MED13L

Learn more about the MED13L gene and connect with other Simons Searchlight families with the resources below:

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Support Resources

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Presentations

Simons Searchlight Family & Research Conference 2020

MED13L Virtual Conference

 

General Session 1

 

General Session 2

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Research Article Summaries

Below, we have summarized research articles about changes in the MED13L gene. We hope you find this information helpful.

The information available about MED13L is limited, and families and doctors share a critical need for more information. As we learn more from children who have a change in this gene, we expect this list of resources and information to grow.

You can also visit the Simons Foundation’s SFARI Gene website to see information for researchers about this gene.

 

Further confirmation of the MED13L haploinsufficiency syndrome

Original research article by M.M. van Haelst  et al. (2015).

Read the abstract here and the Simons Searchlight summary here.

 

The clinical significance of small copy number variants in neurodevelopmental disorders

Original research article by R. Asadollahi et al. (2014). 

Read the abstract here and the Simons Searchlight summary here.

 

Dosage changes of MED13L further delineate its role in congenital heart defects and intellectual disability

Original research article by R. Asadollahi et al. (2013).

Read the abstract here and the Simons Searchlight summary here.

 

De novo gene disruptions in children on the autistic spectrum

Original research article by E.M. Iossifov et al. (2012)

Read the abstract here and the Simons Searchlight summary here.

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Research Opportunities

Simons Searchlight

Help the Simons Searchlight team learn more about MED13L genetic changes by taking part in our research. You can learn more about the project and sign up here.

TIGER Study

The University of Washington’s Autism Center seeks to better understand the medical, learning, and behavioral features of people with changes in MED13L.

Click here to learn more about this opportunity.

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Family Stories

Stories from MED13L families:

Click here to share your family’s story!