Case Report

Published on 22 Jul 2022

Case Report: A Novel GJB2 Missense Variant Inherited From the Low-Level Mosaic Mother in a Chinese Female With Palmoplantar Keratoderma With Deafness

in Genetics of Common and Rare Diseases

Xinyuan Tian
Chuan Zhang
Bingbo Zhou
Xue Chen
Xuan Feng
Lei Zheng
Yupei Wang
Shengju Hao
Ling Hui

Frontiers in Genetics

doi 10.3389/fgene.2022.938639

2,048 views
3 citations

Original Research

Published on 22 Jul 2022

Sex chromosome aneuploidies give rise to changes in the circular RNA profile: A circular transcriptome-wide study of Turner and Klinefelter syndrome across different tissues

in Genetics of Common and Rare Diseases

Emma B. Johannsen
Jesper Just
Mette H. Viuff
Trine Line Hauge Okholm
Steen B. Pedersen
Katrine Meyer Lauritsen
Christian Trolle
Mette Glavind Bülow Pedersen
Simon Chang
Jens Fedder

Frontiers in Genetics

doi 10.3389/fgene.2022.928874

916,582 views
13 citations

Case Report

Published on 22 Jul 2022

Case Report: Immune Microenvironment and Mutation Features in a Patient With Epstein–Barr Virus Positive Large B-Cell Lymphoma Secondary to Angioimmunoblastic T-Cell Lymphoma

in Genetics of Common and Rare Diseases

Fen Zhang
Wenyu Li
Qian Cui
Yu Chen
Yanhui Liu

Frontiers in Genetics

doi 10.3389/fgene.2022.940513

2,254 views
2 citations

Original Research

Published on 19 Jul 2022

Paternal De Novo Variant of TAOK1 in a Fetus With Structural Brain Abnormalities

in Genetics of Common and Rare Diseases

Lihua Yu
Chaoxiang Yang
Ning Shang
Hongke Ding
Juan Zhu
Yuanyuan Zhu
Haowen Tan
Yan Zhang

Frontiers in Genetics

doi 10.3389/fgene.2022.836853

2,095 views
6 citations

Original Research

Published on 19 Jul 2022

Do Biobank Recall Studies Matter? Long-Term Follow-Up of Research Participants With Familial Hypercholesterolemia

in Genetics of Common and Rare Diseases

Miriam Nurm
Anu Reigo
Margit Nõukas
Liis Leitsalu
Tiit Nikopensius
Marili Palover
Tarmo Annilo
Maris Alver
Aet Saar
Toomas Marandi

Frontiers in Genetics

doi 10.3389/fgene.2022.936131

2,280 views
2 citations

Original Research

Published on 18 Jul 2022

Functional and clinical analysis of five EDA variants associated with ectodermal dysplasia but with a hard-to-predict significance

in Genetics of Common and Rare Diseases

Sare Gökdere
Holm Schneider
Ute Hehr
Laure Willen
Pascal Schneider
Sigrun Maier-Wohlfart

Frontiers in Genetics

doi 10.3389/fgene.2022.934395

3,394 views
3 citations

Case Report

Published on 18 Jul 2022

Variable Clinical Features in a Large Family With Diamond Blackfan Anemia Caused by a Pathogenic Missense Mutation in RPS19

in Genetics of Common and Rare Diseases

Sarah Cole
Neelam Giri
Blanche P. Alter
D. Matthew Gianferante

Frontiers in Genetics

doi 10.3389/fgene.2022.914141

2,140 views
1 citation

Original Research

Published on 18 Jul 2022

Comprehensive comparative analysis of histopathology and gene expression in subchondral bone between kashin-beck disease and primary osteoarthritis

in Genetics of Common and Rare Diseases

Lei Yang
Jingwen Sun
Ying Zhang
Xiong Guo
Guanghui Zhao

Frontiers in Genetics

doi 10.3389/fgene.2022.942326

1,644 views
4 citations

Original Research

Published on 15 Jul 2022

Global, Regional, and National Burden and Trends of Down Syndrome From 1990 to 2019

in Genetics of Common and Rare Diseases

Liyuan Chen
Lifei Wang
Yi Wang
Haishan Hu
Yuan Zhan
Zhilin Zeng
Lidan Liu

Frontiers in Genetics

doi 10.3389/fgene.2022.908482

31,781 views
18 citations

Case Report

Published on 15 Jul 2022

Case Report: A Novel Homozygous Missense Variant of FBN3 Supporting It Is a New Candidate Gene Causative of a Bardet–Biedl Syndrome–Like Phenotype

in Genetics of Common and Rare Diseases

Maria Luce Genovesi
Barbara Torres
Marina Goldoni
Eliana Salvo
Claudia Cesario
Massimo Majolo
Tommaso Mazza
Carmelo Piscopo
Laura Bernardini

Frontiers in Genetics

doi 10.3389/fgene.2022.924362

2,174 views
2 citations

Original Research

Published on 15 Jul 2022

The Prevalence and Genetic Spectrum of Familial Hypercholesterolemia in Qatar Based on Whole Genome Sequencing of 14,000 Subjects

in Genetics of Common and Rare Diseases

Ilhame Diboun
Yasser Al-Sarraj
Salman M. Toor
Shaban Mohammed
Nadeem Qureshi
Moza S. H. Al Hail
Amin Jayyousi
Jassim Al Suwaidi
Omar M. E. Albagha

Frontiers in Genetics

doi 10.3389/fgene.2022.927504

3,961 views
2 citations

Case Report

Published on 14 Jul 2022

Case Report: Gene Heterogeneity in the Recurrent and Metastatic Lesions of a Myxoid Chondrosarcoma Patient With Aggressive Transformation

in Genetics of Common and Rare Diseases

Xuanhong He
Yitian Wang
Chang Zou
Chuanxi Zheng
Yi Luo
Yong Zhou
Chongqi Tu

Frontiers in Genetics

doi 10.3389/fgene.2022.791675

1,371 views

Original Research

Published on 14 Jul 2022

Identification of Dysbetalipoproteinemia by an Enhanced Sampson-NIH Equation for Very Low-Density Lipoprotein-Cholesterol

in Genetics of Common and Rare Diseases

Maureen Sampson
Anna Wolska
Jeff W. Meeusen
Leslie J. Donato
Allan S. Jaffe
Alan T. Remaley

Frontiers in Genetics

doi 10.3389/fgene.2022.935257

2,303 views
7 citations

Case Report

Published on 14 Jul 2022

A novel mutation in the UBAP1 gene causing hereditary spastic paraplegia: A case report and overview of the genotype-phenotype correlation

in Genetics of Common and Rare Diseases

Peiqiang Li
Xiande Huang
Senmao Chai
Dalin Zhu
Huirong Huang
Fengdie Ma
Shasha Zhang
Xiaodong Xie

Frontiers in Genetics

doi 10.3389/fgene.2022.936292

2,411 views

Case Report

Published on 13 Jul 2022

Case Report: Severe Hypotonia Without Hyperphenylalaninemia Caused by a Homozygous GCH1 Variant: A Case Report and Literature Review

in Genetics of Common and Rare Diseases

Yun Chen
Kaiyu Liu
Zailan Yang
Yaozhou Wang
Hao Zhou

Frontiers in Genetics

doi 10.3389/fgene.2022.929069

1,964 views
2 citations

Original Research

Published on 13 Jul 2022

Multiple Machine Learning Methods Reveal Key Biomarkers of Obstructive Sleep Apnea and Continuous Positive Airway Pressure Treatment

in Genetics of Common and Rare Diseases

Jie Zhu
Larry D. Sanford
Rong Ren
Ye Zhang
Xiangdong Tang

Frontiers in Genetics

doi 10.3389/fgene.2022.927545

3,059 views
4 citations

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Articles

Case Report: A Novel GJB2 Missense Variant Inherited From the Low-Level Mosaic Mother in a Chinese Female With Palmoplantar Keratoderma With Deafness

Sex chromosome aneuploidies give rise to changes in the circular RNA profile: A circular transcriptome-wide study of Turner and Klinefelter syndrome across different tissues

Case Report: Immune Microenvironment and Mutation Features in a Patient With Epstein–Barr Virus Positive Large B-Cell Lymphoma Secondary to Angioimmunoblastic T-Cell Lymphoma

Paternal De Novo Variant of TAOK1 in a Fetus With Structural Brain Abnormalities

Do Biobank Recall Studies Matter? Long-Term Follow-Up of Research Participants With Familial Hypercholesterolemia

Functional and clinical analysis of five EDA variants associated with ectodermal dysplasia but with a hard-to-predict significance

Variable Clinical Features in a Large Family With Diamond Blackfan Anemia Caused by a Pathogenic Missense Mutation in RPS19

Comprehensive comparative analysis of histopathology and gene expression in subchondral bone between kashin-beck disease and primary osteoarthritis

Global, Regional, and National Burden and Trends of Down Syndrome From 1990 to 2019

Case Report: A Novel Homozygous Missense Variant of FBN3 Supporting It Is a New Candidate Gene Causative of a Bardet–Biedl Syndrome–Like Phenotype

The Prevalence and Genetic Spectrum of Familial Hypercholesterolemia in Qatar Based on Whole Genome Sequencing of 14,000 Subjects

Case Report: Gene Heterogeneity in the Recurrent and Metastatic Lesions of a Myxoid Chondrosarcoma Patient With Aggressive Transformation

Identification of Dysbetalipoproteinemia by an Enhanced Sampson-NIH Equation for Very Low-Density Lipoprotein-Cholesterol

A novel mutation in the UBAP1 gene causing hereditary spastic paraplegia: A case report and overview of the genotype-phenotype correlation

Case Report: Severe Hypotonia Without Hyperphenylalaninemia Caused by a Homozygous GCH1 Variant: A Case Report and Literature Review

Multiple Machine Learning Methods Reveal Key Biomarkers of Obstructive Sleep Apnea and Continuous Positive Airway Pressure Treatment