Published Research Papers

Published Research PapersAdmin2018-08-21T23:54:43+00:00

Included in this section are links to relevant scientific and/or governmental bodies that store research papers directly related to ID, KS, epigenetic machinery-related disorders, ASD and various other neurodevelopmental disorders others, as applicable. We have also provided links to specific articles of interest to those researching ID or KS. A variety of scientists and researchers have touched these topics, so the articles are intended to provide a broad spectrum of views and research work.

Please note that by clicking on any of the links below, you are visiting another site outside of the K.I.D.S. IQ Project site and, as such, K.I.D.S. IQ Project is not responsible for any related privacy matters or otherwise.

If you are a researcher and interested in posting your research on K.I.D.S. IQ Project, please contact us.

Research Papers (click on a link below to be redirected):

General Resources

Kleefstra Syndrome – Comprehensive List of Kleefstra Syndrome Research Papers on NIH Website

Kleefstra Syndrome – Clinical Summary on NIH Website

2016

A de novo splice site mutation in EHMT1 resulting in Kleefstra syndrome with pharmacogenomics screening and behavior therapy for regressive behaviors

Where Environment Meets Cognition: A Focus on Two Developmental Intellectual Disability Disorders

Expanding the phenotypic profile of Kleefstra syndrome: A female with low-average intelligence and childhood apraxia of speech

A structured assessment of motor function and behavior in patients with Kleefstra syndrome

2015

Regulation of cell differentiation and function by the euchromatin histone methyltranserfases G9a and GLP

From a Single Gene Defect Towards a Cross Species Neurocognitive Phenotype: The EHMT1 Disruption Example (Kleefstra Syndrome)

2014

Molecular convergence of neurodevelopmental disorders

Intragenic duplication of EHMT1 gene results in Kleefstra syndrome

Histone deacetylase inhibition rescues structural and functional brain deficits in a mouse model of Kabuki syndrome

Mendelian Disorders of the Epigenetic Machinery: Tipping the Balance of Chromatin States

The genetics of cognitive epigenetics

2013

Reduced Euchromatin histone methyltransferase 1 causes developmental delay, hypotonia, and cranial abnormalities associated with increased bone gene expression in Kleefstra syndrome mice

2012

Hippocampal dysfunction in the Euchromatin histone methyltransferase 1 heterozygous knockout mouse model for Kleefstra syndrome

Update on Kleefstra Syndrome (2012)

2011 or earlier

Epigenetic Regulation of Learning and Memory by Drosophila EHMT/G9a

Reduced exploration, increased anxiety, and altered social behavior: Autistic-like features of euchromatin histone methyltransferase 1 heterozygous knockout mice