and Medical Genomics

Nuria Balaguer
Emilia Mateu-Brull
Jose Antonio Martínez-Conejero
Ana Cervero
Roser Navarro
Jorge Jiménez-Almazán
Miguel Milán

Frontiers in Genetics

doi 10.3389/fgene.2024.1502287

1,190 views

Original Research

Published on 13 Jan 2025

Uncovering somatic mosaic variants of PIK3CA-related overgrowth disorders – three cases with different clinical presentations

in Human and Medical Genomics

M. Tooming
P. Mertsina
T. Kahre
R. Teek
I. Vainumäe
S. Lilles
M. H. Wojcik
P. Ilves
K. Õunap

Frontiers in Genetics

doi 10.3389/fgene.2024.1484651

1,066 views

Original Research

Published on 10 Jan 2025

Comprehensive analysis of ferroptosis-related genes reveals potential therapeutic targets in osteoporosis patients: a computational analysis and in vitro experiments

in Human and Medical Genomics

Sihui Chen
Yi Jiang
Guoqin Xie
Peng Wu
Jinyu Zhu

Frontiers in Genetics

doi 10.3389/fgene.2024.1522809

1,503 views