Frontiers in Genetics | Human and Medical Genomics

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

2,455 views
3 citations

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

2,960 views
1 citation

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

3,597 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

3,283 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

3,803 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

1,528 views
4 citations

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

4,876 views
5 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

2,784 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

1,287 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

3,207 views
1 citation

Original Research

Published on 15 Sep 2023

Pregnancy outcomes and genetic analysis for fetal ventriculomegaly

in Human and Medical Genomics

Huimin Tao
Lin Zhang
Fangfang Tan
Yu Han
Xuezhen Wang
Jiebin Wu
Jingfang Zhai

Frontiers in Genetics

doi 10.3389/fgene.2023.1186660

3,561 views
1 citation

Original Research

Published on 15 Sep 2023

Association study of WNK1 genetic variants and essential hypertension risk in the Northern Han Chinese in Beijing

in Human and Medical Genomics

Kuo Liu
Jielin Liu
Ya Liu
Hao Wang
Zuoguang Wang
Jinghua Liu
Shaojun Wen

Frontiers in Genetics

doi 10.3389/fgene.2023.1234536

1,731 views
1 citation

Perspective

Published on 11 Sep 2023

Rare blood group registry in India-current challenges and future perspectives

in Human and Medical Genomics

Suvro Sankha Datta
Suhasini Sil
Saikat Mandal

Frontiers in Genetics

doi 10.3389/fgene.2023.1264853

13,484 views
6 citations

Editorial

Published on 11 Sep 2023

Editorial: Statistical methods for genome-wide association studies (GWAS) and transcriptome-wide association studies (TWAS) and their applications

in Human and Medical Genomics

Mengting Shao
Zilong Zhang
Huiyan Sun
Jingni He
Juexin Wang
Qingrun Zhang
Chen Cao

Frontiers in Genetics

doi 10.3389/fgene.2023.1287673

3,392 views

Editorial

Published on 08 Sep 2023

Editorial: Biomedical application of DNA modifications

in Human and Medical Genomics

Fengbiao Mao
Husile Baiyin
Jinchen Li
Xiao Chen
Yungang Xu
Chenqi Wang
Chang Li

Frontiers in Genetics

doi 10.3389/fgene.2023.1286185

2,228 views
1 citation

Review

Published on 08 Sep 2023

Characterization and therapeutic perspectives of differentiation-inducing therapy in malignant tumors

in Human and Medical Genomics

Kangwei Zhu
Yuren Xia
Xindi Tian
Yuchao He
Jun Zhou
Ruyu Han
Hua Guo
Tianqiang Song
Lu Chen
Xiangdong Tian

Frontiers in Genetics

doi 10.3389/fgene.2023.1271381

5,035 views
7 citations