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
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).
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, assistant_editor@jtggjournal.com
Published Articles
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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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
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EHMT1 pathogenic variants and 9q34.3 microdeletions share altered DNA methylation patterns in patients with Kleefstra syndrome
Open Access Original Article 17 Jun 2020
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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
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Role of transfer RNA modification and aminoacylation in the etiology of congenital intellectual disability
Open Access Review 15 May 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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