Frontiers in Genetics | Genetics of Common and Rare Diseases

Review

Accepted on 23 May 2025

Emerging Perspectives on Osteonecrosis of the Femoral Head: The Role of Circular RNAs and Long Non-Coding RNAs -A Systematic

in Genetics of Common and Rare Diseases

Feifei Lin
Shicheng Zhou
Min Yi
Qingyu Wang

Frontiers in Genetics

doi 10.3389/fgene.2025.1549684

Brief Research Report

Published on 23 May 2025

Molecular variants of multiple genes were revealed by whole-exome sequencing in PCOS patients with diabetes

in Genetics of Common and Rare Diseases

Chenglin Wang

Frontiers in Genetics

doi 10.3389/fgene.2025.1541946

253 views

Review

Accepted on 22 May 2025

The clinical application and challenges of preimplantation genetic testing

in Genetics of Common and Rare Diseases

Fan Zhou
Xinlian Chen
Shanling Liu
Xiaodong Wang

Frontiers in Genetics

doi 10.3389/fgene.2025.1599088

Case Report

Published on 22 May 2025

Autosomal recessive primary microcephaly in sibs in time of Zika epidemic: a Case Report

in Genetics of Common and Rare Diseases

Julia V. Almeida
Bianca Barbosa Abdala
Natana Chaves Rabelo
Maria Eduarda Gomes
Elenice Ferreira Bastos
Juan Clinton Llerena
Sayonara Gonzalez

Frontiers in Genetics

doi 10.3389/fgene.2025.1565296

485 views

Original Research

Published on 22 May 2025

Outcomes of cochlear implants in patients with PCDH15 mutations: a clinical study

in Genetics of Common and Rare Diseases

Qingling Bi
Zhongyan Chen
Baoling Kang
Yong Lv
Yongyi Yuan
Yang Liu
Jianfeng Liu
Yuan Li

Frontiers in Genetics

doi 10.3389/fgene.2025.1541333

332 views

Original Research

Accepted on 20 May 2025

A non-invasive method for screening mitochondrial diabetes

in Genetics of Common and Rare Diseases

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

Frontiers in Genetics

doi 10.3389/fgene.2025.1536331

Opinion

Accepted on 19 May 2025

Evaluating and Managing Inflammation During Gene Therapy for Duchenne Muscular Dystrophy for improving the therapeutic efficacy

in Genetics of Common and Rare Diseases

Kadalraja Raghavan
Nobunao Ikewaki
Senthilkumar Preethy
Samuel JK Abraham

Frontiers in Genetics

doi 10.3389/fgene.2025.1569289

429 views

Original Research

Accepted on 19 May 2025

Prevalence, Spermatozoa, Hormonal, and Genetic Evaluation of rare mosaic Klinefelter syndrome Patients in Southern China

in Genetics of Common and Rare Diseases

Derong Li
Yuqing Lai
Yujuan Liao
Jinjie Pan
Yudi Luo
Yunning Liang
Bowen Luo
Lingling Zhu
Guosheng Deng
Xiang Li

Frontiers in Genetics

doi 10.3389/fgene.2025.1573292

104 views

Original Research

Published on 19 May 2025

Normal hearing function genetics: have you heard all about it? An integrated approach of genome-wide association studies and transcriptome-wide association studies in three Italian cohorts

in Genetics of Common and Rare Diseases

Aurora Santin
Giulia Pianigiani
Alessandro Gialluisi
Alessandro Pecori
Beatrice Spedicati
Simona Costanzo
Mariarosaria Persichillo
Francesca Bracone
Giuseppe Giovanni Nardone
Paola Tesolin

Frontiers in Genetics

doi 10.3389/fgene.2025.1522338

406 views

Case Report

Published on 19 May 2025

Cognitive decline in an adult with ATR-16 syndrome due to an unbalanced translocation between 11p15.5 and 16p13.3: a case report

in Genetics of Common and Rare Diseases

Angela Krutish
Rebekah Kukurudz-Gorowski
Felippe Borlot
Patrick Frosk
Cheryl Rockman-Greenberg
Aizeddin A. Mhanni

Frontiers in Genetics

doi 10.3389/fgene.2025.1595298

262 views

Brief Research Report

Accepted on 16 May 2025

Novel causative RYR2 indel variant with exon and intron involvement inducing exon 13 skipping in one family exhibiting catecholaminergic polymorphic ventricular tachycardia

in Genetics of Common and Rare Diseases

Ju Hyeon Shin
Taek Kyu Park
Sung-A Chang
Shin Yi Jang
June Huh
Chang Ahn Seol
Kyoung-Jin Park
Sung Hoon Kim
Duk-Kyung Kim
Hye Bin Gwag

Frontiers in Genetics

doi 10.3389/fgene.2025.1581535

127 views

Original Research

Accepted on 14 May 2025

Identification and functional characteristics of a novel splice site variant in L1CAM caused X-Linked hydrocephalus

in Genetics of Common and Rare Diseases

Shijie Zhou
Hao Zhang
Xue Li
Quan Chen
Zhihong Xu

Frontiers in Genetics

doi 10.3389/fgene.2025.1588709

118 views

Original Research

Accepted on 13 May 2025

Identification and functional characterization of ABCA4 gene variants in three patients with Stargardt disease or retinitis pigmentosa

in Genetics of Common and Rare Diseases

Qi Luo
Juan Huang
Lu Shi
Guanghong Zhang
Linping Xue
Kehu Wu
Xiaoyu Li
Lei Yang
Dujun Li
Liangwei Mao

Frontiers in Genetics

doi 10.3389/fgene.2025.1516872

204 views

Original Research

Published on 13 May 2025

A novel loss-of-function SYCP2 variant causes asthenoteratozoospermia in infertile males

in Genetics of Common and Rare Diseases

Cong Liu
Yinfeng Zhang
Youming Zhao
Haining Luo

Frontiers in Genetics

doi 10.3389/fgene.2025.1595720

397 views

Original Research

Accepted on 12 May 2025

Very long-chain acyl-CoA dehydrogenase Deficiency Revisited: A Retrospective Genotype-Phenotype Analysis in a Saudi Tertiary Center

in Genetics of Common and Rare Diseases

Suzan Alhumaidi
Fahad Algaeed
Sara Alkaff
Meshari Aladhadh

Frontiers in Genetics

doi 10.3389/fgene.2025.1584817

130 views

Original Research

Accepted on 12 May 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