Publications

Date Revised: February 2025

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 from newest to oldest. You can explore publications by specific genetic conditions using the categories below.

As of October 2024, Simons Searchlight has contributed to 111 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Please be aware that papers posted on medRxiv (pronounced med-archive) or bioRxiv (pronounced bio-archive) are not peer-reviewed or edited before online publication.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.

Show More
Show Less

Search

  • Filter
  • Clear All
Genetic Condition
Year of Publication
111 Publications
Detailed clinical and psychological phenotype of the X-linked HNRNPH2-related neurodevelopmental disorder
  • This is the first publication on HNRNPH2 that includes Simons Searchlight data. HNRNPH2 stands for heterogeneous nuclear ribonucleoprotein H2, and it is important for cell function and helps brain cells to make connections.Show More
  • The researchers studied people with a genetic change in HNRNPH2. With consent from the participants’ family, their information was shared with Simons Searchlight. This information was linked to information already provided by people who participate in Simons Searchlight.
  • The researchers studied 33 people with a pathogenic, or likely pathogenic, genetic change in HNRNPH2. The paper includes a large table of the participants’ medical features, as well as photos of the participants smiling.
  • Nearly half the participants had had a seizure at some point. Most children had hypotonia, difficultly coordinating, and issues with balance.
  • When children had a brain MRI, the most common findings were a change in the bundle of brain cells that connect the left and right sides of the brain, delayed development of the protective covering of brain cells, and decreased brain size in the region that controls coordination and balance.
  • Feeding and stomach issues were a concern for most children, and many parents said that their children had chronic constipation.
  • This paper has many more details on the medical findings in both males and females with genetic changes in HNRNPH2.Show Less
Neurol Genet 7, e551 (2021)
Bain et al.
Full Article

HNRNPH2
2021

Spontaneous neural activity relates to psychiatric traits in 16p11.2 CNV carriers: An analysis of EEG spectral power and multiscale entropy
  • These researchers studied electroencephalograms (EEGs) from Simons Searchlight participants to learn about resting brain activity in people with a 16p11.2 deletion or duplication. An EEG measures electrical activity in the brain. Show More
  • The researchers focused on the front region of the brain that is important for movement, language, and skills called executive functions. Executive function skills include being able to have self-control, flexible thinking, and working memory.
  • This research included 25 people with a 16p11.2 deletion, 14 people with a 16p11.2 duplication, and 14 people with none of these genetic changes.
  • The paper includes a summary table of the different altered brain functions in people with a 16p11.2 deletion or duplication from other published papers.
  • In the front region of the brain, the researchers found increased brain dynamics in participants with a 16p11.2 deletion or duplication. Participants with a 16p11.2 duplication had brain patterns that are associated with sleepiness. Participants with a 16p11.2 deletion had an association between irregular brain patterns and anxiety issues, as well as pervasive developmental issues.
  • The researchers suggested that abnormal frontal brain activity seems to strongly reflect certain psychiatric traits.Show Less
J Psychiatr Res 136, 610-618 (2021)
Al-Jawahiri et al.
Full Article

16p11.2 deletion
16p11.2 duplication
2021

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.Show Less
Proc Natl Acad Sci USA 118, e2005483118 (2021)
Li et al.
Full Article

16p11.2 deletion
2021

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.
Full Article

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.
Full Article

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.
Full Article

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.
Full Article

16p11.2 deletion
16p11.2 duplication
2021