Below is the list of published research papers that were made possible through the Simons Searchlight research registry. Thank you to all the families for participating in Simons Searchlight. Our long-term goal is to continue to help researchers and leading geneticists from around the world learn about you or your family’s genetic disorders.
We summarized the overall points and main findings of the research articles, although you can click on the link “Full Article” if you would like to see the original paper.
You will notice, that there are many papers that include the name, Simons Variation in Individuals Project or SimonsVIP. This is because Simons Searchlight was originally called SimonsVIP and they are one and the same research program.
We have listed the articles in order of date, from oldest to newest. Please click on the categories below to look for publications on specific genetic conditions. As of January 2023, Simons Searchlight resources have been used in 92 publications and preprints, we will continue to summarize publications as they come out.
The Simons Foundation encourages researchers to make publications free to the public, also called open access. If you are unable to access the official journal articles, we recommend that you contact the author listed last on the article to request a copy.
How to read the publication reference titles:
After the title of the article, we include other details about where the article was published and the year it was written. If there were more than 3 authors, the words “et al” are used instead of listing all the authors. “Et al” means “and others.” The name of the journal is written in shorthand.
Disclaimer: Please note, papers in medRxiv (pronounced med-archive) or bioRxiv (pronounced bio-archive), are not peer-reviewed or edited before being posted online. All other articles in journals listed here have been reviewed by other researchers for quality control. When a paper is posted on medRxiv or bioRxiv, the researchers are able to make their findings available right away to the medical and scientific community. However, because they have not been reviewed by other researchers, the final results might look a little different once they are officially published in a journal.