Frontiers in Genetics | Genetics of Common and Rare Diseases

Original Research

Published on 12 Jun 2024

Clinical profiles and molecular genetic analyses of 98 Chinese children with short statures

in Genetics of Common and Rare Diseases

Danfeng Fang
Xing Li
Zhigang Zhang
Hefei Cai
Lu Wang
Jiahe Yu
Xuanye Hu
Bin Ye

Frontiers in Genetics

doi 10.3389/fgene.2024.1364441

2,274 views

Original Research

Published on 11 Jun 2024

Revealing the genetic complexity of hypothyroidism: integrating complementary association methods

in Genetics of Common and Rare Diseases

Roei Zucker
Michael Kovalerchik
Amos Stern
Hadasa Kaufman
Michal Linial

Frontiers in Genetics

doi 10.3389/fgene.2024.1409226

4,557 views
5 citations

Original Research

Published on 10 Jun 2024

Identification of oxidative phosphorylation-related genes in moyamoya disease by combining bulk RNA-sequencing analysis and machine learning

in Genetics of Common and Rare Diseases

Zhiguang Han
Junze Zhang
Yutao Su
Zhenyu Zhou
Yanru Wang
Shaoqi Xu
Yuanli Zhao
Shihao He
Rong Wang

Frontiers in Genetics

doi 10.3389/fgene.2024.1417329

3,226 views
4 citations

Review

Published on 10 Jun 2024

Worldwide cohort study of 46, XY differences/disorders of sex development genetic diagnoses: geographic and ethnic differences in variants

in Genetics of Common and Rare Diseases

Chen Jiali
Peng Huifang
Jiang Yuqing
Zeng Xiantao
Jiang Hongwei

Frontiers in Genetics

doi 10.3389/fgene.2024.1387598

5,606 views
5 citations

Original Research

Published on 05 Jun 2024

Rare exonic CELSR3 variants identified in Bladder Exstrophy Epispadias Complex

in Genetics of Common and Rare Diseases

Angie C. Jelin
Nikolai Sopko
Nara Sobreira
Simeon A. Boyadjiev
Elizabeth Wohler
Christian Morrill
P. Dane Witmer
Jason Michaud
David Valle
John Gearhart

Frontiers in Genetics

doi 10.3389/fgene.2024.1266210

1,748 views

Original Research

Published on 05 Jun 2024

A novel IRF6 gene mutation impacting the regulation of TGFβ2-AS1 in the TGFβ pathway: A mechanism in the development of Van der Woude syndrome

in Genetics of Common and Rare Diseases

Zhiyang Zhao
Renjie Cui
Haoshu Chi
Teng Wan
Duan Ma
Jin Zhang
Ming Cai

Frontiers in Genetics

doi 10.3389/fgene.2024.1397410

2,757 views
1 citation

Original Research

Published on 04 Jun 2024

Routine antenatal molecular testing for α-thalassemia at a tertiary referral hospital in China: ten years of experience

in Genetics of Common and Rare Diseases

Dongming Li
Lifang Liang
Dahua Meng
Sheng He

Frontiers in Genetics

doi 10.3389/fgene.2024.1416047

1,638 views

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

2,175 views
1 citation

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

2,733 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

3,291 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

1,977 views
1 citation

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

1,959 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

3,850 views
1 citation

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

3,057 views
1 citation

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

3,140 views
2 citations

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

3,331 views
2 citations