Frontiers in Genetics | Genetics of Common and Rare Diseases

Editorial

Published on 26 Jun 2024

Editorial: Neuronal ceroid lipofuscinosis: molecular genetics and epigenetics

in Genetics of Common and Rare Diseases

Paschalis Nicolaou

Frontiers in Genetics

doi 10.3389/fgene.2024.1430703

1,335 views
1 citation

Correction

Published on 25 Jun 2024

Corrigendum: Current phenotypic and genetic spectrum of syndromic deafness in Tunisia: paving the way for precision auditory health

in Genetics of Common and Rare Diseases

Rahma Mkaouar
Zied Riahi
Jihene Marrakchi
Nessrine Mezzi
Lilia Romdhane
Maroua Boujemaa
Hamza Dallali
Marwa Sayeb
Saida Lahbib
Hajer Jaouadi

Frontiers in Genetics

doi 10.3389/fgene.2024.1437233

1,073 views

Original Research

Published on 24 Jun 2024

Application of whole exome sequencing in carrier screening for high-risk families without probands

in Genetics of Common and Rare Diseases

Qinlin Huang
Zhongjie Wang
Yanling Teng
Wen Zhang
Juan Wen
Huimin Zhu
Desheng Liang
Lingqian Wu
Zhuo Li

Frontiers in Genetics

doi 10.3389/fgene.2024.1415811

2,462 views

Original Research

Published on 20 Jun 2024

How does the age of control individuals hinder the identification of target genes for Huntington’s disease?

in Genetics of Common and Rare Diseases

João Rafael Dias Pinto
Benedito Faustinoni Neto
Joyce Macedo Sanches Fernandes
Irina Kerkis
Rodrigo Pinheiro Araldi

Frontiers in Genetics

doi 10.3389/fgene.2024.1377237

1,442 views

Original Research

Published on 20 Jun 2024

ZP1-Y262C mutation causes abnormal zona pellucida formation and female infertility in humans

in Genetics of Common and Rare Diseases

Guangyi Cao
Lina Yu
Junshun Fang
Ruixin Shi
Huijun Li
Feifei Lu
Xiaoyue Shen
Xiangyu Zhu
Shanshan Wang
Na Kong

Frontiers in Genetics

doi 10.3389/fgene.2024.1407202

1,698 views
1 citation

Editorial

Published on 20 Jun 2024

Editorial: Inborn errors of carbohydrate metabolism

in Genetics of Common and Rare Diseases

Iván Martínez-Duncker
Ida Vanessa Doederlein-Schwartz
Melania Abreu-González
José Elías García-Ortiz

Frontiers in Genetics

doi 10.3389/fgene.2024.1430414

2,073 views

Original Research

Published on 17 Jun 2024

Deciphering the pathogenic role of rare RAF1 heterozygous missense mutation in the late-presenting DDH

in Genetics of Common and Rare Diseases

Yuzhao Liu
Xuesong Fan
Kun Qian
Changshun Wu
Laibo Zhang
Lin Yuan
Zhentao Man
Shuai Wu
Ping Li
Xianquan Wang

Frontiers in Genetics

doi 10.3389/fgene.2024.1375736

2,067 views

Original Research

Published on 17 Jun 2024

A novel insertional allele of the CG18135 gene is associated with severe mutant phenotypes in Drosophila melanogaster

in Genetics of Common and Rare Diseases

Attila Cristian Ratiu
Adrian Ionascu
Alexandru Al. Ecovoiu

Frontiers in Genetics

doi 10.3389/fgene.2024.1355368

1,364 views
1 citation

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

1,766 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

3,546 views
4 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

2,596 views
3 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

4,468 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

1,475 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

2,208 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

1,291 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

1,788 views