Frontiers in Genetics | Human and Medical Genomics

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

4,467 views
3 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

2,604 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

3,257 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

2,396 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

8,693 views
3 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

5,219 views
5 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

2,533 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

2,187 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

2,664 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

2,103 views
5 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

3,081 views
1 citation

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

1,795 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

3,136 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

3,797 views
2 citations

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

2,850 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

3,355 views
2 citations

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

2,341 views
3 citations

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

2,822 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

2,590 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

3,480 views

Original Research

Published on 09 Jan 2025

A family with normal sperm motility carrying a sY86 deletion in AZFa region and partial deletion in AZFc region

in Human and Medical Genomics

Yuhong Zhao
Weiwei Zhi
Dongsheng Xiong
Ningjing Li
Xinrong Du
Jiuzhi Zeng
Guohui Zhang
Weixin Liu

Frontiers in Genetics

doi 10.3389/fgene.2024.1519774

2,734 views

Original Research

Published on 24 Dec 2024

Urinary TYROBP and HCK as genetic biomarkers for non-invasive diagnosis and therapeutic targeting in IgA nephropathy

in Human and Medical Genomics

Boji Xie
Shuting Pang
Yuli Xie
Qiuyan Tan
Shanshan Li
Mujia Jili
Yian Huang
Binran Zhao
Hao Yuan
Junhao Mi

Frontiers in Genetics

doi 10.3389/fgene.2024.1516513

3,868 views
1 citation

Original Research

Published on 11 Dec 2024

Widening the infantile hypotonia with psychomotor retardation and characteristic Facies-1 Syndrome’s clinical and molecular spectrum through NALCN in-silico structural analysis

in Human and Medical Genomics

Davide Vecchio
Marina Macchiaiolo
Michaela V. Gonfiantini
Filippo M. Panfili
Francesco Petrizzelli
Niccolò Liorni
Fabiana Cortellessa
Lorenzo Sinibaldi
Ippolita Rana
Emanuele Agolini

Frontiers in Genetics

doi 10.3389/fgene.2024.1477940

3,646 views
2 citations

Original Research

Published on 10 Dec 2024

Comprehensive evaluation of AlphaMissense predictions by evidence quantification for variants of uncertain significance

in Human and Medical Genomics

Amina Kurtovic-Kozaric
Lejla Delalic
Belma Mutapcic
Lejla Comor
Eric Siciliano
Mark J. Kiel

Frontiers in Genetics

doi 10.3389/fgene.2024.1487608

5,558 views
5 citations

843 articles

articles

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

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

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

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

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

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

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

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

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

Molecular genetic analysis of Rubinstein–Taybi syndrome in Russian patients

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

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

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

A family with normal sperm motility carrying a sY86 deletion in AZFa region and partial deletion in AZFc region

Urinary TYROBP and HCK as genetic biomarkers for non-invasive diagnosis and therapeutic targeting in IgA nephropathy

Widening the infantile hypotonia with psychomotor retardation and characteristic Facies-1 Syndrome’s clinical and molecular spectrum through NALCN in-silico structural analysis

Comprehensive evaluation of AlphaMissense predictions by evidence quantification for variants of uncertain significance