Frontiers in Genetics | Genetics of Common and Rare Diseases

Original Research

Published on 06 Jan 2025

An investigation of a hemophilia A female with heterozygous intron 22 inversion and skewed X chromosome inactivation

in Genetics of Common and Rare Diseases

Xiaoyan Tan
Yi Yang
Xia Wu
Jing Zhu
Teng Wang
Huihui Jiang
Shu Chen
Shifeng Lou

Frontiers in Genetics

doi 10.3389/fgene.2024.1500167

1,298 views

Review

Published on 06 Jan 2025

Marfan syndrome: insights from animal models

in Genetics of Common and Rare Diseases

Yuanyuan Jiang
Ping Jia
Xiaoying Feng
Dingding Zhang

Frontiers in Genetics

doi 10.3389/fgene.2024.1463318

2,921 views

Case Report

Published on 03 Jan 2025

Identification of a novel frameshift variation in ANKRD11: a case report of KBG syndrome

in Genetics of Common and Rare Diseases

Qing Shao
Qiang Jiang
Yuqi Luo
Yimei Meng
Guoyu Tian
Xiao Yin

Frontiers in Genetics

doi 10.3389/fgene.2024.1439905

4,837 views

Case Report

Published on 23 Dec 2024

Case Report and literature review: Delayed diagnosis of ARCL1B due to a newly reported homozygous mutation c.464A>C p. (Tyr155Ser) in the EFEMP2 gene

in Genetics of Common and Rare Diseases

Lixue Ouyang
Fan Yang
Hongyu Duan
Chuan Wang

Frontiers in Genetics

doi 10.3389/fgene.2024.1453195

1,447 views

Original Research

Published on 18 Dec 2024

Identification of hub programmed cell death-related genes and immune infiltration in Crohn’s disease using bioinformatics

in Genetics of Common and Rare Diseases

Biyao Wang
Hailing Liu
Qin Guo
Xiang Gao
Kang Chao
Qingfan Yang

Frontiers in Genetics

doi 10.3389/fgene.2024.1425062

1,424 views

Brief Research Report

Published on 16 Dec 2024

Novel variant alters splicing of TGFB2 in family with features of Loeys-Dietz syndrome

in Genetics of Common and Rare Diseases

Emily R. Gordon
Stephanie A. Felker
Tanner F. Coleman
Nadiya Sosonkina
Jada Pugh
Meagan E. Cochran
Anna C. E. Hurst
Sara J. Cooper

Frontiers in Genetics

doi 10.3389/fgene.2024.1435734

1,433 views

Original Research

Published on 13 Dec 2024

Systemic inflammatory regulators and age-related macular degeneration: a bidirectional Mendelian randomization study

in Genetics of Common and Rare Diseases

Xi Liu
Yu Cao
Ying Wang
Lihua Kang
Guowei Zhang
Junfang Zhang
Bai Qin
Ling Yang
Jiawei Luo
Pengfei Li

Frontiers in Genetics

doi 10.3389/fgene.2024.1391999

1,767 views
1 citation

Original Research

Published on 13 Dec 2024

Prenatal diagnosis of a silver-russell syndrome caused by 11p15 duplication and pedigree analysis

in Genetics of Common and Rare Diseases

Shurong Hong
Hua Wei
Xueyi Zhuang
Weirong Huang
Yu Zhang

Frontiers in Genetics

doi 10.3389/fgene.2024.1465521

1,145 views

Systematic Review

Published on 12 Dec 2024

Mapping the current status and outlook of research on noonan syndrome over the last 26 years: a bibliometric and visual analysis

in Genetics of Common and Rare Diseases

Zhengjiu Cui
Yuanyuan Wang
Fei Luo
Juanjuan Diao
Bin Yuan

Frontiers in Genetics

doi 10.3389/fgene.2024.1488425

2,012 views
2 citations

Review

Published on 11 Dec 2024

Pathogenesis and management of TRPV3-related Olmsted syndrome

in Genetics of Common and Rare Diseases

Antong Lu
Kezhen Li
Cong Huang
Bo Yu
Weilong Zhong

Frontiers in Genetics

doi 10.3389/fgene.2024.1459109

1,641 views

Original Research

Published on 11 Dec 2024

The frequent variant A57F in the GNE gene in patients from Russia has Finno-Ugric Mari origin

in Genetics of Common and Rare Diseases

Dmitrii Subbotin
Sofya Ionova
Andrey Marakhonov
Elena Saifullina
Artem Borovikov
Leila Akhmadeeva
Polina Chausova
Oksana Ryzhkova
Rena Zinchenko
Sergey Kutsev

Frontiers in Genetics

doi 10.3389/fgene.2024.1511304

940 views

Original Research

Published on 10 Dec 2024

Whole-exome sequencing identified a novel heterozygous variant in UBAP2L in a Chinese family with neurodevelopmental disorder characterized by impaired language, behavioral abnormalities, and dysmorphic facies

in Genetics of Common and Rare Diseases

Qi Yang
Qiang Zhang
Xunzhao Zhou
Juntan Feng
Shujie Zhang
Li Lin
Shang Yi
Zailong Qin
Jingsi Luo

Frontiers in Genetics

doi 10.3389/fgene.2024.1503048

1,736 views
1 citation

Case Report

Published on 10 Dec 2024

Insights into diagnostic difficulties in spinal muscular atrophy: a Case Report series

in Genetics of Common and Rare Diseases

Kakha Bregvadze
Luka Abashishvili
Nana Nino Tatishvili
Teona Shatirishvili
Ana Bedoshvili
Gocha Chikvinidze
Arndt Rolfs
Volha Skrahina
Tinatin Tkemaladze

Frontiers in Genetics

doi 10.3389/fgene.2024.1502444

1,481 views

Original Research

Published on 09 Dec 2024

UDP-glucuronosyltransferases 2A3 as a biomarker for ulcerative colitis and colon cancer

in Genetics of Common and Rare Diseases

Hao Chen

Frontiers in Genetics

doi 10.3389/fgene.2024.1419755

1,209 views

Brief Research Report

Published on 09 Dec 2024

Gender-specific association of STON2 rs2371597 polymorphism in keratoconus patients of Saudi origin

in Genetics of Common and Rare Diseases

Altaf A. Kondkar
Tahira Sultan
Taif A. Azad
Tanvir Khatlani
Glenn P. Lobo
Hatem Kalantan
Saleh A. Al-Obeidan
Abdulrahman M. Al-Muammar

Frontiers in Genetics

doi 10.3389/fgene.2024.1505629

1,063 views

Case Report

Published on 06 Dec 2024

Case report: Multiple approach analysis in a case of clinically assessed myotonia congenita

in Genetics of Common and Rare Diseases

Sabrina Lucchiari
Francesco Fortunato
Giovanni Meola
Andrea Mignarri
Serena Pagliarani
Stefania Corti
Giacomo P. Comi
Dario Ronchi

Frontiers in Genetics

doi 10.3389/fgene.2024.1486977

1,511 views