Systematic Review

Published on 13 Oct 2022

Association between genetic variants (rs920778, rs4759314, and rs217727) in LncRNAs and cervical cancer susceptibility in Chinese population: A systematic review and meta-analysis

in Genetics of Common and Rare Diseases

Yi Liu
Qian Zhang
Rong Ni

Frontiers in Genetics

doi 10.3389/fgene.2022.988207

1,495 views
3 citations

Original Research

Published on 13 Oct 2022

Sleep disturbances correlate with behavioral problems among individuals with Wiedemann-Steiner syndrome

in Genetics of Common and Rare Diseases

Rowena Ng
Hans Tomas Bjornsson
Jill A. Fahrner
Jacqueline Harris

Frontiers in Genetics

doi 10.3389/fgene.2022.950082

2,778 views
3 citations

Original Research

Published on 12 Oct 2022

The development of a novel signature based on the m6A RNA methylation regulator-related ceRNA network to predict prognosis and therapy response in sarcomas

in Genetics of Common and Rare Diseases

Huling Li
Dandan Lin
Xiaoyan Wang
Zhiwei Feng
Jing Zhang
Kai Wang

Frontiers in Genetics

doi 10.3389/fgene.2022.894080

1,968 views
3 citations

Original Research

Published on 12 Oct 2022

Biphasic cell cycle defect causes impaired neurogenesis in down syndrome

in Genetics of Common and Rare Diseases

Vishi Sharma
Sunita Nehra
Long H. Do
Anwesha Ghosh
Aniruddha J. Deshpande
Nishant Singhal

Frontiers in Genetics

doi 10.3389/fgene.2022.1007519

3,055 views
3 citations

Original Research

Published on 12 Oct 2022

Genotypic spectrum underlying tetrahydrobiopterin metabolism defects: Experience in a single Mexican reference center

in Genetics of Common and Rare Diseases

M. Vela-Amieva
M. A. Alcántara-Ortigoza
I. Ibarra-González
A. González-del Angel
L. Fernández-Hernández
S. Guillén-López
L. López-Mejía
R. I. Carrillo-Nieto
M. O. Fiesco-Roa
C. Fernández-Lainez

Frontiers in Genetics

doi 10.3389/fgene.2022.993612

2,008 views
4 citations

Editorial

Published on 12 Oct 2022

Editorial: Genetics of familial hypercholesterolemia: New insight—Volume II

in Genetics of Common and Rare Diseases

Alpo Vuorio
Uma Ramaswami
Kirsten B. Holven

Frontiers in Genetics

doi 10.3389/fgene.2022.1041342

1,689 views

Original Research

Published on 11 Oct 2022

Pathogenic variants of ornithine transcarbamylase deficiency: Nation-wide study in Japan and literature review

in Genetics of Common and Rare Diseases

Jun Kido
Keishin Sugawara
Takaaki Sawada
Shirou Matsumoto
Kimitoshi Nakamura

Frontiers in Genetics

doi 10.3389/fgene.2022.952467

4,726 views
1 citation

Case Report

Published on 10 Oct 2022

Case Report: De novo DDX3X mutation caused intellectual disability in a female with skewed X-chromosome inactivation on the mutant allele

in Genetics of Common and Rare Diseases

Yixi Sun
Yangwen Qian
Hai-Xi Sun
Min Chen
Yuqin Luo
Xiaojing Xu
Kai Yan
Liya Wang
Junjie Hu
Minyue Dong

Frontiers in Genetics

doi 10.3389/fgene.2022.999442

2,462 views
2 citations

Original Research

Published on 10 Oct 2022

The interconnected relationships between middle ear bulla size, cavitation defects, and chronic otitis media revealed in a syndromic mouse model

in Genetics of Common and Rare Diseases

Juan M. Fons
Natalie J. Milmoe
Michael R. G. Dack
Leena Joshi
Hannah Thompson
Abigail S. Tucker

Frontiers in Genetics

doi 10.3389/fgene.2022.933416

2,461 views
7 citations

Original Research

Published on 07 Oct 2022

Investigation of the biomarkers involved in ectopic ossification: The shared mechanism in ossification of the spinal ligament

in Genetics of Common and Rare Diseases

Jiachen Liu
Yunxia Chen
Xiuqi Shan
Huan Wang

Frontiers in Genetics

doi 10.3389/fgene.2022.991834

3,223 views
2 citations

Review

Published on 07 Oct 2022

Evidence for a genetic contribution to the ossification of spinal ligaments in Ossification of Posterior Longitudinal Ligament and Diffuse idiopathic skeletal hyperostosis: A narrative review

in Genetics of Common and Rare Diseases

Ana Rita Couto
Bruna Parreira
Deborah M. Power
Luís Pinheiro
João Madruga Dias
Irina Novofastovski
Iris Eshed
Piercarlo Sarzi-Puttini
Nicola Pappone
Fabiola Atzeni

Frontiers in Genetics

doi 10.3389/fgene.2022.987867

4,122 views
2 citations

Original Research

Published on 07 Oct 2022

Intergenomic and epistatic interactions control free radical mediated pancreatic β-cell damage

in Genetics of Common and Rare Diseases

Jing Chen
Renhua Li
Sarah Knapp
Guizhi Zhu
Robert L. Whitener
Edward H. Leiter
Clayton E. Mathews

Frontiers in Genetics

doi 10.3389/fgene.2022.994501

1,702 views

Case Report

Published on 07 Oct 2022

Case Report: Novel splicing mutations in RFX5 causing MHC class II deficiency

in Genetics of Common and Rare Diseases

Shan Chen
Yuqing Xu
Yeqing Qian
Zhaohui Li
Minyue Dong

Frontiers in Genetics

doi 10.3389/fgene.2022.978688

2,431 views
1 citation

Systematic Review

Published on 06 Oct 2022

Identification of genetic variants in five chinese families with keratoconus: Pathogenicity analysis and characteristics of parental corneal topography

in Genetics of Common and Rare Diseases

Wan-Yu Cheng
Shang-Ying Yang
Xiao-Yu Huang
Fei-Yin Zi
Hui-Ping Li
Xun-Lun Sheng

Frontiers in Genetics

doi 10.3389/fgene.2022.978684

2,084 views
5 citations

Original Research

Published on 06 Oct 2022

Neurobehavioral phenotype of Kabuki syndrome: Anxiety is a common feature

in Genetics of Common and Rare Diseases

Allison J. Kalinousky
Tyler Rapp
Hadia Hijazi
Jennifer Johnson
Hans Tomas Bjornsson
Jacqueline R. Harris

Frontiers in Genetics

doi 10.3389/fgene.2022.1007046

3,102 views
7 citations

Review

Published on 06 Oct 2022

Pathogenic mitochondrial DNA 3243A>G mutation: From genetics to phenotype

in Genetics of Common and Rare Diseases

Danyang Li
Chunmei Liang
Tao Zhang
Jordan Lee Marley
Weiwei Zou
Muqing Lian
Dongmei Ji

Frontiers in Genetics

doi 10.3389/fgene.2022.951185

11,977 views
26 citations

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Articles

Association between genetic variants (rs920778, rs4759314, and rs217727) in LncRNAs and cervical cancer susceptibility in Chinese population: A systematic review and meta-analysis

Sleep disturbances correlate with behavioral problems among individuals with Wiedemann-Steiner syndrome

The development of a novel signature based on the m6A RNA methylation regulator-related ceRNA network to predict prognosis and therapy response in sarcomas

Biphasic cell cycle defect causes impaired neurogenesis in down syndrome

Genotypic spectrum underlying tetrahydrobiopterin metabolism defects: Experience in a single Mexican reference center

Editorial: Genetics of familial hypercholesterolemia: New insight—Volume II

Pathogenic variants of ornithine transcarbamylase deficiency: Nation-wide study in Japan and literature review

Case Report: De novo DDX3X mutation caused intellectual disability in a female with skewed X-chromosome inactivation on the mutant allele

The interconnected relationships between middle ear bulla size, cavitation defects, and chronic otitis media revealed in a syndromic mouse model

Investigation of the biomarkers involved in ectopic ossification: The shared mechanism in ossification of the spinal ligament

Evidence for a genetic contribution to the ossification of spinal ligaments in Ossification of Posterior Longitudinal Ligament and Diffuse idiopathic skeletal hyperostosis: A narrative review

Intergenomic and epistatic interactions control free radical mediated pancreatic β-cell damage

Case Report: Novel splicing mutations in RFX5 causing MHC class II deficiency

Identification of genetic variants in five chinese families with keratoconus: Pathogenicity analysis and characteristics of parental corneal topography

Neurobehavioral phenotype of Kabuki syndrome: Anxiety is a common feature

Pathogenic mitochondrial DNA 3243A>G mutation: From genetics to phenotype