Frontiers in Genetics | Human and Medical Genomics

Case Report

Published on 08 Jan 2024

Case report: A novel mutation in the EYA1 gene in a child with branchiootic syndrome with secretory otitis media and bilateral vestibular hypofunction

in Human and Medical Genomics

Jun He
Ahmad Mahmoudi
Yu Gu
Jinfeng Fu
Qiulin Yuan
Wei Liu

Frontiers in Genetics

doi 10.3389/fgene.2023.1292085

2,799 views
4 citations

Case Report

Published on 05 Jan 2024

Variable clinical presentation of split hand/foot malformation syndrome in a family with microduplication of 10q24.32: a case report

in Human and Medical Genomics

Daria Akimova
Tatiana Markova
Maria Ampleeva
Mikhail Skoblov

Frontiers in Genetics

doi 10.3389/fgene.2023.1303807

4,260 views
2 citations

Original Research

Published on 04 Jan 2024

“A very big challenge”: a qualitative study to explore the early barriers and enablers to implementing a national genomic medicine service in England

in Human and Medical Genomics

Bettina Friedrich
Cecilia Vindrola-Padros
Anneke M. Lucassen
Chris Patch
Angus Clarke
Monica Lakhanpaul
Celine Lewis

Frontiers in Genetics

doi 10.3389/fgene.2023.1282034

7,994 views
19 citations

Original Research

Published on 04 Jan 2024

Placental cytochrome P450 methylomes in infants exposed to prenatal opioids: exploring the effects of neonatal opioid withdrawal syndrome on health horizons

in Human and Medical Genomics

Uppala Radhakrishna
Senthilkumar Sadhasivam
Rupa Radhakrishnan
Ariadna Forray
Srinivas B. Muvvala
Raghu P. Metpally
Saumya Patel
Rakesh M. Rawal
Sangeetha Vishweswaraiah
Ray O. Bahado-Singh

Frontiers in Genetics

doi 10.3389/fgene.2023.1292148

5,243 views
4 citations

Original Research

Published on 03 Jan 2024

CCL7 and olfactory transduction pathway activation play an important role in the formation of CaOx and CaP kidney stones

in Human and Medical Genomics

Qiankun Zhang
Hhuiling Wei
Gang Huang
Lie Jin

Frontiers in Genetics

doi 10.3389/fgene.2023.1267545

3,067 views
7 citations

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

4,287 views
2 citations

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

4,063 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

5,237 views
2 citations

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

2,985 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

2,619 views
3 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

6,737 views
8 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

2,701 views
4 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

4,136 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

3,507 views
10 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

3,384 views
11 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

4,394 views
8 citations

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

3,312 views
1 citation

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

4,590 views
9 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

3,743 views
3 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

3,749 views
2 citations

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

3,570 views
4 citations

Original Research

Published on 12 Oct 2023

Participation in genetic screening: testing different outreach methods across a diverse hospital system based patient population

in Human and Medical Genomics

Lindsay Dickey
Ben Gronowski
Kyle Jones
J. B. Rinaldi
Kate Emery
Jon Clemens
Ora Gordon
Keri Vartanian

Frontiers in Genetics

doi 10.3389/fgene.2023.1272931

3,882 views
4 citations

Original Research

Published on 03 Oct 2023

The genetics of urinary microbiome, an exploration of the trigger in calcium oxalate stone

in Human and Medical Genomics

Yuanyuan Yang
Lintao Miao
Yuchao Lu
Shaogang Wang

Frontiers in Genetics

doi 10.3389/fgene.2023.1260278

4,401 views
7 citations

Original Research

Published on 03 Oct 2023

Comprehensive molecular expression profiling of SARS-CoV-associated factors in the endometrium across the menstrual cycle and elevated susceptibility in women with recurrent pregnancy loss

in Human and Medical Genomics

Ruofan Qi
Rui Guan
Shengyun Cai
Mingjuan Xu
Wen-jui Yang
Chi Chiu Wang

Frontiers in Genetics

doi 10.3389/fgene.2023.1246725

4,078 views
4 citations

843 articles

articles

Case report: A novel mutation in the EYA1 gene in a child with branchiootic syndrome with secretory otitis media and bilateral vestibular hypofunction

Variable clinical presentation of split hand/foot malformation syndrome in a family with microduplication of 10q24.32: a case report

“A very big challenge”: a qualitative study to explore the early barriers and enablers to implementing a national genomic medicine service in England

Placental cytochrome P450 methylomes in infants exposed to prenatal opioids: exploring the effects of neonatal opioid withdrawal syndrome on health horizons

CCL7 and olfactory transduction pathway activation play an important role in the formation of CaOx and CaP kidney stones

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Participation in genetic screening: testing different outreach methods across a diverse hospital system based patient population

The genetics of urinary microbiome, an exploration of the trigger in calcium oxalate stone

Comprehensive molecular expression profiling of SARS-CoV-associated factors in the endometrium across the menstrual cycle and elevated susceptibility in women with recurrent pregnancy loss