Special Topic

Topic: Genetics of Neurodevelopmental Disorders

A Special Topic of Journal of Translational Genetics and Genomics

ISSN 2578-5281 (Online)

Submission deadline: 31 Mar 2020

Guest Editor

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

Special Topic 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://www.oaecenter.com/login?JournalId=jtgg&IssueId=jtgg200331336
Submission Deadline: 31 Mar 2020
Contacts: Jingxiu Li, Assistant Editor, [email protected]

Published Articles

Translational aspects in neurodevelopmental disorders
Open Access Editorial 25 Nov 2020
Views: Downloads:
Download PDF
Novel imaging technologies for genetic diagnoses in the inborn errors of metabolism
Open Access Review 12 Nov 2020
Views: Downloads:
Download PDF
Chromodomain helicase DNA-binding proteins and neurodevelopmental disorders
Open Access Review 17 Aug 2020
Views: Downloads:
Download PDF
Animal models of autism: a perspective from autophagy mechanisms
Open Access Review 18 Jul 2020
Views: Downloads:
Download PDF
Human induced pluripotent cells in personalized treatment of monogenic epilepsies
Open Access Review 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 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 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 17 Jun 2020
Views: Downloads:
Download PDF
Role of transfer RNA modification and aminoacylation in the etiology of congenital intellectual disability
Open Access Review 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 15 May 2020
Views: Downloads:
Download PDF
Intellectual disability, the long way from genes to biological mechanisms
Open Access Opinion 22 Apr 2020
Views: Downloads:
Download PDF
DeepGestalt analysis of the SETD5-associated intellectual disability syndrome
Open Access Original Article 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/