Frontiers in Genetics | Human and Medical Genomics

Original Research

Published on 21 Feb 2025

Exploration of cfDNA landscape in NIPT and clinical utilities of cfDNA based gene expression inference in prenatal diagnostics

in Human and Medical Genomics

Ruo Jia
Jianjiang Zhu
Feng Zhang
Yangbo Sun
Bin Zhang
Yang Du
Hong Qi

Frontiers in Genetics

doi 10.3389/fgene.2025.1527884

814 views

Brief Research Report

Published on 20 Feb 2025

Calculating maternal polygenic risk scores from prenatal screening by cell-free DNA data

in Human and Medical Genomics

Victoria Corey
Mauro Chavez
Layla Qasim
Tevfik U. Dincer
Angela Henry
Salome Bagayan
Sasha Treadup
Mike Mehan
Eileen de Feo
Sung Kim

Frontiers in Genetics

doi 10.3389/fgene.2025.1495604

956 views

Original Research

Published on 17 Feb 2025

Exploration and verification of circulating diagnostic biomarkers in osteoarthritis based on machine learning

in Human and Medical Genomics

Xinyu Wang
Tianyi Liu
Yueyang Sheng
Cheng Qiu
Yanzhuo Zhang
Yanqun Liu
Chengai Wu

Frontiers in Genetics

doi 10.3389/fgene.2025.1513675

818 views

Original Research

Published on 31 Jan 2025

Molecular genetic analysis of Rubinstein–Taybi syndrome in Russian patients

in Human and Medical Genomics

Olga R. Ismagilova
Tagui A. Adyan
Tatiana S. Beskorovainaya
Alexander V. Polyakov

Frontiers in Genetics

doi 10.3389/fgene.2025.1516565

777 views

Case Report

Published on 20 Jan 2025

Tell me y: anticipation of sex discrepancies in cell-free DNA testing due to maternal genetic abnormalities: a case report

in Human and Medical Genomics

Nuria Balaguer
Emilia Mateu-Brull
Jose Antonio Martínez-Conejero
Ana Cervero
Roser Navarro
Jorge Jiménez-Almazán
Miguel Milán

Frontiers in Genetics

doi 10.3389/fgene.2024.1502287

914 views

Original Research

Published on 13 Jan 2025

Uncovering somatic mosaic variants of PIK3CA-related overgrowth disorders – three cases with different clinical presentations

in Human and Medical Genomics

M. Tooming
P. Mertsina
T. Kahre
R. Teek
I. Vainumäe
S. Lilles
M. H. Wojcik
P. Ilves
K. Õunap

Frontiers in Genetics

doi 10.3389/fgene.2024.1484651

807 views

Original Research

Published on 10 Jan 2025

Comprehensive analysis of ferroptosis-related genes reveals potential therapeutic targets in osteoporosis patients: a computational analysis and in vitro experiments

in Human and Medical Genomics

Sihui Chen
Yi Jiang
Guoqin Xie
Peng Wu
Jinyu Zhu

Frontiers in Genetics

doi 10.3389/fgene.2024.1522809

1,223 views

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

802 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

1,392 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

1,195 views

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

1,568 views

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

1,107 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

782 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

1,734 views

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

486 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

1,075 views