Frontiers in Genetics | Human and Medical Genomics

Case Report

Published on 24 Jun 2024

Case report: A case of Rabson–Mendenhall syndrome: long-term follow-up and therapeutic management with empagliflozin

in Human and Medical Genomics

R. Foglino
F. Barbetti
E. Morotti
V. Castorani
A. Rigamonti
G. Frontino
G. Barera
R. Bonfanti

Frontiers in Genetics

doi 10.3389/fgene.2024.1414451

2,568 views
3 citations

Case Report

Published on 18 Jun 2024

Identifying genomic variant associated with long QT syndrome type 2 in an ecuadorian mestizo individual: a case report

in Human and Medical Genomics

Rafael Tamayo-Trujillo
Rita Ibarra-Castillo
José Luis Laso-Bayas
Patricia Guevara-Ramirez
Santiago Cadena-Ullauri
Elius Paz-Cruz
Viviana A. Ruiz-Pozo
Nieves Doménech
Adriana Alexandra Ibarra-Rodríguez
Ana Karina Zambrano

Frontiers in Genetics

doi 10.3389/fgene.2024.1395012

2,946 views
4 citations

Original Research

Published on 18 Jun 2024

Prenatal diagnosis and family analysis of 17q12 microdeletion syndrome with fetal renal abnormalities

in Human and Medical Genomics

Fang Zhang
Qingqing Gu
Jiedong Song
Yali Zhao
Zhiwei Wang
Shuai Men
Leilei Wang

Frontiers in Genetics

doi 10.3389/fgene.2024.1401315

2,466 views

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

1,915 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

1,706 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

4,197 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

1,702 views
1 citation

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

2,963 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

3,201 views
2 citations

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

2,251 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

2,771 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

3,120 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

2,201 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

3,755 views
4 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

4,174 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

3,154 views
1 citation