Application of Next-Generation Sequencing in Clinical Settings

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BRIEF RESEARCH REPORT

Published on 05 Mar 2025

Experiences from dual genome next-generation sequencing panel testing for mitochondrial disorders: a comprehensive molecular diagnosis

Elizabeth Gorman
Hongzheng Dai
Yanming Feng
William James Craigen
David C. Y. Chen
Fan Xia
Linyan Meng
Pengfei Liu
Robert Rigobello
2 more
Yue Wang

doi 10.3389/fgene.2025.1488956

264 views

BRIEF RESEARCH REPORT

Published on 20 Feb 2025

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

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

doi 10.3389/fgene.2025.1495604

580 views

ORIGINAL RESEARCH

Published on 13 Jan 2025

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

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

doi 10.3389/fgene.2024.1484651

520 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

Davide Vecchio
Marina Macchiaiolo
Michaela V. Gonfiantini
Filippo M. Panfili
Francesco Petrizzelli
Niccolò Liorni
Fabiana Cortellessa
Lorenzo Sinibaldi
Ippolita Rana
21 more
Tommaso Mazza

doi 10.3389/fgene.2024.1477940

728 views

CASE REPORT

Published on 18 Jun 2024

Identifying genomic variant associated with long QT syndrome type 2 in an ecuadorian mestizo individual: a case report

Rafael Tamayo-Trujillo
Rita Ibarra-Castillo
José Luis Laso-Bayas
Patricia Guevara-Ramirez
Santiago Cadena-Ullauri
Elius Paz-Cruz
Viviana A. Ruiz-Pozo
Nieves Doménech
Adriana Alexandra Ibarra-Rodríguez
Ana Karina Zambrano

doi 10.3389/fgene.2024.1395012

1,443 views
2 citations

ORIGINAL RESEARCH

Published on 15 Feb 2024

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

Rezvan Zabihi
Mina Zamani
Majid Aminzadeh
Niloofar Chamanrou
Fatemeh Zahra Kiani
Tahere Seifi
Jawaher Zeighami
Tahere Yadegari
Alireza Sedaghat
3 more
Hamid Galehdari

doi 10.3389/fgene.2024.1343094

1,598 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

Lamisse Mansour-Hendili
Cyril Gitiaux
Madeleine Harion
Céline Latouche
Bénédicte Heron
Tanya Stojkovic
Mélanie Rama
Thomas Smol
Anne Sophie Jourdain
9 more
Isabelle Desguerre

doi 10.3389/fgene.2024.1352006

1,252 views
1 citation

CASE REPORT

Published on 23 Jan 2024

Case report: Targeted sequencing facilitates the diagnosis and management of rare multifocal pure ground-glass opacities with intrapulmonary metastasis

Yingshun Yang
Guotian Pei
Mingwei Li
Xiaoxue Ma
Shuai Wang
Xianjun Min
Shushi Meng
Jiayue Qin
Huina Wang
1 more
Yuqing Huang

doi 10.3389/fonc.2023.1276095

781 views

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Human and Medical Genomics

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Articles

Experiences from dual genome next-generation sequencing panel testing for mitochondrial disorders: a comprehensive molecular diagnosis

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

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

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

Identifying genomic variant associated with long QT syndrome type 2 in an ecuadorian mestizo individual: a case report

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

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

Case report: Targeted sequencing facilitates the diagnosis and management of rare multifocal pure ground-glass opacities with intrapulmonary metastasis

Frontiers in Genetics

Human and Medical Genomics