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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Please be aware that papers posted on medRxiv (pronounced med-archive) or bioRxiv (pronounced bio-archive) are not peer-reviewed or edited before online publication.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
Maternal modifiers and parent-of-origin bias of the autism-associated 16p11.2 CNV
  • 459 individuals from 126 families enrolled in Simons Searchlight with a 16p11.2 deletion or duplication underwent genetic analysis to see if there is a difference if inherited from the mother or father.Show More
  • 79 people with non-inherited 16p11.2 deletions or duplications had the genetic change occur on the maternally-inherited copy in most cases (9 out of 10 times).
  • This maternal tendency was not observed for 16p11.2 deletions or duplications that were inherited.
  • These finding suggest that non-inherited 16p11.2 deletions or duplications are due to an increase in genetic material swapping (recombination) during female egg cell formation.
  • Similarly, in this study, about 8 out of 10 people with other genetic deletions were found to be either non-inherited or from their mothers.
  • While more genetic deletions only mildly affected a person’s IQ, they were related to more severe overall clinical features.
  • Researchers suggest that understanding of the variation of clinical features in people with 16p11.2 requires full genetic sequencing.Show Less
Am J Hum Genet 98, 45-57 (2016)
Duyzend et al.
Full Article

16p11.2 deletion
16p11.2 duplication
2016

Defining the effect of the 16p11.2 duplication on cognition, behavior, and medical comorbidities
  • To gain a better understanding of the clinical features people with 16p11.2 deletions and duplications may have, researchers studied the largest group of people to date. This included 1006 people, 270 16p11.2 duplication carriers, 390 deletion carriers, and 346 relatives. Show More
  • Data was collected from three studies, 1) Simons Searchlight, 2) the 16p11.2 European Consortium and 3) the Cardiff University Experiences of Children With Copy Number Variants.
  • Results found that the frequency of ASD diagnoses and IQ issues were similar for 16p11.2 deletions and duplications.
  • However, 16p11.2 duplications exhibit a range of IQ deficits from mild to severe, while 16p11.2 deletions exhibit overall moderate IQ deficits.
  • Both deletion and duplication carriers have delays in learning to walk, yet duplication carriers are more likely to have more delays of over 2 years.
  • Finally, people with 16p11.2 duplications had a 2.5 times increase in the presence of additional deletions or duplications in other regions of their DNA. This suggests that the extra or missing pieces of other genetic information might contribute to the clinical features of people with a 16p11.2 duplication. Show Less
JAMA Psychiatry 73, 20-30 (2016)
D'Angelo et al.
Full Article

16p11.2 duplication
2016

Behavior and Sensory Interests Questionnaire: Validation in a sample of children with autism spectrum disorder and other developmental disability
  • To understand restricted and repetitive behaviors in children with autism and developmental disability, these researchers created the Behavior and Sensory Interests Questionnaire (BSIQ). Show More
  • Participants were recruited from three studies, 1) the Simons Simplex Collection, 2) the Boston-based Autism Consortium, and 3) Simons Searchlight.
  • This study included four groups of people to test how well this survey can understand restricted and repetitive behaviors, 1) 342 people with ASD without intellectual disability (ID), 2) 83 people with ASD and intellectual disability, 3) 113 people with ID only, and 4) 166 neurotypical people.
  • The researchers found that this survey was very useful for understanding and measuring the restricted and repetitive behaviors in the ASD and ID population, however, it is not enough to make a diagnosis of ASD on its own. Show Less
Res Dev Disabil 48, 160-175 (2016)
Hanson et al.
Full Article

16p11.2 deletion
16p11.2 duplication
2016

A highly penetrant form of childhood apraxia of speech due to deletion of 16p11.2
  • Children with 16p11.2 deletions were studied to understand the types of language difficulties they might have, and to see how common language difficulties are.Show More
  • 11 children between the ages of 5-18 were recruited while attending a Simons Searchlight Family Conference in 2013 and asked to take part in a language study.
  • Children spent about 1 hour doing language tests, an IQ test and, fine and gross motor movement tests. Researchers also interviewed family members during this time.
  • All 11 children had issues with their non-verbal IQ, and difficulties with general motor movement.
  • While all of the children also had some level of problems with speech, these researchers found, all of the 9 children with language skills were still diagnosed with a motor speech disorder called childhood apraxia of speech (CAS).
  • In the general population CAS is very rare. Since 16p11.2 deletions seem to cause a very specific form of speech issue, as found in this small group, the researchers stress that it might be worth testing people with CAS for a 16p11.2 deletion. Show Less
Eur J Hum 24, 302-306 (2016)
Dedorenko et al.
Full Article

16p11.2 deletion
2016

Clinical phenotype of the recurrent 1q21.1 copy-number variant
  • This was Simons Searchlight’s first publication on the 1q21.1 copy-number variant. Show More
  • Detailed medical exams were done on 9 children and 10 adult family members with 1q21.1 deletions, 10 children and 9 adult family members with 1q21.1 duplications and 23 family members without 1q21.1 changes who were in Simons Searchlight.
  • Medical histories were collected through interviews, and tests were given to measure psychiatric and neurological functioning, IQ, language and movement abilities.
  • People with 1q21.1 deletions and duplications were found to have a lower IQ and problems with language and motor skills.
  • People with 1q21.1 duplications were more likely to be diagnosed with ASD, and to have more ASD symptoms, compared to people with deletions.
  • People with 1q21.1 duplications were also more likely to have larger head sizes, while people with deletions were more likely to have smaller head sizes.
  • 15 of the people with 1q21.1 deletions and 13 with duplications also had structural magnetic resonance brain imaging (sMRI) to look at brain size. They found that 3 of the 13 people with duplications had smaller brain size.
  • Researchers stress the importance of these careful and detailed exams to understand how a 1q21.1 deletion or duplication affects development. Show Less
Genet Med 4, 341-349 (2016)
Bernier et al.
Full Article

1q21.1 deletion
1q21.1 duplication
2016

Auditory evoked M100 response latency is delayed in children with 16p11.2 deletion but not 16p11.2 duplication
  • Responses to sound were studied using magnetoencephalography (MEG) in 35 children with 16p11.2 deletions, 16 children with 16p11.2 duplications, and 48 same aged children who were in Simons Searchlight.Show More
  • MEG can detect brain activity.
  • As part of their participation in Simons Searchlight, the children with 16p11.2 deletions and duplications were also seen by doctors and given surveys to gather information on psychiatric diagnoses, IQ, language skills and social behaviors.
  • These researchers found that children with 16p11.2 deletions had a slow or delayed brain response to simple sounds, while this was not seen in children with 16p11.2 duplications or the children of the same age.
  • The slowed response was a little more obvious in 8 children with 16p11.2 deletions who also had ASD.
  • These delays in the response to sound were not found to be connected to other routine medical tests, and because of this, the researchers highlight that the brain response is not a predictor of medical or behavioral outcomes.Show Less
Cereb Cortex 5, 1957-1964 (2016)
Jenkins et al.
Full Article

16p11.2 deletion
16p11.2 duplication
2016

Relationship between M100 auditory evoked response and auditory radiation microstructure in 16p11.2 deletion and duplication carriers
  • 30 children with 16p11.2 deletions, 9 with 16p11.2 duplications and 39 children of the same age in Simons Searchlight studied to see if changes in brain structure is related to how the brain responds to sound. Show More
  • The children underwent psychological, IQ and behavioral exams with child psychologists.
  • Prior work (Also a Simons Searchlight paper: Auditory Evoked M100 Response Latency is Delayed in Children with 16p11.2 Deletion but not 16p11.2 Duplication. Jenkins, J. 3rd. et al. Cereb Cortex. 5, 1957-1964 (2016)) found that children with either 16p11.2 deletions or duplications have alterations to their brain structure, but only the children with deletions have slower brain responses to sound.
  • To see how brain structure and sound responses might be related, brain structure was looked at within the brain region that processes sounds using diffusion magnetic resonance imaging (DTI), while brain responses to sound were measured with magnetoencephalography (MEG).
  • Researchers found that the connection between brain structure and response to sound was damaged in children with both 16p11.2 deletions and duplications.
  • Researchers conclude that the changes in brain structure can only partially explain delays in sound responses in 16p11.2 deletion children, and that children with 16p11.2 duplications may have other brain changes allowing them to have a more normal response to sound. Show Less
Am J Neuroradiol 37, 1178-1184 (2016)
Berman et al.
Full Article

16p11.2 deletion
16p11.2 duplication
2016