Frontiers in Genetics | Human and Medical Genomics

Original Research

Published on 09 Jan 2025

A family with normal sperm motility carrying a sY86 deletion in AZFa region and partial deletion in AZFc region

in Human and Medical Genomics

Yuhong Zhao
Weiwei Zhi
Dongsheng Xiong
Ningjing Li
Xinrong Du
Jiuzhi Zeng
Guohui Zhang
Weixin Liu

Frontiers in Genetics

doi 10.3389/fgene.2024.1519774

1,283 views

Original Research

Published on 24 Dec 2024

Urinary TYROBP and HCK as genetic biomarkers for non-invasive diagnosis and therapeutic targeting in IgA nephropathy

in Human and Medical Genomics

Boji Xie
Shuting Pang
Yuli Xie
Qiuyan Tan
Shanshan Li
Mujia Jili
Yian Huang
Binran Zhao
Hao Yuan
Junhao Mi

Frontiers in Genetics

doi 10.3389/fgene.2024.1516513

2,190 views

Original Research

Published on 11 Dec 2024

Widening the infantile hypotonia with psychomotor retardation and characteristic Facies-1 Syndrome’s clinical and molecular spectrum through NALCN in-silico structural analysis

in Human and Medical Genomics

Davide Vecchio
Marina Macchiaiolo
Michaela V. Gonfiantini
Filippo M. Panfili
Francesco Petrizzelli
Niccolò Liorni
Fabiana Cortellessa
Lorenzo Sinibaldi
Ippolita Rana
Emanuele Agolini

Frontiers in Genetics

doi 10.3389/fgene.2024.1477940

1,698 views
1 citation

Original Research

Published on 10 Dec 2024

Comprehensive evaluation of AlphaMissense predictions by evidence quantification for variants of uncertain significance

in Human and Medical Genomics

Amina Kurtovic-Kozaric
Lejla Delalic
Belma Mutapcic
Lejla Comor
Eric Siciliano
Mark J. Kiel

Frontiers in Genetics

doi 10.3389/fgene.2024.1487608

2,448 views
1 citation

Editorial

Published on 05 Dec 2024

Editorial: CRISPR: the game changer in gene and cell therapy

in Human and Medical Genomics

Wenxia He
Meizhu Bai

Frontiers in Genetics

doi 10.3389/fgene.2024.1517298

1,472 views

Case Report

Published on 04 Dec 2024

Case report: A novel nonsense mutation in the MARVELD2 gene causes nonsyndromic hearing loss in a China family

in Human and Medical Genomics

Chuican Huang
Zhenning Huang
Ping Wang
Xijing Wu
Qiaomiao Zhou
Jun Ding
Qing Luo
Weijia Wu
Xialin Fan
Lichun Fan

Frontiers in Genetics

doi 10.3389/fgene.2024.1507600

1,027 views

Systematic Review

Published on 29 Nov 2024

Consumer-oriented (patient and family) outcomes from nursing in genomics: a scoping review of the literature (2012–2022)

in Human and Medical Genomics

Jordan N. Keels
Joanne Thomas
Kathleen A. Calzone
Laurie Badzek
Sarah Dewell
Vinaya Murthy
Rosie O’Shea
Emma T. Tonkin
Andrew A. Dwyer

Frontiers in Genetics

doi 10.3389/fgene.2024.1481948

2,504 views
1 citation

Editorial

Published on 20 Nov 2024

Editorial: Diagnosis and identification of novel disorders and ultra-rare disorders in science and clinical routine

in Human and Medical Genomics

Hacer Durmus

Frontiers in Genetics

doi 10.3389/fgene.2024.1522931

639 views

Original Research

Published on 20 Nov 2024

Comparative study of the three-dimensional genomes of granulosa cells in germinal vesicle and metaphase II follicles

in Human and Medical Genomics

Rurong Mao
Zhongkun Cai
Tao Wang
Yan Li
Shilin Tian
Diyan Li
Penghao Li

Frontiers in Genetics

doi 10.3389/fgene.2024.1480153

1,410 views

Editorial

Published on 06 Nov 2024

Editorial: Biomarkers and mechanisms of gastrointestinal diseases

in Human and Medical Genomics

Zerrin Isik
Gizem Calibasi-Kocal
Omer Yilmaz

Frontiers in Genetics

doi 10.3389/fgene.2024.1516063

1,058 views

Case Report

Published on 01 Nov 2024

Case report: Rethinking NGS analysis in diagnosing Diamond-Blackfan anemia syndrome

in Human and Medical Genomics

Panayiota L. Papasavva
Konstantinos Kaouranis
Stefania Byrou
Constantina G. Constantinou
Iacovou Efrosini
Marina Kleanthous
Carsten W. Lederer
Thessalia Papasavva

Frontiers in Genetics

doi 10.3389/fgene.2024.1459291

1,670 views

Original Research

Published on 23 Oct 2024

Identification of novel 3D-genome altering and complex structural variants underlying retinitis pigmentosa type 17 through a multistep and high-throughput approach

in Human and Medical Genomics

Suzanne E. de Bruijn
Daan M. Panneman
Nicole Weisschuh
Elizabeth L. Cadena
Erica G. M. Boonen
Lara K. Holtes
Galuh D. N. Astuti
Frans P. M. Cremers
Nico Leijsten
Jordi Corominas

Frontiers in Genetics

doi 10.3389/fgene.2024.1469686

2,750 views
2 citations

Original Research

Published on 14 Oct 2024

Cas9-targeted-based long-read sequencing for genetic screening of RPE65 locus

in Human and Medical Genomics

Cristina Rodilla
Gonzalo Núñez-Moreno
Yolanda Benitez
Raquel Romero
Lidia Fernández-Caballero
Pablo Mínguez
Marta Corton
Carmen Ayuso

Frontiers in Genetics

doi 10.3389/fgene.2024.1439153

2,065 views

Editorial

Published on 04 Oct 2024

Editorial: The clinical utility of long read sequencing to improve diagnostic yield and uncover biological mechanisms in rare disease

in Human and Medical Genomics

Lidia Larizza
Christopher M. Watson
Madelyn A. Gillentine
Palma Finelli

Frontiers in Genetics

doi 10.3389/fgene.2024.1494860

1,422 views

Original Research

Published on 03 Oct 2024

Gut microbiota as a prognostic biomarker for unresectable hepatocellular carcinoma treated with anti-PD-1 therapy

in Human and Medical Genomics

Yujing Xin
Gang Peng
Wei Song
Xiang Zhou
Xiaoyu Huang
Xiaojing Cao

Frontiers in Genetics

doi 10.3389/fgene.2024.1366131

1,979 views
1 citation

Original Research

Published on 01 Oct 2024

MicroRNA binding site variants–new potential markers of primary osteoporosis in men and women

in Human and Medical Genomics

Bulat Yalaev
Roman Deev
Anton Tyurin
Ramil Salakhov
Kirill Smirnov
Anna Eremkina
Natalia Mokrysheva
Ildar Minniakhmetov
Rita Khusainova

Frontiers in Genetics

doi 10.3389/fgene.2024.1470310

1,564 views