Frontiers in Genetics | Human and Medical Genomics

Original Research

Published on 22 Dec 2023

Variant spectrum of F8 and F9 in hemophilia patients from southern China and 26 novel variants

in Human and Medical Genomics

Fucheng Li
Liya He
Guilan Chen
Yan Lu
Ru Li
Yongling Zhang
Xiangyi Jing
Rujuan Ling
Dongzhi Li
Can Liao

Frontiers in Genetics

doi 10.3389/fgene.2023.1254265

3,167 views

Case Report

Published on 21 Dec 2023

Case report: Complete paternal isodisomy on chromosome 18 induces methylation changes in PARD6G-AS1 promotor in a case with arthrogryposis

in Human and Medical Genomics

Johanna Moch
Maximilian Radtke
Janina Gburek-Augustat
Maike Karnstedt
Senta Schönnagel
Stephan H. Drukewitz
Laura Pilgram
Julia Hentschel
Isabell Schumann

Frontiers in Genetics

doi 10.3389/fgene.2023.1297754

2,915 views
1 citation

Mini Review

Published on 13 Dec 2023

Genetic contribution of breast cancer genes in women of black African origin

in Human and Medical Genomics

Rokhaya Ndiaye
Jean Pascal Demba Diop
Ahmadou Dem
Alioune Dieye

Frontiers in Genetics

doi 10.3389/fgene.2023.1302645

3,677 views
1 citation

Case Report

Published on 13 Dec 2023

The genetic puzzle of a SOD1-patient with ocular ptosis and a motor neuron disease: a case report

in Human and Medical Genomics

Veria Vacchiano
Flavia Palombo
Danara Ormanbekova
Claudio Fiorini
Alessia Fiorentino
Leonardo Caporali
Andrea Mastrangelo
Maria Lucia Valentino
Sabina Capellari
Rocco Liguori

Frontiers in Genetics

doi 10.3389/fgene.2023.1322067

2,045 views

Case Report

Published on 04 Dec 2023

Case report: Genetic analysis of a novel intronic inversion variant in the SPTB gene associated with hereditary spherocytosis

in Human and Medical Genomics

Bixin Xi
Siying Liu
Yongbing Zhu
Dedong Zhang
Yu Zhang
Aiguo Liu

Frontiers in Genetics

doi 10.3389/fgene.2023.1309040

1,827 views
2 citations

Original Research

Published on 16 Nov 2023

Lipid-lowering drugs affect lung cancer risk via sphingolipid metabolism: a drug-target Mendelian randomization study

in Human and Medical Genomics

Honglin Li
Lei Zhang
Feiran Yang
Xiaoteng Feng
Rong Fu
Ruohan Zhao
Xiurong Li
Huijie Li

Frontiers in Genetics

doi 10.3389/fgene.2023.1269291

5,622 views
7 citations

Case Report

Published on 09 Nov 2023

Case report: A frameshift mutation in CLCN2-related leukoencephalopathy and retinopathy

in Human and Medical Genomics

Yizhe Cheng
Xinyu Liu
Limei Sun
Xiaoyan Ding

Frontiers in Genetics

doi 10.3389/fgene.2023.1278961

1,961 views
2 citations

Case Report

Published on 06 Nov 2023

Diffuse large B-cell lymphoma with continuously elevated immunoglobulin M following treatment: a case report with pathologic, immunophenotypic, and molecular analyses

in Human and Medical Genomics

Fei Xiao
Yong-Mei Cai
Jian-Chen Fang
Yan-Ying Shen
Bao-Hua Yu
Yi-Wei Zhang
Di Zhu
Zi-Hua Li
Guo-Qing Li
Jian Hou

Frontiers in Genetics

doi 10.3389/fgene.2023.1228372

2,821 views

Original Research

Published on 06 Nov 2023

A machine learning-based radiomics model for prediction of tumor mutation burden in gastric cancer

in Human and Medical Genomics

Tingting Ma
Yuwei Zhang
Mengran Zhao
Lingwei Wang
Hua Wang
Zhaoxiang Ye

Frontiers in Genetics

doi 10.3389/fgene.2023.1283090

2,144 views
5 citations

Original Research

Published on 03 Nov 2023

Comparative analyses of salivary exosomal miRNAs for patients with or without lung cancer

in Human and Medical Genomics

Mengfeng Liu
Xiran Yu
Jianlong Bu
Qifan Xiao
Sitong Ma
Naozhong Chen
Changfa Qu

Frontiers in Genetics

doi 10.3389/fgene.2023.1249678

2,338 views
8 citations

Original Research

Published on 01 Nov 2023

Construction of predictive model of interstitial fibrosis and tubular atrophy after kidney transplantation with machine learning algorithms

in Human and Medical Genomics

Yu Yin
Congcong Chen
Dong Zhang
Qianguang Han
Zijie Wang
Zhengkai Huang
Hao Chen
Li Sun
Shuang Fei
Jun Tao

Frontiers in Genetics

doi 10.3389/fgene.2023.1276963

2,919 views
1 citation

Original Research

Published on 31 Oct 2023

ODAD1 variants resulting from splice-site mutations retain partial function and cause primary ciliary dyskinesia with outer dynein arm defects

in Human and Medical Genomics

Nannan Zhou
Weilin Liang
Yanzhu Zhang
Guoli Quan
Ting Li
Siqing Huang
Yating Huo
Haiyan Cui
Yuanxiong Cheng

Frontiers in Genetics

doi 10.3389/fgene.2023.1270278

2,183 views

Opinion

Published on 26 Oct 2023

Absence of Association between a Long COVID and Severe COVID-19 Risk Variant of FOXP4 and Lung Cancer

in Human and Medical Genomics

Yu-Si Luo
Ke Zhang
Zhong-Shan Cheng

Frontiers in Genetics

doi 10.3389/fgene.2023.1258829

3,664 views
5 citations

Case Report

Published on 20 Oct 2023

CEP55-associated lethal fetal syndrome: a case report of a Chinese family

in Human and Medical Genomics

Yeping Wang
Fang Sheng
Lingjing Ying
Qiaoli Lou
Zhaonan Yu
Kaixuan Wang
Haoyi Wang

Frontiers in Genetics

doi 10.3389/fgene.2023.1267241

3,000 views
2 citations

Brief Research Report

Published on 19 Oct 2023

Identification and functional characterization of de novo variant in the SYNGAP1 gene causing intellectual disability

in Human and Medical Genomics

Boxuan Li
Yu Wang
Dong Hou
Zhen Song
Lihua Zhang
Na Li
Ruifang Yang
Ping Sun

Frontiers in Genetics

doi 10.3389/fgene.2023.1270175

2,829 views

Case Report

Published on 17 Oct 2023

Case report: Paternal uniparental disomy on chromosome 7 and homozygous SUGCT mutation in a fetus with overweight after birth

in Human and Medical Genomics

Xiufen Bu
Xu Li
Can Peng
Hongyu Li
Shihao Zhou
Zesen Zhu
Jun He
Siyuan Linpeng

Frontiers in Genetics

doi 10.3389/fgene.2023.1272028

2,336 views
3 citations