Frontiers in Genetics | Human and Medical Genomics

Case Report

Published on 11 Mar 2024

Case report: Novel SIN3A loss-of-function variant as causative for hypogonadotropic hypogonadism in Witteveen–Kolk syndrome

in Human and Medical Genomics

Lourdes Correa Brito
Ana Keselman
Florencia Villegas
Paula Scaglia
María Esnaola Azcoiti
Sebastián Castro
Nora Sanguineti
Agustín Izquierdo
Marianela Maier
Ignacio Bergadá

Frontiers in Genetics

doi 10.3389/fgene.2024.1354715

2,844 views
1 citation

Review

Published on 06 Mar 2024

Long read sequencing on its way to the routine diagnostics of genetic diseases

in Human and Medical Genomics

Giulia Olivucci
Emanuela Iovino
Giovanni Innella
Daniela Turchetti
Tommaso Pippucci
Pamela Magini

Frontiers in Genetics

doi 10.3389/fgene.2024.1374860

8,842 views
19 citations

Original Research

Published on 21 Feb 2024

Deciphering complexity: TULP1 variants linked to an atypical retinal dystrophy phenotype

in Human and Medical Genomics

Anna Esteve-Garcia
Estefania Cobos
Cristina Sau
Ariadna Padró-Miquel
Jaume Català-Mora
Pilar Barberán-Martínez
José M. Millán
Gema García-García
Cinthia Aguilera

Frontiers in Genetics

doi 10.3389/fgene.2024.1352063

2,191 views

Original Research

Published on 19 Feb 2024

The role of microRNAs in defining LSECs cellular identity and in regulating F8 gene expression

in Human and Medical Genomics

Muhammad Ahmer Jamil
Rawya Al-Rifai
Nicole Nuesgen
Janine Altmüller
Johannes Oldenburg
Osman El-Maarri

Frontiers in Genetics

doi 10.3389/fgene.2024.1302685

2,418 views

Case Report

Published on 15 Feb 2024

Diagnostic utility of DNA methylation episignature analysis for early diagnosis of KMT2B-related disorders: case report

in Human and Medical Genomics

Nadia Bouhamdani
Haley McConkey
Amélie Leblanc
Bekim Sadikovic
Mouna Ben Amor

Frontiers in Genetics

doi 10.3389/fgene.2024.1346044

3,095 views

Original Research

Published on 15 Feb 2024

Identification of new variants in patients with mucopolysaccharidosis in consanguineous Iranian families

in Human and Medical Genomics

Rezvan Zabihi
Mina Zamani
Majid Aminzadeh
Niloofar Chamanrou
Fatemeh Zahra Kiani
Tahere Seifi
Jawaher Zeighami
Tahere Yadegari
Alireza Sedaghat
Alihossein Saberi

Frontiers in Genetics

doi 10.3389/fgene.2024.1343094

2,164 views
2 citations

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

2,312 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

2,899 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

3,082 views
1 citation

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

1,880 views
1 citation

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

3,547 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

2,887 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

2,521 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

2,591 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

2,199 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

4,883 views
4 citations