Frontiers in Genetics | Genetics of Common and Rare Diseases

Original Research

Published on 15 Jan 2025

Increased cardiac macrophages in Sorbs2-deficient hearts: revealing a potential role for macrophage in responding to embryonic myocardial abnormalities

in Genetics of Common and Rare Diseases

Beibei Hu
Xiangyang Liu
Shanshan Xiong
Qin Gong
Junjie Yang
Hongjun Shi
Min Zhang
Fei Liang
Zhen Zhang

Frontiers in Genetics

doi 10.3389/fgene.2024.1525931

2,579 views

Case Report

Published on 15 Jan 2025

Case Report: Novel ADA2 variants cause atypical adenosine deaminase 2 deficiency

in Genetics of Common and Rare Diseases

Haishao Yu
Shuangzhu Lin
Lin Li
Jiayi Li
Qiandui Chen
Yuheng Wu
Yangfan Qi
Wanqi Wang
Xingzhi Chang
Jie Zhang

Frontiers in Genetics

doi 10.3389/fgene.2024.1478581

2,174 views
1 citation

Clinical Trial

Published on 13 Jan 2025

Genetic variation in patent foramen ovale: a case-control genome-wide association study

in Genetics of Common and Rare Diseases

Bosi Dong
Yajiao Li
Fandi Ai
Jia Geng
Ting Tang
Wan Peng
Yusha Tang
Hui Wang
Zixuan Tian
Fengxiao Bu

Frontiers in Genetics

doi 10.3389/fgene.2024.1523304

2,670 views
1 citation

Original Research

Published on 08 Jan 2025

Detection of inversion with breakpoints in ARSB causing MPS VI by whole-genome sequencing: lessons learned and best practices

in Genetics of Common and Rare Diseases

Yufeng Huang
Wenyue Deng
Hui Huang
Xiankai Zhang
Xiaohong Chen
Jian Ye
Sukun Luo
Ting Yu
Hui Yao
Hao Du

Frontiers in Genetics

doi 10.3389/fgene.2024.1452498

1,516 views

Case Report

Published on 07 Jan 2025

Case Report: Craniofacial deafness hand syndrome with unusual cardiovascular symptoms and lack of holistic care

in Genetics of Common and Rare Diseases

Samantha Saenz Hinojosa
Carlos Reyes-Silva
Kazuyoshi Hosomichi
Vanessa I. Romero

Frontiers in Genetics

doi 10.3389/fgene.2024.1354632

1,639 views

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

2,665 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

5,644 views
5 citations

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

5,591 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

2,166 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

2,076 views
1 citation

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

2,313 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

2,739 views
2 citations

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

2,042 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

3,206 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

3,443 views
4 citations

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

1,708 views
1 citation

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

2,672 views
2 citations

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

2,393 views
1 citation

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

1,917 views
1 citation

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

1,841 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

2,299 views

Case Report

Published on 05 Dec 2024

Case report: A single novel calpain 3 gene variant associated with mild myopathy

in Genetics of Common and Rare Diseases

Sara Massucco
Paola Fossa
Chiara Fiorillo
Elena Faedo
Chiara Gemelli
Rita Barresi
Michela Ripolone
Serena Patrone
Andrea Gaudio
Paola Mandich

Frontiers in Genetics

doi 10.3389/fgene.2024.1437859

2,059 views
1 citation

Editorial

Published on 02 Dec 2024

Editorial: Recent advances in understanding the genetics of immunological disorders

in Genetics of Common and Rare Diseases

Che Kang Lim
Hassan Abolhassani
Jinqiao Sun

Frontiers in Genetics

doi 10.3389/fgene.2024.1530187

1,800 views

Brief Research Report

Published on 29 Nov 2024

Genewise detection of variants in MEFV gene using nanopore sequencing

in Genetics of Common and Rare Diseases

Lilit Ghukasyan
Gisane Khachatryan
Tamara Sirunyan
Arpine Minasyan
Siras Hakobyan
Andranik Chavushyan
Varduhi Hayrapetyan
Hovsep Ghazaryan
Gevorg Martirosyan
Gohar Mkrtchyan

Frontiers in Genetics

doi 10.3389/fgene.2024.1493295

2,990 views
1 citation

1,993 articles

articles

Increased cardiac macrophages in Sorbs2-deficient hearts: revealing a potential role for macrophage in responding to embryonic myocardial abnormalities

Case Report: Novel ADA2 variants cause atypical adenosine deaminase 2 deficiency

Genetic variation in patent foramen ovale: a case-control genome-wide association study

Detection of inversion with breakpoints in ARSB causing MPS VI by whole-genome sequencing: lessons learned and best practices

Case Report: Craniofacial deafness hand syndrome with unusual cardiovascular symptoms and lack of holistic care

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

Marfan syndrome: insights from animal models

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

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

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

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

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

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

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

Pathogenesis and management of TRPV3-related Olmsted syndrome

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

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

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

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

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

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

Case report: A single novel calpain 3 gene variant associated with mild myopathy

Editorial: Recent advances in understanding the genetics of immunological disorders

Genewise detection of variants in MEFV gene using nanopore sequencing