Frontiers in Genetics | Human and Medical Genomics

Original Research

Published on 23 Mar 2023

Prenatal diagnosis by trio exome sequencing in fetuses with ultrasound anomalies: A powerful diagnostic tool

in Human and Medical Genomics

Frédéric Tran Mau-Them
Julian Delanne
Anne-Sophie Denommé-Pichon
Hana Safraou
Ange-Line Bruel
Antonio Vitobello
Aurore Garde
Sophie Nambot
Nicolas Bourgon
Caroline Racine

Frontiers in Genetics

doi 10.3389/fgene.2023.1099995

7,753 views
20 citations

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

4,008 views
5 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

4,261 views
7 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

6,441 views
11 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

4,992 views
7 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

3,255 views
1 citation

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

7,047 views
15 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

8,454 views
11 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

4,286 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

3,064 views
6 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

3,584 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

6,652 views
5 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

15,692 views
19 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

4,532 views
4 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

8,653 views
28 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

6,122 views
16 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

4,633 views
7 citations

Review

Published on 30 Jan 2023

Omics approaches to understanding the efficacy and safety of disease-modifying treatments in multiple sclerosis

in Human and Medical Genomics

Lorena Lorefice
Maristella Pitzalis
Federica Murgia
Giuseppe Fenu
Luigi Atzori
Eleonora Cocco

Frontiers in Genetics

doi 10.3389/fgene.2023.1076421

8,141 views
14 citations

Original Research

Published on 27 Jan 2023

Comparison of methods for donor-derived cell-free DNA quantification in plasma and urine from solid organ transplant recipients

in Human and Medical Genomics

Nicholas Kueng
Séverine Arcioni
Fanny Sandberg
Christian Kuhn
Vanessa Banz
Carlo R. Largiadèr
Daniel Sidler
Ursula Amstutz

Frontiers in Genetics

doi 10.3389/fgene.2023.1089830

8,222 views
29 citations

Original Research

Published on 25 Jan 2023

Molecular mechanisms of the Guizhi decoction on osteoarthritis based on an integrated network pharmacology and RNA sequencing approach with experimental validation

in Human and Medical Genomics

Yan Chen
Yan Xue
Xuezong Wang
Ding Jiang
Qinguang Xu
Lin Wang
Yuxin Zheng
Ying Shi
Yuelong Cao

Frontiers in Genetics

doi 10.3389/fgene.2023.1079631

5,306 views
6 citations

Methods

Published on 24 Jan 2023

Identification of functional gene modules by integrating multi-omics data and known molecular interactions

in Human and Medical Genomics

Xiaoqing Chen
Mingfei Han
Yingxing Li
Xiao Li
Jiaqi Zhang
Yunping Zhu

Frontiers in Genetics

doi 10.3389/fgene.2023.1082032

3,919 views
2 citations

Original Research

Published on 23 Jan 2023

Network-based quantitative trait linkage analysis of microbiome composition in inflammatory bowel disease families

in Human and Medical Genomics

Arunabh Sharma
Olaf Junge
Silke Szymczak
Malte Christoph Rühlemann
Janna Enderle
Stefan Schreiber
Matthias Laudes
Andre Franke
Wolfgang Lieb
Michael Krawczak

Frontiers in Genetics

doi 10.3389/fgene.2023.1048312

3,376 views
4 citations

Review

Published on 20 Jan 2023

Urinary extracellular vesicles miRNA—A new era of prostate cancer biomarkers

in Human and Medical Genomics

Garima Jain
Parimal Das
Prashant Ranjan
Neha
Ferran Valderrama
Clara Cieza-Borrella

Frontiers in Genetics

doi 10.3389/fgene.2023.1065757

8,534 views
34 citations

Original Research

Published on 18 Jan 2023

Promoting patient engagement in cancer genomics research programs: An environmental scan

in Human and Medical Genomics

Anne L. R. Schuster
Norah L. Crossnohere
Jonathan Paskett
Neena Thomas
Heather Hampel
Qin Ma
Jessica C. Tiner
Electra D. Paskett
John F. P. Bridges

Frontiers in Genetics

doi 10.3389/fgene.2023.1053613

4,215 views
14 citations

846 articles

articles

Prenatal diagnosis by trio exome sequencing in fetuses with ultrasound anomalies: A powerful diagnostic tool

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

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

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

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

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

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

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

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

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

Single nucleotide variants in microRNA biosynthesis genes in Mexican individuals

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

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

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

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

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

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

Omics approaches to understanding the efficacy and safety of disease-modifying treatments in multiple sclerosis

Comparison of methods for donor-derived cell-free DNA quantification in plasma and urine from solid organ transplant recipients

Molecular mechanisms of the Guizhi decoction on osteoarthritis based on an integrated network pharmacology and RNA sequencing approach with experimental validation

Identification of functional gene modules by integrating multi-omics data and known molecular interactions

Network-based quantitative trait linkage analysis of microbiome composition in inflammatory bowel disease families

Urinary extracellular vesicles miRNA—A new era of prostate cancer biomarkers

Promoting patient engagement in cancer genomics research programs: An environmental scan