Frontiers in Genetics

Original Research

Published on 05 Dec 2025

Optical genome mapping uncovers clinically relevant structural variants in congenital heart disease with heterotaxy

in Genetics of Common and Rare Diseases

Shaojie Min
Jingwei Sun
Weicheng Chen
Zhiyu Feng
Quannan Zhuang
Yuan Gao
Siyi Lin
Siyu Sun
Yuquan Lu
Shuolin Li

Frontiers in Genetics

doi 10.3389/fgene.2025.1673539

909 views

Case Report

Accepted on 04 Dec 2025

Genotype–Phenotype Correlations in FLNA Mutations: Insights from a Case of Multisystem Dysfunction

in Genetics of Common and Rare Diseases

Jie Liu
Xin Pan
Lina Qiao
Yi Liao
Zhongqiang Liu

Frontiers in Genetics

175 views

Original Research

Published on 04 Dec 2025

Integrating GWAS and machine learning for disease risk prediction in the Taiwanese Hakka population

in Computational Genomics

Jing-Hong Xiao
Hsiao-Yen Kang
Li-Ching Wu
Tien Hsu
Chin-Pyng Wu
Li-Jen Su

Frontiers in Genetics

doi 10.3389/fgene.2025.1694084

1,218 views

Original Research

Published on 04 Dec 2025

Development of a prognostic model related to mitochondria and programmed cell death-related genes in bladder cancer

in Cancer Genetics and Oncogenomics

Xuwei Zhao
Hongyao Liu
Chao Wang
Fuyu Guo
Bin Yang

Frontiers in Genetics

doi 10.3389/fgene.2025.1615167

1,052 views

Original Research

Published on 03 Dec 2025

Perspectives of parents receiving normal results from genomic newborn screening: a mixed-methods evaluation from the early check program

in ELSI in Science and Genetics

Angela Y. Gwaltney
Sean N. Halpin
Samantha Scott
Sara M. Andrews
Katherine C. Okoniewski
Heidi L. Cope
Melissa Raspa
Curt Scharfe
Holly Peay

Frontiers in Genetics

doi 10.3389/fgene.2025.1704364

1,269 views

Original Research

Accepted on 02 Dec 2025

Expanding the Mutational Spectrum of Congenital Microcephaly in Pakistani Families

in Genetics of Common and Rare Diseases

Sundas Farooq
Maria Asif
Bonsu Ku
Madiha Shadab
Muzammil Ahmed Khan
Muhammad Muzammal
Raja Waqar
Rameez Nisar
Zahid Latif
Falak Sher Khan

Frontiers in Genetics

366 views

Review

Accepted on 02 Dec 2025

The power and the promise of epigenetic drugs in oncology

in Pharmacogenetics and Pharmacogenomics

Thalita Basso Scandolara
Isabelle Vasconcelos Menegoy Siqueira
Luis Felipe Ribeiro Pinto
Sheila Coelho Soares Lima

Frontiers in Genetics

184 views

Original Research

Accepted on 01 Dec 2025

Conditional Trust as a Driver of Public Engagement in Korea's National Project of Bio-Big Data

in ELSI in Science and Genetics

Jae Sun Kim
Seohyun Kim
Chaeyeon Lee
Wonoh Jeong
Huiwon No
Sungsoo Lim
Yul Jung
Ilhak Lee
Kwangmo Yang

Frontiers in Genetics

239 views

Case Report

Accepted on 01 Dec 2025

Familial Multiple Fetal Cerebral Arteriovenous Malformations: A Case Report of Maternal Genetic Susceptibility and Fetal Manifestation

in Genetics of Common and Rare Diseases

Hao Wang
Yan Jiang
Yanlin Chen
Gongli Chen

Frontiers in Genetics

109 views

Correction

Published on 01 Dec 2025

Correction: MAPT mutation-induced behavioral variant frontotemporal dementia in an Asian patient: a multimodal biomarker case report resolving diagnostic challenges with Alzheimer’s disease

in Genetics of Common and Rare Diseases

Yan Zhang
Siwei Chen
Guiying Yan
Zhifei Zhang
Amina
Ting Wang
Shuang Wang
Chen Zhang
Yong’an Sun

Frontiers in Genetics

doi 10.3389/fgene.2025.1749030

883 views

Original Research

Published on 01 Dec 2025

FusDRM-m5C: a hybrid model for accurate prediction of 5-methylcytosine modification sites based on feature fusion and attention mechanism

in Epigenomics and Epigenetics

Hui Huang
Fenglin Zhou
Jianhua Jia

Frontiers in Genetics

doi 10.3389/fgene.2025.1642286

1,008 views

Original Research

Published on 01 Dec 2025

Bulk RNA-seq deconvolution heterogeneity across paired pancreatic cancer human samples

in Cancer Genetics and Oncogenomics

Rick J. Jansen
Sarah A. Munro
Samuel O. Antwi
Kari G. Rabe
Hugues Sicotte

Frontiers in Genetics

doi 10.3389/fgene.2025.1662924

1,128 views

Case Report

Published on 01 Dec 2025

Case Report: Pitfalls in CF screening – targeted variant analysis can cause misleading results and therapy recommendations

in Pharmacogenetics and Pharmacogenomics

Maike Karnstedt
Simone Ahting
Sophie Behrendt
Maike vom Hove
Julia Hentschel

Frontiers in Genetics

doi 10.3389/fgene.2025.1693573

968 views

Case Report

Published on 01 Dec 2025

Case Report: Novel mutations in two patients with MED13L-related intellectual disability highlighting the importance of genetic counseling

in Human and Medical Genomics

Hanyu Cao
Tiantian He
Jing Wang
Cong Zhou
Xing Wei
Xuemei Zhang

Frontiers in Genetics

doi 10.3389/fgene.2025.1669849

990 views

Original Research

Published on 01 Dec 2025

Potential prognostic biomarkers in restenosis of peripheral arteries identified through comprehensive ceRNA network analysis

in Computational Genomics

Yulin Miao
Zongxin Li
Qianqian Sun
Gang Zhao
Guohang Shen
Haobo Zhang
Fengli Gao

Frontiers in Genetics

doi 10.3389/fgene.2025.1597644

1,181 views

Correction

Published on 01 Dec 2025

Correction: Individual and combined effects of the GSTM1, GSTT1, and GSTP1 polymorphisms on type 2 diabetes mellitus risk: a systematic review and meta-analysis

in Genetics of Common and Rare Diseases

Liang-shu Liu
Di Wang
Ru Tang
Qi Wang
Lu Zheng
Jian Wei
Yan Li
Xiao-feng He

Frontiers in Genetics

doi 10.3389/fgene.2025.1749934

897 views

Correction

Published on 01 Dec 2025

Correction: Computational models for pan-cancer classification based on multi-omics data

in Cancer Genetics and Oncogenomics

Jianlin Wang
Jiao Zhang
Xuebing Dai
Chaokun Yan
Caili Fang

Frontiers in Genetics

doi 10.3389/fgene.2025.1743847

690 views

Original Research

Accepted on 30 Nov 2025

An intronic micro-deletion impacts the transcription and translation of PKD1 gene

in Genetics of Common and Rare Diseases

Xinli Xing
Wei Zheng
Xuejing Sun
Na Wei

Frontiers in Genetics

106 views

Case Report

Published on 28 Nov 2025

Type 1 Bartter syndrome presenting as primary diabetes insipidus: a rare Case Report with 8-year follow-up

in Genetics of Common and Rare Diseases

Huijuan Lu
Shaojun Liu
Jia Sun
Lijun Mou

Frontiers in Genetics

doi 10.3389/fgene.2025.1672214

963 views

Original Research

Accepted on 27 Nov 2025

Salmonella enterica serovar Typhimurium induced alteration of inflammatory Chemokine mRNA expression and haemato-biochemical variations in three different breeds/strains of chicken

in Livestock Genomics

Shabir Mir
Nazir A Ganai
Syed M Ahmad
Ishraq Hussain
Gowhar G Sheikh
Nusrat Nabi
Hassan Rudayni
Ahmed A Allam

Frontiers in Genetics

214 views

Case Report

Published on 27 Nov 2025

Case Report: developmental delay and intellectual disability linked to a maternally inherited derivative chromosome 3 from a t(3;8) translocation

in Genetics of Common and Rare Diseases

Andrés León
Alex S. Aguirre
Anna Lindstrand
Marlene Ek
Vanessa I. Romero

Frontiers in Genetics

doi 10.3389/fgene.2025.1662915

1,049 views

Original Research

Published on 27 Nov 2025

Development of a senescence-related lncRNA signature in endometrial cancer based on multiple machine learning models

in Cancer Genetics and Oncogenomics

Jie Lin
Xuemei Lei
Yanhong Li
Xin Jiang
Fengle Jiang
Aihua Guo
Xintong Cai
Xingming Ye
Yang Sun

Frontiers in Genetics

doi 10.3389/fgene.2025.1687922

1,254 views

Review

Published on 27 Nov 2025

Biogenesis and function of circular RNAs and their implications in the Down syndrome brain

in RNA

Shahidee Zainal Abidin
Nurul Nadirah Razali
Pike-See Cheah
King-Hwa Ling

Frontiers in Genetics

doi 10.3389/fgene.2025.1708015

1,136 views

Correction

Published on 27 Nov 2025

Correction: Validation of a genome-wide polygenic score for body mass index in South Asians

in Genetics of Common and Rare Diseases

Ramesh Menon
Nikhat Khan
Sandeep Charugulla
Akshi Bassi
Pooja Dangare
Akshay Dedaniya
Aakanksha Pant
Rammurthy Anjanappa
Praveena L. Samson
Uthra Satagopan

Frontiers in Genetics

doi 10.3389/fgene.2025.1708353

1,211 views

16,451 articles

articles

Optical genome mapping uncovers clinically relevant structural variants in congenital heart disease with heterotaxy

Genotype–Phenotype Correlations in FLNA Mutations: Insights from a Case of Multisystem Dysfunction

Integrating GWAS and machine learning for disease risk prediction in the Taiwanese Hakka population

Development of a prognostic model related to mitochondria and programmed cell death-related genes in bladder cancer

Perspectives of parents receiving normal results from genomic newborn screening: a mixed-methods evaluation from the early check program

Expanding the Mutational Spectrum of Congenital Microcephaly in Pakistani Families

The power and the promise of epigenetic drugs in oncology

Conditional Trust as a Driver of Public Engagement in Korea's National Project of Bio-Big Data

Familial Multiple Fetal Cerebral Arteriovenous Malformations: A Case Report of Maternal Genetic Susceptibility and Fetal Manifestation

Correction: MAPT mutation-induced behavioral variant frontotemporal dementia in an Asian patient: a multimodal biomarker case report resolving diagnostic challenges with Alzheimer’s disease

FusDRM-m5C: a hybrid model for accurate prediction of 5-methylcytosine modification sites based on feature fusion and attention mechanism

Bulk RNA-seq deconvolution heterogeneity across paired pancreatic cancer human samples

Case Report: Pitfalls in CF screening – targeted variant analysis can cause misleading results and therapy recommendations

Case Report: Novel mutations in two patients with MED13L-related intellectual disability highlighting the importance of genetic counseling

Potential prognostic biomarkers in restenosis of peripheral arteries identified through comprehensive ceRNA network analysis

Correction: Individual and combined effects of the GSTM1, GSTT1, and GSTP1 polymorphisms on type 2 diabetes mellitus risk: a systematic review and meta-analysis

Correction: Computational models for pan-cancer classification based on multi-omics data

An intronic micro-deletion impacts the transcription and translation of PKD1 gene

Type 1 Bartter syndrome presenting as primary diabetes insipidus: a rare Case Report with 8-year follow-up

Salmonella enterica serovar Typhimurium induced alteration of inflammatory Chemokine mRNA expression and haemato-biochemical variations in three different breeds/strains of chicken

Case Report: developmental delay and intellectual disability linked to a maternally inherited derivative chromosome 3 from a t(3;8) translocation

Development of a senescence-related lncRNA signature in endometrial cancer based on multiple machine learning models

Biogenesis and function of circular RNAs and their implications in the Down syndrome brain

Correction: Validation of a genome-wide polygenic score for body mass index in South Asians