ADNP

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

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Support Resources

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GeneReviews

GeneReviews are a great resource to bring to your child’s clinicians. These publications provide a summary of current research on genetic conditions and information on ongoing care.

Check out the GeneReviews for ADNP.

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Research Article Summaries

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

The information available about ADNP 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.

 

ADNP – Brain development gene emerges as strong autism gene candidate

News article by Kate Yandell in the Simons Foundation’s online publication Spectrum.

Read the article here and the Simons Searchlight summary here.

 

A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP

Original research article by Helsmoortel C., et al. (2014).

Read the abstract here and the Simons Searchlight summary here.

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Research Opportunities

ADNP Research Project

Registry affiliated with Dr. Kooy and Dr. Eichler

For specific information about features seen in 12 patients with ADNP gene changes, click on “Clinical Features” on the main page. This summary of information is particularly helpful for families, researchers, and clinicians.

Simons Searchlight

Help the Simons Searchlight team learn more about ADNP 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 ADNP.

Click here to learn more about this opportunity.

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Family Stories

Stories from ADNP families:

Click here to share your family’s story!