Frontiers in Genetics | Human and Medical Genomics

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

3,684 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

1,456 views
3 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

4,556 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

2,704 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

1,216 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

3,125 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

3,322 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

1,656 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

13,054 views
5 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

3,244 views

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

4,667 views
6 citations

Original Research

Published on 08 Sep 2023

Identification of potential key variants in mandibular premolar hypodontia through whole-exome sequencing

in Human and Medical Genomics

Shinyeop Lee
Hyunsoo Ahn
Hyeonhye Kim
Kwanghwan Lee
Sanguk Kim
Jae Hoon Lee

Frontiers in Genetics

doi 10.3389/fgene.2023.1248326

2,588 views
1 citation

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

2,132 views

Original Research

Published on 07 Sep 2023

ABCA4 c.6480-35A>G, a novel branchpoint variant associated with Stargardt disease

in Human and Medical Genomics

María Rodríguez-Hidalgo
Suzanne E. de Bruijn
Zelia Corradi
Kim Rodenburg
Araceli Lara-López
Alicia Valverde-Megías
Almudena Ávila-Fernández
Lidia Fernandez-Caballero
Marta Del Pozo-Valero
Jordi Corominas

Frontiers in Genetics

doi 10.3389/fgene.2023.1234032

3,660 views
3 citations

Original Research

Published on 05 Sep 2023

eoPred: predicting the placental phenotype of early-onset preeclampsia using public DNA methylation data

in Human and Medical Genomics

I. Fernández-Boyano
A. M. Inkster
V. Yuan
W. P. Robinson

Frontiers in Genetics

doi 10.3389/fgene.2023.1248088

2,689 views
2 citations

Case Report

Published on 31 Aug 2023

Case report: identification of one frameshift variant and two in cis non-canonical splice variants of NEB gene in prenatal arthrogryposis

in Human and Medical Genomics

Yuefang Liu
Juan Xu
Qiaoyi Lv
Zhe Liang
Lingling Li
Qiong Pan

Frontiers in Genetics

doi 10.3389/fgene.2023.1220170

1,591 views