Frontiers in Genetics | Genetics of Common and Rare Diseases

Original Research

Published on 16 Aug 2022

Juvenile-onset PSAT1-related neuropathy: A milder phenotype of serine deficiency disorder

in Genetics of Common and Rare Diseases

Yu Shen
Yun Peng
Pengcheng Huang
Yilei Zheng
Shumeng Li
Kaiyan Jiang
Meihong Zhou
Jianwen Deng
Min Zhu
Daojun Hong

Frontiers in Genetics

doi 10.3389/fgene.2022.949038

3,840 views
6 citations

Original Research

Published on 15 Aug 2022

Identifying key genes in CD4+ T cells of systemic lupus erythematosus by integrated bioinformatics analysis

in Genetics of Common and Rare Diseases

Zutong Li
Zhilong Wang
Tian Sun
Shanshan Liu
Shuai Ding
Lingyun Sun

Frontiers in Genetics

doi 10.3389/fgene.2022.941221

4,469 views
7 citations

Case Report

Published on 15 Aug 2022

Case report: Multiple gastrointestinal perforations in a rare musculocontractural Ehlers–Danlos syndrome with multiple organ dysfunction

in Genetics of Common and Rare Diseases

Huitao Qian
Tao Zhou
Nan Zheng
Qiulun Lu
Yi Han

Frontiers in Genetics

doi 10.3389/fgene.2022.846529

2,253 views
5 citations

Case Report

Published on 15 Aug 2022

Case Report: Chinese female patients with a heterozygous pathogenic RPS6KA3 gene variant c.898C>T and distal 22q11.2 microdeletion

in Genetics of Common and Rare Diseases

Yan Cong
Hongxing Jin
Ke Wu
Hao Wang
Dong Wang

Frontiers in Genetics

doi 10.3389/fgene.2022.900226

2,686 views
1 citation

Original Research

Published on 12 Aug 2022

Next-generation sequencing reveals a case of Norrie disease in a child with bilateral ocular malformation

in Genetics of Common and Rare Diseases

Haijun Li
Zhiming Li
Degang Wang
Chuanming Chen
Zhiqiang Chen
Jinhua Wang
Chenxia Xu
Xingsheng Dong

Frontiers in Genetics

doi 10.3389/fgene.2022.870232

2,978 views
1 citation

Original Research

Published on 12 Aug 2022

ADD1 Single Nucleotide Polymorphisms Are Associated With Essential Hypertension Among Han and Mongolian Population in Inner Mongolia Area

in Genetics of Common and Rare Diseases

Yi Zhang
Peiye Chang
Zhiyue Liu

Frontiers in Genetics

doi 10.3389/fgene.2022.931803

2,201 views
5 citations

Case Report

Published on 12 Aug 2022

Case Report: Heterozygous Germline Variant in EIF6 Additional to Biallelic SBDS Pathogenic Variants in a Patient With Ribosomopathy Shwachman–Diamond Syndrome

in Genetics of Common and Rare Diseases

Ibrahim Taha
Selena Foroni
Roberto Valli
Annalisa Frattini
Pamela Roccia
Giovanni Porta
Marco Zecca
Elena Bergami
Marco Cipolli
Francesco Pasquali

Frontiers in Genetics

doi 10.3389/fgene.2022.896749

3,627 views
2 citations

Case Report

Published on 12 Aug 2022

Case report: Novel compound-heterozygous mutations in the TCN2 gene identified in a chinese girl with transcobalamin deficiency

in Genetics of Common and Rare Diseases

Juan Luo
Hongxi Guo
Lifang Feng
Luhong Yang
Xiaoqian Chen
Tingting Du
Man Hu
Hui Yao
Xiaohong Chen

Frontiers in Genetics

doi 10.3389/fgene.2022.951007

2,613 views
3 citations

Original Research

Published on 12 Aug 2022

Genetic association-based functional analysis detects HOGA1 as a potential gene involved in fat accumulation

in Genetics of Common and Rare Diseases

Myungsuk Kim
Kye Won Park
Yeongseon Ahn
Eun Bi Lim
Soo Heon Kwak
Ahmad Randy
No Joon Song
Kyong Soo Park
Chu Won Nho
Yoon Shin Cho

Frontiers in Genetics

doi 10.3389/fgene.2022.951025

3,558 views
2 citations

Original Research

Published on 11 Aug 2022

Identification of pathogenic genes associated with CKD: An integrated bioinformatics approach

in Genetics of Common and Rare Diseases

Mohd Murshad Ahmed
Zoya Shafat
Safia Tazyeen
Rafat Ali
Majed N. Almashjary
Rajaa Al-Raddadi
Steve Harakeh
Aftab Alam
Shafiul Haque
Romana Ishrat

Frontiers in Genetics

doi 10.3389/fgene.2022.891055

4,444 views
9 citations

Original Research

Published on 11 Aug 2022

The Usefulness of a Targeted Next Generation Sequencing Gene Panel in Providing Molecular Diagnosis to Patients With a Broad Spectrum of Neurodevelopmental Disorders

in Genetics of Common and Rare Diseases

Simona Mellone
Chiara Puricelli
Denise Vurchio
Sara Ronzani
Simone Favini
Arianna Maruzzi
Cinzia Peruzzi
Amanda Papa
Alice Spano
Fabio Sirchia

Frontiers in Genetics

doi 10.3389/fgene.2022.875182

4,692 views
14 citations

Case Report

Published on 11 Aug 2022

Case Report: Evidences of myasthenia and cerebellar atrophy in a chinese patient with novel compound heterozygous MSTO1 variants

in Genetics of Common and Rare Diseases

Liqun Liu
Ruiting Su
Peng Huang
Xingfang Li
Jie Xiong
Yangyang Xiao
Dingan Mao
Lingjuan Liu

Frontiers in Genetics

doi 10.3389/fgene.2022.947886

2,590 views
2 citations

Case Report

Published on 11 Aug 2022

Case report: Biochemical and clinical phenotypes caused by cysteine substitutions in the epidermal growth factor-like domains of fibrillin-1

in Genetics of Common and Rare Diseases

Xin Liu
Kaiqing Liu
Danyao Nie
Jing Zhang
Liyun Zhang
Xinhua Liu
Jiantao Wang

Frontiers in Genetics

doi 10.3389/fgene.2022.928683

3,311 views
7 citations

Original Research

Published on 11 Aug 2022

Cell-based analysis of CLIC5A and SLC12A2 variants associated with hearing impairment in two African families

in Genetics of Common and Rare Diseases

Samuel Mawuli Adadey
Edmond Wonkam-Tingang
Leonardo Alves de Souza Rios
Elvis Twumasi Aboagye
Kevin Esoh
Noluthando Manyisa
Carmen De Kock
Gordon A. Awandare
Shaheen Mowla
Ambroise Wonkam

Frontiers in Genetics

doi 10.3389/fgene.2022.924904

2,694 views
1 citation

Case Report

Published on 11 Aug 2022

Case report: Prenatal diagnosis of Kagami–Ogata syndrome in a Chinese family

in Genetics of Common and Rare Diseases

Junjie Hu
Ying Zhang
Yanmei Yang
Liya Wang
Yixi Sun
Minyue Dong

Frontiers in Genetics

doi 10.3389/fgene.2022.959666

2,859 views
3 citations

Original Research

Published on 10 Aug 2022

Identified novel heterozygous HTRA1 pathogenic variants in Chinese patients with HTRA1-associated dominant cerebral small vessel disease

in Genetics of Common and Rare Diseases

Mei-Jiao Chen
Yi Zhang
Wen-Jiao Luo
Hai-Lin Dong
Qiao Wei
Juan Zhang
Qi-Qi Ruan
Wang Ni
Hong-Fu Li

Frontiers in Genetics

doi 10.3389/fgene.2022.909131

3,513 views
2 citations