Frontiers in Genetics | Human and Medical Genomics

Original Research

Published on 02 May 2025

Validation of a comprehensive long-read sequencing platform for broad clinical genetic diagnosis

in Human and Medical Genomics

Siddhartha Sen
Hillary P. Handler
Alec Victorsen
Zach Flaten
Aidan Ellison
Todd P. Knutson
Sarah A. Munro
Ryan J. Martinez
Charles John Billington
Jennifer J. Laffin

Frontiers in Genetics

doi 10.3389/fgene.2025.1499456

651 views

Brief Research Report

Accepted on 30 Apr 2025

Allelic dropout in the endoglin (ENG) gene caused by common duplication beyond the primer binding site

in Human and Medical Genomics

Anna Shestak
Victoria Rumyantseva
Elena Zaklyazminskaya

Frontiers in Genetics

doi 10.3389/fgene.2025.1571437

109 views

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

410 views

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

525 views

Case Report

Accepted on 21 Apr 2025

A neurodevelopmental disorder with global developmental delay, microcephaly, eye anomalies, sweat dysregulation and skeletal implications due to an ultra-rare de novo 5q14.3q15 copy number gain

in Human and Medical Genomics

Costela Lacrimioara Serban
ALEXANDRA MIHAILESCU
Diana Miclea
Cristian ZIMBRU
Florina Stoica
Adela Chirita-Emandi

Frontiers in Genetics

doi 10.3389/fgene.2025.1549685

144 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

655 views

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

840 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

586 views

Original Research

Accepted on 03 Apr 2025

Regional Patterns of Genetic Variants in Expanded Carrier Screening: A Next-Generation Sequencing Pilot Study in Fujian Province, China

in Human and Medical Genomics

Danhua Guo
Nani Zhou
Qianqian He
Na Lin
Shuqiong He
Deqin He
Yifang Dai
Ying Li
Xuemei Chen
Hailong Huang

Frontiers in Genetics

doi 10.3389/fgene.2025.1527228

141 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

919 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

960 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

605 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

689 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

905 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

1,100 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

596 views