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 19 Jul 2023
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Translational aspects in neurodevelopmental disorders
Open Access Editorial 25 Nov 2020
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Novel imaging technologies for genetic diagnoses in the inborn errors of metabolism
Open Access Review 12 Nov 2020
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Chromodomain helicase DNA-binding proteins and neurodevelopmental disorders
Open Access Review 17 Aug 2020
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Animal models of autism: a perspective from autophagy mechanisms
Open Access Review 18 Jul 2020
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Human induced pluripotent cells in personalized treatment of monogenic epilepsies
Open Access Review 9 Jul 2020
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Spectrum of MECP2 mutations in Indian females with Rett Syndrome - a large cohort study
Open Access Original Article 15 May 2020
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Intellectual disability, the long way from genes to biological mechanisms
Open Access Opinion 22 Apr 2020
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DeepGestalt analysis of the SETD5-associated intellectual disability syndrome
Open Access Original Article 29 Mar 2020
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Journal of Translational Genetics and Genomics
ISSN 2578-5281 (Online)
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