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Please be aware that papers posted on medRxiv (pronounced med-archive) or bioRxiv (pronounced bio-archive) are not peer-reviewed or edited before online publication.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
Atlas of functional connectivity relationships across rare and common genetic variants, traits, and psychiatric conditions
  • Many factors can lead to a psychiatric condition, including environmental factors and genetic factors. Importantly, some people have many common genetic changes that can contribute to the development of a psychiatric condition. These genetic changes are called single nucleotide polymorphisms (SNPs). Some people have rare copy number variants (CNVs). A copy number variant (CNV) happens when there is a change in a section of DNA that results in a gene or several genes being deleted or duplicated.Show More
  • To better understand the development of psychiatric conditions, the researchers studied brain connectivity relationships between genetic risks, traits, and conditions.
  • This study included participants from four research studies or universities: Simons Searchlight, University of California, Montreal rare genomic disorder family project, and define neuropsychiatric-CNVs project. Data from Simons Searchlight included participants with 16p11.2 deletions, 16p11.2 duplications, 1q21.1 deletions, and 1q21.1 duplications. The researchers studied data from 1,003 people, with seven different CNVs that are associated with neuropsychiatric conditions and nine non-psychiatric CNVs. The study also included more than 170 people with no genetic conditions and 778 people with autism, schizophrenia, bipolar disorder, or ADHD.
  • The researchers used resting-state, functional magnetic resonance imaging (rs-fMRI) to test how regions of the brain interact with each other. rs-fMRI tracks changes in the level of oxygen in the blood as a measure of brain activity across brain areas when the person is resting.
  • The researchers found that both common and rare genetic risk factors for psychiatric conditions affected most brain connectivity networks.
  • The combination of several genes had a big impact on brain connectivity: larger deletions or duplications of a section of DNA had more of an effect on IQ and risk for the condition, whereas a set of smaller changes, known as SNPs, had smaller effects.
  • Overlaps of whole-brain function were mild to moderate across genetic risk, conditions, and traits. Functional changes leading to these similarities included overconnectivity of the thalamus and somatomotor networks. The thalamus region of the brain is needed to process the body's senses (except smell), and it plays a role in sleep, wakefulness, consciousness, learning, and memory. The somatomotor network is the region of the brain needed for motor tasks and coordination.
  • This research was supported by a grant from the Simons Foundation Autism Research Initiative (SFARI).Show Less
medRxiv Preprint, (2021)
Moreau et al.

16p11.2 deletion
16p11.2 duplication
1q21.1 deletion
1q21.1 duplication
2021

Neurodevelopmental phenotypes in individuals with pathogenic variants in CHAMP1
  • This is the first publication on CHAMP1 that includes Simons Searchlight data.Show More
  • CHAMP1 stands for chromosome alignment maintaining phosphoprotein 1, and it is important for cell repair.
  • This research included 14 people with a CHAMP1 genetic variant labeled as either pathogenic or likely pathogenic.
  • Twelve of these people are registered in Simons Searchlight.
  • Including this paper, 32 people with a CHAMP1 genetic condition have been described to date.
  • Common medical conditions in people with a CHAMP1 genetic condition include: intellectual disability, developmental delay, language issues, smaller than average head size, behavioral issues including autism, seizures, low muscle tone, gastrointestinal issues (reflux and constipation), and eye issues.
  • The two most effective antiepileptic medications for this group were divalproex sodium and levetiracetam.
  • Importantly, no individuals were found to have developmental regression.
  • This research was supported by a grant from the Simons Foundation Autism Research Initiative (SFARI).Show Less
Cold Spring Harb Mol Case Stud 7, a006092 (2021)
Garrity et al.

CHAMP1
2021

Analysis of gait synchrony and balance in neurodevelopmental disorders using computer vision techniques
  • These researchers wanted to see if video recordings of children walking could be used to study movement in people with genetic conditions. This would make it much easier for people to be assessed, as they would not need to go to a clinic or lab for testing. This would also allow children to be in their regular environment while walking.Show More
  • The researchers studied 15 children registered in Simons Searchlight with a 16p11.2 deletion or duplication, and their siblings without the condition. The researchers used computer technology to compare the two groups.
  • Children without the genetic condition were found to have better balance and walking synchrony than children with a deletion or duplication. Gait synchrony is important to study because it is needed for functional mobility, the performance of daily living tasks, and improvements in quality of life.
  • The researchers suggested that this method is low-cost and would allow us to better understand motor development, particularly motor control and smoothness of movement, in the face of environmental obstacles.Show Less
Health Informatics J 27, 14604582211055650 (2021)
Ardalan et al.

16p11.2 deletion
16p11.2 duplication
2021

Characterizing sleep problems in 16p11.2 deletion and duplication
  • Sleep disturbances are common amongst people with a neurodevelopmental condition, although sleep issues for people with 16p11.2 deletions or duplications have not been studied.Show More
  • The researchers studied the sleep patterns of 345 youth and 347 adults registered in Simons Searchlight. This included 136 people with a 16p11.2 deletion, 112 people with a 16p11.2 duplication, and 444 people with no genetic condition.
  • The most common sleep issues for a child with a 16p11.2 deletion were waking up screaming and getting out of bed. Children with a 16p11.2 duplication also had issues getting out of bed and difficulty falling asleep. Children with a deletion or duplication had higher sleep disturbance issues than participants without the genetic condition.
  • Adults with a deletion or duplication had issues falling asleep or staying asleep. The researchers found no difference in sleep disturbance between males and females.
  • The researchers also found that participants living with a person with a 16p11.2 deletion or duplication had more disturbed sleep than participants with no genetic condition. The researchers suggested that family members might have more disturbed sleep due to their loved ones having sleep issues.Show Less
J Autism Dev Disord Epub ahead of print, (2021)
Kamara et al.

16p11.2 deletion
16p11.2 duplication
2021

Cortical organoids model early brain development disrupted by 16p11.2 copy number variants in autism
  • These researchers made mini-brains to study the cell processes that are affected by a 16p11.2 deletion or duplication.Show More
  • The researchers used induced pluripotent stem cells (iPSCs) to make the mini-brains. 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 iPSCs were from Simons Searchlight participants with a 16p11.2 deletion or duplication.
  • The researchers found that 16p11.2 deletion mini-brains were larger, and that 16p11.2 duplication mini-brains were smaller. This is similar to what has been found in humans.
  • The researchers studied the genetic expression and protein profile in these mini-brains. They were able to see minor differences when the brains were ‘younger’ or earlier in development.
  • They found more brain changes when the brains were ‘older’ or later in development. These findings suggest that issues in brain development would be affected more later in human development or later in pregnancy.
  • Early in development, these brains had issues with cell migration. In the uterus, the developing fetus needs brain cells to migrate from the areas where they are born to the areas where they will settle for correct brain connections. This migration happens as early as the second month of pregnancy.
  • The researchers found that genes involved in brain cell functions and brain cell communication were affected in the 16p11.2 mini-brains. Similar results were found in mini-brains made from people with autism, as well as another Simons Searchlight genetic condition affecting the CHD8 gene.
  • This research was supported by a grant from the Simons Foundation Autism Research Initiative (SFARI).Show Less
Mol Psychiatry 26, 7560-7580 (2021)
Urresti et al.

16p11.2 deletion
16p11.2 duplication
2021

16pdel lipid changes in iPSC-derived neurons and function of FAM57B in lipid metabolism and synaptogenesis
  • These researchers studied the role of the FAM57B gene in brain development. FAM57B stands for family with sequence similarity 57, member B, and it is located in the 16p11.2 region in humans. There are about 29 genes in the 16p11.2 region. When someone has a 16p11.2 deletion, one copy of this gene is missing.Show More
  • The researchers used induced pluripotent stem cells (iPSCs) from Simons Searchlight participants with a 16p11.2 deletion. The researchers turned these iPSCs into different types of brain cells.
  • The researchers studied fats in the brain because FAM57B is thought to be important for making certain microscopic fats in the brain. Human brains are made up of mostly different kinds of fats.
  • In the lab-made 16p11.2 deletion brain cells, there were abnormal levels of many fats, and the researchers suggested that this was because there was less FAM57B in these cells.
  • The researchers used CRISPR/Cas9 to remove the FAM57B gene from a set of cells that did not have the 16p11.2 deletion. This allowed the researchers to see what happens to the level of fats when only the FAM57B gene was removed. The researchers found abnormal levels of fats in the CRISPR/Cas9 cells, similar to what they saw in the 16p11.2 deletion cells from participants. The researchers also did studies using fish models and found similar results.
  • The researchers suggested that the features they found in the lab-made brain cells that had only the FAM57B gene removed do not explain the full 16p11.2 deletion condition, and that there are other genes in the 16p11.2 region that are important for brain function.Show Less
iScience 25, 103551 (2021)
Tomasello et al.

16p11.2 deletion
2021

Psychotic symptoms in 16p11.2 copy-number variant carriers
  • Previous research suggests that people with a 16p11.2 deletion or duplication are more likely to be diagnosed with autism or psychiatric conditions like schizophrenia. Importantly, people with a 16p11.2 duplication have schizophrenia symptoms at a higher rate than people with 16p11.2 deletions.Show More
  • Youth and adult Simons Searchlight participants were evaluated using in-person assessments and surveys. The study included 109 people with a 16p11.2 duplication, 131 people with a 16p11.2 deletion, and 306 people without a genetic condition.
  • The researchers found that participants with a 16p11.2 duplication were more likely to have symptoms of psychosis, and that participants with a 16p11.2 deletion were not at an increased risk, compared with the general population. The link between a 16p11.2 duplication and psychosis symptoms was described as being associated and not causative.
  • They also found that participants with a 16p11.2 deletion or duplication were more likely to be diagnosed with obsessive compulsive disorder.
  • This research was supported by a grant from the Simons Foundation Autism Research Initiative (SFARI).Show Less
Autism Res 13, 187-198 (2020)
Jutla et al.

16p11.2 deletion
16p11.2 duplication
2020