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Please be aware that papers posted on medRxiv (pronounced med-archive) or bioRxiv (pronounced bio-archive) are not peer-reviewed or edited before online publication.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
Brain MR imaging findings and associated outcomes in carriers of the reciprocal copy number variation at 16p11.2
  • To study brain structure 79 people with 16p11.2 deletions, 79 with duplications and 64 family members in Simons Searchlight, along with 109 people in the general population had brain imaging exams. Show More
  • People with 16p11.2 deletions had thicker region of the brain that connects the left and right sides of the brain (corpus callosum), abnormalities in the region that connects the brain to the spine (dens and craniocervical) and a miss position of the part of the brain involved in coordination and movement (cerebellum).
  • People with 16p11.2 duplications had a thinning of region of the brain that connects the left and right sides of the brain (corpus callosum), less nerve fibers (white matter) and larger fluid filled spaces (ventricles).
  • Participants also took behavioral and IQ tests on the same day as brain imaging, and researchers found that there was a link between the structural brain changes that was related to the issues seen in social behavior, communication skills and IQ abilities. Such as, in people with 16p11.2 deletions, the issues with the thickness of the corpus callosum was associated with problems in social function. Show Less
Radiology 286, 217-226 (2018)
Owen et al.
Full Article

16p11.2 deletion
16p11.2 duplication
2018

Incorporating social media into your support tool box: Points to consider from genetics-based communities
  • Simons Searchlight and GenomeConnect participants were invited to participate in a survey to study how communities who underwent genetic testing use social media.Show More
  • 103 people responded to the survey, and the researchers found that most participants used social media, and in 2018, Facebook was the top platform being used.
  • The researchers found that the use of Facebook was higher in the genetic community than in the general public. Most said that they were using Facebook to learn more about their diagnosis, ask questions about their or their dependent’s condition, and connect with others in the community.
  • Many participants responded that they are in favor of a researcher or clinician being involved in their Facebook group. The researchers suggested that this might be so that professionals can help answer questions.Show Less
J Genet Couns 27, 470-480 (2018)
Rocha et al.
Full Article

All Genes
2018

Deep phenotyping of speech and language skills in individuals with 16p11.2 deletion
  • To study the common childhood apraxia of speech found in people with 16p11.2 deletions, adults and children in Simons Searchlight underwent in-person testing. Show More
  • Researchers looked at the many details of speaking, including producing sound, issues with complex words, and speed of speaking.
  • For the 44 people studied, most had difficulty speaking (39 out of 44).
  • Most children had issues with receptive and expressive language. Receptive language is listening and understanding language. Expressive language is talking and expressing your thoughts.
  • Most adults had issues with receptive vocabulary and understanding language.
  • The researchers found that speech or language problems were more common in participants with 16p11.2 deletions than originally thought. They also found that some speech issues in children were not seen in adults, which suggests that language issues might change overtime.
  • Importantly, the researchers were not able to link the language issues to other neurodevelopmental conditions, such as autism, ADHD, or epilepsy in children. However, they did find that memory issues were linked to language issues.
  • This research was supported by a grant from the Simons Foundation Autism Research Initiative (SFARI).Show Less
Eur J Hum Genet 5, 676-686 (2018)
Mei et al.
Full Article

16p11.2 deletion
2018

Human-specific NOTCH2NL genes affect Notch signaling and cortical neurogenesis
  • People with a 1q21.1 deletion have a smaller than average brain size, and people with a 1q21.1 duplication have a larger than average brain size.Show More
  • Researchers studied the section of human DNA located at 1q21.1 (meaning the long arm of chromosome 1, region 2, band number 1, sub-band 1).
  • In humans, the DNA section 1q21.1 has 3 genes that are involved in brain development named NOTCH2-NLA, NOTCH2-NLB, and NOTCH2-NLC.
  • NOTCH2 stands for Neurogenic locus notch homolog protein 2. NLA, NLB, and NLC stand for N-terminal like A, B, or C.
  • The researchers suggested that the NOTCH2-N-terminal like genes have helped humans to develop complex brain structure, but these genes might also be the reason why there are deletions or duplications in the 1q21.1 DNA section.
  • They compared the differences between the NOTCH2-N-terminal like genes A, B, and C in humans and other animal species.
  • They found that the NOTCH2-N-terminal like genes interact with each other to promote NOTCH2 activity.
  • Skin cells from six Simons Searchlight 1q21.1 participants were studied for this research.Show Less
Cell 173, 1356-1369 (2018)
Fiddes et al.
Full Article

1q21.1 deletion
1q21.1 duplication
2018

Autism-associated 16p11.2 microdeletion impairs prefrontal functional connectivity in mouse and human
  • To study how the brain cells are connected and communicate with each other, researchers did resting state magnetic resonance imaging (MRI) in Simons Searchlight participants with 16p11.2 deletions.Show More
  • Researchers studied 19 children with a 16p11.2 deletion and 28 children without a deletion.
  • The researchers found that participants with a 16p11.2 deletion had issues with the region of the brain involved in reasoning, problem solving, comprehension, impulse-control, creativity, and perseverance.
  • The researchers did MRIs on mice with a 16p11.2 deletion. The mice had similar issues in the brain as humans. The researchers suggested that mice can be used to study 16p11.2 deletion brain function.
  • This research was supported by a grant from the Simons Foundation Autism Research Initiative (SFARI).Show Less
Brain 141, 2055-2065 (2018)
Bertero et al.
Full Article

16p11.2 deletion
2018

Progress in understanding and treating SCN2A-mediated disorders
  • This is the first publication to focus on Simons Searchlight SCN2A data.Show More
  • SCN2A stands for Sodium channel protein type 2 subunit alpha. SCN2A is involved in brain cell activity.
  • Simons Foundation Autism Research Initiative (SFARI) and Simons Searchlight organized a meeting of experts on SCN2A that came together to publish this paper on what is known about SCN2A.
  • The researchers described which type of brain cells need SCN2A function in humans, and what has been studied in mice.
  • Experts described the three types of medical conditions that can happen when people have a genetic change in SCN2A. They suggested that there could be 400 infants born with an SCN2A condition in the U.S. each year.
  • Depending on the SCN2A genetic change, the genetic condition could be a result of either too much SCN2A activity in the brain or too little SCN2A activity. There is a fine balance of what is needed for proper brain activity.
  • Whether a person has an SCN2A variant that causes too much or too little activity will need to be known for future treatment options. There are no treatment options available yet.
  • At the end of the publication, the researchers outlined the most important questions scientists need to answer to help understand SCN2A conditions and develop treatments.
  • This research was supported by a grant from the Simons Foundation Autism Research Initiative (SFARI).Show Less
Trends Neurosci 41, 442-456 (2018)
Sanders et al.
Full Article

SCN2A
2018

Focal cortical anomalies and language impairment in 16p11.2 deletion and duplication syndrome
  • To look at how thick the cortical region of the brain is in people with a 16p11.2 deletion or duplication, researchers did magnetic resonance imaging (MRI) in Simons Searchlight participants. The cortical region of the brain is the outermost layer of nerve cells all around the brain, and it is made up of several layers. Show More
  • People 8 years and up were included in this large imaging study: 43 people with a 16p11.2 deletion, 45 people with a 16p11.2 duplication, 2 people with a 16p11.2 triplication, and 106 people without a deletion or duplication.
  • The researchers found that participants with a 16p11.2 deletion or duplication had variations in the thickness of their cortical regions, and this was not uniform across the whole brain.
  • Participants with 16p11.2 deletions had thick cortical regions that were important for understanding language, hearing, processing vision, and sensing touch. Participants with 16p11.2 duplications had other regions of the cortex that were very thick.
  • Both of these patterns of brain cortical thickness matched the overall head size patterns found in people with deletions or duplications.
  • This research was supported by a grant from the Simons Foundation Autism Research Initiative (SFARI).Show Less
Cereb Cortex 28, 2422-2430 (2018)
Blackmon et al.
Full Article

16p11.2 deletion
16p11.2 duplication
2018