Frontiers in Genetics | Human and Medical Genomics

Systematic Review

Published on 14 Feb 2024

Circulating miRNAs as biomarkers for the diagnosis in patients with melanoma: systematic review and meta-analysis

in Human and Medical Genomics

Nicholas Jones
Taichiro Nonaka

Frontiers in Genetics

doi 10.3389/fgene.2024.1339357

2,619 views
6 citations

Original Research

Published on 08 Feb 2024

Functional impact of multi-omic interactions in lung cancer

in Human and Medical Genomics

Miguel Ángel Díaz-Campos
Jorge Vasquez-Arriaga
Soledad Ochoa
Enrique Hernández-Lemus

Frontiers in Genetics

doi 10.3389/fgene.2024.1282241

3,296 views

Original Research

Published on 08 Feb 2024

A MYH7 variant in a five-generation-family with hypertrophic cardiomyopathy

in Human and Medical Genomics

Magda Franke
Tomasz Marcin Książczyk
Marta Dux
Przemysław Chmielewski
Grażyna Truszkowska
Dorota Czapczak
Radosław Pietrzak
Zofia Teresa Bilinska
Urszula Demkow
Bożena Werner

Frontiers in Genetics

doi 10.3389/fgene.2024.1306333

3,795 views
3 citations

Brief Research Report

Published on 29 Jan 2024

Recurrent “outsider” intronic variation in the SLC5A6 gene causes severe mixed axonal and demyelinating neuropathy, cyclic vomiting and optic atrophy in 3 families from Maghreb

in Human and Medical Genomics

Lamisse Mansour-Hendili
Cyril Gitiaux
Madeleine Harion
Céline Latouche
Bénédicte Heron
Tanya Stojkovic
Mélanie Rama
Thomas Smol
Anne Sophie Jourdain
Karine Mention

Frontiers in Genetics

doi 10.3389/fgene.2024.1352006

2,133 views
5 citations

Original Research

Published on 22 Jan 2024

Prenatal diagnosis of fetuses with ultrasound anomalies by whole-exome sequencing in Luoyang city, China

in Human and Medical Genomics

Yanan Wang
Fan Yin
Yuqiong Chai
Jiapei Jin
Pai Zhang
Qianqian Tan
Zhigang Chen

Frontiers in Genetics

doi 10.3389/fgene.2023.1301439

4,042 views
5 citations

Original Research

Published on 19 Jan 2024

Uncovering the clinical relevance of unclassified variants in DNA repair genes: a focus on BRCA negative Tunisian cancer families

in Human and Medical Genomics

Maroua Boujemaa
Fatma Nouira
Nouha Jandoubi
Nesrine Mejri
Hanen Bouaziz
Cherine Charfeddine
Sonia Ben Nasr
Soumaya Labidi
Houda El Benna
Yosra Berrazega

Frontiers in Genetics

doi 10.3389/fgene.2024.1327894

3,206 views

Review

Published on 18 Jan 2024

The expansion of liquid biopsies to vascular care: an overview of existing principles, techniques and potential applications to vascular malformation diagnostics

in Human and Medical Genomics

Ann Mansur
Ivan Radovanovic

Frontiers in Genetics

doi 10.3389/fgene.2024.1348096

2,880 views
4 citations

Case Report

Published on 18 Jan 2024

Biallelic variants in HTRA2 cause 3-methylglutaconic aciduria mitochondrial disorder: case report and literature review

in Human and Medical Genomics

Umamaheswaran Gurusamy
Swetha Ramadesikan
Mohammad Marhabaie
Caitlyn M. Colwell
Jesse M. Hunter
Marco L. Leung
Elaine R. Mardis
Peter White
Murugu Manickam
Richard K. Wilson

Frontiers in Genetics

doi 10.3389/fgene.2023.1298574

2,811 views

Original Research

Published on 11 Jan 2024

Clinical and genetic risk factors associated with neonatal severe hyperbilirubinemia: a case–control study based on the China Neonatal Genomes Project

in Human and Medical Genomics

Xiao Wang
Tiantian Xiao
Jin Wang
Bingbing Wu
Huijun Wang
Yulan Lu
Yaqiong Wang
Bin Chen
Liyuan Hu
Yun Cao

Frontiers in Genetics

doi 10.3389/fgene.2023.1292921

2,523 views
1 citation

Original Research

Published on 08 Jan 2024

Piezo1 mutant zebrafish as a model of idiopathic scoliosis

in Human and Medical Genomics

Ramli
Toshihiro Aramaki
Masakatsu Watanabe
Shigeru Kondo

Frontiers in Genetics

doi 10.3389/fgene.2023.1321379

5,709 views
5 citations

Mini Review

Published on 08 Jan 2024

Navigating the genetic landscape of breast cancer in South Africa amidst a developing healthcare system

in Human and Medical Genomics

Jaco Oosthuizen
Nerina C. Van der Merwe
Maritha J. Kotze

Frontiers in Genetics

doi 10.3389/fgene.2023.1330946

2,637 views
3 citations

Original Research

Published on 08 Jan 2024

Lessons learned from rapid exome sequencing for 575 critically ill patients across the broad spectrum of rare disease

in Human and Medical Genomics

Abderrahim Marouane
Kornelia Neveling
A. Chantal Deden
Simone van den Heuvel
Dimitra Zafeiropoulou
Steven Castelein
Frank van de Veerdonk
David A. Koolen
Annet Simons
Richard Rodenburg

Frontiers in Genetics

doi 10.3389/fgene.2023.1304520

2,671 views
4 citations

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

1,804 views
1 citation

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

2,683 views
2 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

4,222 views
4 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

5,765 views
10 citations