Frontiers in Genetics | Human and Medical Genomics

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

932 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

1,256 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

997 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

627 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

1,360 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

438 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

939 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

697 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

1,055 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

1,974 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

1,538 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

998 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

1,288 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

1,070 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

776 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

553 views

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Articles

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

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

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

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

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