Case Report

Published on 31 May 2024

Case report: Late-onset MELAS syndrome with mtDNA 5783G>A mutation diagnosed by urinary sediment genetic testing

in Genetics of Common and Rare Diseases

Hao Cai
Li-Min Li
Miao Zhang
Yuying Zhou
Pan Li

Frontiers in Genetics

doi 10.3389/fgene.2024.1367716

781 views

Original Research

Published on 30 May 2024

Exploring the impact of a KCNH2 missense variant on Long QT syndrome: insights into a novel gender-selective, incomplete penetrance inheritance mode

in Genetics of Common and Rare Diseases

Peng Chen
Zainul Zampawala
Hong Wang
Luyun Wang

Frontiers in Genetics

doi 10.3389/fgene.2024.1409459

1,274 views

Original Research

Published on 28 May 2024

Disease spectrum, prevalence, genetic characteristics of inborn errors of metabolism in 21,840 hospitalized infants in Chongqing, China, 2017-2022

in Genetics of Common and Rare Diseases

Dongjuan Wang
Juan Zhang
Rui Yang
Dayong Zhang
Ming Wang
Chaowen Yu
Jingli Yang
Wenxia Huang
Shan Liu
Shi Tang

Frontiers in Genetics

doi 10.3389/fgene.2024.1395988

1,329 views

Original Research

Published on 27 May 2024

Molecular autopsy by proxy: relevance for genetic counseling in rare genetic disorders

in Genetics of Common and Rare Diseases

Cristina Skrypnyk
Rawan AlHarmi

Frontiers in Genetics

doi 10.3389/fgene.2024.1400295

902 views

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

771 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

1,507 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

1,048 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

1,376 views

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

1,310 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

766 views

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

904 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

731 views

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

1,053 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

1,280 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

1,176 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

1,496 views
1 citation

Navigation group

Articles

Case report: Late-onset MELAS syndrome with mtDNA 5783G>A mutation diagnosed by urinary sediment genetic testing

Exploring the impact of a KCNH2 missense variant on Long QT syndrome: insights into a novel gender-selective, incomplete penetrance inheritance mode

Disease spectrum, prevalence, genetic characteristics of inborn errors of metabolism in 21,840 hospitalized infants in Chongqing, China, 2017-2022

Molecular autopsy by proxy: relevance for genetic counseling in rare genetic disorders

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

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

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