Frontiers in Genetics | Genetics of Common and Rare Diseases

Original Research

Accepted on 11 Jul 2025

Exploration of potential biomarkers and immune cell infiltration characteristics for peripheral atherosclerosis in sjögren's syndrome based on comprehensive bioinformatics analysis and machine learning

in Genetics of Common and Rare Diseases

Chunjiang Liu
Yuan Wang
Lina Zhou
Feifei Cai
Xiaoqi Tang
Liying Wang
Xiang Zhang

Frontiers in Genetics

doi 10.3389/fgene.2025.1546315

Original Research

Published on 11 Jul 2025

Two novel cases with PIGQ-CDG: expansion of the genotype–phenotype spectrum and evaluation of GestaltMatcher as a diagnostic tool

in Genetics of Common and Rare Diseases

Katarína Kušíková
Tzung-Chien Hsieh
Mateja Pfeifer
Christine Fauth
Yoshiko Murakami
Franco Laccone
Daniela Karall
Walter Bonfig
Helen Stewart
Denisa Weis

Frontiers in Genetics

doi 10.3389/fgene.2025.1598602

510 views

Case Report

Accepted on 10 Jul 2025

Case report: Novel ATP13A2 pathogenic variants associated with early-onset parkinsonism and a mini-review

in Genetics of Common and Rare Diseases

Leonardo Affronte
Antonella Pini
Pizzoli Claudia
Emanuele Coccia
Serena Mazzone
Arber Golemi
Melania Giannotta
Duccio Maria Cordelli
Valerio Carelli
Alessandro Vaisfeld

Frontiers in Genetics

doi 10.3389/fgene.2025.1588812

143 views

Case Report

Accepted on 10 Jul 2025

Ultrasound combined with molecular genetics to diagnose hereditary Renpenning syndrome in early pregnancy: a case report

in Genetics of Common and Rare Diseases

Yongmei Shen
Lei Zhang
Yaqi Li
Liying Yao
Jiasong Cao
Qimei Lin
Maolin Nie
Hefei Wang
Rongxin Wei
Ying Chang

Frontiers in Genetics

doi 10.3389/fgene.2025.1575378

201 views

Case Report

Accepted on 10 Jul 2025

Identification of a novel, pathogenic CREBBP variant in a patient with Menke-Hennekam Syndrome: a case report

in Genetics of Common and Rare Diseases

Anna Μaria Anastasiou
Constantia Aristidou
Athina Theodosiou
Ludmila Kousoulidou
Ioannis Papaveripidou
Angelos Alexandrou
Paola Evangelidou
Carolina Sismani
George Tanteles
Despina Sanoudou

Frontiers in Genetics

doi 10.3389/fgene.2025.1585453

124 views

Original Research

Accepted on 10 Jul 2025

Development and validation of a machine-learning-based model for identification of genes associated with sepsis-associated acute kidney injury

in Genetics of Common and Rare Diseases

Chen Lin
Meng Zheng
Wensi Wu
Zhishan Wang
Guofeng Lu
Shaodan Feng
Xinlan Zhang

Frontiers in Genetics

doi 10.3389/fgene.2025.1561331

Case Report

Published on 09 Jul 2025

Case Report: The nonsense variation of the cardiac transcription factor NKX2-5 has been identified in a Chinese family with nonsyndromic congenital heart disease

in Genetics of Common and Rare Diseases

Haixia Zhang
Jing Chen
He Wang
Qinqin Xiang
Shanling Liu

Frontiers in Genetics

doi 10.3389/fgene.2025.1498144

321 views

Correction

Published on 08 Jul 2025

Correction: A non-invasive method for screening mitochondrial diabetes

in Genetics of Common and Rare Diseases

Hangyu Fang
Xiaoe Li
Shuping Wang
Mei Zhang
Victor Wei Zhang
Chao Xu

Frontiers in Genetics

doi 10.3389/fgene.2025.1645252

390 views

Original Research

Published on 08 Jul 2025

Identification of variants in SWI/SNF complex genes associated with neurodevelopmental disorders

in Genetics of Common and Rare Diseases

Chen Liang
Haihong Shi
Yanjuan Chen
Xia Wang
Jieyuan Jin
Liqun Su
Lijun Tang
Huihong Li
Fei Ling
Haoxian Li

Frontiers in Genetics

doi 10.3389/fgene.2025.1511796

406 views

Original Research

Published on 08 Jul 2025

Development and validation of mPCR-CEFA for detecting multiple deletion and non-deletion thalassemia genotypes

in Genetics of Common and Rare Diseases

Jingping Xu
Baoyan Ren
Qixun Fang
Kangfeng Lin
Xingan Xing
Jingting Lin

Frontiers in Genetics

doi 10.3389/fgene.2025.1564565

352 views

Case Report

Accepted on 07 Jul 2025

Pediatric CNS-isolated Hemophagocytic Lymphohistiocytosis Secondary to Uniparental Disomy of PRF1 Mutation

in Genetics of Common and Rare Diseases

Jiao Xue
Zhenfeng Song
Hongshan Zhao
Chengqing Yang
Fei Li
Zhi Yi
Kaixuan Liu
Ying Zhang

Frontiers in Genetics

doi 10.3389/fgene.2025.1528844

119 views

Original Research

Published on 07 Jul 2025

Identification of a novel microdeletion at 9q21.13 in a family with epilepsy, intellectual disability, and speech disorders and literature review

in Genetics of Common and Rare Diseases

Liqing Jiang
Jiaqi Li
Aizhong Han
Fei Hou
Xiaotong Wei
Yanjun Tian

Frontiers in Genetics

doi 10.3389/fgene.2025.1616005

482 views

Original Research

Published on 07 Jul 2025

Integrating genome and transcriptome analysis to decipher balanced structural variants in unsolved cases of neurodevelopmental disorders

in Genetics of Common and Rare Diseases

Simona Mellone
Alice Spano
Denise Vurchio
Giulia Borgonovi
Alessandro Ugonotti
Giulia Paglino
Alba Bianco
Sara Ronzani
Maurizio Sciancalepore
Flavia Prodam

Frontiers in Genetics

doi 10.3389/fgene.2025.1603513

430 views

Original Research

Accepted on 04 Jul 2025

Clinical and Molecular Findings in Actin-related Inborn Errors of Immunity: The Middle East and North Africa Registry

in Genetics of Common and Rare Diseases

Zahra Chavoshzadeh
Shahrzad Fallah
Vahide Zeinali
Samin Sharafian
Samaneh Delavari
Mehrnaz Mesdaghi
Reda Djidjik
Brahim Belaid
Kamile Aydan Ikinciogullari
Şule Haskoloğlu

Frontiers in Genetics

doi 10.3389/fgene.2025.1584681

250 views

Original Research

Published on 04 Jul 2025

The clinical and genetic profiles of spinal muscular atrophy with respiratory distress type 1 and identification of a novel mutation in IGHMBP2 in China

in Genetics of Common and Rare Diseases

Yanjun Wang
Ya Yang
Jingjing Wang
Qian Han
Nana Zhai
Shufang Xiao

Frontiers in Genetics

doi 10.3389/fgene.2025.1594265

422 views

Case Report

Published on 03 Jul 2025

Case Report: Surgical management of primary lymphedema with a novel PROX1 mutation involving upper and lower limbs

in Genetics of Common and Rare Diseases

Junzhe Chen
Liangliang Wang
Xiangkui Wu
Bihua Wu
Hai Li
Shune Xiao
Chengliang Deng

Frontiers in Genetics

doi 10.3389/fgene.2025.1560471

469 views