Frontiers in Genetics | Human and Medical Genomics

Hypothesis and Theory

Published on 04 Jan 2023

Enrichment of titin-truncating variants in exon 327 in dilated cardiomyopathy and its relevance to reduced nonsense-mediated mRNA decay efficiency

in Human and Medical Genomics

Young-gon Kim
Changhee Ha
Sunghwan Shin
Jong-ho Park
Ja-Hyun Jang
Jong-Won Kim

Frontiers in Genetics

doi 10.3389/fgene.2022.1087359

3,106 views
4 citations

Case Report

Published on 04 Jan 2023

Case report: A third variant in the 5′ UTR of TWIST1 creates a novel upstream translation initiation site in a child with Saethre-Chotzen syndrome

in Human and Medical Genomics

Francisca Diaz-Gonzalez
Javier M. Sacedo-Gutiérrez
Stephen R. F. Twigg
Eduardo Calpena
Fernando E. Carceller-Benito
Manuel Parrón-Pajares
Fernando Santos-Simarro
Karen E. Heath

Frontiers in Genetics

doi 10.3389/fgene.2022.1089417

1,963 views
2 citations

Brief Research Report

Published on 04 Jan 2023

siMS score- method for quantification of metabolic syndrome, confirms co-founding factors of metabolic syndrome

in Human and Medical Genomics

V. Dimitrijevic-Sreckovic
H. Petrovic
D. Dobrosavljevic
E. Colak
N. Ivanovic
D. Gostiljac
S. Ilic
D. Nikolic
J. Gacic
I. Soldatovic

Frontiers in Genetics

doi 10.3389/fgene.2022.1041383

3,912 views
7 citations

Review

Published on 04 Jan 2023

Single-cell omics: A new direction for functional genetic research in human diseases and animal models

in Human and Medical Genomics

Siyuan Kong
Rongrong Li
Yunhan Tian
Yaqiu Zhang
Yuhui Lu
Qiaoer Ou
Peiwen Gao
Kui Li
Yubo Zhang

Frontiers in Genetics

doi 10.3389/fgene.2022.1100016

9,708 views
20 citations

Perspective

Published on 15 Dec 2022

Precision medicine implementation challenges for APOL1 testing in chronic kidney disease in admixed populations

in Human and Medical Genomics

Giovanna Câmara Giudicelli
Celia Mariana Barbosa De Souza
Francisco Veríssimo Veronese
Lygia V. Pereira
Tábita Hünemeier
Fernanda Sales Luiz Vianna

Frontiers in Genetics

doi 10.3389/fgene.2022.1016341

3,341 views
4 citations

Case Report

Published on 09 Dec 2022

Case report: A de novo RASopathy-causing SHOC2 variant in a Chinese girl with noonan syndrome-like with loose anagen hair

in Human and Medical Genomics

Qingming Wang
Shuangxi Cheng
Youqing Fu
Haiming Yuan

Frontiers in Genetics

doi 10.3389/fgene.2022.1040124

3,710 views
5 citations

Original Research

Published on 05 Dec 2022

Diagnostic signature, subtype classification, and immune infiltration of key m6A regulators in osteomyelitis patients

in Human and Medical Genomics

Xiangwen Shi
Haonan Ni
Yipeng Wu
Minzheng Guo
Bin Wang
Yue Zhang
Bihuan Zhang
Yongqing Xu

Frontiers in Genetics

doi 10.3389/fgene.2022.1044264

3,069 views
8 citations

Original Research

Published on 05 Dec 2022

Inflammation-related pathways involved in damaged articular cartilage of rats exposed to T-2 toxin based on RNA-sequencing analysis

in Human and Medical Genomics

Longyan Shi
Qiuliang Liu
Heying Yang
Qi Wang
Jiaxiang Wang
Yingzhong Fan

Frontiers in Genetics

doi 10.3389/fgene.2022.1079739

3,276 views
10 citations

Original Research

Published on 01 Dec 2022

Screening and functional analysis of the differential peptides from the placenta of patients with healthy pregnancy and preeclampsia using placental peptidome

in Human and Medical Genomics

Tingting Chen
Zhongxiao Zhang
Qin Lu
Jun Ma

Frontiers in Genetics

doi 10.3389/fgene.2022.1014836

2,311 views
2 citations

Editorial

Published on 01 Dec 2022

Editorial: Genome-wide association studies of COVID-19 among diverse human populations

in Human and Medical Genomics

Zhong-Shan Cheng

Frontiers in Genetics

doi 10.3389/fgene.2022.1088026

2,252 views
1 citation

Original Research

Published on 30 Nov 2022

Targeted screening of genetic associations with COVID-19 susceptibility and severity

in Human and Medical Genomics

Ping Li
Yuehua Ke
Wenlong Shen
Shu Shi
Yahao Wang
Kailin Lin
Xinjie Guo
Changjun Wang
Yan Zhang
Zhihu Zhao

Frontiers in Genetics

doi 10.3389/fgene.2022.1073880

4,276 views
11 citations

Original Research

Published on 29 Nov 2022

The role of angiotensin I converting enzyme insertion/deletion polymorphism in the severity and outcomes of COVID-19 patients

in Human and Medical Genomics

Mitra Rezaei
Hadiseh Mohammadpour
Mahya Eftekhari
Mihan Pourabdollah
Farinaz Nasr Azadani
Payam Tabarsi
Majid Marjani
Seyed Ali Ziai

Frontiers in Genetics

doi 10.3389/fgene.2022.1035796

1,965 views
2 citations

Original Research

Published on 28 Nov 2022

Identification and characterization of novel elastin gene mutations in eleven families with supravalvular aortic stenosis

in Human and Medical Genomics

Jianrong Zhou
Yueheng Wu
Xiaoli Xu
Yong Zhang
Xiong Zhang
Haisheng Chen
Jian Zhuang
Jimei Chen
Yun Teng

Frontiers in Genetics

doi 10.3389/fgene.2022.1059640

3,628 views
7 citations

Case Report

Published on 25 Nov 2022

Case report: Identification of a frameshift mutation in GC enrichment and the GCC repeat region of the androgen insensitivity receptor (AR) gene in a patient with complete androgen insensitivity syndrome by whole-exome sequencing (WES) combined with specific PCR and deep sequencing

in Human and Medical Genomics

Xiaojing He
Qingya Ma
Qiaoli Zhang
Xutao Hong
Ming Qi
Yongkai Li
Xiaodong Li

Frontiers in Genetics

doi 10.3389/fgene.2022.1038997

2,946 views
2 citations

Original Research

Published on 24 Nov 2022

Epigenomic signatures associated with spontaneous and replication stress-induced DNA double strand breaks

in Human and Medical Genomics

Sravan Kodali
Silvia Meyer-Nava
Stephen Landry
Arijita Chakraborty
Juan Carlos Rivera-Mulia
Wenyi Feng

Frontiers in Genetics

doi 10.3389/fgene.2022.907547

3,628 views
2 citations

Review

Published on 24 Nov 2022

Genes in pediatric pulmonary arterial hypertension and the most promising BMPR2 gene therapy

in Human and Medical Genomics

Lingling Dai
Lizhong Du

Frontiers in Genetics

doi 10.3389/fgene.2022.961848

5,663 views
6 citations