Frontiers in Genetics | Human and Medical Genomics

Review

Published on 26 Jul 2024

Management of triple-negative breast cancer by natural compounds through different mechanistic pathways

in Human and Medical Genomics

Mohammed Kaleem
Mandar Thool
Nitin G. Dumore
Abdulrasheed O. Abdulrahman
Wasim Ahmad
Amal Almostadi
Mohammad Hassan Alhashmi
Mohammad Amjad Kamal
Shams Tabrez

Frontiers in Genetics

doi 10.3389/fgene.2024.1440430

4,018 views

Case Report

Published on 25 Jul 2024

Dilated cardiomyopathy caused by mutation of the PNPLA2 gene: a case report and literature review

in Human and Medical Genomics

Shuai Wang
Sha Wu
Daoquan Peng

Frontiers in Genetics

doi 10.3389/fgene.2024.1415156

1,456 views

Perspective

Published on 24 Jul 2024

Perspectives from cystinosis: access to healthcare may be a confounding factor for variant classification

in Human and Medical Genomics

Chen-Han Wilfred Wu
Alicja Tomaszewski
Louisa Stark
Fernando Scaglia
Ewa Elenberg
Fredrick R. Schumaker

Frontiers in Genetics

doi 10.3389/fgene.2024.1402667

1,282 views

Original Research

Published on 18 Jul 2024

Gaining new insights into the etiology of ulcerative colitis through a cross-tissue transcriptome-wide association study

in Human and Medical Genomics

Shijie Ren
Chaodi Sun
Wenjing Zhai
Wenli Wei
Jianping Liu

Frontiers in Genetics

doi 10.3389/fgene.2024.1425370

2,463 views
2 citations

Case Report

Published on 17 Jul 2024

A novel SSR4 variant associated with congenital disorder of glycosylation: a case report and related analysis

in Human and Medical Genomics

Wenqiang Sun
Xinyun Jin
Xueping Zhu

Frontiers in Genetics

doi 10.3389/fgene.2024.1402883

1,351 views
1 citation

Original Research

Published on 15 Jul 2024

MFRP variations cause nanophthalmos in five Chinese families with distinct phenotypic diversity

in Human and Medical Genomics

Zhen Li
Runqing Ma
Meijiao Ma
Xue Xiao
Xiaolong Qi
Hongjuan Ma
Xunlun Sheng
Weining Rong

Frontiers in Genetics

doi 10.3389/fgene.2024.1407361

1,544 views

Original Research

Published on 09 Jul 2024

Identification of disulfidptosis- and ferroptosis-related transcripts in periodontitis by bioinformatics analysis and experimental validation

in Human and Medical Genomics

Yu Fu
Tingrui Xu
Mengru Guo
Wenhao Lv
Ning Ma
Li Zhang

Frontiers in Genetics

doi 10.3389/fgene.2024.1402663

1,845 views
2 citations

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

1,706 views
1 citation

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

2,130 views
3 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

1,497 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

1,286 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

1,180 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

2,552 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

1,099 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

2,063 views
6 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

2,249 views
1 citation