Publications

 

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Disclaimer: Please note, papers in medRxiv (pronounced med-archive) or bioRxiv (pronounced bio-archive), are not peer-reviewed or edited before being posted online.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.

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Genetic Condition
Year of Publication
92 Publications
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.Show Less
Autism Res 15, 2081-2098 (2022)
Smith et al.

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16p11.2 deletion
16p11.2 duplication
2022
Clinical, neuroimaging and molecular characteristics of PPP2R5D-related neurodevelopmental disorders: An expanded series with functional characterisation and genotype–phenotype analysis
  • This is the first publication on PPP2R5D that focuses on Simons Searchlight data.Show More
  • PPP2R5D stands for protein phosphatase 2 regulatory subunit B delta. In cells, PPP2R5D is an enzyme that adds a molecule called a phosphate to the amino acids serine and threonine.
  • This study includes 72 Simons Searchlight participants with a pathogenic or likely pathogenic genetic variant in PPP2R5D. This adds to the 31 people with PPP2R5D genetic variants that have been published to date in the medical literature.
  • The researchers studied the function PPP2R5D genetic variants and grouped the variants into three different categories.
  • Participants ranged in age from 1 to 45 years old. Most participants had low muscle tone and a larger-than-average head size. About half of the participants had seizures, with an average age of seizure onset at just over 2. Seizure activity varied between participants: some had more than 100 seizures a day, others had one a year.
  • Participants had the most difficulty with expressive communication and personal daily living skills. About 1 in 3 participants had acid reflux and constipation.
  • The researchers found that about 1 in 5 participants had developmental delay or intellectual disability, which is lower than what other studies have reported.
  • The researchers looked at if there was any link between genetic variants and medical features. Most people with a Glu198Lys and Trp207Arg had the most consistent set of medical features, both of these variants are in the same functional category.
  • This was the largest study to date of participants with a PPP2R5D genetic variant. For the first time, researchers were able to investigate on a large scale the function that genetic variants have in the cell in relation to clinical features.Show Less
J Med Genet Epub ahead of print, (2022)
Oyama et al.

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PPP2R5D
2022
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.Show Less
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.Show Less
iJOE 18, (2022)
Ali et al.

Tags:

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.Show Less
bioRxiv Preprint, (2022)
Prem et al.

Tags:

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.Show Less
Neurol Genet 8, e200018 (2022)
Moufawad et al.

Tags:

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.Show Less
Stem Cell Rep 17, 1380-1394 (2022)
Connacher et al.

Tags:

16p11.2 deletion
2022