Frontiers in Genetics | Human and Medical Genomics

Original Research

Published on 12 Jun 2025

Identification of a novel AGO2 variant causing LESKRES in a Chinese family with intellectual disability

in Human and Medical Genomics

Shufa Yang
Wei Song
Yousheng Yan

Frontiers in Genetics

doi 10.3389/fgene.2025.1598462

196 views

Brief Research Report

Published on 11 Jun 2025

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

in Human and Medical Genomics

Anna G. Shestak
Victoria A. Rumyantseva
Elena V. Zaklyazminskaya

Frontiers in Genetics

doi 10.3389/fgene.2025.1571437

455 views

Review

Accepted on 09 Jun 2025

Leveraging epigenetic aberrations in the pathogenesis of endometriosis: From DNA methylation to non-coding RNAs

in Human and Medical Genomics

Hajar ERRAJI
Adil El Ghanmi
Noureddine Louanjli
Mohamed Benahmed
Mohammed Zarqaoui
Bouchra GHAZI

Frontiers in Genetics

doi 10.3389/fgene.2025.1597287

455 views

Original Research

Published on 04 Jun 2025

Genotype–phenotype analysis and functional study of three novel LRP6 variants in non-syndromic oligodontia

in Human and Medical Genomics

Yunyun Yuan
Ya Zhao
Lingqiang Meng
Shuyun Zheng
Hui Li
Jiabao Ren
Beibei Li
Chenyun Dou
Yan Hou
Wenjing Chen

Frontiers in Genetics

doi 10.3389/fgene.2025.1598907

719 views

Systematic Review

Published on 30 May 2025

Genomic insights about the effect of sodium-glucose cotransporter 2 inhibitors: a systematic review

in Human and Medical Genomics

Pavitraa Saravana Kumar
Yogapriya Chidambaram
G. Shree Devi
Vettriselvi Venkatesan
Ramesh Sankaran
Nagendra Boopathy Senguttuvan
Thanikachalam Sadagopan
Dorairaj Prabhakaran

Frontiers in Genetics

doi 10.3389/fgene.2025.1571032

882 views

Editorial

Published on 29 May 2025

Editorial: High-throughput sequencing-based investigation of chronic disease markers and mechanisms, volume II

in Human and Medical Genomics

Hua Li
Guoshuai Cai
Wen-Lian Chen
Xiaodong Zhao
Yuriy L. Orlov

Frontiers in Genetics

doi 10.3389/fgene.2025.1627976

644 views

Case Report

Published on 26 May 2025

Case Report: 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 G. Zimbru
Florina Stoica
Adela Chirita-Emandi

Frontiers in Genetics

doi 10.3389/fgene.2025.1549685

799 views

Brief Research Report

Published on 23 May 2025

Distinct germ-line genetic mutation patterns correlate with reproductive outcomes in ICSI patients: a pilot study

in Human and Medical Genomics

Ting Jiang
Yan Wang
Wandai Wu
Qianru Yang
Sixian Wu
Xueguang Zhang
Wenming Xu

Frontiers in Genetics

doi 10.3389/fgene.2025.1610943

622 views

Editorial

Published on 20 May 2025

Editorial: A year in review: discussions in human and medical genomics

in Human and Medical Genomics

Maxim B. Freidin
Jared C. Roach

Frontiers in Genetics

doi 10.3389/fgene.2025.1618183

860 views

Original Research

Published on 12 May 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

854 views

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

1,977 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

1,364 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

865 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

1,075 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

1,090 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

1,012 views