Frontiers in Genetics | Human and Medical Genomics

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

4,795 views
9 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

3,599 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

4,444 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

7,555 views
8 citations

Original Research

Published on 24 Nov 2022

Analyzing the Korean reference genome with meta-imputation increased the imputation accuracy and spectrum of rare variants in the Korean population

in Human and Medical Genomics

Mi Yeong Hwang
Nak-Hyeon Choi
Hong Hee Won
Bong-Jo Kim
Young Jin Kim

Frontiers in Genetics

doi 10.3389/fgene.2022.1008646

5,578 views
19 citations

Original Research

Published on 22 Nov 2022

Causal effects of homocysteine levels on the components of sarcopenia: A two-sample mendelian randomization study

in Human and Medical Genomics

Hongwei Yu
Gan Luo
Tianwei Sun
Qiong Tang

Frontiers in Genetics

doi 10.3389/fgene.2022.1051047

6,002 views
10 citations

Original Research

Published on 22 Nov 2022

Identifying key m6A-methylated lncRNAs and genes associated with neural tube defects via integrative MeRIP and RNA sequencing analyses

in Human and Medical Genomics

Jing Yang
Jing Xu
Luting Zhang
Yingting Li
Min Chen

Frontiers in Genetics

doi 10.3389/fgene.2022.974357

4,043 views
5 citations

Original Research

Published on 22 Nov 2022

Identification of subtypes of hepatocellular carcinoma and screening of prognostic molecular diagnostic markers based on cell adhesion molecule related genes

in Human and Medical Genomics

Ruge Sun
Yanchao Gao
Fengjun Shen

Frontiers in Genetics

doi 10.3389/fgene.2022.1042540

4,505 views
4 citations

Editorial

Published on 18 Nov 2022

Editorial: Cancer systems biology

in Human and Medical Genomics

Jesús Espinal-Enríquez
Claudia Rangel-Escareño
Frank Emmert-Streib

Frontiers in Genetics

doi 10.3389/fgene.2022.1083902

3,293 views

Original Research

Published on 18 Nov 2022

Abnormal expression of TSG-6 disturbs extracellular matrix homeostasis in chondrocytes from endemic osteoarthritis

in Human and Medical Genomics

Yujie Ning
Pan Zhang
Feiyu Zhang
Sijie Chen
Yanli Liu
Feihong Chen
Yifan Wu
Shujin Li
Chaowei Wang
Yi Gong

Frontiers in Genetics

doi 10.3389/fgene.2022.1064565

5,605 views
16 citations

Case Report

Published on 18 Nov 2022

Case report and a brief review: Analysis and challenges of prenatal imaging phenotypes and genotypes in Joubert syndrome

in Human and Medical Genomics

Ling-Xi Huang
Xian-Gui Lu
Jiao-Xiang Liu
Ling Xu
Ning Shang
Li Guo
Yan-Chun OuYang

Frontiers in Genetics

doi 10.3389/fgene.2022.1038274

4,197 views
12 citations

Original Research

Published on 17 Nov 2022

Integration of small RNAs from plasma and cerebrospinal fluid for classification of multiple sclerosis

in Human and Medical Genomics

Maria Needhamsen
Payam Emami Khoonsari
Galina Yurevna Zheleznyakova
Eliane Piket
Michael Hagemann-Jensen
Yanan Han
Jannik Gierlich
Diana Ekman
Maja Jagodic

Frontiers in Genetics

doi 10.3389/fgene.2022.1042483

3,474 views
2 citations

Original Research

Published on 17 Nov 2022

Identification of four novel variants in the CDH23 gene from four affected families with hearing loss

in Human and Medical Genomics

Baoling Kang
Xinshu Lu
Jianjun Xiong
Yuan Li
Jinwen Zhu
Tao Cai

Frontiers in Genetics

doi 10.3389/fgene.2022.1027396

3,492 views
8 citations

Brief Research Report

Published on 14 Nov 2022

Establishment of transgenic pigs overexpressing human PKD2-D511V mutant

in Human and Medical Genomics

Yuan Zhang
Saifei Xu
Qiao Jin
Jianing Luo
Ce Gao
Sakthidasan Jayaprakash
Huanan Wang
Lenan Zhuang
Jin He

Frontiers in Genetics

doi 10.3389/fgene.2022.1059682

2,646 views

Case Report

Published on 09 Nov 2022

Case Report: Novel pathogenic variant in NFIX in two sisters with Malan syndrome due to germline mosaicism

in Human and Medical Genomics

Elizabeth Langley
Laura S. Farach
Kate Mowrey

Frontiers in Genetics

doi 10.3389/fgene.2022.1044660

2,691 views
3 citations

Original Research

Published on 09 Nov 2022

Congenital absence of the vas deferens with hypospadias or without hypospadias: Phenotypic findings and genetic considerations

in Human and Medical Genomics

Jianzheng Fang
Xiaoyi Wang
Xueping Sun
Yugui Cui
Feiyang Diao
Xiaoyu Yang

Frontiers in Genetics

doi 10.3389/fgene.2022.1035468

4,837 views
4 citations

Review

Published on 08 Nov 2022

Clinical detection, diagnosis and treatment of morphological abnormalities of sperm flagella: A review of literature

in Human and Medical Genomics

Jiaxiong Wang
Weizhuo Wang
Liyan Shen
Aiyan Zheng
Qingxia Meng
Hong Li
Shenmin Yang

Frontiers in Genetics

doi 10.3389/fgene.2022.1034951

10,065 views
33 citations

Original Research

Published on 07 Nov 2022

Dissecting the multifaceted contribution of the mitochondrial genome to autism spectrum disorder

in Human and Medical Genomics

Leonardo Caporali
Claudio Fiorini
Flavia Palombo
Martina Romagnoli
Flavia Baccari
Corrado Zenesini
Paola Visconti
Annio Posar
Maria Cristina Scaduto
Danara Ormanbekova

Frontiers in Genetics

doi 10.3389/fgene.2022.953762

3,973 views
9 citations

Case Report

Published on 31 Oct 2022

Case Report: Prenatal diagnosis of fetal tetrasomy 9p initially identified by non-invasive prenatal testing

in Human and Medical Genomics

Jialing Yu
Na Chen
Min Chen
Min Shen
Yeqing Qian
Minyue Dong

Frontiers in Genetics

doi 10.3389/fgene.2022.1020525

3,298 views
1 citation

Editorial

Published on 28 Oct 2022

Editorial: Genetics and mechanism of ciliopathies

in Human and Medical Genomics

Steven Lim Cho Pei
Brian Hon Yin Chung

Frontiers in Genetics

doi 10.3389/fgene.2022.1067168

2,533 views

Original Research

Published on 26 Oct 2022

Genetic variants associated with circulating liver injury markers in Mexican Americans, a population at risk for non-alcoholic fatty liver disease

in Human and Medical Genomics

Caroline M. Sabotta
Suet-Ying Kwan
Lauren E. Petty
Jennifer E. Below
Aron Joon
Peng Wei
Susan P. Fisher-Hoch
Joseph B. McCormick
Laura Beretta

Frontiers in Genetics

doi 10.3389/fgene.2022.995488

5,786 views
14 citations

Original Research

Published on 26 Oct 2022

Association of toll-like receptors polymorphisms with COPD risk in Chinese population

in Human and Medical Genomics

Shulei Sun
Yuehao Shen
Jing Feng

Frontiers in Genetics

doi 10.3389/fgene.2022.955810

2,397 views
4 citations

Editorial

Published on 24 Oct 2022

Editorial: Can population health be personalized? Estonia and Finland as examples

in Human and Medical Genomics

Helena Kääriäinen
Andres Metspalu
Markus Perola

Frontiers in Genetics

doi 10.3389/fgene.2022.1051085

2,030 views

Editorial

Published on 24 Oct 2022

Editorial: DNA-based population screening for precision public health

in Human and Medical Genomics

Laura V. Milko
Muin J. Khoury

Frontiers in Genetics

doi 10.3389/fgene.2022.1061329

4,235 views
10 citations

843 articles

articles

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

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

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

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

Analyzing the Korean reference genome with meta-imputation increased the imputation accuracy and spectrum of rare variants in the Korean population

Causal effects of homocysteine levels on the components of sarcopenia: A two-sample mendelian randomization study

Identifying key m6A-methylated lncRNAs and genes associated with neural tube defects via integrative MeRIP and RNA sequencing analyses

Identification of subtypes of hepatocellular carcinoma and screening of prognostic molecular diagnostic markers based on cell adhesion molecule related genes

Editorial: Cancer systems biology

Abnormal expression of TSG-6 disturbs extracellular matrix homeostasis in chondrocytes from endemic osteoarthritis

Case report and a brief review: Analysis and challenges of prenatal imaging phenotypes and genotypes in Joubert syndrome

Integration of small RNAs from plasma and cerebrospinal fluid for classification of multiple sclerosis

Identification of four novel variants in the CDH23 gene from four affected families with hearing loss

Establishment of transgenic pigs overexpressing human PKD2-D511V mutant

Case Report: Novel pathogenic variant in NFIX in two sisters with Malan syndrome due to germline mosaicism

Congenital absence of the vas deferens with hypospadias or without hypospadias: Phenotypic findings and genetic considerations

Clinical detection, diagnosis and treatment of morphological abnormalities of sperm flagella: A review of literature

Dissecting the multifaceted contribution of the mitochondrial genome to autism spectrum disorder

Case Report: Prenatal diagnosis of fetal tetrasomy 9p initially identified by non-invasive prenatal testing

Editorial: Genetics and mechanism of ciliopathies

Genetic variants associated with circulating liver injury markers in Mexican Americans, a population at risk for non-alcoholic fatty liver disease

Association of toll-like receptors polymorphisms with COPD risk in Chinese population

Editorial: Can population health be personalized? Estonia and Finland as examples

Editorial: DNA-based population screening for precision public health