Sequencing Panels | List of Frontiers open access articles

Original Research

Published on 21 Feb 2024

Bioinformatics characterization of variants of uncertain significance in pediatric sensorineural hearing loss

in Pediatric Otolaryngology

Sloane Clay
Adele Evans
Regina Zambrano
David Otohinoyi
Chindo Hicks
Fern Tsien

Frontiers in Pediatrics

doi 10.3389/fped.2024.1299341

3,711 views
3 citations

Original Research

Published on 12 Jan 2024

Validation of targeted next-generation sequencing panels in a cohort of Polish patients with epilepsy: assessing variable performance across clinical endophenotypes and uncovering novel genetic variants

in Neurogenetics

Magdalena Badura-Stronka
Katarzyna Wołyńska
Anna Winczewska-Wiktor
Justyna Marcinkowska
Dagmara Karolewska
Danuta Tomkowiak-Kędzia
Michał Piechota
Marta Przyborska
Natalia Kochalska
Barbara Steinborn

Frontiers in Neurology

doi 10.3389/fneur.2023.1316933

5,609 views
5 citations

Review

Published on 25 Mar 2021

PIK3CA Mutations as a Molecular Target for Hormone Receptor-Positive, HER2-Negative Metastatic Breast Cancer

in Women's Cancer

Nicola Fusco
Umberto Malapelle
Matteo Fassan
Caterina Marchiò
Simonetta Buglioni
Simonetta Zupo
Carmen Criscitiello
Paolo Vigneri
Angelo Paolo Dei Tos
Eugenio Maiorano

Frontiers in Oncology

doi 10.3389/fonc.2021.644737

42,587 views
102 citations

Original Research

Published on 08 Dec 2023

The TiHoCL panel for canine lymphoma: a feasibility study integrating functional genomics and network biology approaches for comparative oncology targeted NGS panel design

in Oncology in Veterinary Medicine

Silvia Fibi-Smetana
Camila Inglis
Daniela Schuster
Nina Eberle
José Luis Granados-Soler
Wen Liu
Saskia Krohn
Christian Junghanss
Ingo Nolte
Leila Taher

Frontiers in Veterinary Science

doi 10.3389/fvets.2023.1301536

3,853 views
1 citation

Original Research

Published on 17 Dec 2021

Establishing the Molecular Diagnoses in a Cohort of 291 Patients With Predominantly Antibody Deficiency by Targeted Next-Generation Sequencing: Experience From a Monocentric Study

in Primary Immunodeficiencies

Jessica Rojas-Restrepo
Andrés Caballero-Oteyza
Katrin Huebscher
Hanna Haberstroh
Manfred Fliegauf
Baerbel Keller
Robin Kobbe
Klaus Warnatz
Stephan Ehl
Michele Proietti

Frontiers in Immunology

doi 10.3389/fimmu.2021.786516

9,369 views
44 citations

Systematic Review

Published on 15 Nov 2021

Genetic Profile of Adenomatoid Odontogenic Tumor and Ameloblastoma. A Systematic Review

in Oral Cancers

Constanza Marín
Sven E. Niklander
René Martínez-Flores

Frontiers in Oral Health

doi 10.3389/froh.2021.767474

7,633 views
16 citations

Case Report

Published on 07 Mar 2024

Case Report: Profound newborn leukopenia related to a novel RAC2 variant

in Pediatric Immunology

Geoffrey Hall
Ágnes Donkó
Cristina Pratt
Julie J. Kim-Chang
Paul L. Martin
Amy P. Stallings
John W. Sleasman
Steven M. Holland
Amy P. Hsu
Thomas L. Leto

Frontiers in Pediatrics

doi 10.3389/fped.2024.1365187

3,810 views
1 citation

Original Research

Published on 19 Sep 2023

Diagnostic yield of genetic testing in a multinational heterogeneous cohort of 2088 DCM patients

in Cardiovascular Genetics and Systems Medicine

Krista Heliö
Marcos Cicerchia
Julie Hathaway
Johanna Tommiska
Johanna Huusko
Inka Saarinen
Lotta Koskinen
Mikko Muona
Ville Kytölä
Janica Djupsjöbacka

Frontiers in Cardiovascular Medicine

doi 10.3389/fcvm.2023.1254272

5,625 views
17 citations

Original Research

Published on 19 Nov 2019

Comprehensive Assessment of BARD1 Messenger Ribonucleic Acid Splicing With Implications for Variant Classification

in RNA

Logan C. Walker
Vanessa Lilian Lattimore
Anders Kvist
Petra Kleiblova
Petra Zemankova
Lucy de Jong
George A. R. Wiggins
Christopher Hakkaart
Simone L. Cree
Raquel Behar

Frontiers in Genetics

doi 10.3389/fgene.2019.01139

9,855 views
16 citations

Original Research

Published on 28 Jun 2022

Genetics of Inherited Retinal Diseases in Understudied Ethnic Groups in Italian Hospitals

in Human and Medical Genomics

Paolo Enrico Maltese
Leonardo Colombo
Salvatore Martella
Luca Rossetti
Said El Shamieh
Lorenzo Sinibaldi
Chiara Passarelli
Andrea Maria Coppè
Luca Buzzonetti
Benedetto Falsini

Frontiers in Genetics

doi 10.3389/fgene.2022.914345

6,786 views
14 citations

Articles

Bioinformatics characterization of variants of uncertain significance in pediatric sensorineural hearing loss

Validation of targeted next-generation sequencing panels in a cohort of Polish patients with epilepsy: assessing variable performance across clinical endophenotypes and uncovering novel genetic variants

PIK3CA Mutations as a Molecular Target for Hormone Receptor-Positive, HER2-Negative Metastatic Breast Cancer

The TiHoCL panel for canine lymphoma: a feasibility study integrating functional genomics and network biology approaches for comparative oncology targeted NGS panel design

Establishing the Molecular Diagnoses in a Cohort of 291 Patients With Predominantly Antibody Deficiency by Targeted Next-Generation Sequencing: Experience From a Monocentric Study

Genetic Profile of Adenomatoid Odontogenic Tumor and Ameloblastoma. A Systematic Review

Case Report: Profound newborn leukopenia related to a novel RAC2 variant

Diagnostic yield of genetic testing in a multinational heterogeneous cohort of 2088 DCM patients

Comprehensive Assessment of BARD1 Messenger Ribonucleic Acid Splicing With Implications for Variant Classification

Genetics of Inherited Retinal Diseases in Understudied Ethnic Groups in Italian Hospitals