Frontiers in Genetics | Human and Medical Genomics

Original Research

Published on 03 Nov 2023

Comparative analyses of salivary exosomal miRNAs for patients with or without lung cancer

in Human and Medical Genomics

Mengfeng Liu
Xiran Yu
Jianlong Bu
Qifan Xiao
Sitong Ma
Naozhong Chen
Changfa Qu

Frontiers in Genetics

doi 10.3389/fgene.2023.1249678

2,140 views
8 citations

Original Research

Published on 01 Nov 2023

Construction of predictive model of interstitial fibrosis and tubular atrophy after kidney transplantation with machine learning algorithms

in Human and Medical Genomics

Yu Yin
Congcong Chen
Dong Zhang
Qianguang Han
Zijie Wang
Zhengkai Huang
Hao Chen
Li Sun
Shuang Fei
Jun Tao

Frontiers in Genetics

doi 10.3389/fgene.2023.1276963

2,588 views
1 citation

Original Research

Published on 31 Oct 2023

ODAD1 variants resulting from splice-site mutations retain partial function and cause primary ciliary dyskinesia with outer dynein arm defects

in Human and Medical Genomics

Nannan Zhou
Weilin Liang
Yanzhu Zhang
Guoli Quan
Ting Li
Siqing Huang
Yating Huo
Haiyan Cui
Yuanxiong Cheng

Frontiers in Genetics

doi 10.3389/fgene.2023.1270278

1,963 views

Opinion

Published on 26 Oct 2023

Absence of Association between a Long COVID and Severe COVID-19 Risk Variant of FOXP4 and Lung Cancer

in Human and Medical Genomics

Yu-Si Luo
Ke Zhang
Zhong-Shan Cheng

Frontiers in Genetics

doi 10.3389/fgene.2023.1258829

3,509 views
5 citations

Case Report

Published on 20 Oct 2023

CEP55-associated lethal fetal syndrome: a case report of a Chinese family

in Human and Medical Genomics

Yeping Wang
Fang Sheng
Lingjing Ying
Qiaoli Lou
Zhaonan Yu
Kaixuan Wang
Haoyi Wang

Frontiers in Genetics

doi 10.3389/fgene.2023.1267241

2,759 views
2 citations

Brief Research Report

Published on 19 Oct 2023

Identification and functional characterization of de novo variant in the SYNGAP1 gene causing intellectual disability

in Human and Medical Genomics

Boxuan Li
Yu Wang
Dong Hou
Zhen Song
Lihua Zhang
Na Li
Ruifang Yang
Ping Sun

Frontiers in Genetics

doi 10.3389/fgene.2023.1270175

2,660 views

Case Report

Published on 17 Oct 2023

Case report: Paternal uniparental disomy on chromosome 7 and homozygous SUGCT mutation in a fetus with overweight after birth

in Human and Medical Genomics

Xiufen Bu
Xu Li
Can Peng
Hongyu Li
Shihao Zhou
Zesen Zhu
Jun He
Siyuan Linpeng

Frontiers in Genetics

doi 10.3389/fgene.2023.1272028

2,178 views
1 citation

Original Research

Published on 12 Oct 2023

Participation in genetic screening: testing different outreach methods across a diverse hospital system based patient population

in Human and Medical Genomics

Lindsay Dickey
Ben Gronowski
Kyle Jones
J. B. Rinaldi
Kate Emery
Jon Clemens
Ora Gordon
Keri Vartanian

Frontiers in Genetics

doi 10.3389/fgene.2023.1272931

2,643 views

Original Research

Published on 03 Oct 2023

The genetics of urinary microbiome, an exploration of the trigger in calcium oxalate stone

in Human and Medical Genomics

Yuanyuan Yang
Lintao Miao
Yuchao Lu
Shaogang Wang

Frontiers in Genetics

doi 10.3389/fgene.2023.1260278

3,322 views
2 citations

Original Research

Published on 03 Oct 2023

Comprehensive molecular expression profiling of SARS-CoV-associated factors in the endometrium across the menstrual cycle and elevated susceptibility in women with recurrent pregnancy loss

in Human and Medical Genomics

Ruofan Qi
Rui Guan
Shengyun Cai
Mingjuan Xu
Wen-jui Yang
Chi Chiu Wang

Frontiers in Genetics

doi 10.3389/fgene.2023.1246725

3,068 views
4 citations

Original Research

Published on 27 Sep 2023

Target-capture full-length double-stranded cDNA long-read sequencing through Nanopore revealed novel intron retention in patient with tuberous sclerosis complex

in Human and Medical Genomics

Hiroki Ura
Sumihito Togi
Yo Niida

Frontiers in Genetics

doi 10.3389/fgene.2023.1256064

3,572 views
4 citations

Editorial

Published on 25 Sep 2023

Editorial: Insights in human and medical genomics: 2022

in Human and Medical Genomics

Jared C. Roach
Maxim B. Freidin

Frontiers in Genetics

doi 10.3389/fgene.2023.1287894

1,396 views
1 citation

Original Research

Published on 22 Sep 2023

Next-generation sequencing improves precision medicine in hearing loss

in Human and Medical Genomics

T. Imizcoz
C. Prieto-Matos
R. Manrique-Huarte
D. Calavia
A. Huarte
P. C. Pruneda
G. R. Ordoñez
E. Cañada-Higueras
A. Patiño-García
G. Alkorta-Aranburu

Frontiers in Genetics

doi 10.3389/fgene.2023.1264899

4,308 views
4 citations

Case Report

Published on 19 Sep 2023

Case report: a novel deep intronic splice-altering variant in DMD as a cause of Becker muscular dystrophy

in Human and Medical Genomics

Shala Ghaderi Berntsson
Hans Matsson
Anna Kristoffersson
Valter Niemelä
Hermine A. van Duyvenvoorde
Cindy Richel-van Assenbergh
Heleen M. van der Klift
Olivera Casar-Borota
Carina Frykholm
Anne-Marie Landtblom

Frontiers in Genetics

doi 10.3389/fgene.2023.1226766

2,590 views

Original Research

Published on 18 Sep 2023

Mitochondrial DNA heteroplasmy analysis in keratoconus patients from China

in Human and Medical Genomics

Liyan Xu
Kaili Yang
Qi Fan
Yuwei Gu
Shengwei Ren

Frontiers in Genetics

doi 10.3389/fgene.2023.1251951

1,167 views

Original Research

Published on 18 Sep 2023

Exome sequencing identified novel variants in three Chinese patients with 5,10-methenyltetrahydrofolate synthetase deficiency

in Human and Medical Genomics

Xiaoyan Xu
Jing Zhu
Liwei Fang
Zhuo Zou
Jingjing Yuan
Min Peng
Guoliang Yu
De Wu
Yun Liu
Jiulai Tang

Frontiers in Genetics

doi 10.3389/fgene.2023.1236849

2,862 views
1 citation