Frontiers in Genetics | Human and Medical Genomics

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

1,141 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

378 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

840 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

595 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

917 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

1,833 views

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

1,408 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

900 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

1,188 views

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

984 views

Original Research

Published on 01 Oct 2024

A statistical model to identify hereditary and epigenetic fusion genes associated with dilated cardiomyopathy

in Human and Medical Genomics

Ling Fei
Jun Zhang
Degen Zhuo

Frontiers in Genetics

doi 10.3389/fgene.2024.1438887

724 views

Editorial

Published on 30 Sep 2024

Editorial: Emerging talents in human and medical genomics

in Human and Medical Genomics

Vanessa Meyer
Stephen J. Bush
Angela Botes
Mandeep Kaur

Frontiers in Genetics

doi 10.3389/fgene.2024.1497486

502 views

Editorial

Published on 27 Sep 2024

Editorial: Personalized therapies for monogenic diabetes

in Human and Medical Genomics

Maurizio Delvecchio
Ming Liu
Novella Rapini
Fabrizio Barbetti

Frontiers in Genetics

doi 10.3389/fgene.2024.1496367

774 views

Editorial

Published on 10 Sep 2024

Editorial: Liquid biopsy and new omics technologies in vascular malformations

in Human and Medical Genomics

Massimo Vaghi
Elisa Frullanti
Maria Palmieri

Frontiers in Genetics

doi 10.3389/fgene.2024.1486606

493 views

Original Research

Published on 05 Sep 2024

Parental genetic knowledge and attitudes toward childhood with genetic disorders

in Human and Medical Genomics

Maha Alotaibi

Frontiers in Genetics

doi 10.3389/fgene.2024.1434322

1,179 views

Review

Published on 30 Aug 2024

Nutrigenomic underpinnings of intestinal stem cells in inflammatory bowel disease and colorectal cancer development

in Human and Medical Genomics

Jennifer Ho
Nicholas Puoplo
Namrata Pokharel
Aanya Hirdaramani
Aylin C. Hanyaloglu
Chia-Wei Cheng

Frontiers in Genetics

doi 10.3389/fgene.2024.1349717

2,096 views

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Articles

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

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

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

Editorial: Biomarkers and mechanisms of gastrointestinal diseases

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

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

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

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

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

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

A statistical model to identify hereditary and epigenetic fusion genes associated with dilated cardiomyopathy

Editorial: Emerging talents in human and medical genomics

Editorial: Personalized therapies for monogenic diabetes

Editorial: Liquid biopsy and new omics technologies in vascular malformations

Parental genetic knowledge and attitudes toward childhood with genetic disorders

Nutrigenomic underpinnings of intestinal stem cells in inflammatory bowel disease and colorectal cancer development