Frontiers in Genetics | Human and Medical Genomics

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

2,174 views
7 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

2,395 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

1,487 views
3 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

2,104 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

2,157 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

1,616 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

2,579 views
2 citations

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

3,328 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

2,138 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

1,375 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

1,860 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

10,462 views
14 citations

Original Research

Published on 10 Apr 2024

Development and validation of an interpretable radiomic signature for preoperative estimation of tumor mutational burden in lung adenocarcinoma

in Human and Medical Genomics

Yuwei Zhang
Yichen Yang
Yue Ma
Ying Liu
Zhaoxiang Ye

Frontiers in Genetics

doi 10.3389/fgene.2024.1367434

1,991 views
1 citation

Review

Published on 28 Mar 2024

Review of childhood genetic nephrolithiasis and nephrocalcinosis

in Human and Medical Genomics

Ashley M. Gefen
Joshua J. Zaritsky

Frontiers in Genetics

doi 10.3389/fgene.2024.1381174

6,910 views
3 citations

Original Research

Published on 15 Mar 2024

Impact of deep phenotyping: high diagnostic yield in a diverse pediatric population of 172 patients through clinical whole-genome sequencing at a single center

in Human and Medical Genomics

Ozlem Akgun-Dogan
Ecenur Tuc Bengur
Beril Ay
Gulsah Sebnem Ozkose
Emre Kar
Fuat Baris Bengur
Aybike S. Bulut
Ayca Yigit
Eylul Aydin
Fatma Nisa Esen

Frontiers in Genetics

doi 10.3389/fgene.2024.1347474

4,425 views
1 citation

Original Research

Published on 13 Mar 2024

Long-read sequencing reveals chromothripsis in a molecularly unsolved case of Cornelia de Lange syndrome

in Human and Medical Genomics

Ilaria Bestetti
Milena Crippa
Alessandra Sironi
Matteo Bellini
Francesca Tumiatti
Sara Ballabio
Ferruccio Ceriotti
Luigi Memo
Maria Iascone
Lidia Larizza

Frontiers in Genetics

doi 10.3389/fgene.2024.1358334

3,278 views
2 citations