Special Issue

Topic: Genetics of Neurodevelopmental Disorders

A Special Issue of Journal of Translational Genetics and Genomics

ISSN 2578-5281 (Online)

Submission deadline: 31 Mar 2020

Guest Editor(s)

Prof. Tjitske Kleefstra
Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.

Special Issue Introduction

The topics below on this Special Issue Genetics of Neurodevelopmental Disorders organized by Dr. Tjitske Kleefstra are preferable:
Novel technologies identifying genetic diagnoses;
Novel approaches for further phenotyping established diagnoses (through "OMICS" technology); methylation profiles, transcriptomics, use of iPSC /brain organoids;
Novel approaches clinical phenotyping: digital registries, facial recognition, systematic neurocognitive measures;
Intervention strategies (including non pharmaceutic).

Submission Deadline

31 Mar 2020

Submission Information

For Author Instructions, please refer to https://www.oaepublish.com/jtgg/author_instructions
For Online Submission, please login at https://oaemesas.com/login?JournalId=jtgg&SpecialIssueId=336
Submission Deadline: 31 Mar 2020
Contacts: Jingxiu Li, Assistant Editor, assistant_editor@jtggjournal.com

Published Articles

Kabuki syndrome and rare tumors in a young girl carrying a frameshift KMT2D mutation

Open Access Case Report DOI: 10.20517/jtgg.2022.18 19 Jul 2023
Views: Downloads:
Download PDF

Translational aspects in neurodevelopmental disorders

Open Access Editorial DOI: 10.20517/jtgg.2020.53 25 Nov 2020
Views: Downloads:
Download PDF

Novel imaging technologies for genetic diagnoses in the inborn errors of metabolism

Open Access Review DOI: 10.20517/jtgg.2020.09 12 Nov 2020
Views: Downloads:
Download PDF

Chromodomain helicase DNA-binding proteins and neurodevelopmental disorders

Open Access Review DOI: 10.20517/jtgg.2020.30 17 Aug 2020
Views: Downloads:
Download PDF

Animal models of autism: a perspective from autophagy mechanisms

Open Access Review DOI: 10.20517/jtgg.2020.25 18 Jul 2020
Views: Downloads:
Download PDF

Human induced pluripotent cells in personalized treatment of monogenic epilepsies

Open Access Review DOI: 10.20517/jtgg.2020.29 9 Jul 2020
Views: Downloads:
Download PDF

The influence of CYP enzymes and ABCB1 on treatment outcomes in schizophrenia: association of CYP1A2 activity with adverse effects

Open Access Original Article DOI: 10.20517/jtgg.2020.21 23 Jun 2020
Views: Downloads:
Download PDF

EHMT1 pathogenic variants and 9q34.3 microdeletions share altered DNA methylation patterns in patients with Kleefstra syndrome

Open Access Original Article DOI: 10.20517/jtgg.2020.23 17 Jun 2020
Views: Downloads:
Download PDF

Assigning single clinical features to their disease-locus in large deletions: the example of chromosome 1q23-25 deletion syndrome

Open Access Original Article DOI: 10.20517/jtgg.2020.16 17 Jun 2020
Views: Downloads:
Download PDF

Role of transfer RNA modification and aminoacylation in the etiology of congenital intellectual disability

Open Access Review DOI: 10.20517/jtgg.2020.13 15 May 2020
Views: Downloads:
Download PDF

Spectrum of MECP2 mutations in Indian females with Rett Syndrome - a large cohort study

Open Access Original Article DOI: 10.20517/jtgg.2020.06 15 May 2020
Views: Downloads:
Download PDF

Intellectual disability, the long way from genes to biological mechanisms

Open Access Opinion DOI: 10.20517/jtgg.2020.10 22 Apr 2020
Views: Downloads:
Download PDF

DeepGestalt analysis of the SETD5-associated intellectual disability syndrome

Open Access Original Article DOI: 10.20517/jtgg.2020.05 29 Mar 2020
Views: Downloads:
Download PDF
Journal of Translational Genetics and Genomics
ISSN 2578-5281 (Online)
Follow Us

Portico

All published articles are preserved here permanently:

https://www.portico.org/publishers/oae/

Portico

All published articles are preserved here permanently:

https://www.portico.org/publishers/oae/