Publications

Date Revised: January 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 April 2024, Simons Searchlight has contributed to 98 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Please be aware that papers posted on medRxiv (pronounced med-archive) or bioRxiv (pronounced bio-archive) are not peer-reviewed or edited before online publication.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
98 Publications
Brief report: Differences in naturalistic attention to real-world scenes in adolescents with 16p.11.2 deletion
  • The goal of this research was to study the specific clinical manifestations in people with a 16p11.2 deletion.Show More
  • People with a 16p11.2 deletion have an increased rate of autism and autism-related traits.
  • The researchers did eye-tracking studies in 21 teenage and adult participants with a 16p11.2 deletion and 23 participants without a genetic condition. Participants with a 16p11.2 deletion were recruited from Simons Searchlight.
  • The researchers used a virtual reality headset to show the participants real-world scenes, with objects, people, or background scenery. The researchers created eye-tracking maps based on what the participant focused on.
  • The researchers found that sex, IQ, and autistic traits were not good predictors of what the participant focused on. Participants with a 16p11.2 deletion had less observing across each scene and fewer fixations. The researchers suggested studying younger participants with a 16p11.2 deletion to see if a more obvious pattern would emerge.
J Autism Dev Disord Epub ahead of print, (2022)
Haskins et al.
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16p11.2 deletion
2022
ConVnet BiLSTM for ASD classification on EEG brain signal
  • The goal of this research was to develop and validate a new computer-based method to assist doctors in diagnosing autism. The method used a convolutional neural network (ConVnet) structure that merges two LSTM blocks (BiLSTM). This computational deep learning method identifies patterns in electroencephalogram (EEG) information to help with diagnoses. ConVnet BiLSTM has been used with high accuracy in recent research studies on other topics, such as seizure detection or human motor recognition.Show More
  • This study included Simons Searchlight participants with a 16p11.2 deletion or a 16p11.2 duplication, as well as people with no genetic conditions from Boston Children’s Hospital. Participants were age 10 and younger.
  • Using the ConVnet BiLSTM method, the researchers were able to classify participants as autistic in a quick, inexpensive, and noninvasive way. The researchers created a recognizable pattern from participant EEGs. This deep learning method predicted autism with over 97 percent accuracy.
  • The researchers suggested that this method could be used by doctors to assist in the diagnosis of autism as an alternative to the current behavioral criteria from the diagnostic manual.
iJOE 18, (2022)
Ali et al.
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16p11.2 deletion
16p11.2 duplication
2022
Dysregulation of mTOR signaling mediates common neurite and migration defects in both idiopathic and 16p11.2 deletion autism neural precursor cells
  • The goal of this research was to find out if there are brain developmental similarities between people with autism that has a genetic cause and people with autism that has no identified genetic cause.Show More
  • Participants with autism that has no known genetic cause were invited to the study. The study also included Simons Searchlight participants with a 16p11.2 deletion. Biological samples were collected from all participants. Samples were also collected from participants’ siblings who did not have autism. Participants’ cells were turned into brain cells that could be studied in the laboratory.
  • The researchers found that the laboratory brain cells from participants with 16p11.2 deletion grew and moved differently than the laboratory brain cells from their siblings, who did not have the deletion. The 16p11.2 deletion cells were more similar to the cells from participants with autism that had no genetic cause. These findings suggest that autism might develop following a common developmental process.
  • But, the researchers found some differences between the 16p11.2 deletion cells and the cells from participants with autism that had no genetic cause. They thought that the differences might be due to the ability of the cells to respond to communication factors.
  • The researchers found that tight control of the cell communication process—not too much and not too little—is very important for brain development.
bioRxiv Preprint, (2022)
Prem et al.
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16p11.2 deletion
2022
Clinical characteristics of seizures and epilepsy in individuals with recurrent deletions and duplications in the 16p11.2 region
  • The researchers aimed to review how many people with a 16p11.2 copy number variant (CNV) develop seizures or epilepsy. A CNV happens when there is a change in a section of DNA that results in a gene or several genes being deleted or duplicated. 16p11.2 deletion is an example of a CNV.Show More
  • This study included Simons Searchlight participants: 129 with a 16p11.2 deletion and 106 with a 16p11.2 duplication.
  • Of the 129 participants with a 16p11.2 deletion, 31 were found to have had at least one seizure (24 percent). When assessed for epilepsy, 23 out of 129 participants (18 percent) received an epilepsy diagnosis. Participants with a 16p11.2 deletion had their first seizure between birth and 14 years old. The most common seizure type was a focal seizure.
  • Of the 106 participants with a 16p11.2 duplication, 17 had at least one seizure (16 percent). Also, 12 participants received an epilepsy diagnosis (11 percent). Participants had their first seizure between 1 and 10 years old. The most common seizure type was also a focal seizure for participants with a 16p11.2 duplication.
  • Successful anti-seizure treatment varied among participants.
  • This paper includes summary tables with all the seizure types and epilepsy details for all participants.
  • This research confirmed that seizure occurrence is associated with the 16p11.2 CNV. MRI brain imaging, which was done in only a small number of participants, did not explain the presence of abnormal brain activity.
Neurol Genet 8, e200018 (2022)
Moufawad et al.
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16p11.2 deletion
16p11.2 duplication
2022
Autism NPCs from both idiopathic and CNV 16p11.2 deletion patients exhibit dysregulation of proliferation and mitogenic responses
  • The majority of people with an autism diagnosis have a known genetic cause for their autism, also called idiopathic autism. Only about 1 in 5 people receive a genetic diagnosis associated with their autism.Show More
  • The goal of this research was to understand why some people with idiopathic autism develop larger than average head size and others do not. To do this, researchers used induced pluripotent stem cells (iPSCs) made from participants with a 16p11.2 deletion, because people with this deletion tend to have a larger than average head size. iPSCs are a special type of cells that can be turned into other body cells, making it easier to study parts of the body that are difficult to study, such as brain cells.
  • Two of the iPSCs, from Simons Searchlight participants with a 16p11.2 deletion, were turned into brain cells in the laboratory. The researchers also studied iPSCs from three families participating in the New Jersey Language and Autism Genetics Study and two people without autism from the National Institutes of Health (NIH).
  • This paper summarized clinical and intellectual information on the participants.
  • In all participants with idiopathic autism, there were problems with cell growth control. Two participants had a decrease in the number of cells that were able to grow, and one participant had cell overgrowth. All participants with a 16p11.2 deletion had increased cell growth.
  • The researchers tested all the cells to see if there were similar genetic pathways causing the cell growth problems. They found that the cells from participants with idiopathic autism had different patterns of genetic markers. The cells from participants with a 16p11.2 deletion had some similar genetic patterns.
  • The researchers suggested that too much or too little neurodevelopmental mechanisms contributes to the development of autism.
Stem Cell Rep 17, 1380-1394 (2022)
Connacher et al.
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16p11.2 deletion
2022
Sensory processing in 16p11.2 deletion and 16p11.2 duplication
  • The researchers aimed to understand how people with a 16p11.2 copy number variant (CNV) process sensory information. A CNV happens when there is a change in a section of DNA that results in a gene or several genes being deleted or duplicated. 16p11.2 deletion is an example of a CNV.Show More
  • This study included 38 children with a 16p11.2 deletion, 31 children with a 16p11.2 duplication, and participants from the Simons Searchlight registry.
  • Challenges with sensory processing are common for people with autism. This includes having difficulty with stimulation from the senses, such as light, texture, taste, and sound.
  • Participants with either a 16p11.2 deletion or a 16p11.2 duplication were more likely to have sensory processing challenges than participants without a 16p11.2 deletion or duplication. The sensory processing challenges for participants with a 16p11.2 deletion or duplication were comparable to the sensory processing challenges for participants with autism.
  • Participants with a 16p11.2 deletion or duplication were most likely to have issues with registering sensory information. Participants with a 16p11.2 duplication were more likely to be sensitive to sensory information. Other patterns of sensory processing, such as seeking and avoiding sensory information, were not as common in these two groups.
  • Participants with a 16p11.2 deletion or duplication and autism were more likely to have issues with touch and oral sensations than participants who did not have autism.
  • These results suggest that a detailed breakdown of sensory processing in people with a 16p11.2 deletion or duplication could be used for clinical evaluations.
Autism Res 15, 2081-2098 (2022)
Smith et al.
Full Article

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16p11.2 deletion
16p11.2 duplication
2022
Overexpression of CD47 is associated with brain overgrowth and 16p11.2 deletion syndrome
  • People with a 16p11.2 deletion often have a large head size, and MRIs show that they have an enlargement in brain matter volume.Show More
  • The researchers got induced pluripotent stem cells (iPSCs) from Simons Searchlight to study why brain matter is larger for people with a 16p11.2 deletion.
  • iPSCs are a special type of cells that can be turned into other body cells, making it easier to study parts of the body that are difficult to study, such as brain cells.
  • The researchers got iPSCs from six people with a 16p11.2 deletion, two people with a 16p11.2 duplication, and three people with no genetic change. They also got medical data on the people who donated the cells from Simons Searchlight. Four of the six people with a 16p11.2 deletion had much larger head sizes than the average population.
  • The researchers turned the iPSCs into brain cells and studied changes in gene expression and cell communication. They found that the 16p11.2 deletion cells had an increase in a cell signal called CD47. CD47 stands for cluster of differentiation 47, and it acts like a ‘don’t eat me’ signal to the immune system.
  • The researchers showed that immune cells were less likely to eat the 16p11.2 deletion cells than the 16p11.2 duplication cells or regular brain cells. In similar studies done in mice, the researchers showed that brain cells with extra CD47 were less likely to be eaten by immune cells.
  • The researchers suggested that brain growth and enlargement in people with a 16p11.2 deletion could be due to cell communication factors.
Proc Natl Acad Sci USA 118, e2005483118 (2021)
Li et al.
Full Article

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16p11.2 deletion
2021