Case Report

Published on 09 Jul 2021

Case Report: Triple Primary Malignant Tumors of the Esophagus, Stomach, and Colon in a Patient With Genetic Analysis

in Genetics of Common and Rare Diseases

Xiaoli Zhan
Lingzhe He
Kai Song
Shuliang Cao
Erhong Meng
Yuedong Wang

Frontiers in Genetics

doi 10.3389/fgene.2021.676497

2,875 views
4 citations

Original Research

Published on 09 Jul 2021

Novel Mutations Within Collagen Alpha1(I) and Alpha2(I) Ligand-Binding Sites, Broadening the Spectrum of Osteogenesis Imperfecta – Current Insights Into Collagen Type I Lethal Regions

in Genetics of Common and Rare Diseases

Kinga Sałacińska
Iwona Pinkier
Lena Rutkowska
Danuta Chlebna-Sokół
Elżbieta Jakubowska-Pietkiewicz
Izabela Michałus
Łukasz Kępczyński
Dominik Salachna
Aleksander Jamsheer
Ewelina Bukowska-Olech

Frontiers in Genetics

doi 10.3389/fgene.2021.692978

3,984 views
7 citations

Case Report

Published on 08 Jul 2021

Case Report: Uncommon Association of ITGB4 and KRT10 Gene Mutation in a Case of Epidermolysis Bullosa With Pyloric Atresia and Aplasia Cutis Congenita

in Genetics of Common and Rare Diseases

Melinda Matyas
Diana Miclea
Gabriela Zaharie

Frontiers in Genetics

doi 10.3389/fgene.2021.641977

2,144 views
6 citations

Original Research

Published on 07 Jul 2021

GGC Repeat Expansion in the NOTCH2NLC Gene Is Associated With a Phenotype of Predominant Motor–Sensory and Autonomic Neuropathy

in Genetics of Common and Rare Diseases

Hui Wang
Jiaxi Yu
Meng Yu
Jianwen Deng
Wei Zhang
He Lv
Jing Liu
Xin Shi
Wei Liang
Zhirong Jia

Frontiers in Genetics

doi 10.3389/fgene.2021.694790

3,789 views
16 citations

Original Research

Published on 07 Jul 2021

Evaluation of the Clinical, Biochemical, Neurological, and Genetic Presentations of Glutaric Aciduria Type 1 in Patients From China

in Genetics of Common and Rare Diseases

Huishu E.
Lili Liang
Huiwen Zhang
Wenjuan Qiu
Jun Ye
Feng Xu
Zhuwen Gong
Xuefan Gu
Lianshu Han

Frontiers in Genetics

doi 10.3389/fgene.2021.702374

4,349 views
11 citations

Review

Published on 05 Jul 2021

From Science to Success? Targeting Tyrosine Kinase 2 in Spondyloarthritis and Related Chronic Inflammatory Diseases

in Genetics of Common and Rare Diseases

Dominika Hromadová
Dirk Elewaut
Robert D. Inman
Birgit Strobl
Eric Gracey

Frontiers in Genetics

doi 10.3389/fgene.2021.685280

10,281 views
17 citations

Original Research

Published on 02 Jul 2021

Expression Profiling and Functional Analysis of Candidate Col10a1 Regulators Identified by the TRAP Program

in Genetics of Common and Rare Diseases

Huiqin Bian
Ting Zhu
Yuting Liang
Ruoxuan Hei
Xiaojing Zhang
Xiaochen Li
Jinnan Chen
Yaojuan Lu
Junxia Gu
Longwei Qiao

Frontiers in Genetics

doi 10.3389/fgene.2021.683939

4,357 views
9 citations

Original Research

Published on 02 Jul 2021

Bronchopulmonary Dysplasia Predicted by Developing a Machine Learning Model of Genetic and Clinical Information

in Genetics of Common and Rare Diseases

Dan Dai
Huiyao Chen
Xinran Dong
Jinglong Chen
Mei Mei
Yulan Lu
Lin Yang
Bingbing Wu
Yun Cao
Jin Wang

Frontiers in Genetics

doi 10.3389/fgene.2021.689071

4,231 views
27 citations

Original Research

Published on 02 Jul 2021

Whole-Exome Sequencing Identified CFTR Variants in Two Consanguineous Families in China

in Genetics of Common and Rare Diseases

Binyi Yang
Cheng Lei
Danhui Yang
Zhiping Tan
Ting Guo
Hong Luo

Frontiers in Genetics

doi 10.3389/fgene.2021.631221

3,998 views
2 citations

Original Research

Published on 02 Jul 2021

Multi-Center in-Depth Screening of Neonatal Deafness Genes: Zhejiang, China

in Genetics of Common and Rare Diseases

Luhang Cai
Ya Liu
Yaping Xu
Hang Yang
Lihui Lv
Yang Li
Qiongqiong Chen
Xiaojiang Lin
Yihui Yang
Guangwei Hu

Frontiers in Genetics

doi 10.3389/fgene.2021.637096

5,104 views
8 citations

Original Research

Published on 02 Jul 2021

Classifying and Evaluating Fetuses With Ventriculomegaly in Genetic Etiologic Studies

in Genetics of Common and Rare Diseases

Meiying Cai
Hailong Huang
Liangpu Xu
Na Lin

Frontiers in Genetics

doi 10.3389/fgene.2021.682707

4,244 views
6 citations

Original Research

Published on 01 Jul 2021

Novel Mutations in the GTPBP3 Gene for Mitochondrial Disease and Characteristics of Related Phenotypic Spectrum: The First Three Cases From China

in Genetics of Common and Rare Diseases

Hui-ming Yan
Zhi-mei Liu
Bei Cao
Victor Wei Zhang
Yi-duo He
Zheng-jun Jia
Hui Xi
Jing Liu
Fang Fang
Hua Wang

Frontiers in Genetics

doi 10.3389/fgene.2021.611226

3,664 views
7 citations

Review

Published on 01 Jul 2021

Report of the Largest Chinese Cohort With SLC19A3 Gene Defect and Literature Review

in Genetics of Common and Rare Diseases

Jiaping Wang
Junling Wang
Xiaodi Han
Zhimei Liu
Yanli Ma
Guohong Chen
Haoya Zhang
Dan Sun
Ruifeng Xu
Yi Liu

Frontiers in Genetics

doi 10.3389/fgene.2021.683255

4,871 views
21 citations

Case Report

Published on 01 Jul 2021

Case Report: Identification of Maternal Low-Level Mosaicism in the Dystrophin Gene by Droplet Digital Polymerase Chain Reaction

in Genetics of Common and Rare Diseases

Pengzhen Jin
Xiaoyang Gao
Miaomiao Wang
Yeqing Qian
Jingjin Yang
Yanmei Yang
Yuqing Xu
Yanfei Xu
Minyue Dong

Frontiers in Genetics

doi 10.3389/fgene.2021.686993

2,551 views
5 citations

Original Research

Published on 30 Jun 2021

Characterization With Gene Mutations in Han Chinese Patients With Hypospadias and Function Analysis of a Novel AR Genevariant

in Genetics of Common and Rare Diseases

Lifen Chen
Junqi Wang
Wenli Lu
Yuan Xiao
Jihong Ni
Wei Wang
Xiaoyu Ma
Zhiya Dong

Frontiers in Genetics

doi 10.3389/fgene.2021.673732

3,473 views
5 citations

Case Report

Published on 30 Jun 2021

Case Report: Causative De novo Variants of KCNT2 for Developmental and Epileptic Encephalopathy

in Genetics of Common and Rare Diseases

Pan Gong
Xianru Jiao
Dan Yu
Zhixian Yang

Frontiers in Genetics

doi 10.3389/fgene.2021.649556

4,921 views
10 citations

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Articles

Case Report: Triple Primary Malignant Tumors of the Esophagus, Stomach, and Colon in a Patient With Genetic Analysis

Novel Mutations Within Collagen Alpha1(I) and Alpha2(I) Ligand-Binding Sites, Broadening the Spectrum of Osteogenesis Imperfecta – Current Insights Into Collagen Type I Lethal Regions

Case Report: Uncommon Association of ITGB4 and KRT10 Gene Mutation in a Case of Epidermolysis Bullosa With Pyloric Atresia and Aplasia Cutis Congenita

GGC Repeat Expansion in the NOTCH2NLC Gene Is Associated With a Phenotype of Predominant Motor–Sensory and Autonomic Neuropathy

Evaluation of the Clinical, Biochemical, Neurological, and Genetic Presentations of Glutaric Aciduria Type 1 in Patients From China

From Science to Success? Targeting Tyrosine Kinase 2 in Spondyloarthritis and Related Chronic Inflammatory Diseases

Expression Profiling and Functional Analysis of Candidate Col10a1 Regulators Identified by the TRAP Program

Bronchopulmonary Dysplasia Predicted by Developing a Machine Learning Model of Genetic and Clinical Information

Whole-Exome Sequencing Identified CFTR Variants in Two Consanguineous Families in China

Multi-Center in-Depth Screening of Neonatal Deafness Genes: Zhejiang, China

Classifying and Evaluating Fetuses With Ventriculomegaly in Genetic Etiologic Studies

Novel Mutations in the GTPBP3 Gene for Mitochondrial Disease and Characteristics of Related Phenotypic Spectrum: The First Three Cases From China

Report of the Largest Chinese Cohort With SLC19A3 Gene Defect and Literature Review

Case Report: Identification of Maternal Low-Level Mosaicism in the Dystrophin Gene by Droplet Digital Polymerase Chain Reaction

Characterization With Gene Mutations in Han Chinese Patients With Hypospadias and Function Analysis of a Novel AR Genevariant

Case Report: Causative De novo Variants of KCNT2 for Developmental and Epileptic Encephalopathy