Frontiers in Genetics | Human and Medical Genomics

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

3,899 views
4 citations

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

4,414 views
7 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

4,093 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

4,551 views
5 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

2,263 views
5 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

6,533 views
7 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

3,727 views
1 citation

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

1,922 views
1 citation

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

4,193 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

5,130 views
2 citations

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

2,427 views
3 citations

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

15,623 views
10 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

4,466 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

2,803 views
1 citation

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

3,840 views
2 citations

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

7,823 views
14 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

4,771 views
6 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

3,725 views
5 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

2,375 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

4,208 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

4,899 views
8 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

4,912 views
9 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

3,016 views
2 citations

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

3,671 views
4 citations

846 articles

articles

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

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

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

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

Editorial: Insights in human and medical genomics: 2022

Next-generation sequencing improves precision medicine in hearing loss

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

Mitochondrial DNA heteroplasmy analysis in keratoconus patients from China

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

Pregnancy outcomes and genetic analysis for fetal ventriculomegaly

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

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

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

Editorial: Biomedical application of DNA modifications

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

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

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

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

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

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

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

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

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

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