Frontiers in Genetics | Human and Medical Genomics

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

2,947 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

3,001 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

1,595 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

12,511 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

3,022 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

1,997 views

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

2,417 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

4,209 views
4 citations

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

3,487 views
2 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

2,601 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

1,493 views

Original Research

Published on 31 Aug 2023

Transcriptome profiling of intact bowel wall reveals that PDE1A and SEMA3D are possible markers with roles in enteric smooth muscle apoptosis, proliferative disorders, and dysautonomia in Crohn’s disease

in Human and Medical Genomics

Yun Yang
Lin Xia
Wenming Yang
Ziqiang Wang
Wenjian Meng
Mingming Zhang
Qin Ma
Junhe Gou
Junjian Wang
Ye Shu

Frontiers in Genetics

doi 10.3389/fgene.2023.1194882

3,083 views

Original Research

Published on 29 Aug 2023

Identification of human genetic variants modulating the course of COVID-19 infection with importance in other viral infections

in Human and Medical Genomics

Lana Salihefendić
Ivana Čeko
Larisa Bešić
Naida Mulahuseinović
Selma Durgut
Dino Pećar
Lejla Prnjavorac
Enis Kandić
Neven Meseldžić
Tamer Bego

Frontiers in Genetics

doi 10.3389/fgene.2023.1240245

3,560 views
6 citations

Original Research

Published on 29 Aug 2023

Clinical and genetic features of Koreans with retinitis pigmentosa associated with mutations in rhodopsin

in Human and Medical Genomics

Young Hoon Jung
Jay Jiyong Kwak
Kwangsic Joo
Hyuk Jun Lee
Kyu Hyung Park
Min Seok Kim
Eun Kyoung Lee
Suk Ho Byeon
Christopher Seungkyu Lee
Jinu Han

Frontiers in Genetics

doi 10.3389/fgene.2023.1240067

3,487 views
6 citations

Original Research

Published on 25 Aug 2023

Functional analysis of a novel nonsense variant c.91A>T of the TRAPPC2 gene in a Chinese family with X-linked recessive autosomal spondyloepiphyseal dysplasia tarda

in Human and Medical Genomics

Guiyu Lou
Yuanyin Zhao
Huiru Zhao
Yuwei Zhang
Bingtao Hao
Litao Qin
Hongyan Liu
Shixiu Liao

Frontiers in Genetics

doi 10.3389/fgene.2023.1216592

1,964 views

Case Report

Published on 25 Aug 2023

Another de novo mutation in the SOD1 gene: the first Turkish patient with SOD1-His47Arg, a case report

in Human and Medical Genomics

Elif Bayraktar
Vildan Çiftçi
Hilmi Uysal
A. Nazlı Başak

Frontiers in Genetics

doi 10.3389/fgene.2023.1208673

2,579 views
3 citations