Frontiers in Genetics | Human and Medical Genomics

Case Report

Published on 21 Mar 2023

Case report: A novel heterozygous frameshift mutation of ACAN in a Chinese family with short stature and advanced bone age

in Human and Medical Genomics

Hao Huang
Jieyuan Jin
Rong Xiang
Xia Wang

Frontiers in Genetics

doi 10.3389/fgene.2023.1101695

2,763 views
3 citations

Original Research

Published on 20 Mar 2023

Clinical and genetic characterization of pediatric patients with Wilson’s disease from Yunnan province where ethnic minorities gather

in Human and Medical Genomics

Yanjun Wang
Jiahui Fang
Bin Li
Chongyang Li
Shan Liu
Juan He
Lvyan Tao
Cuifen Li
Ya Yang
Li Li

Frontiers in Genetics

doi 10.3389/fgene.2023.1142968

2,829 views
4 citations

Original Research

Published on 17 Mar 2023

CLPP inhibition triggers apoptosis in human ovarian granulosa cells via COX5A abnormality–Mediated mitochondrial dysfunction

in Human and Medical Genomics

Xiong Yuan
Wenjie Ma
Shuping Chen
Huiyuan Wang
Chenyi Zhong
Li Gao
Yugui Cui
Danhua Pu
Rongrong Tan
Jie Wu

Frontiers in Genetics

doi 10.3389/fgene.2023.1141167

4,286 views
7 citations

Original Research

Published on 17 Mar 2023

Impacts of vitrification on the transcriptome of human ovarian tissue in patients with gynecological cancer

in Human and Medical Genomics

Ruihuan Gu
Naidong Ge
Bin Huang
Jing Fu
Ying Zhang
Ningyi Wang
Yan Xu
Lu Li
Xiandong Peng
Yaoyu Zou

Frontiers in Genetics

doi 10.3389/fgene.2023.1114650

3,514 views
5 citations

Case Report

Published on 15 Mar 2023

Severe nephrotic syndrome and early end-stage diabetic kidney disease in ABCC8-MODY12: A case report

in Human and Medical Genomics

Sophie H. Schmidt
Ursula Barnas
Christof Aigner
Peter Wolf
Nicolas Kozakowski
Renate Kain
Thomas Scherer
Alice Schmidt
Gere Sunder-Plassmann

Frontiers in Genetics

doi 10.3389/fgene.2023.1132772

2,330 views

Review

Published on 10 Mar 2023

The multifaceted biology of lncR-Meg3 in cardio-cerebrovascular diseases

in Human and Medical Genomics

Jing Li
Wenxiu Liu
Fu Peng
Xiaoyu Cao
Xiaofang Xie
Cheng Peng

Frontiers in Genetics

doi 10.3389/fgene.2023.1132884

5,103 views
4 citations

Original Research

Published on 10 Mar 2023

Positive cfDNA screening results for 22q11.2 deletion syndrome—Clinical and laboratory considerations

in Human and Medical Genomics

Erica Soster
Brittany Dyr
Jill Rafalko
Eyad Almasri
Phillip Cacheris

Frontiers in Genetics

doi 10.3389/fgene.2023.1146669

6,394 views
8 citations

Editorial

Published on 09 Mar 2023

The 10th Santorini conference: Systems medicine, personalised health and therapy. “The odyssey from hope to practice: Patient first. Keep Ithaca always in your mind”, Santorini, Greece, 23–26 May 2022

in Human and Medical Genomics

Sophie Visvikis-Siest
Maria G. Stathopoulou
Raute Sunder-Plassmann
Behrooz Z. Alizadeh
Robert Barouki
Ekaterina Chatzaki
Georges Dagher
George Dedoussis
Panagiotis Deloukas
Alexander Haliassos

Frontiers in Genetics

doi 10.3389/fgene.2023.1171131

3,354 views

Case Report

Published on 08 Mar 2023

Novel mutation in exon11 of PRKCG (SCA14): A case report

in Human and Medical Genomics

Rong Sun
Xiang Tang
Xueqin Cao
Xinyu Shao
Hong Sun

Frontiers in Genetics

doi 10.3389/fgene.2023.1129988

2,175 views
3 citations

Original Research

Published on 02 Mar 2023

Single nucleotide variants in microRNA biosynthesis genes in Mexican individuals

in Human and Medical Genomics

Jesús Juárez-Luis
Moisés Canseco-Ocaña
Miguel Angel Cid-Soto
Xochitl H. Castro-Martínez
Angélica Martínez-Hernández
Lorena Orozco
Araceli Hernández-Zavala
Emilio J. Córdova

Frontiers in Genetics

doi 10.3389/fgene.2023.1022912

2,369 views

Original Research

Published on 27 Feb 2023

Integrative analysis of the role of BOLA2B in human pan-cancer

in Human and Medical Genomics

Mingxing Liang
Yinjiao Fei
Yalin Wang
Wenquan Chen
Zhen Liu
Di Xu
Hongyu Shen
Honglei Zhou
Jinhai Tang

Frontiers in Genetics

doi 10.3389/fgene.2023.1077126

4,797 views
2 citations

Original Research

Published on 27 Feb 2023

Exome sequencing in fetuses with short long bones detected by ultrasonography: A retrospective cohort study

in Human and Medical Genomics

Yanlin Huang
Chang Liu
Hongke Ding
Yunan Wang
Lihua Yu
Fangfang Guo
Fake Li
Xiaomei Shi
Yan Zhang
Aihua Yin

Frontiers in Genetics

doi 10.3389/fgene.2023.1032346

11,444 views
13 citations

Original Research

Published on 24 Feb 2023

Impact of genetically predicted characterization of mitochondrial DNA quantity and quality on osteoarthritis

in Human and Medical Genomics

Houpu Liu
Bingyue Cai
Ruicheng Gong
Ye Yang
Jing Wang
Dan Zhou
Min Yu
Yingjun Li

Frontiers in Genetics

doi 10.3389/fgene.2023.1130411

3,618 views
3 citations

Original Research

Published on 17 Feb 2023

Pathogenic gene variants in CCDC39, CCDC40, RSPH1, RSPH9, HYDIN, and SPEF2 cause defects of sperm flagella composition and male infertility

in Human and Medical Genomics

I. Aprea
A. Wilken
C. Krallmann
T. Nöthe-Menchen
H. Olbrich
N. T. Loges
G. W. Dougherty
D. Bracht
C. Brenker
S. Kliesch

Frontiers in Genetics

doi 10.3389/fgene.2023.1117821

5,628 views
15 citations

Original Research

Published on 10 Feb 2023

A cross-tissue transcriptome association study identifies key genes in essential hypertension

in Human and Medical Genomics

Sihui Huang
Jie Wang
Nannan Liu
Ping Li
Sha Wu
Luming Qi
Lina Xia

Frontiers in Genetics

doi 10.3389/fgene.2023.1114174

4,304 views
8 citations

Brief Research Report

Published on 07 Feb 2023

Microbial contamination and composition of oral samples subjected to clinical whole genome sequencing

in Human and Medical Genomics

Abhishek Kumar
Volha Skrahina
Joshua Atta
Veronika Boettcher
Nicola Hanig
Arndt Rolfs
Gabriela Oprea
Najim Ameziane

Frontiers in Genetics

doi 10.3389/fgene.2023.1081424

2,991 views
3 citations