Frontiers in Genetics | Human and Medical Genomics

Original Research

Published on 17 Jan 2023

Clinical and functional analyses of the novel STAR c.558C>A in a patient with classic lipoid congenital adrenal hyperplasia

in Human and Medical Genomics

Jie Liu
Hong-Mei Dai
Gao-Peng Guang
Wen-Mu Hu
Ping Jin

Frontiers in Genetics

doi 10.3389/fgene.2023.1096454

3,281 views
2 citations

Original Research

Published on 16 Jan 2023

Transferability of the PRS estimates for height and BMI obtained from the European ethnic groups to the Western Russian populations

in Human and Medical Genomics

E. A. Albert
O. A. Kondratieva
E. E. Baranova
O. V. Sagaydak
M. S. Belenikin
G. Y. Zobkova
E. S. Kuznetsova
A. A. Deviatkin
A. A. Zhurov
E. A. Karpulevich

Frontiers in Genetics

doi 10.3389/fgene.2023.1086709

5,068 views
9 citations

Original Research

Published on 13 Jan 2023

Performance of expanded non-invasive prenatal testing for fetal aneuploidies and copy number variations: A prospective study from a single center in Jiangxi province, China

in Human and Medical Genomics

Yongyi Zou
Chuanxin Feng
Jiawei Qin
Xinrong Wang
Tingting Huang
Yan Yang
Kang Xie
Huizhen Yuan
Shuhui Huang
Bicheng Yang

Frontiers in Genetics

doi 10.3389/fgene.2022.1073851

7,503 views
13 citations

Brief Research Report

Published on 12 Jan 2023

Technical feasibility of newborn screening for spinal muscular atrophy by next-generation DNA sequencing

in Human and Medical Genomics

Bennett O. V. Shum
Ilya Henner
Anita Cairns
Carel Pretorius
Urs Wilgen
Paulette Barahona
Jacobus P. J. Ungerer
Glenn Bennett

Frontiers in Genetics

doi 10.3389/fgene.2023.1095600

5,125 views
13 citations

Editorial

Published on 10 Jan 2023

Editorial: Implementation of genomic medicine in Africa: One continent, one vision

in Human and Medical Genomics

Maritha J. Kotze
Tivani P. Mashamba-Thompson
Dawn Stephens

Frontiers in Genetics

doi 10.3389/fgene.2022.1133118

1,855 views
1 citation

Original Research

Published on 10 Jan 2023

A novel non-sense variant in the OFD1 gene caused Joubert syndrome

in Human and Medical Genomics

Chen Li
Xingwang Wang
Fake Li
Hongke Ding
Ling Liu
Ying Xiong
Chaoxiang Yang
Yan Zhang
Jing Wu
Aihua Yin

Frontiers in Genetics

doi 10.3389/fgene.2022.1064762

4,055 views
4 citations

Editorial

Published on 10 Jan 2023

Editorial: Chromosomal fragile sites, genome instability and human diseases

in Human and Medical Genomics

Qing Hu
Advaitha Madireddy
Stefano Gnan
Chun-Long Chen

Frontiers in Genetics

doi 10.3389/fgene.2022.1119532

2,492 views
1 citation

Original Research

Published on 09 Jan 2023

The frequency of somatic mutations in cancer predicts the phenotypic relevance of germline mutations

in Human and Medical Genomics

Edoardo Luigi Draetta
Dejan Lazarević
Paolo Provero
Davide Cittaro

Frontiers in Genetics

doi 10.3389/fgene.2022.1045301

4,298 views
2 citations

Original Research

Published on 09 Jan 2023

The impact of decreased expression of SVEP1 on abnormal neovascularization and poor prognosis in patients with intrahepatic cholangiocarcinoma

in Human and Medical Genomics

Liwei Chen
Yuchao He
Zhiqiang Han
Wenchen Gong
Xiangdong Tian
Lin Guo
Hua Guo
Tianqiang Song
Lu Chen

Frontiers in Genetics

doi 10.3389/fgene.2022.1127753

3,690 views
5 citations

Original Research

Published on 06 Jan 2023

Genome-wide imputed differential expression enrichment analysis identifies trait-relevant tissues

in Human and Medical Genomics

Ammarah Ghaffar
Dale R. Nyholt

Frontiers in Genetics

doi 10.3389/fgene.2022.1008511

3,655 views
2 citations

Original Research

Published on 06 Jan 2023

DeteX: A highly accurate software for detecting SNV and InDel in single and paired NGS data in cancer research

in Human and Medical Genomics

Yunlong Cui
Hongfeng Li
Pengfei Liu
Hailong Wang
Zhenzhen Zhang
Hongzhu Qu
Caijuan Tian
Xiangdong Fang

Frontiers in Genetics

doi 10.3389/fgene.2022.1118183

3,770 views
2 citations

Editorial

Published on 06 Jan 2023

Editorial: Genomic alteration landscapes of aging, metabolic disorders, and cancer: Emerging overlaps and clinical importance

in Human and Medical Genomics

Jaspreet Kaur Dhanjal
Rajkumar Singh Kalra
Dhanendra Tomar
Amrendra K. Ajay

Frontiers in Genetics

doi 10.3389/fgene.2022.1102953

4,475 views
1 citation

Original Research

Published on 06 Jan 2023

Transcriptomic data analysis coupled with copy number aberrations reveals a blood-based 17-gene signature for diagnosis and prognosis of patients with colorectal cancer

in Human and Medical Genomics

Ibrahim H. Kaya
Olfat Al-Harazi
Dilek Colak

Frontiers in Genetics

doi 10.3389/fgene.2022.1031086

4,288 views
1 citation

Original Research

Published on 04 Jan 2023

Genetic screening for hypertension and COVID-19 reveals functional variation of SPEG potentially associated with severe COVID-19 in women

in Human and Medical Genomics

Yu-Si Luo
Xiang-Chun Shen
Wei Li
Guo-Feng Wu
Xiao-Meng Yang
Ming-Yang Guo
Fang Chen
Hu-Yan Shen
Ping-Ping Zhang
Han Gao

Frontiers in Genetics

doi 10.3389/fgene.2022.1041470

3,266 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

2,905 views
3 citations

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

4,206 views
7 citations

Original Research

Published on 04 Jan 2023

How many missed abortions are caused by embryonic chromosomal abnormalities and what are their risk factors?

in Human and Medical Genomics

Xin Li
Han Kang
Huifeng Yin
Tianjiao Liu
Qiannan Hou
Xiaolan Yu
Yuanlin Guo
Wei Shen
Huisheng Ge
Xiaoyan Zeng

Frontiers in Genetics

doi 10.3389/fgene.2022.1058261

8,233 views
6 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

12,832 views
26 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

4,897 views
8 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

4,455 views
5 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

4,872 views
8 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

3,963 views
12 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

4,360 views
11 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

3,068 views
2 citations

846 articles

articles

Clinical and functional analyses of the novel STAR c.558C>A in a patient with classic lipoid congenital adrenal hyperplasia

Transferability of the PRS estimates for height and BMI obtained from the European ethnic groups to the Western Russian populations

Performance of expanded non-invasive prenatal testing for fetal aneuploidies and copy number variations: A prospective study from a single center in Jiangxi province, China

Technical feasibility of newborn screening for spinal muscular atrophy by next-generation DNA sequencing

Editorial: Implementation of genomic medicine in Africa: One continent, one vision

A novel non-sense variant in the OFD1 gene caused Joubert syndrome

Editorial: Chromosomal fragile sites, genome instability and human diseases

The frequency of somatic mutations in cancer predicts the phenotypic relevance of germline mutations

The impact of decreased expression of SVEP1 on abnormal neovascularization and poor prognosis in patients with intrahepatic cholangiocarcinoma

Genome-wide imputed differential expression enrichment analysis identifies trait-relevant tissues

DeteX: A highly accurate software for detecting SNV and InDel in single and paired NGS data in cancer research

Editorial: Genomic alteration landscapes of aging, metabolic disorders, and cancer: Emerging overlaps and clinical importance

Transcriptomic data analysis coupled with copy number aberrations reveals a blood-based 17-gene signature for diagnosis and prognosis of patients with colorectal cancer

Genetic screening for hypertension and COVID-19 reveals functional variation of SPEG potentially associated with severe COVID-19 in women

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

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

How many missed abortions are caused by embryonic chromosomal abnormalities and what are their risk factors?

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

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

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

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

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

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

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