Frontiers in Genetics | Human and Medical Genomics

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

2,371 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

1,918 views
4 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

2,839 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

1,626 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

2,923 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

3,405 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

2,586 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

3,045 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

2,162 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

2,575 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

2,312 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

3,186 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

2,445 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

3,591 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

3,274 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

4,810 views
3 citations

Editorial

Published on 05 Dec 2024

Editorial: CRISPR: the game changer in gene and cell therapy

in Human and Medical Genomics

Wenxia He
Meizhu Bai

Frontiers in Genetics

doi 10.3389/fgene.2024.1517298

2,533 views

Case Report

Published on 04 Dec 2024

Case report: A novel nonsense mutation in the MARVELD2 gene causes nonsyndromic hearing loss in a China family

in Human and Medical Genomics

Chuican Huang
Zhenning Huang
Ping Wang
Xijing Wu
Qiaomiao Zhou
Jun Ding
Qing Luo
Weijia Wu
Xialin Fan
Lichun Fan

Frontiers in Genetics

doi 10.3389/fgene.2024.1507600

1,577 views

Systematic Review

Published on 29 Nov 2024

Consumer-oriented (patient and family) outcomes from nursing in genomics: a scoping review of the literature (2012–2022)

in Human and Medical Genomics

Jordan N. Keels
Joanne Thomas
Kathleen A. Calzone
Laurie Badzek
Sarah Dewell
Vinaya Murthy
Rosie O’Shea
Emma T. Tonkin
Andrew A. Dwyer

Frontiers in Genetics

doi 10.3389/fgene.2024.1481948

4,677 views
2 citations

Editorial

Published on 20 Nov 2024

Editorial: Diagnosis and identification of novel disorders and ultra-rare disorders in science and clinical routine

in Human and Medical Genomics

Hacer Durmus

Frontiers in Genetics

doi 10.3389/fgene.2024.1522931

956 views

Original Research

Published on 20 Nov 2024

Comparative study of the three-dimensional genomes of granulosa cells in germinal vesicle and metaphase II follicles

in Human and Medical Genomics

Rurong Mao
Zhongkun Cai
Tao Wang
Yan Li
Shilin Tian
Diyan Li
Penghao Li

Frontiers in Genetics

doi 10.3389/fgene.2024.1480153

2,073 views
1 citation

Editorial

Published on 06 Nov 2024

Editorial: Biomarkers and mechanisms of gastrointestinal diseases

in Human and Medical Genomics

Zerrin Isik
Gizem Calibasi-Kocal
Omer Yilmaz

Frontiers in Genetics

doi 10.3389/fgene.2024.1516063

1,556 views

Case Report

Published on 01 Nov 2024

Case report: Rethinking NGS analysis in diagnosing Diamond-Blackfan anemia syndrome

in Human and Medical Genomics

Panayiota L. Papasavva
Konstantinos Kaouranis
Stefania Byrou
Constantina G. Constantinou
Iacovou Efrosini
Marina Kleanthous
Carsten W. Lederer
Thessalia Papasavva

Frontiers in Genetics

doi 10.3389/fgene.2024.1459291

2,388 views

Original Research

Published on 23 Oct 2024

Identification of novel 3D-genome altering and complex structural variants underlying retinitis pigmentosa type 17 through a multistep and high-throughput approach

in Human and Medical Genomics

Suzanne E. de Bruijn
Daan M. Panneman
Nicole Weisschuh
Elizabeth L. Cadena
Erica G. M. Boonen
Lara K. Holtes
Galuh D. N. Astuti
Frans P. M. Cremers
Nico Leijsten
Jordi Corominas

Frontiers in Genetics

doi 10.3389/fgene.2024.1469686

3,747 views
2 citations

835 articles

articles

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

Editorial: CRISPR: the game changer in gene and cell therapy

Case report: A novel nonsense mutation in the MARVELD2 gene causes nonsyndromic hearing loss in a China family

Consumer-oriented (patient and family) outcomes from nursing in genomics: a scoping review of the literature (2012–2022)

Editorial: Diagnosis and identification of novel disorders and ultra-rare disorders in science and clinical routine

Comparative study of the three-dimensional genomes of granulosa cells in germinal vesicle and metaphase II follicles

Editorial: Biomarkers and mechanisms of gastrointestinal diseases

Case report: Rethinking NGS analysis in diagnosing Diamond-Blackfan anemia syndrome

Identification of novel 3D-genome altering and complex structural variants underlying retinitis pigmentosa type 17 through a multistep and high-throughput approach