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Publications

Date Revised: March 2025

Thank you to all the families for participating in Simons Searchlight. Through your involvement, we aim to assist researchers and geneticists worldwide in understanding genetic disorders affecting you or your family.

The research conducted using Simons Searchlight data has resulted in numerous published papers. These papers undergo a peer-review process, where other scientists assess and validate the research before publication in scientific journals. Additionally, some findings are shared via preprints, allowing rapid dissemination of information to the scientific community.

Many of the publications feature the name “Simons Variation in Individuals Project” (SimonsVIP), which was the original name of our research program, now known as Simons Searchlight.

The listed articles are organized from newest to oldest. You can explore publications by specific genetic conditions using the categories below.

As of March 2025, Simons Searchlight has contributed to 117 publications and preprints, and we will continue to summarize new publications.

For accessibility, the Simons Foundation encourages researchers to make their publications open access. If you cannot access a journal article, we recommend reaching out to the last author listed on the paper to request a copy.

Understanding Publication Reference Titles:

-The article title is followed by publication details, including where and when it was published.
– If there are more than three authors, we use “et al.” to represent additional contributors.
– Journals are referenced using shorthand names.

Disclaimer: Please be aware that papers posted on medRxiv (pronounced med-archive) or bioRxiv (pronounced bio-archive) are not peer-reviewed or edited before online publication. In contrast, all other articles listed here have undergone review by fellow researchers to ensure quality and accuracy. While posting on medRxiv or bioRxiv allows researchers to share findings quickly, the final published results may differ after undergoing formal peer review for journal publication.

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Genetic Condition
Year of Publication
117 Publications
Aberrant white matter microstructure in children with 16p11.2 deletions
  • Young people (ages 8-16) with 16p11.2 deletions received IQ tests and non-invasive magnetic resonance imaging (MRI).Show More
  • This is the first-ever study looking at the structure of the brain for 16p11.2 deletion individuals.
  • Neurologists found that children with 16p11.2 deletions had changes in the developing white matter of the brain.
  • Some children with 16p11.2 deletions have a mild learning disability while others have significant learning, behavior, and medical issues.Show Less
J Neurosci 34, 6214-6223 (2014)
Owen et al.
Full Article

16p11.2 deletion
2014

Opposing brain differences in 16p11.2 deletion and duplication carriers
  • Brain measurements and structure were examined in Simons Searchlight participants to see if having more or less of the 16p11.2 genetic region resulted in any differences.Show More
  • This paper included 25 children carrying 16p11.2 deletions and 17 adults carrying 16p11.2 duplications.
  • Compared to neurotypical people, people with deletions in 16p11.2 had increased brain size, while those with duplications had smaller brain size.
  • These effects were very noticeable in the outer covering of the cerebral part of the brain (the cortical surface area).
  • This suggests that genes in the 16p11.2 region is important for brain development in utero.
  • Research was supported by a grant from SFARI.Show Less
J Neurosci Res 34, 11199-11211 (2014)
Qureshi et al.
Full Article

16p11.2 deletion
16p11.2 duplication
2014

Eating in the absence of hunger but not loss of control behaviors are associated with 16p11.2 deletions
  • Many people with deletions within 16p11.2 region may have a diagnosis of obesity.Show More
  • To look at how this genetic change leads to weight gain, 64 people with the deletion, 29 with the duplication and 55 relatives from Simons Searchlight were studied.
  • Analysis of growth and information from parental questionnaires suggests that obesity in people with the deletion was partly from eating behaviors influenced by outside factors. Such as, the appeal of good-tasting food, eating because others were still eating and eating out of boredom, but not fatigue or anxiety. The researchers did not find that people with 16p11.2 deletion have loss of control over eating.
  • The authors suggest that there are still other factors that may play a role in overeating in people with 16p11.2 deletions.
  • This work was supported by a Simons Searchlight grant.Show Less
Obes 22, 2625-2631 (2014)
Gill et al.
Full Article

16p11.2 deletion
2014

Simons Variation in Individuals Project (SimonsVIP): A genetics-first approach to studying autism spectrum and related neurodevelopmental disorders
  • The Simons Variation in Individuals (VIP) Project was phase 1 (part 1) of Simons Searchlight. Show More
  • Phase 1 collected detailed family, medical, behavioral and neurological information, as well as blood and skin samples, at five clinical centers across the US.
  • Phase 1 focused on people with 16p11.2 deletions or duplications.
  • This publication announced the project as a large-scale resource to the scientific community, and a source of information for families. Show Less
Neuron 73, 1063-1067 (2012)
The Simons VIP Consortium
Full Article

16p11.2 deletion
16p11.2 duplication
2012

A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders
  • People registered in Simons VIP and from European research projects carrying the 16p11.2 deletion, were tested for their mental abilities, given behavioral questionnaires and had medical data collected. Show More
  • Researchers found that 16p11.2 deletion carriers are more likely to have a lower IQ, a higher incidence of psychiatric diagnoses and suffer from obesity, as compared to their family members without this deletion. Show Less
J Med Genet 49, 660-668 (2012)
Zufferey et al.
Full Article

16p11.2 deletion
2012