Publications

Date Revised: October 2024

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 chronologically, from oldest to newest. You can explore publications by specific genetic conditions using the categories below.

As of October 2024, Simons Searchlight has contributed to 108 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Please be aware that papers posted on medRxiv (pronounced med-archive) or bioRxiv (pronounced bio-archive) are not peer-reviewed or edited before online publication.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
108 Publications
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

Characterizing cognitive control abilities in children with 16p11.2 deletion using adaptive ‘video game’ technology: a pilot study
  • To study attention and cognition, which includes thinking, memory, language, judgment, and the ability to learn new things, in children with 16p11.2 deletions, these researchers developed a video game. Show More
  • 20 children with 16p11.2 deletions, 16 of their siblings and 75 children without the 16p11.2 deletion in Simons Searchlight were recruited at two Simons Searchlight family conferences held in 2013 and 2015.
  • Children took an attention test and played an attention video game.
  • The researchers found no difference in attention test between the three groups of children, but children with 16p11.2 deletions responded more slowly when playing the video game test.
  • Researchers think that the entertaining video game test made the kids pay closer attention during the test, leading to a more accurate reading of their cognitive abilities.
  • These researchers suggest this type of test could be useful in medical clinics for evaluations of attention and cognitive abilities. Show Less
Transl Psychiatry 6, e893 (2016)
Anguera et al.
Full Article

16p11.2 deletion
2016

Reciprocal White Matter Alterations Due to 16p11.2 Chromosomal Deletions versus Duplications
  • 30 children and 7 adults with 16p11.2 deletions, 13 children and 22 adults with 16p11.2 duplications, and 28 unaffected adults in Simons Searchlight were studied to look at brain white matter structure (white matter has nerve fibers that are extensions of nerve cells). Show More
  • Both adults and children took IQ and social behavior tests, and brain white matter structures were looked at using a magnetic resonance imaging (MRI) technique called diffusion tensor imaging (DTI).
  • Researchers found that people with 16p11.2 deletions have more brain white matter, while those with 16p11.2 duplications.
  • These researchers say that DTI measurements can be used to predict whether a person had a 16p11.2 deletion or duplication, and these brain changes also matched up with IQ scores and measurements of social behavior. Show Less
Human Brain Mapp 37, 2833-2848 (2016)
Chang et al.
Full Article

16p11.2 deletion
16p11.2 duplication
2016