Case Report

Published on 07 Sep 2022

Case report: A novel CASK mutation in a Chinese female child with microcephaly with pontine and cerebellar hypoplasia

in Genetics of Common and Rare Diseases

Guilan Xie
Yan Zhang
Wenfang Yang
Liren Yang
Ruiqi Wang
Mengmeng Xu
Landi Sun
Boxing Zhang
Xiaoyi Cui

Frontiers in Genetics

doi 10.3389/fgene.2022.856636

1,735 views
2 citations

Original Research

Published on 07 Sep 2022

Haplotype-specific chromatin looping reveals genetic interactions of regulatory regions modulating gene expression in 8p23.1

in Genetics of Common and Rare Diseases

Mariana Saint Just Ribeiro
Pulak Tripathi
Bahram Namjou
John B. Harley
Iouri Chepelev

Frontiers in Genetics

doi 10.3389/fgene.2022.1008582

3,186 views
4 citations

Perspective

Published on 06 Sep 2022

Ectodermal dysplasias: New perspectives on the treatment of so far immedicable genetic disorders

in Genetics of Common and Rare Diseases

Holm Schneider

Frontiers in Genetics

doi 10.3389/fgene.2022.1000744

6,032 views
8 citations

Editorial

Published on 06 Sep 2022

Editorial: Improving medical diagnosis in rare diseases

in Genetics of Common and Rare Diseases

Natália Duarte Linhares
Kathleen M Gorman
Alfredo Brusco

Frontiers in Genetics

doi 10.3389/fgene.2022.974129

1,558 views

Original Research

Published on 06 Sep 2022

Comprehensive analysis and validation of novel immune and vascular remodeling related genes signature associated with drug interactions in pulmonary arterial hypertension

in Genetics of Common and Rare Diseases

Jie Wang
Md. Nazim Uddin
Rui Wang
Yue-hong Gong
Yun Wu

Frontiers in Genetics

doi 10.3389/fgene.2022.922213

2,578 views
8 citations

Case Report

Published on 05 Sep 2022

Case report: Rare among ultrarare—Clinical odyssey of a new patient with Ogden syndrome

in Genetics of Common and Rare Diseases

Jagoda Hofman
Michal Hutny
Karolina Chwialkowska
Urszula Korotko
Karolina Loranc
Anna Kruk
Urszula Lechowicz
Adriana Rozy
Pawel Gajdanowicz
Miroslaw Kwasniewski

Frontiers in Genetics

doi 10.3389/fgene.2022.979377

3,057 views
5 citations

Mini Review

Published on 02 Sep 2022

Roles of AIM2 Gene and AIM2 Inflammasome in the Pathogenesis and Treatment of Psoriasis

in Genetics of Common and Rare Diseases

Jieyi Wang
Jing Gao
Cong Huang
Sohyun Jeong
Randy Ko
Xue Shen
Chaofeng Chen
Weilong Zhong
Yanfen Zou
Bo Yu

Frontiers in Genetics

doi 10.3389/fgene.2022.929162

5,374 views
6 citations

Original Research

Published on 02 Sep 2022

Molecular subtype identification and predictive power of N6-methyladenosine regulator in unexplained recurrent pregnancy loss

in Genetics of Common and Rare Diseases

Jiahui Huo
Qian Chen
Yutong Zhang
Nuo Li
Zhiyu Fu
Ning Ma
Nan Zheng
Nan Cui
Lu Li

Frontiers in Genetics

doi 10.3389/fgene.2022.925652

2,471 views
1 citation

Mini Review

Published on 02 Sep 2022

Paraoxonase 1 gene polymorphisms in lipid oxidation and atherosclerosis development

in Genetics of Common and Rare Diseases

Marija Vavlukis
Ana Vavlukis
Katerina Krsteva
Sonja Topuzovska

Frontiers in Genetics

doi 10.3389/fgene.2022.966413

2,783 views
9 citations

Original Research

Published on 02 Sep 2022

An additional whole-exome sequencing study in 102 panel-undiagnosed patients: A retrospective study in a Chinese craniosynostosis cohort

in Genetics of Common and Rare Diseases

Jieyi Chen
Ping Zhang
Meifang Peng
Bo Liu
Xiao Wang
Siyuan Du
Yao Lu
Xiongzheng Mu
Yulan Lu
Sijia Wang

Frontiers in Genetics

doi 10.3389/fgene.2022.967688

2,885 views
2 citations

Original Research

Published on 02 Sep 2022

Detection of four rare thalassemia variants using Single-molecule realtime sequencing

in Genetics of Common and Rare Diseases

Shiqiang Luo
Xingyuan Chen
Dingyuan Zeng
Ning Tang
Dejian Yuan
Bailing Liu
Lizhu Chen
Qingyan Zhong
Jiaqi Li
Yinyin Liu

Frontiers in Genetics

doi 10.3389/fgene.2022.974999

3,879 views
9 citations

Case Report

Published on 02 Sep 2022

Case report: Exotropia in waardenburg syndrome with novel variations

in Genetics of Common and Rare Diseases

Lijuan Huang
Maosheng Guo
Ningdong Li

Frontiers in Genetics

doi 10.3389/fgene.2022.969680

1,410 views

Original Research

Published on 31 Aug 2022

Exploring and expanding the phenotype and genotype diversity in seven Chinese families with spondylo-epi-metaphyseal dysplasia

in Genetics of Common and Rare Diseases

Shanshan Lv
Jiao Zhao
Li Liu
Chun Wang
Hua Yue
Hao Zhang
Shanshan Li
Zhenlin Zhang

Frontiers in Genetics

doi 10.3389/fgene.2022.960504

2,337 views
1 citation

Original Research

Published on 31 Aug 2022

Prenatal and postnatal diagnosis of Phelan–McDermid syndrome: A report of 21 cases from a medical center and review of the literature

in Genetics of Common and Rare Diseases

Ying Hao
Yang Liu
Jingxin Yang
Xingping Li
Fuwei Luo
Qian Geng
Suli Li
Peining Li
Weiqing Wu
Jiansheng Xie

Frontiers in Genetics

doi 10.3389/fgene.2022.961196

3,903 views
5 citations

Case Report

Published on 31 Aug 2022

Case report: Analysis of novel compound heterozygous TPP1 variants in a Chinese patient with neuronal ceroid lipofuscinosis type 2

in Genetics of Common and Rare Diseases

Sui-Bing Miao
Hui Guo
De-Xian Kong
Yuan-Yuan Zhao
Shu-Hong Pan
Yan Jiang
Xing Gao
Xiao-Hua Wu

Frontiers in Genetics

doi 10.3389/fgene.2022.937485

1,995 views

Original Research

Published on 30 Aug 2022

Genomic study of nonsyndromic hearing loss in unaffected individuals: Frequency of pathogenic and likely pathogenic variants in a Brazilian cohort of 2,097 genomes

in Genetics of Common and Rare Diseases

Caio Robledo D’ Angioli Costa Quaio
Antonio Victor Campos Coelho
Livia Maria Silva Moura
Rafael Lucas Muniz Guedes
Kelin Chen
Jose Ricardo Magliocco Ceroni
Renata Moldenhauer Minillo
Marcel Pinheiro Caraciolo
Rodrigo de Souza Reis
Bruna Mascaro Cordeiro de Azevedo

Frontiers in Genetics

doi 10.3389/fgene.2022.921324

3,640 views
1 citation

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Articles

Case report: A novel CASK mutation in a Chinese female child with microcephaly with pontine and cerebellar hypoplasia

Haplotype-specific chromatin looping reveals genetic interactions of regulatory regions modulating gene expression in 8p23.1

Ectodermal dysplasias: New perspectives on the treatment of so far immedicable genetic disorders

Editorial: Improving medical diagnosis in rare diseases

Comprehensive analysis and validation of novel immune and vascular remodeling related genes signature associated with drug interactions in pulmonary arterial hypertension

Case report: Rare among ultrarare—Clinical odyssey of a new patient with Ogden syndrome

Roles of AIM2 Gene and AIM2 Inflammasome in the Pathogenesis and Treatment of Psoriasis

Molecular subtype identification and predictive power of N6-methyladenosine regulator in unexplained recurrent pregnancy loss

Paraoxonase 1 gene polymorphisms in lipid oxidation and atherosclerosis development

An additional whole-exome sequencing study in 102 panel-undiagnosed patients: A retrospective study in a Chinese craniosynostosis cohort

Detection of four rare thalassemia variants using Single-molecule realtime sequencing

Case report: Exotropia in waardenburg syndrome with novel variations

Exploring and expanding the phenotype and genotype diversity in seven Chinese families with spondylo-epi-metaphyseal dysplasia

Prenatal and postnatal diagnosis of Phelan–McDermid syndrome: A report of 21 cases from a medical center and review of the literature

Case report: Analysis of novel compound heterozygous TPP1 variants in a Chinese patient with neuronal ceroid lipofuscinosis type 2

Genomic study of nonsyndromic hearing loss in unaffected individuals: Frequency of pathogenic and likely pathogenic variants in a Brazilian cohort of 2,097 genomes