Frontiers in Genetics | Human and Medical Genomics

Original Research

Published on 14 Jun 2024

Pathogenic variants in human DNA damage repair genes mostly arose after the latest human out-of-Africa migration

in Human and Medical Genomics

Jun He
Si Hoi Kou
Jiaheng Li
Xiaofan Ding
San Ming Wang

Frontiers in Genetics

doi 10.3389/fgene.2024.1408952

1,112 views

Original Research

Published on 12 Jun 2024

Integrative transcriptomic profiling of ncRNAs and mRNAs in developing mouse lens

in Human and Medical Genomics

Liyun Zhang
Xin Liu
Wei Li
Kaiqing Liu
Jing Zhang
Xinhua Liu
Jiantao Wang

Frontiers in Genetics

doi 10.3389/fgene.2024.1405715

1,068 views

Mini Review

Published on 12 Jun 2024

Management of pregnancy in women with monogenic diabetes due to mutations in GCK, HNF1A and HNF4A genes

in Human and Medical Genomics

M. T. Crowley
B. Paponette
S. Bacon
M. M. Byrne

Frontiers in Genetics

doi 10.3389/fgene.2024.1362977

2,074 views
2 citations

Original Research

Published on 06 Jun 2024

Genetic Landscape of SH3TC2 variants in Russian patients with Charcot–Marie–Tooth disease

in Human and Medical Genomics

Olga Shchagina
Aysylu Murtazina
Polina Chausova
Mariya Orlova
Elena Dadali
Sergei Kurbatov
Sergey Kutsev
Aleksander Polyakov

Frontiers in Genetics

doi 10.3389/fgene.2024.1381915

945 views

Original Research

Published on 05 Jun 2024

Delivery of a national prenatal exome sequencing service in England: a mixed methods study exploring healthcare professionals’ views and experiences

in Human and Medical Genomics

Michelle Peter
Rhiannon Mellis
Hannah McInnes-Dean
Morgan Daniel
Holly Walton
Jane Fisher
Kerry Leeson-Beevers
Stephanie Allen
Emma L. Baple
Ana Beleza-Meireles

Frontiers in Genetics

doi 10.3389/fgene.2024.1401705

1,748 views
4 citations

Review

Published on 04 Jun 2024

Molecular mechanisms of human overgrowth and use of omics in its diagnostics: chances and challenges

in Human and Medical Genomics

Dirk Prawitt
Thomas Eggermann

Frontiers in Genetics

doi 10.3389/fgene.2024.1382371

1,889 views
1 citation

Brief Research Report

Published on 23 May 2024

Retrospective study revealed integration of CNV-seq and karyotype analysis is an effective strategy for prenatal diagnosis of chromosomal abnormalities

in Human and Medical Genomics

Yunsheng Ge
Jiayan Chen
Yanru Huang
Di Shao
Wenbo Wang
Meijiao Cai
Meihua Tan
Jian Zhang

Frontiers in Genetics

doi 10.3389/fgene.2024.1387724

1,230 views
2 citations

Case Report

Published on 23 May 2024

Case report: Early use of whole exome sequencing unveils HNRNPU-related neurodevelopmental disorder and answers additional clinical questions through reanalysis

in Human and Medical Genomics

Erika Nicole Dreikorn
Christine Munro
Natasha Robin Berman
Amina Kunovac
Daniel Bellissimo
Mylynda B. Massart

Frontiers in Genetics

doi 10.3389/fgene.2024.1380552

1,704 views

Original Research

Published on 22 May 2024

Host genetics and COVID-19 severity: increasing the accuracy of latest severity scores by Boolean quantum features

in Human and Medical Genomics

Gabriele Martelloni
Alessio Turchi
Chiara Fallerini
Andrea Degl’Innocenti
Margherita Baldassarri
Simona Olmi
Simone Furini
Alessandra Renieri
GEN-COVID Multicenter study
Francesca Mari

Frontiers in Genetics

doi 10.3389/fgene.2024.1362469

1,826 views

Brief Research Report

Published on 17 May 2024

Comparative transcriptomics revealed neurodevelopmental impairments and ferroptosis induced by extremely small iron oxide nanoparticles

in Human and Medical Genomics

Zhaojie Lyu
Yao Kou
Yao Fu
Yuxuan Xie
Bo Yang
Hongjie Zhu
Jing Tian

Frontiers in Genetics

doi 10.3389/fgene.2024.1402771

1,351 views
1 citation

Data Report

Published on 16 May 2024

Assessing the impact of sequencing platforms and analytical pipelines on whole-exome sequencing

in Human and Medical Genomics

Yanping Sun
Xiaochao Zhao
Xue Fan
Miao Wang
Chaoyang Li
Yongfeng Liu
Ping Wu
Qin Yan
Lei Sun

Frontiers in Genetics

doi 10.3389/fgene.2024.1334075

2,014 views
1 citation

Original Research

Published on 15 May 2024

Identifying potential drug targets for varicose veins through integration of GWAS and eQTL summary data

in Human and Medical Genomics

Yu Cui
Mengting Hu
He Zhou
Jiarui Guo
Qijia Wang
Zaihua Xu
Liyun Chen
Wancong Zhang
Shijie Tang

Frontiers in Genetics

doi 10.3389/fgene.2024.1385293

2,942 views
2 citations

Original Research

Published on 10 May 2024

A novel NTRK1 splice site variant causing congenital insensitivity to pain with anhidrosis in a Chinese family

in Human and Medical Genomics

Ling Sun
Jin Dai
Yuan Zhang
Lijun Zhou
Yaqiong Ren
Hongying Wang

Frontiers in Genetics

doi 10.3389/fgene.2024.1345081

1,707 views

Original Research

Published on 06 May 2024

Causal associations of birth body size and adult body size with systemic lupus erythematosus: a bidirectional mendelian randomization study

in Human and Medical Genomics

Juan Peng
Huizi Wang
Yanjuan Li
Xudong Dong

Frontiers in Genetics

doi 10.3389/fgene.2024.1368497

1,208 views

Editorial

Published on 15 Apr 2024

Editorial: Current progress in genomic and genetic research on human viral diseases

in Human and Medical Genomics

Hezhao Ji
Birte Möhlendick
Xiang Gao
Binhua Liang

Frontiers in Genetics

doi 10.3389/fgene.2024.1407559

1,475 views

Review

Published on 11 Apr 2024

Application and perspective of CRISPR/Cas9 genome editing technology in human diseases modeling and gene therapy

in Human and Medical Genomics

Man-Ling Zhang
Hong-Bin Li
Yong Jin

Frontiers in Genetics

doi 10.3389/fgene.2024.1364742

7,844 views
9 citations

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Articles

Pathogenic variants in human DNA damage repair genes mostly arose after the latest human out-of-Africa migration

Integrative transcriptomic profiling of ncRNAs and mRNAs in developing mouse lens

Management of pregnancy in women with monogenic diabetes due to mutations in GCK, HNF1A and HNF4A genes

Genetic Landscape of SH3TC2 variants in Russian patients with Charcot–Marie–Tooth disease

Delivery of a national prenatal exome sequencing service in England: a mixed methods study exploring healthcare professionals’ views and experiences

Molecular mechanisms of human overgrowth and use of omics in its diagnostics: chances and challenges

Retrospective study revealed integration of CNV-seq and karyotype analysis is an effective strategy for prenatal diagnosis of chromosomal abnormalities

Case report: Early use of whole exome sequencing unveils HNRNPU-related neurodevelopmental disorder and answers additional clinical questions through reanalysis

Host genetics and COVID-19 severity: increasing the accuracy of latest severity scores by Boolean quantum features

Comparative transcriptomics revealed neurodevelopmental impairments and ferroptosis induced by extremely small iron oxide nanoparticles

Assessing the impact of sequencing platforms and analytical pipelines on whole-exome sequencing

Identifying potential drug targets for varicose veins through integration of GWAS and eQTL summary data

A novel NTRK1 splice site variant causing congenital insensitivity to pain with anhidrosis in a Chinese family

Causal associations of birth body size and adult body size with systemic lupus erythematosus: a bidirectional mendelian randomization study

Editorial: Current progress in genomic and genetic research on human viral diseases

Application and perspective of CRISPR/Cas9 genome editing technology in human diseases modeling and gene therapy