Frontiers in Genetics | Genetics of Common and Rare Diseases

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

1,229 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

766 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

1,291 views
1 citation

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

1,013 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

683 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

1,094 views

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

1,089 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

825 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

658 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

1,052 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

876 views

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

890 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

1,501 views

Brief Research Report

Published on 29 Nov 2024

Case Report: Novel CNGA3 compound heterozygous variants cause achromatopsia in three patients from a family

in Genetics of Common and Rare Diseases

Xiaoqiang Zhou
Yasi Zhou
Shuijuan Wu
Xiaoling Guo
Liangfeng Yao
Xingkun Yang

Frontiers in Genetics

doi 10.3389/fgene.2024.1457569

669 views

Original Research

Published on 29 Nov 2024

Detection of gene variants associated with recessive limb–girdle muscular weakness and Pompe disease in a global cohort of patients through the application of next-generation sequencing analysis

in Genetics of Common and Rare Diseases

Jorge Alfredo Bevilacqua
Abdullah Mohammed Al-Salti
Abubaker Al Madani
Armando Alves da Fonseca
Hacer Durmus
Josiah Chai
Ali Alshehri
Márcia Gonçalves Ribeiro
Paulo Sgobbi
Sergey S. Nikitin

Frontiers in Genetics

doi 10.3389/fgene.2024.1477291

1,299 views

Case Report

Published on 28 Nov 2024

Novel pathogenic ATM mutation with ataxia-telangiectasia in a Chinese family

in Genetics of Common and Rare Diseases

Qiaomin Zhou
Minling Chen
Enfu Tao

Frontiers in Genetics

doi 10.3389/fgene.2024.1491649

760 views