Brief Research Report

Published on 30 Jul 2024

SMN1 c.5C>G (p.Ala2Gly) missense variant, a challenging molecular SMA diagnosis associated with mild disease, preserves SMN nuclear gems in patient-specific fibroblasts

in Genetics of Common and Rare Diseases

Sara L. Cook
Christian Stout
Lindsey Kirkeby
Noemi Vidal-Folch
Devin Oglesbee
Linda Hasadsri
Duygu Selcen
Margherita Milone
Daniel Anderson
Nathan P. Staff

Frontiers in Genetics

doi 10.3389/fgene.2024.1406819

1,282 views
1 citation

Case Report

Published on 30 Jul 2024

Novel de novo SPAST mutation in a Han Chinese SPG4 patient: a case report

in Genetics of Common and Rare Diseases

Yu-Han Xu
Bao-Yu Yuan
Jia-Le Ji
Di Wu
Hong Zhou
Yi-Jing Guo

Frontiers in Genetics

doi 10.3389/fgene.2024.1410381

665 views

Original Research

Published on 29 Jul 2024

Preimplantation genetic testing for complex chromosomal rearrangements: clinical outcomes and potential risk factors

in Genetics of Common and Rare Diseases

Dun Liu
Chuangqi Chen
Qianwen Huang
Yunqiao Dong
Liqing Xu
Mei Dong
Zhenghong Zhu
Li Huang
Fang Wang
Lijia Zhang

Frontiers in Genetics

doi 10.3389/fgene.2024.1401549

972 views

Systematic Review

Published on 29 Jul 2024

The prevalence, diagnostic accuracy and genotype-phenotype correlation of GNAS mutations in fibrous dysplasia: a meta-analysis

in Genetics of Common and Rare Diseases

Ao-Bo Zhang
Jian-Yun Zhang
Jiang Xue
Zhen-Chao Wu
Zhi-Xiu Xu
Li-Sha Sun
Tie-Jun Li

Frontiers in Genetics

doi 10.3389/fgene.2024.1377716

954 views

Case Report

Published on 24 Jul 2024

Case report: First Chinese patient with family partial lipodystrophy type 6 due to novel compound heterozygous mutations in the LIPE gene

in Genetics of Common and Rare Diseases

Yimeng Zhou
Lin Zhang
Yang Ding
Yongzhen Zhai

Frontiers in Genetics

doi 10.3389/fgene.2024.1417613

880 views

Original Research

Published on 23 Jul 2024

Deciphering the genomic insights into the coexistence of congenital scoliosis and congenital anomalies of the kidney and urinary tract

in Genetics of Common and Rare Diseases

Haojun Wang
Wen Wen
Mingxi Yao
Tongwang Yang
Dongshan Chen
Wei Wang

Frontiers in Genetics

doi 10.3389/fgene.2024.1399604

1,031 views

Original Research

Published on 22 Jul 2024

Clinical and molecular characteristics of Kabuki syndrome patients with missense variants—novel features and literature review

in Genetics of Common and Rare Diseases

Snir Boniel
Maria Krajewska
Beata Pyrżak
Monika Paluchowska
Anna Majcher
Magdalena Zarlenga
Katarzyna Krenke
Robert Śmigiel
Anetta Jeziorek
Krystyna Szymańska

Frontiers in Genetics

doi 10.3389/fgene.2024.1402531

1,152 views

Original Research

Published on 18 Jul 2024

Spectrum of pathogenic variants and high prevalence of pathogenic BBS7 variants in Russian patients with Bardet–Biedl syndrome

in Genetics of Common and Rare Diseases

M. Orlova
P. Gundorova
V. Kadnikova
A. Polyakov

Frontiers in Genetics

doi 10.3389/fgene.2024.1419025

810 views

Original Research

Published on 16 Jul 2024

Identification of the CDH18 gene associated with age-related macular degeneration using weighted gene co-expression network analysis

in Genetics of Common and Rare Diseases

Guina Liu
Mingqi Tan
Rui Liu
Xuejin Lu
Xiaoshuang Jiang
Yunpeng Bai
Zhigang Guo
Fang Lu

Frontiers in Genetics

doi 10.3389/fgene.2024.1378340

1,215 views

Original Research

Published on 15 Jul 2024

Exome sequencing confirms the clinical diagnosis of both joubert syndrome and klinefelter syndrome with keratoconus in a han Chinese family

in Genetics of Common and Rare Diseases

Xinhe Fang
Meijiao Ma
Weining Rong
Yuan-Yuan Lian
Xueli Wu
Yongying Gao
Hui-Ping Li
Xunlun Sheng

Frontiers in Genetics

doi 10.3389/fgene.2024.1417584

1,442 views

Case Report

Published on 12 Jul 2024

Case report: A novel compound heterozygous variant in the COL4A3 gene was identified in a patient with autosomal recessive Alport syndrome

in Genetics of Common and Rare Diseases

Sha Chen
Yufeng Zhang
Jinjin He
Dingwei Yang

Frontiers in Genetics

doi 10.3389/fgene.2024.1426806

973 views

Case Report

Published on 11 Jul 2024

Case report: Two novel compound heterozygous variant of SLC12A3 gene in a gitelman syndrome family and literature review

in Genetics of Common and Rare Diseases

Xiaochen Ji
Nan Zhao
Haixia Liu
Yutong Wu
Lichao Liu

Frontiers in Genetics

doi 10.3389/fgene.2024.1391015

1,021 views

Original Research

Published on 10 Jul 2024

Novel pathogenic variants of DNAH5 associated with clinical and genetic spectra of primary ciliary dyskinesia in an Arab population

in Genetics of Common and Rare Diseases

Dalal A. Al-Mutairi
Basel H. Alsabah
Petra Pennekamp
Heymut Omran

Frontiers in Genetics

doi 10.3389/fgene.2024.1396797

1,282 views

Original Research

Published on 10 Jul 2024

Identification and functional characteristics of a novel splicing heterozygote variant of COL2A1 associated with Stickler syndrome type I

in Genetics of Common and Rare Diseases

Yujing Gong
Weijian Zhu
Mianmian Zhu
Dan Chen
Sunke Wu
Sisi Hu
Yi Luo
Yiyi Jiang
Ting Zhu
Dan Wang

Frontiers in Genetics

doi 10.3389/fgene.2024.1308737

745 views

Original Research

Published on 10 Jul 2024

Novel genotypes and phenotypes in Snijders Blok-Campeau syndrome caused by CHD3 mutations

in Genetics of Common and Rare Diseases

Yuanyuan Gao
Pei Wang
Mengying Chen
Kexin Pang
Yifan Sun
Bixia Zheng
Taisong Li
Hongmei Zhang
Min Zhu

Frontiers in Genetics

doi 10.3389/fgene.2024.1347933

1,044 views

Original Research

Published on 10 Jul 2024

Identification of shared genetic risks underlying metabolic syndrome and its related traits in the Korean population

in Genetics of Common and Rare Diseases

Jun Young Kim
Yoon Shin Cho

Frontiers in Genetics

doi 10.3389/fgene.2024.1417262

1,028 views

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Articles

SMN1 c.5C>G (p.Ala2Gly) missense variant, a challenging molecular SMA diagnosis associated with mild disease, preserves SMN nuclear gems in patient-specific fibroblasts

Novel de novo SPAST mutation in a Han Chinese SPG4 patient: a case report

Preimplantation genetic testing for complex chromosomal rearrangements: clinical outcomes and potential risk factors

The prevalence, diagnostic accuracy and genotype-phenotype correlation of GNAS mutations in fibrous dysplasia: a meta-analysis

Case report: First Chinese patient with family partial lipodystrophy type 6 due to novel compound heterozygous mutations in the LIPE gene

Deciphering the genomic insights into the coexistence of congenital scoliosis and congenital anomalies of the kidney and urinary tract

Clinical and molecular characteristics of Kabuki syndrome patients with missense variants—novel features and literature review

Spectrum of pathogenic variants and high prevalence of pathogenic BBS7 variants in Russian patients with Bardet–Biedl syndrome

Identification of the CDH18 gene associated with age-related macular degeneration using weighted gene co-expression network analysis

Exome sequencing confirms the clinical diagnosis of both joubert syndrome and klinefelter syndrome with keratoconus in a han Chinese family

Case report: A novel compound heterozygous variant in the COL4A3 gene was identified in a patient with autosomal recessive Alport syndrome

Case report: Two novel compound heterozygous variant of SLC12A3 gene in a gitelman syndrome family and literature review

Novel pathogenic variants of DNAH5 associated with clinical and genetic spectra of primary ciliary dyskinesia in an Arab population

Identification and functional characteristics of a novel splicing heterozygote variant of COL2A1 associated with Stickler syndrome type I

Novel genotypes and phenotypes in Snijders Blok-Campeau syndrome caused by CHD3 mutations

Identification of shared genetic risks underlying metabolic syndrome and its related traits in the Korean population