Case Report

Published on 27 May 2022

Case Report: Identification Pathogenic Abnormal Splicing of BBS1 Causing Bardet–Biedl Syndrome Type I (BBS1) due to Missense Mutation

in Genetics of Common and Rare Diseases

Kai Yan
Yixi Sun
Yanmei Yang
Bei Liu
Minyue Dong

Frontiers in Genetics

doi 10.3389/fgene.2022.849562

1,937 views
2 citations

Original Research

Published on 27 May 2022

Establishment and Phenotypic Analysis of the Novel Gaucher Disease Mouse Model With the Partially Humanized Gba1 Gene and F213I Mutation

in Genetics of Common and Rare Diseases

Jia-ni Guo
Ming Guan
Nan Jiang
Na Li
Ya-jun Li
Jin Zhang
Duan Ma

Frontiers in Genetics

doi 10.3389/fgene.2022.892457

2,358 views
1 citation

Case Report

Published on 26 May 2022

Case Report: Balanced Reciprocal Translocation t (17; 22) (p11.2; q11.2) and 10q23.31 Microduplication in an Infertile Male Patient Suffering From Teratozoospermia

in Genetics of Common and Rare Diseases

Shan Huang
Huiling Wu
Yunwei Qi
Liqiang Wei
Xiaodan Lv
Yu He

Frontiers in Genetics

doi 10.3389/fgene.2022.797813

1,951 views
2 citations

Correction

Published on 25 May 2022

Expression of Concern: Novel Genetic Signatures Associated With Sporadic Amyotrophic Lateral Sclerosis

in Genetics of Common and Rare Diseases

Frontiers Editorial Office

Frontiers in Genetics

doi 10.3389/fgene.2022.946214

1,570 views

Original Research

Published on 25 May 2022

Neuron-Specific Deletion of Scrib in Mice Leads to Neuroanatomical and Locomotor Deficits

in Genetics of Common and Rare Diseases

Jerome Ezan
Maité M. Moreau
Tamrat M. Mamo
Miki Shimbo
Maureen Decroo
Nathalie Sans
Mireille Montcouquiol

Frontiers in Genetics

doi 10.3389/fgene.2022.872700

2,419 views
4 citations

Original Research

Published on 25 May 2022

Presence of Circulatory Autoantibodies Against ROS-Modified Histone H1 Protein in Lymphoma Patients

in Genetics of Common and Rare Diseases

Naif K. Binsaleh
Reem Eltayeb
Husam Qanash
Mohammad Azhar Aziz
Raid Albaradie
Mohd Wajid Ali Khan

Frontiers in Genetics

doi 10.3389/fgene.2022.909903

1,646 views
1 citation

Original Research

Published on 24 May 2022

Identification of Novel Genetic Variants and Comorbidities Associated With ICD-10-Based Diagnosis of Hypertrophic Cardiomyopathy Using the UK Biobank Cohort

in Genetics of Common and Rare Diseases

Alex Gyftopoulos
Yi-Ju Chen
Libin Wang
Charles H. Williams
Young Wook Chun
Jeffery R. O’Connell
James A. Perry
Charles C. Hong

Frontiers in Genetics

doi 10.3389/fgene.2022.866042

4,720 views
7 citations

Original Research

Published on 23 May 2022

A Connexin Gene (GJB3) Mutation in a Chinese Family With Erythrokeratodermia Variabilis, Ichthyosis and Nonsyndromic Hearing Loss: Case Report and Mutations Update

in Genetics of Common and Rare Diseases

Yajuan Gao
Qianli Zhang
Shiyu Zhang
Lu Yang
Yaping Liu
Yuehua Liu
Tao Wang

Frontiers in Genetics

doi 10.3389/fgene.2022.797124

2,352 views
3 citations

Case Report

Published on 23 May 2022

Case Report: Clinical and Genetic Characteristics of Pearson Syndrome in a Chinese Boy and 139 Patients

in Genetics of Common and Rare Diseases

Yanqin Ying
Yan Liang
Xiaoping Luo
Ming Wei

Frontiers in Genetics

doi 10.3389/fgene.2022.802402

2,793 views
9 citations

Original Research

Published on 20 May 2022

MicroRNA Expression in Circulating Leukocytes and Bioinformatic Analysis of Patients With Moyamoya Disease

in Genetics of Common and Rare Diseases

Kaijiang Kang
Yuan Shen
Qian Zhang
Jingjing Lu
Yi Ju
Ruijun Ji
Na Li
Jianwei Wu
Bo Yang
Jinxi Lin

Frontiers in Genetics

doi 10.3389/fgene.2022.816919

2,576 views

Original Research

Published on 20 May 2022

The Genetic Spectrum of Familial Hypertriglyceridemia in Oman

in Genetics of Common and Rare Diseases

Khalid Al-Waili
Khalid Al-Rasadi
Muna Al-Bulushi
Mohammed Habais
Abdullah Al-Mujaini
Saif Al-Yaarubi
Antoine Rimbert
Razan Zadjali
Pegah Moradi Khaniabadi
Hamida Al-Barwani

Frontiers in Genetics

doi 10.3389/fgene.2022.886182

2,715 views
2 citations

Original Research

Published on 20 May 2022

Exome Sequencing Data Analysis and a Case-Control Study in Mexican Population Reveals Lipid Trait Associations of New and Known Genetic Variants in Dyslipidemia-Associated Loci

in Genetics of Common and Rare Diseases

Pedro A. Jurado-Camacho
Miguel A. Cid-Soto
Francisco Barajas-Olmos
Humberto García-Ortíz
Paulina Baca-Peynado
Angélica Martínez-Hernández
Federico Centeno-Cruz
Cecilia Contreras-Cubas
María Elena González-Villalpando
Yolanda Saldaña-Álvarez

Frontiers in Genetics

doi 10.3389/fgene.2022.807381

2,959 views
2 citations

Case Report

Published on 20 May 2022

Case Report: Brachydactyly Type A1 Induced by a Novel Variant of in-Frame Insertion in the IHH Gene

in Genetics of Common and Rare Diseases

Feier Zeng
Huan Liu
Xuyang Xia
Yang Shu
Wei Cheng
Heng Xu
Geng Yin
Qibing Xie

Frontiers in Genetics

doi 10.3389/fgene.2022.814786

2,816 views
1 citation

Case Report

Published on 19 May 2022

Child-Onset Cerebellar Ataxia Caused by Two Compound Heterozygous Variants in ADPRS Gene: A Case Report

in Genetics of Common and Rare Diseases

Jiehui Ma
Qiaoqiao Qian
Shuang Yan
Haoyu Dou
Cheng Li
Dan Sun

Frontiers in Genetics

doi 10.3389/fgene.2021.788702

2,543 views
5 citations

Case Report

Published on 18 May 2022

Case Report: Adolescent-Onset Isolated Nephronophthisis Caused by a Novel Homozygous Inversin Mutation

in Genetics of Common and Rare Diseases

Zhengxia Zhong
Xiaoyong Yan
Zhengying Fang
Yijun Dong
Jiaxing Tan
Jingyuan Xie
Linhong Hu
Shibin Zhang
Wei Qin

Frontiers in Genetics

doi 10.3389/fgene.2022.847397

2,073 views
2 citations

Original Research

Published on 18 May 2022

Molecular Genetics and Pathogenesis of the Floating Harbor Syndrome: Case Report of Long-Term Growth Hormone Treatment and a Literature Review

in Genetics of Common and Rare Diseases

Mariia E. Turkunova
Yury A. Barbitoff
Elena A. Serebryakova
Dmitrii E. Polev
Olga S. Berseneva
Elena B. Bashnina
Vladislav S. Baranov
Oleg S. Glotov
Andrey S. Glotov

Frontiers in Genetics

doi 10.3389/fgene.2022.846101

2,681 views
9 citations

Navigation group

Articles

Case Report: Identification Pathogenic Abnormal Splicing of BBS1 Causing Bardet–Biedl Syndrome Type I (BBS1) due to Missense Mutation

Establishment and Phenotypic Analysis of the Novel Gaucher Disease Mouse Model With the Partially Humanized Gba1 Gene and F213I Mutation

Case Report: Balanced Reciprocal Translocation t (17; 22) (p11.2; q11.2) and 10q23.31 Microduplication in an Infertile Male Patient Suffering From Teratozoospermia

Expression of Concern: Novel Genetic Signatures Associated With Sporadic Amyotrophic Lateral Sclerosis

Neuron-Specific Deletion of Scrib in Mice Leads to Neuroanatomical and Locomotor Deficits

Presence of Circulatory Autoantibodies Against ROS-Modified Histone H1 Protein in Lymphoma Patients

Identification of Novel Genetic Variants and Comorbidities Associated With ICD-10-Based Diagnosis of Hypertrophic Cardiomyopathy Using the UK Biobank Cohort

A Connexin Gene (GJB3) Mutation in a Chinese Family With Erythrokeratodermia Variabilis, Ichthyosis and Nonsyndromic Hearing Loss: Case Report and Mutations Update

Case Report: Clinical and Genetic Characteristics of Pearson Syndrome in a Chinese Boy and 139 Patients

MicroRNA Expression in Circulating Leukocytes and Bioinformatic Analysis of Patients With Moyamoya Disease

The Genetic Spectrum of Familial Hypertriglyceridemia in Oman

Exome Sequencing Data Analysis and a Case-Control Study in Mexican Population Reveals Lipid Trait Associations of New and Known Genetic Variants in Dyslipidemia-Associated Loci

Case Report: Brachydactyly Type A1 Induced by a Novel Variant of in-Frame Insertion in the IHH Gene

Child-Onset Cerebellar Ataxia Caused by Two Compound Heterozygous Variants in ADPRS Gene: A Case Report

Case Report: Adolescent-Onset Isolated Nephronophthisis Caused by a Novel Homozygous Inversin Mutation

Molecular Genetics and Pathogenesis of the Floating Harbor Syndrome: Case Report of Long-Term Growth Hormone Treatment and a Literature Review