Frontiers in Genetics | Genetics of Common and Rare Diseases

Original Research

Published on 27 May 2024

Clinical characteristics and follow-up of complex arrhythmias associated with RYR2 gene mutations in children

in Genetics of Common and Rare Diseases

Yefeng Wang
Yufan Yang
Ningan Xu
Yunbin Xiao
Chao Zuo
Zhi Chen

Frontiers in Genetics

doi 10.3389/fgene.2024.1405437

1,128 views

Original Research

Published on 23 May 2024

Mechanistic study of pre-eclampsia and macrophage-associated molecular networks: bioinformatics insights from multiple datasets

in Genetics of Common and Rare Diseases

Jinfeng Cao
Wenxin Jiang
Zhe Yin
Na Li
Chao Tong
Hongbo Qi

Frontiers in Genetics

doi 10.3389/fgene.2024.1376971

2,525 views

Original Research

Published on 22 May 2024

Three exonic variants in the PHEX gene cause aberrant splicing in a minigene assay

in Genetics of Common and Rare Diseases

Fengjiao Pan
Ruixiao Zhang
Xuyan Liu
Xiaomeng Shi
Qing Xin
Dan Qiao
Changying Li
Yan Zhang
Mengke Chen
Wencong Guo

Frontiers in Genetics

doi 10.3389/fgene.2024.1353674

1,767 views

Original Research

Published on 21 May 2024

Phenotypic spectrum of the first Belgian MYBPC3 founder: a large multi-exon deletion with a varying phenotype

in Genetics of Common and Rare Diseases

Hanne M. Boen
Maaike Alaerts
Lut Van Laer
Johan B. Saenen
Inge Goovaerts
Jarl Bastianen
Pieter Koopman
Philippe Vanduynhoven
Elke De Vuyst
Michael Rosseel

Frontiers in Genetics

doi 10.3389/fgene.2024.1392527

2,237 views
1 citation

Original Research

Published on 20 May 2024

Keratin 19 (Krt19) is a novel marker gene for epicardial cells

in Genetics of Common and Rare Diseases

Juan Xu
Yiting Deng
Guang Li

Frontiers in Genetics

doi 10.3389/fgene.2024.1385867

2,085 views

Case Report

Published on 17 May 2024

Case report: Clinical, imaging, and genetic characteristics of type B niemann pick disease combined with segawa syndrome diagnosed via dual gene sequencing

in Genetics of Common and Rare Diseases

Fang Wu
Dongying Su
Weisi Wang
Xia Song
Shufeng Fan
Jinzhan Su
Linying Ma
Jianxia Xu
Qinpan Rao

Frontiers in Genetics

doi 10.3389/fgene.2024.1391936

1,201 views
2 citations

Case Report

Published on 17 May 2024

Prenatal diagnosis of Silver–Russell syndrome with 8q12 deletion including the PLAG1 gene: a case report and review

in Genetics of Common and Rare Diseases

Ke Wu
Yuying Zhu
Qiumin Zhu

Frontiers in Genetics

doi 10.3389/fgene.2024.1387649

1,478 views

Original Research

Published on 16 May 2024

The NM_033380.2 transcript of the COL4A5 gene contains a variable splice site c.4822–10T>C, which has been identified as a causative factor for Alport syndrome

in Genetics of Common and Rare Diseases

Lei Liang
Haotian Wu
Jianrong Zhao

Frontiers in Genetics

doi 10.3389/fgene.2024.1330525

1,060 views

Original Research

Published on 16 May 2024

Whole exome sequencing identified a homozygous novel variant in DOP1A gene in the Pakistan family with neurodevelopmental disabilities: case report and literature review

in Genetics of Common and Rare Diseases

Wei Zhang
Muhammad Tariq
Bhaskar Roy
Juan Shen
Ayaz Khan
Naveed Altaf Malik
Sijie He
Shahid Mahmood Baig
Xiaodong Fang
Jianguo Zhang

Frontiers in Genetics

doi 10.3389/fgene.2024.1351710

1,943 views
1 citation

Original Research

Published on 16 May 2024

A novel homozygous RSPH4A variant in a family with primary ciliary dyskinesia and literature review

in Genetics of Common and Rare Diseases

Chenling Shen
Yilin Shen
Weiyi Huang
Andi Zhang
Tianyuan Zou
Dongye Guo
Hao Wang
Jichang Wu
Haixia Hu
Mingliang Xiang

Frontiers in Genetics

doi 10.3389/fgene.2024.1364476

1,557 views

Original Research

Published on 15 May 2024

Translation, validation, and comparison of genetic knowledge scales in Greek and German

in Genetics of Common and Rare Diseases

Florian Melchior
Konrad Beyreuther
Birgit Teichmann

Frontiers in Genetics

doi 10.3389/fgene.2024.1350308

1,679 views

Brief Research Report

Published on 15 May 2024

Application of whole exome sequencing in the diagnosis of muscular disorders: a study of Taiwanese pediatric patients

in Genetics of Common and Rare Diseases

Chung-Lin Lee
Chih-Kuang Chuang
Huei-Ching Chiu
Ya-Hui Chang
Yuan-Rong Tu
Yun-Ting Lo
Hsiang-Yu Lin
Shuan-Pei Lin

Frontiers in Genetics

doi 10.3389/fgene.2024.1365729

2,181 views
1 citation

Original Research

Published on 14 May 2024

A whole-exome sequencing study of patent foramen ovale: investigating genetic variants and their association with cardiovascular disorders

in Genetics of Common and Rare Diseases

Xinyi Li
Lingling Xie
Jin Dai
Xinbin Zhou
Tingting Chen
Wei Mao

Frontiers in Genetics

doi 10.3389/fgene.2024.1405307

2,330 views
3 citations

Original Research

Published on 13 May 2024

Current approach to genetic testing and genetic evaluation referrals for adults with congenital heart disease

in Genetics of Common and Rare Diseases

Laura B. Oehlman
Alexander R. Opotowsky
Kathryn N. Weaver
Nicole M. Brown
Cara L. Barnett
Erin M. Miller
Hua He
Amy R. Shikany

Frontiers in Genetics

doi 10.3389/fgene.2024.1398887

1,322 views
3 citations

Original Research

Published on 13 May 2024

MYLKFLNB and DOCK1LAMA2 gene–gene interactions associated with rheumatoid arthritis in the focal adhesion pathway

in Genetics of Common and Rare Diseases

Maëva Veyssiere
Maria del Pilar Rodriguez Ordonez
Smahane Chalabi
Laetitia Michou
François Cornelis
Anne Boland
Robert Olaso
Jean-François Deleuze
Elisabeth Petit-Teixeira
Valérie Chaudru

Frontiers in Genetics

doi 10.3389/fgene.2024.1375036

1,513 views
1 citation

Original Research

Published on 09 May 2024

Identification of key genes affecting ventilator-induced diaphragmatic dysfunction in diabetic mice

in Genetics of Common and Rare Diseases

Rongchun Xing
Haibo Yu
Jiangtao Yu
Rong Zeng
Zhijun Xiang
Haoli Ma
Gang Li
Yan Zhao

Frontiers in Genetics

doi 10.3389/fgene.2024.1387688

1,521 views

Clinical characteristics and follow-up of complex arrhythmias associated with RYR2 gene mutations in children

Mechanistic study of pre-eclampsia and macrophage-associated molecular networks: bioinformatics insights from multiple datasets

Three exonic variants in the PHEX gene cause aberrant splicing in a minigene assay

Phenotypic spectrum of the first Belgian MYBPC3 founder: a large multi-exon deletion with a varying phenotype

Keratin 19 (Krt19) is a novel marker gene for epicardial cells

Case report: Clinical, imaging, and genetic characteristics of type B niemann pick disease combined with segawa syndrome diagnosed via dual gene sequencing

Prenatal diagnosis of Silver–Russell syndrome with 8q12 deletion including the PLAG1 gene: a case report and review

The NM_033380.2 transcript of the COL4A5 gene contains a variable splice site c.4822–10T>C, which has been identified as a causative factor for Alport syndrome

Whole exome sequencing identified a homozygous novel variant in DOP1A gene in the Pakistan family with neurodevelopmental disabilities: case report and literature review

A novel homozygous RSPH4A variant in a family with primary ciliary dyskinesia and literature review

Translation, validation, and comparison of genetic knowledge scales in Greek and German

Application of whole exome sequencing in the diagnosis of muscular disorders: a study of Taiwanese pediatric patients

A whole-exome sequencing study of patent foramen ovale: investigating genetic variants and their association with cardiovascular disorders

Current approach to genetic testing and genetic evaluation referrals for adults with congenital heart disease

MYLK*FLNB and DOCK1*LAMA2 gene–gene interactions associated with rheumatoid arthritis in the focal adhesion pathway

Identification of key genes affecting ventilator-induced diaphragmatic dysfunction in diabetic mice

MYLKFLNB and DOCK1LAMA2 gene–gene interactions associated with rheumatoid arthritis in the focal adhesion pathway