Frontiers in Genetics | Human and Medical Genomics

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

Case Report

Accepted on 18 Feb 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

Original Research

Accepted on 17 Feb 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
城伟毕
Libo Yang
Yong Yang
Xin Li
ZhiYu Shi
Yuanpeng Duan

Frontiers in Genetics

doi 10.3389/fgene.2025.1521663

Review

Accepted on 17 Feb 2025

Discovery of Therapeutic Targets in Cardiovascular Diseases Using Highthroughput 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

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

182 views

Original Research

Accepted on 11 Feb 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
Scott J Chantelle
Denise Scholtz
Daniel Wilhelm Olivier
Kelebogile Moremi
Chantelle Venter
Maxine Waters
Sunday Oladejo
Craig Kinnear

Frontiers in Genetics

doi 10.3389/fgene.2025.1543056

Original Research

Accepted on 05 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

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

320 views

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

525 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

445 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

682 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

459 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

872 views

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

812 views

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

1,095 views

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

891 views

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Articles

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

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

Development and Validation of Prognostic and Diagnostic Models Utilizing Immune Checkpoint-Related Genes in Public Datasets for Clear Cell Renal Cell Carcinoma

Discovery of Therapeutic Targets in Cardiovascular Diseases Using Highthroughput Chromosome Conformation Capture (Hi-C)

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

Assessment of physician preparedness for implementation of pathology-supported genetic testing: Solution-driven post-COVID-19 survey

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

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