Genetic Mutation Analysis | List of Frontiers open access articles

Original Research

Published on 18 Jun 2025

Clinical characteristics and genetic mutation analysis in 18 pediatric patients with Shwachman-Diamond syndrome

in Genetics of Common and Rare Diseases

Ruoying Wei
Kaihui Zhang
Chen Liu
Xuxia Wei
Qin Jiang
Ji-an Li
Meiling Huo
Yinggang Liu
Mohnad Abdalla
Li-an Du

Frontiers in Genetics

doi 10.3389/fgene.2025.1603782

2,504 views

Case Report

Published on 18 Apr 2018

Rare Compound Heterozygous Frameshift Mutations in ALMS1 Gene Identified Through Exome Sequencing in a Taiwanese Patient With Alström Syndrome

in Genetics of Common and Rare Diseases

Meng-Che Tsai
Hui-Wen Yu
Tsunglin Liu
Yen-Yin Chou
Yuan-Yow Chiou
Peng-Chieh Chen

Frontiers in Genetics

doi 10.3389/fgene.2018.00110

5,106 views
12 citations

Case Report

Published on 14 Jul 2022

Case Report: Pathogenesis With a Rare RHOA A161E Mutation in a Patient With Angioimmunoblastic T-Cell Lymphoma

in Human and Medical Genomics

Lihong Cao
Hongyan Tong
Xing Liu
Yingqing Xu
Fang Yu
Qi Pan
Jin Lai
Jian Huang
Jiayue Qin
Jie Jin

Frontiers in Genetics

doi 10.3389/fgene.2022.948744

2,533 views
1 citation

Original Research

Published on 12 May 2025

Deciphering the multifaceted role of EXO1 in female-related cancers: implications for prognosis and therapeutic responsiveness

in Cancer Immunity and Immunotherapy

Cong Yu
Guoying Wu

Frontiers in Immunology

doi 10.3389/fimmu.2025.1591505

2,433 views
1 citation

Original Research

Published on 19 Feb 2021

The Correlation Between Tuberous Sclerosis Complex Genotype and Renal Angiomyolipoma Phenotype

in Genetics of Common and Rare Diseases

Nianyi Zhang
Xiaofang Wang
Zengqi Tang
Xiaonan Qiu
Zhixuan Guo
Danqi Huang
Hui Xiong
Qing Guo

Frontiers in Genetics

doi 10.3389/fgene.2020.575750

4,825 views
11 citations

Original Research

Published on 05 Mar 2021

Genomic Mutation Profile of Primary Gastrointestinal Diffuse Large B-Cell Lymphoma

in Hematologic Malignancies

Peifeng Li
Jia Chai
Zi Chen
Yang Liu
Jie Wei
Yixiong Liu
Danhui Zhao
Jing Ma
Kaijing Wang
Xia Li

Frontiers in Oncology

doi 10.3389/fonc.2021.622648

10,829 views
21 citations

Original Research

Published on 02 Jun 2023

An amino acid metabolism-based seventeen-gene signature correlates with the clinical outcome and immune features in pancreatic cancer

in Cancer Genetics and Oncogenomics

Jie Hao
Cancan Zhou
Zheng Wang
Zhenhua Ma
Zheng Wu
Yi Lv
Rongqian Wu

Frontiers in Genetics

doi 10.3389/fgene.2023.1084275

4,461 views
2 citations

Articles

Clinical characteristics and genetic mutation analysis in 18 pediatric patients with Shwachman-Diamond syndrome

Rare Compound Heterozygous Frameshift Mutations in ALMS1 Gene Identified Through Exome Sequencing in a Taiwanese Patient With Alström Syndrome

Case Report: Pathogenesis With a Rare RHOA A161E Mutation in a Patient With Angioimmunoblastic T-Cell Lymphoma

Deciphering the multifaceted role of EXO1 in female-related cancers: implications for prognosis and therapeutic responsiveness

The Correlation Between Tuberous Sclerosis Complex Genotype and Renal Angiomyolipoma Phenotype

Genomic Mutation Profile of Primary Gastrointestinal Diffuse Large B-Cell Lymphoma

An amino acid metabolism-based seventeen-gene signature correlates with the clinical outcome and immune features in pancreatic cancer