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Please be aware that papers posted on medRxiv (pronounced med-archive) or bioRxiv (pronounced bio-archive) are not peer-reviewed or edited before online publication.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
SCN2A-developmental and epileptic encephalopathies: Challenges to trial-readiness for non-seizure outcomes
  • These researchers studied data from Simons Searchlight participants with SCN2A genetic changes. SCN2A stands for sodium voltage-gated channel alpha subunit 2, and it is needed for brain development in humans. Show More
  • Researchers used data from people registered in Simons Searchlight to understand the range of adaptive behavior in people with SCN2A genetic changes. The data were collected from the Vineland Adaptive Behavior Scale, a common survey used to measure adaptive behavior in individuals.
  • This paper includes information on 64 people with a pathogenic or likely pathogenic genetic change. The researchers summarized the medical features of people with SCN2A genetic changes and the information learned from the Vineland Adaptive Behavior Scale.
  • Importantly, the researchers stated that the Vineland is not great at detecting the ability of people with low function. The areas with lowest function in the SCN2A community were writing, functioning in the world outside the home, and performing household tasks. The researchers call the difficulty to measure low functioning areas a ‘floor effect’ and found that most areas of the survey had a floor effect for the SCN2A community.
  • The researchers suggested that future clinical trials should have measurements that can better describe the lower functioning areas to detect subtle improvements for SCN2A and other genetic communities.Show Less
Epilepsia 62, 258-268 (2020)
Berg et al.
Full Article

SCN2A
2020

Psychiatric disorders in children with 16p11.2 deletion and duplication
  • To understand the psychiatric diagnosis of people with a 16p11.2 deletion or duplication, researchers studied Simons Searchlight participants and 3 other 16p11.2 studies in Europe. Show More
  • This study included 217 children with a deletion, 114 children with a duplication, and 102 participants without a deletion or duplication.
  • Children with a 16p11.2 deletion were more likely to have ADHD, ASD, and ID than their family members without a deletion. ADHD was the most common diagnosis.
  • Children with a 16p11.2 duplication were more likely to have ADHD, oppositional defiant disorder/conduct disorder, and ID than people with a 16p11.2 deletion.
  • This was the largest study to look at psychiatric diagnoses in children with a 16p11.2 deletion or duplication.Show Less
Transl Psychiatry 9, 8 (2019)
Niarchou et al.
Full Article

16p11.2 deletion
16p11.2 duplication
2019

Altered structural brain connectivity involving the dorsal and ventral language pathways in 16p11.2 deletion syndrome
  • To understand language issues in people with a 16p11.2 deletion, researchers conducted magnetic resonance imaging (MRI) in Simons Searchlight participants to look at the region of the brain that is involved in producing and understanding language.Show More
  • Children underwent in-person language tests. This study included 21 children with a 16p11.2 deletion and 18 children without the deletion.
  • Cells that make up the brain, called neurons, have a head and a tail. The tail is called an axon and is covered with other cells that are important for protection.
  • The researchers created a new way of studying the connections of brain cells. They found a consistent increase in the space between axonal fibers and abnormal axonal quality and width, with fewer axons in that region of the brain.
  • The researchers suggested that abnormal development of this region of the 16p11.2 brain could result in issues with language.Show Less
Brain Imaging Behav 13, 430-445 (2019)
Ahtam et al.
Full Article

16p11.2 deletion
2019

Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants
  • To look at why people with the same genetic diagnosis might have very different clinical features, researchers looked to see if people with a copy number variant (CNV) had other genetic changes that could increase a person’s symptoms. A CNV happens when the number of copies of a gene region is affected, the set of genes are removed/deleted, or are extra/duplicated in a region of the DNA. 16p11.2 deletion is an example of a CNV. Show More
  • Researchers recruited people from two different research studies: Simons Searchlight and Simons Simplex Collection. Simons Simplex Collection is another research study founded by the Simons Foundation in which participants have a diagnosis of autism, and researchers are looking for a genetic cause for the autism.
  • This study included: 49 people with a 16p12.1 deletion, 53 people from the Simons Simplex Collection who have another CNV, 84 people with a 16p11.2 deletion from Simons Searchlight, 295 people from the Simons Simplex Collection who have a non-inherited genetic change in one gene that causes their neurodevelopmental condition, and 184 people from the Simons Simplex Collection who have an inherited genetic change in one gene. The publication includes an image to help outline these different groups.
  • The researchers observed that participants with a family history of the genetic change usually had more medical conditions and a higher number of other genetic variants. In addition to their main genetic finding and diagnosis, they had more genetic changes outside of the main finding, which had an additive effect. Participants with a 16p11.2 deletion that was inherited had lower IQ scores than participants with a deletion that was not inherited.
  • Participants with medical symptoms from a genetic change in one gene that was inherited also had other genetic variants, whereas a brother or sister with the inherited variant and no symptoms did not have other genetic variants.
  • The researchers suggested that even when there is a genetic diagnosis, further genetic testing should be done to understand other genetic variations that could be affecting a person’s medical management.
  • This research was supported by a grant from the Simons Foundation Autism Research Initiative (SFARI).Show Less
Genet Med 21, 816-825 (2019)
Pizzo et al.
Full Article

16p11.2 deletion
2019

Leveraging biobank-scale rare and common variant analyses to identify ASPHD1 as the main driver of reproductive traits in the 16p11.2 locus
  • The researchers studied people with a 16p11.2 deletion or duplication within Simons Searchlight, UK biobank, the Estonian Genome Center, University of Tartu biobank, and 16p11.2 European Consortium, to understand the effects of this genetic change on sexual development.Show More
  • The researchers also used mouse and fish models to study the effect of 16p11.2 deletion or duplication on reproduction.
  • The researchers found that participants with a 16p11.2 deletion or duplication had issues with reproduction, which included onset of puberty and reproductive traits.
  • Women with a 16p11.2 deletion had an earlier onset of menstruation, about 11 years old, than women with a 16p11.2 duplication, about 14 years old. Men with a 16p11.2 deletion tended to have facial hair earlier than men with a 16p11.2 duplication. Also, 1 in 3 boys with a 16p11.2 duplication had genital problems.
  • Interestingly, half of the women in the Estonian Genome Center, University of Tartu biobank study with either a 16p11.2 deletion or duplication had irregular or absent menstruation, and more than half had hormonal or ovarian dysfunction.
  • The researchers looked at the genes within the 16p11.2 region and made suggestions on what genes might be the cause of these reproductive issues.Show Less
bioRxiv Preprint, (2019)
Männik et al.
Full Article

16p11.2 deletion
16p11.2 duplication
2019

Atypical neural variability in carriers of 16p11.2 copy number variants
  • To study the details of brain cell variability, also known as neural variability, in people with a 16p11.2 deletion or duplication, researchers analyzed the electroencephalogram (EEG) of Simons Searchlight participants. An EEG measures electrical activity in the brain, and the report it creates is a series of wavy lines.Show More
  • This study included 20 people with a 16p11.2 deletion, 8 people with a 16p11.2 duplication, and 11 people without a deletion or duplication.
  • Participants with a 16p11.2 deletion had highly variable brain cell responses when shown images, and this variability was different from neurotypical people. The researchers did not find a difference, by their measures, between participants with a 16p11.2 duplication and participants without a deletion or duplication.
  • The researchers stated that it is still very difficult to understand brain cell variability by the many measurements and studies on an EEG. Further studies are needed to understand what this means for brain function and cognitive processing. Show Less
Autism Res 12, 1322-1333 (2019)
Al-Jawahiri et al.
Full Article

16p11.2 deletion
16p11.2 duplication
2019

Sensorimotor cortical oscillations during movement preparation in 16p11.2 deletion carriers
  • The researchers used magnetoencephalographic imaging (MEGI) to study people with a 16p11.2 deletion or duplication. MEGI measures the magnetic fields generated by brain activity. This technique is a non-invasive, accurate way of tracking brain activity. Show More
  • Simons Searchlight participants had MEGI during movement and speaking assessments. There were 28 children with a 16p11.2 deletion, 14 children with a 16p11.2 duplication, and 28 children without a deletion or duplication.
  • This publication shows the exact regions of the brain that are lighting up, or activating, during each of the examinations, and it includes images. The researchers compared children and adults with a 16p11.2 deletion or duplication.
  • The researchers found that participants with a 16p11.2 deletion or duplication had a reduction in fine motor skills.
  • Brain activity increased when participants with a 16p11.2 deletion pressed a button or named what was happening in a picture. This was different from participants with a duplication or participants without a deletion or duplication. The researchers suggested that extra brain cell activity leads to issues with moving the dominant hand.
  • This research was supported by a grant from the Simons Foundation Autism Research Initiative (SFARI).Show Less
J Neurosci 39, 7321-7331 (2019)
Hinkley et al.
Full Article

16p11.2 deletion
16p11.2 duplication
2019