Gene Panel Analysis | List of Frontiers open access articles

Original Research

Published on 26 Jan 2023

Gene panel analysis of 119 index patients with suspected periodic paralysis in Japan

in Neuromuscular Disorders and Peripheral Neuropathies

Jun-Hui Yuan
Yujiro Higuchi
Akihiro Hashiguchi
Masahiro Ando
Akiko Yoshimura
Tomonori Nakamura
Yu Hiramatsu
Yusuke Sakiyama
Hiroshi Takashima

Frontiers in Neurology

doi 10.3389/fneur.2023.1078195

4,398 views
2 citations

Original Research

Published on 07 May 2020

Gene Panel Analysis in a Large Cohort of Patients With Autosomal Dominant Polycystic Kidney Disease Allows the Identification of 80 Potentially Causative Novel Variants and the Characterization of a Complex Genetic Architecture in a Subset of Families

in Genetics of Common and Rare Diseases

Vilma Mantovani
Sofia Bin
Claudio Graziano
Irene Capelli
Raffaella Minardi
Valeria Aiello
Enrico Ambrosini
Carlotta Pia Cristalli
Alessandro Mattiaccio
Milena Pariali

Frontiers in Genetics

doi 10.3389/fgene.2020.00464

15,164 views
44 citations

Brief Research Report

Published on 27 Aug 2024

LZTR1 loss-of-function variants associated with café au lait macules with or without freckling

in Pediatric Neurology

Svea Horn
Teresa Neuhann
Corina Hennig
Angela Abad-Perez
Eva-Christina Prott
Lisa Cardellini
Cornelia Potratz
Jonas Leubner
Birgit Eichhorn
Martin Merkel

Frontiers in Neurology

doi 10.3389/fneur.2024.1391425

4,912 views
1 citation

Brief Research Report

Published on 10 Jun 2021

Genomic Investigation of Infantile and Childhood Epileptic Encephalopathies in Kazakhstan: An Urgent Priority

in Pediatric Neurology

Altynshash Jaxybayeva
Alissa Nauryzbayeva
Assem Khamzina
Meruert Takhanova
Assel Abilhadirova
Anastasia Rybalko
Kymbat Jamanbekova

Frontiers in Neurology

doi 10.3389/fneur.2021.639317

3,523 views
2 citations

Case Report

Published on 01 Mar 2022

A Case Report of Neuronal Intranuclear Inclusion Disease Presenting With Recurrent Migraine-Like Attacks and Cerebral Edema: A Mimicker of MELAS

in Headache and Neurogenic Pain

Fei Xie
Xingyue Hu
Peng Liu
Dan Zhang

Frontiers in Neurology

doi 10.3389/fneur.2022.837844

5,007 views
20 citations

Mini Review

Published on 13 Jan 2022

Primary Immunodeficiencies Associated With Early-Onset Inflammatory Bowel Disease in Southeast and East Asia

in Primary Immunodeficiencies

Yoji Sasahara
Takashi Uchida
Tasuku Suzuki
Daiki Abukawa

Frontiers in Immunology

doi 10.3389/fimmu.2021.786538

7,142 views
12 citations

Original Research

Published on 01 Apr 2021

Association of Body Mass Index With Somatic Mutations in Breast Cancer

in Women's Cancer

Bo Chen
Liping Guo
Kai Li
Weikai Xiao
Yingzi Li
Cheukfai Li
Hsiaopei Mok
Li Cao
Jiali Lin
Guangnan Wei

Frontiers in Oncology

doi 10.3389/fonc.2021.613933

4,543 views
2 citations

Original Research

Published on 06 Jun 2024

Genetic Landscape of SH3TC2 variants in Russian patients with Charcot–Marie–Tooth disease

in Human and Medical Genomics

Olga Shchagina
Aysylu Murtazina
Polina Chausova
Mariya Orlova
Elena Dadali
Sergei Kurbatov
Sergey Kutsev
Aleksander Polyakov

Frontiers in Genetics

doi 10.3389/fgene.2024.1381915

2,320 views
1 citation

Brief Research Report

Published on 25 Jun 2021

Challenging Disease Ontology by Instances of Atypical PKHD1 and PKD1 Genetics

in Human and Medical Genomics

Jonathan de Fallois
Ria Schönauer
Johannes Münch
Mato Nagel
Bernt Popp
Jan Halbritter

Frontiers in Genetics

doi 10.3389/fgene.2021.682565

5,495 views
7 citations

Original Research

Published on 24 Sep 2020

New Pathogenic Germline Variants in Very Early Onset and Familial Colorectal Cancer Patients

in Cancer Genetics

Malene Djursby
Majbritt B. Madsen
Jane H. Frederiksen
Lukas A. Berchtold
Christina Therkildsen
Gro L. Willemoe
Jane P. Hasselby
Friedrik Wikman
Henrik Okkels
Anne-Bine Skytte

Frontiers in Genetics

doi 10.3389/fgene.2020.566266

14,982 views
30 citations

Brief Research Report

Published on 14 Jul 2022

Novel Missense CNTNAP2 Variant Identified in Two Consanguineous Pakistani Families With Developmental Delay, Epilepsy, Intellectual Disability, and Aggressive Behavior

in Epilepsy

Noor Badshah
Kari A. Mattison
Sohail Ahmad
Pankaj Chopra
H. Richard Johnston
Shakoor Ahmad
Sher Hayat Khan
Muhammad Tahir Sarwar
David J. Cutler
Micheal Taylor

Frontiers in Neurology

doi 10.3389/fneur.2022.918022

4,253 views
13 citations

Original Research

Published on 25 Apr 2023

A genetic and developmental biological approach for a family with complex congenital heart diseases—evidence of digenic inheritance

in Cardiovascular Genetics and Systems Medicine

Yu Yoshida
Keiko Uchida
Kazuki Kodo
Reina Ishizaki-Asami
Jun Maeda
Yoshinori Katsumata
Shinsuke Yuasa
Keiichi Fukuda
Kenjiro Kosaki
Yusuke Watanabe

Frontiers in Cardiovascular Medicine

doi 10.3389/fcvm.2023.1135141

4,554 views
9 citations

Original Research

Published on 11 Dec 2025

RUNX1-FPDMM in families with mild thrombocytopenia and platelet function anomalies: a case series

in Hematology

Hannah Glonnegger
Doris Boeckelmann
Rebekka Wiedenhöfer
Wolf-Achim Hassenpflug
Tim Ripperger
Dirk Lebrecht
Ralf Knöfler
Oliver Tiebel
Udo Koehler
Claudia Wehr

Frontiers in Medicine

doi 10.3389/fmed.2025.1657054

1,563 views

Articles

Gene panel analysis of 119 index patients with suspected periodic paralysis in Japan

Gene Panel Analysis in a Large Cohort of Patients With Autosomal Dominant Polycystic Kidney Disease Allows the Identification of 80 Potentially Causative Novel Variants and the Characterization of a Complex Genetic Architecture in a Subset of Families

LZTR1 loss-of-function variants associated with café au lait macules with or without freckling

Genomic Investigation of Infantile and Childhood Epileptic Encephalopathies in Kazakhstan: An Urgent Priority

A Case Report of Neuronal Intranuclear Inclusion Disease Presenting With Recurrent Migraine-Like Attacks and Cerebral Edema: A Mimicker of MELAS

Primary Immunodeficiencies Associated With Early-Onset Inflammatory Bowel Disease in Southeast and East Asia

Association of Body Mass Index With Somatic Mutations in Breast Cancer

Genetic Landscape of SH3TC2 variants in Russian patients with Charcot–Marie–Tooth disease

Challenging Disease Ontology by Instances of Atypical PKHD1 and PKD1 Genetics

New Pathogenic Germline Variants in Very Early Onset and Familial Colorectal Cancer Patients

Novel Missense CNTNAP2 Variant Identified in Two Consanguineous Pakistani Families With Developmental Delay, Epilepsy, Intellectual Disability, and Aggressive Behavior

A genetic and developmental biological approach for a family with complex congenital heart diseases—evidence of digenic inheritance

RUNX1-FPDMM in families with mild thrombocytopenia and platelet function anomalies: a case series