Pediatric Genomics | List of Frontiers open access articles

Brief Research Report

Published on 23 Jan 2026

Referral route: a determinant of inequity for children with undiagnosed genetic diseases?

in Human and Medical Genomics

Zeyu Tang
Emily K. Mis
Saquib A. Lakhani

Frontiers in Genetics

doi 10.3389/fgene.2026.1692489

680 views

Mini Review

Published on 30 Jul 2019

Xenopus: Driving the Discovery of Novel Genes in Patient Disease and Their Underlying Pathological Mechanisms Relevant for Organogenesis

in Developmental Physiology

Woong Y. Hwang
Jonathan Marquez
Mustafa K. Khokha

Frontiers in Physiology

doi 10.3389/fphys.2019.00953

5,233 views
23 citations

Original Research

Published on 22 Jan 2020

Familial Dilated Cardiomyopathy Associated With a Novel Combination of Compound Heterozygous TNNC1 Variants

in Striated Muscle Physiology

Maicon Landim-Vieira
Jamie R. Johnston
Weizhen Ji
Emily K. Mis
Joshua Tijerino
Michele Spencer-Manzon
Lauren Jeffries
E. Kevin Hall
David Panisello-Manterola
Mustafa K. Khokha

Frontiers in Physiology

doi 10.3389/fphys.2019.01612

9,273 views
28 citations

Case Report

Published on 18 Nov 2024

Case report: Novel variants cause developmental and epileptic encephalopathy in three unrelated families from Mali

in Genetics of Common and Rare Diseases

Salia Bamba
Lala Sidibé
Seybou H. Diallo
Lassana Cissé
Kékouta Dembélé
Abdoulaye Yalcouyé
Weizhen Ji
Mohamed Emile Dembélé
Salimata Diarra
Alassane dit Baneye Maiga

Frontiers in Genetics

doi 10.3389/fgene.2024.1412442

3,815 views
1 citation

Editorial

Published on 29 May 2020

Editorial: Xenopus Models of Organogenesis and Disease

in Developmental Physiology

John N. Griffin
Karen J. Liu
Emily Sempou

Frontiers in Physiology

doi 10.3389/fphys.2020.00534

3,720 views
6 citations

Brief Research Report

Published on 25 Sep 2024

Genetic profile of progressive myoclonic epilepsy in Mali reveals novel findings

in Neurogenetics

Lassana Cissé
Salia Bamba
Seybou H. Diallo
Weizhen Ji
Mohamed Emile Dembélé
Abdoulaye Yalcouyé
Toumany Coulibaly
Ibrahima Traoré
Lauren Jeffries
Salimata Diarra

Frontiers in Neurology

doi 10.3389/fneur.2024.1455467

2,891 views
1 citation

Case Report

Published on 24 Jul 2018

Cytotoxic T-Lymphocyte-Associated Protein 4 Haploinsufficiency-Associated Inflammation Can Occur Independently of T-Cell Hyperproliferation

in Autoimmune and Autoinflammatory Disorders

Carole Le Coz
Brian E. Nolan
Melissa Trofa
Alicia M. Kamsheh
Mustafa K. Khokha
Saquib A. Lakhani
Antonio Novelli
Elaine H. Zackai
Kathleen E. Sullivan
Silvana Briuglia

Frontiers in Immunology

doi 10.3389/fimmu.2018.01715

5,716 views
16 citations

Articles

Referral route: a determinant of inequity for children with undiagnosed genetic diseases?

Xenopus: Driving the Discovery of Novel Genes in Patient Disease and Their Underlying Pathological Mechanisms Relevant for Organogenesis

Familial Dilated Cardiomyopathy Associated With a Novel Combination of Compound Heterozygous TNNC1 Variants

Case report: Novel variants cause developmental and epileptic encephalopathy in three unrelated families from Mali

Editorial: Xenopus Models of Organogenesis and Disease

Genetic profile of progressive myoclonic epilepsy in Mali reveals novel findings

Cytotoxic T-Lymphocyte-Associated Protein 4 Haploinsufficiency-Associated Inflammation Can Occur Independently of T-Cell Hyperproliferation