Frontiers in Genetics

Case Report

Published on 09 May 2025

Case report: Clinical and genetic characteristics of heterozygous CaSR variants in three Chinese females with familial hypocalciuric hypercalcemia type 1: a report of three cases

Ruxuan Zhang
Tingting Hu
Shuai Wang
Yiping Cheng
Dandan Luo
Dongmei Zheng
Xinli Zhou

Frontiers in Genetics

doi 10.3389/fgene.2025.1570141

2,127 views

Original Research

Published on 09 May 2025

Unveiling the molecular landscape of δ-thalassemia and δ-globin variants in southern China: novel mutations, gene spectrum, and implications for thalassemia diagnosis

Youqiong Li
Lihua Ye
Liang Liang
Lihong Zheng
Yongjun Xiao
Zhongchan Lao
Jinping Bai
Xi He
Qixun Fang
Ting Qin

Frontiers in Genetics

doi 10.3389/fgene.2025.1584310

1,710 views
1 citation

Brief Research Report

Published on 09 May 2025

Complete defect in PA-PLA1α secretion function leading to autosomal recessive woolly hair and hypotrichosis: insights from a novel compound heterozygous LIPH variant study in a Chinese pedigree

Xinyue Zhang
Kexin Guo
Jiawei Liu
Xueting Yang
Rui Zhang
Rongrong Wang
Donglai Ma
Xue Zhang

Frontiers in Genetics

doi 10.3389/fgene.2025.1591409

1,791 views

Original Research

Published on 09 May 2025

A novel synonymous variant in the NF1 gene disrupting splicing contributes to neurofibromatosis pathogenesis

Tao Lin
Zheyan Chen
Biwen Dong
Haojie Pan
Hai Wang
Xianjue Zheng
Kaixin Chen
Yanan Lai
Chenhui Zhang
Ye Dong

Frontiers in Genetics

doi 10.3389/fgene.2025.1572487

3,395 views

Original Research

Published on 09 May 2025

Long-read sequencing reveals absence of 5mC in Ogataea parapolymorpha DL-1 genome and introduces telomere-to-telomere assembly

Andrey Eremin
Alexander Sergeev
Arthur Kopylov
Vladimir Rodin
Daniil Malyshev
Tatiana Panova
Igor Polyakov
Maria Zvereva

Frontiers in Genetics

doi 10.3389/fgene.2025.1574332

2,271 views
1 citation

Original Research

Published on 09 May 2025

Nonmetastatic cell 1 gene polymorphisms are associated with the clinical progression and prognoses of patients with colorectal cancer

Yabin Liu
Tianliang Bai
Zhenxi Zhang
Yanjun Xu
Dexian Kong

Frontiers in Genetics

doi 10.3389/fgene.2025.1485855

1,316 views

Original Research

Published on 08 May 2025

Clinical features and genetic analysis of a family with t(5;9) (p15;p24) balanced translocation leading to Cri-du-chat syndrome in offspring

Jing Zhao
Ping Chen
Yijia Ren
Shurong Li
Weiyi Zhang
Yan Li
Fengyu Wang

Frontiers in Genetics

doi 10.3389/fgene.2025.1550937

3,392 views
1 citation

Original Research

Published on 08 May 2025

Genetic dissection of yield and yield-related traits in mungbean based on QTL meta-analysis

Binbin Du
Qifei Wang
Song Gao
Fan Yang
Lei Zhang
Xiao Zhang
Dongao Huo
Jia Wu
Xingen Zhang
Fang Li

Frontiers in Genetics

doi 10.3389/fgene.2025.1600979

2,534 views

Original Research

Published on 08 May 2025

Identification of candidate genes harboring pathogenic variants in congenital heart disease and laterality defects in Chinese population

Jinxin Wang
Weicheng Chen
Xianghui Huang
Han Gao
Zhiyu Feng
Chaozhong Tan
Quannan Zhuang
Yuan Gao
Shaojie Min
Yuquan Lu

Frontiers in Genetics

doi 10.3389/fgene.2025.1582718

2,804 views
1 citation

Case Report

Published on 06 May 2025

Case Report: A prenatal case with sex discordance between non-invasive prenatal testing and fetal genetic testings due to maternal rare chromosome karyotype

Guoxing Zhong
Jiajia Wu
Zeyan Zhong
Dina Chen
Zhiyang Guan
Shaohui Huang
Jianhong Chen

Frontiers in Genetics

doi 10.3389/fgene.2025.1546579

3,204 views
1 citation

Original Research

Published on 02 May 2025

Impact of different genomic relationship matrix construction methods on the accuracy of genomic prediction in different species

Shiyi Wang
Yingjia Wei
Dengying Liu
Xiangzhe Zhang
Qishan Wang
Yuchun Pan
Peipei Ma

Frontiers in Genetics

doi 10.3389/fgene.2025.1576248

2,824 views

Review

Published on 02 May 2025

Integrative genetic and epigenetic control of skeletal muscle fiber traits in agricultural animals

Xiaolong Chang
Junwu Ma

Frontiers in Genetics

doi 10.3389/fgene.2025.1566553

3,649 views
1 citation

Original Research

Published on 02 May 2025

Validation of a comprehensive long-read sequencing platform for broad clinical genetic diagnosis

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

6,869 views
4 citations

Original Research

Published on 02 May 2025

RNA hybrid-capture next-generation sequencing has high sensitivity in identifying known and less characterized oncogenic and likely oncogenic NTRK fusions in a real-world standard-of-care setting

Zachary D. Wallen
Marni Tierno
Erica Schnettler
Alison Roos
Michelle Green
Kobina Amoah
Rebecca A. Previs
Stephanie Hastings
Sarabjot Pabla
Taylor J. Jensen

Frontiers in Genetics

doi 10.3389/fgene.2025.1550706

15,167 views
1 citation

Technology and Code

Published on 02 May 2025

TCGADownloadHelper: simplifying TCGA data extraction and preprocessing

Alexandra Anke Baumann
Olaf Wolkenhauer
Markus Wolfien

Frontiers in Genetics

doi 10.3389/fgene.2025.1569290

5,823 views
1 citation

Review

Published on 01 May 2025

In vitro 3D modeling of colorectal cancer: the pivotal role of the extracellular matrix, stroma and immune modulation

Veroniaina Hanitrarimalala
Zdenka Prgomet
My Hedhammar
Helena Tassidis
Anette Gjörloff Wingren

Frontiers in Genetics

doi 10.3389/fgene.2025.1545017

4,823 views
3 citations

Original Research

Published on 01 May 2025

Development and validation of a polygenic risk score for height in a Greek cohort: Association with blood pressure measurements

Ioanna Panagiota Kalafati
Margaritis Tsifintaris
Maria Dimitriou
Effimia Grigoriou
Panagiotis Moulos
George V. Dedoussis

Frontiers in Genetics

doi 10.3389/fgene.2025.1538975

3,038 views

Original Research

Published on 01 May 2025

Identification of potential crucial genes and mechanisms associated with metabolically unhealthy obesity based on the gene expression profile

Qingqing Wang
Silu Wang
Zhanyu Zhuang
Xueting Wu
Hongkun Gao
Tianyi Zhang
Guorong Zou
Xing Ge
Yapeng Liu

Frontiers in Genetics

doi 10.3389/fgene.2025.1540721

2,023 views
1 citation

Original Research

Published on 01 May 2025

Radiomic features and tumor immune microenvironment associated with anaplastic lymphoma kinase-rearranged lung adenocarcinoma and their prognostic value

Ying Han
Wenya Feng
Huaxin Li
Hua Wang
Zhaoxiang Ye

Frontiers in Genetics

doi 10.3389/fgene.2025.1581937

2,351 views
1 citation

Original Research

Published on 30 Apr 2025

Impact of nonsynonymous single nucleotide polymorphisms in PROCR gene on protein stability and thrombotic risk: a molecular dynamic approach

Hytham Ahmed Abuagla
Khalid Mohamed Adam
Mohamed E. Elangeeb
Elsadig Mohamed Ahmed
Elshazali W. Ali
Ali M. Edris
Abubakr Ali Elamin MohamedAhmed
Elmoiz Idris Eltieb
Tarig Babikir Algak Khalid
Bahaeldin K. Elamin

Frontiers in Genetics

doi 10.3389/fgene.2025.1580993

2,220 views

Review

Published on 30 Apr 2025

Leveraging long-read sequencing technologies for pharmacogenomic testing: applications, analytical strategies, challenges, and future perspectives

Alireza Tafazoli
Mahboobeh Hemmati
Mahboobeh Rafigh
Maliheh Alimardani
Faeze Khaghani
Michał Korostyński
Jason H. Karnes

Frontiers in Genetics

doi 10.3389/fgene.2025.1435416

5,366 views
10 citations

Original Research

Published on 30 Apr 2025

Applying the algorithm for Proven and young in GWAS Reveals high polygenicity for key traits in Nellore cattle

Adebisi R. Ogunbawo
Jorge Hidalgo
Henrique A. Mulim
Eula R. Carrara
Henrique T. Ventura
Nadson O. Souza
Daniela Lourenco
Hinayah R. Oliveira

Frontiers in Genetics

doi 10.3389/fgene.2025.1549284

3,941 views
8 citations

Original Research

Published on 30 Apr 2025

High-precision lung cancer subtype diagnosis on imbalanced exosomal data via Exo-LCClassifier

Siyu Zhan
Hao Yu
Shuang Liu
Ke Qin
Lu Guo

Frontiers in Genetics

doi 10.3389/fgene.2025.1583081

2,150 views
1 citation

Original Research

Published on 30 Apr 2025

Genetic architecture of thermotolerance traits in beef cattle: a novel integration of SNP and breed-of-origin effects

Gabriel A. Zayas
Camila Santos Rojas
Eduardo E. Rodriguez
Aakilah S. Hernandez
Ashley M. Beard
Fahad Rafiq
Kaitlyn M. Sarlo Davila
Raluca G. Mateescu

Frontiers in Genetics

doi 10.3389/fgene.2025.1576966

3,773 views

16,571 Publications

volumes

Volume 16 - 2025

Case report: Clinical and genetic characteristics of heterozygous CaSR variants in three Chinese females with familial hypocalciuric hypercalcemia type 1: a report of three cases

Unveiling the molecular landscape of δ-thalassemia and δ-globin variants in southern China: novel mutations, gene spectrum, and implications for thalassemia diagnosis

Complete defect in PA-PLA1α secretion function leading to autosomal recessive woolly hair and hypotrichosis: insights from a novel compound heterozygous LIPH variant study in a Chinese pedigree

A novel synonymous variant in the NF1 gene disrupting splicing contributes to neurofibromatosis pathogenesis

Long-read sequencing reveals absence of 5mC in Ogataea parapolymorpha DL-1 genome and introduces telomere-to-telomere assembly

Nonmetastatic cell 1 gene polymorphisms are associated with the clinical progression and prognoses of patients with colorectal cancer

Clinical features and genetic analysis of a family with t(5;9) (p15;p24) balanced translocation leading to Cri-du-chat syndrome in offspring

Genetic dissection of yield and yield-related traits in mungbean based on QTL meta-analysis

Identification of candidate genes harboring pathogenic variants in congenital heart disease and laterality defects in Chinese population

Case Report: A prenatal case with sex discordance between non-invasive prenatal testing and fetal genetic testings due to maternal rare chromosome karyotype

Impact of different genomic relationship matrix construction methods on the accuracy of genomic prediction in different species

Integrative genetic and epigenetic control of skeletal muscle fiber traits in agricultural animals

Validation of a comprehensive long-read sequencing platform for broad clinical genetic diagnosis

RNA hybrid-capture next-generation sequencing has high sensitivity in identifying known and less characterized oncogenic and likely oncogenic NTRK fusions in a real-world standard-of-care setting

TCGADownloadHelper: simplifying TCGA data extraction and preprocessing

In vitro 3D modeling of colorectal cancer: the pivotal role of the extracellular matrix, stroma and immune modulation

Development and validation of a polygenic risk score for height in a Greek cohort: Association with blood pressure measurements

Identification of potential crucial genes and mechanisms associated with metabolically unhealthy obesity based on the gene expression profile

Radiomic features and tumor immune microenvironment associated with anaplastic lymphoma kinase-rearranged lung adenocarcinoma and their prognostic value

Impact of nonsynonymous single nucleotide polymorphisms in PROCR gene on protein stability and thrombotic risk: a molecular dynamic approach

Leveraging long-read sequencing technologies for pharmacogenomic testing: applications, analytical strategies, challenges, and future perspectives

Applying the algorithm for Proven and young in GWAS Reveals high polygenicity for key traits in Nellore cattle

High-precision lung cancer subtype diagnosis on imbalanced exosomal data via Exo-LCClassifier

Genetic architecture of thermotolerance traits in beef cattle: a novel integration of SNP and breed-of-origin effects