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Publications

Date Revised: March 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 March 2025, Simons Searchlight has contributed to 117 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Please be aware that papers posted on medRxiv (pronounced med-archive) or bioRxiv (pronounced bio-archive) are not peer-reviewed or edited before online publication.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
117 Publications
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

Oligogenic effects of 16p11.2 copy-number variation on craniofacial development
  • The researchers studied the subtle facial features that people in Simons Searchlight with a 16p11.2 deletion or duplication have, comparing them with people without a genetic condition. The researchers used a computer imaging technique to find these differences and compared the differences across animal species, including rats, mice, and fish.Show More
  • They included a summary picture showing the overall facial difference (see image below).
  • Participants with deletions have opposite feature types compared with participants with duplications. The effect on the nose and chin were the most obvious–a smaller nose and chin in participants with a 16p11.2 deletion, and a more prominent nose and chin in participants with a 16p11.2 duplication.
  • This effect was found in rats and mice with a 16p11.2 deletion or duplication.
  • The researchers used fish to study which genes within the 16p11.2 region might be affecting facial development. They found that there were a few genes within the 16p11.2 region that might control the development of the face.
  • This research was supported by a grant from the Simons Foundation Autism Research Initiative (SFARI). Show Less
Cell Rep 28, 3320-3328 (2019)
Qiu et al.
Full Article

16p11.2 deletion
16p11.2 duplication
2019

Quantitative gait assessment in children with 16p11.2 syndrome
  • The researchers studied Simons Searchlight participants to understand how the 16p11.2 deletion or duplication affected their ability to walk and move around. Show More
  • This is the first research study of how people with 16p11.2 conditions move.
  • Participants with a deletion or duplication had issues with balance as well as slower walking or running abilities.
  • The researchers suggested that issues with moving around might lead to an increased rate of obesity in the community. Show Less
J Neurodev Disord 11, 26 (2019)
Goldman et al.
Full Article

16p11.2 deletion
16p11.2 duplication
2019

The human-specific BOLA2 duplication modifies iron homeostasis and anemia predisposition in chromosome 16p11.2 autism individuals
  • There are about 29 genes within the 16p11.2 copy number variant region.Show More
  • Researchers wanted to study the effect of having either more or less of the BOLA2 gene from a 16p11.2 deletion or duplication. The gene name BOLA2 stands for bolA family member 2, and this gene is involved in blood iron regulation. Iron deficiency anemia is the most common micronutrient deficiency in the world.
  • The researchers studied both Simons Searchlight participants and mice to find out if less BOLA2 results in anemia.
  • The researchers found that in humans and mice, a 16p11.2 deletion (less of BOLA2) is linked to iron deficiency anemia, and a 16p11.2 duplication (more of BOLA2) protects against anemia.
  • This research was supported by a grant from the Simons Foundation Autism Research Initiative (SFARI). Show Less
Am J Hum Genet 105, 947-958 (2019)
Giannuzzi et al.
Full Article

16p11.2 deletion
16p11.2 duplication
2019

Developmental trajectories of neuroanatomical alterations associated with the 16p11.2 copy number variations
  • To understand the timing of brain growth and changes in people with 16p11.2 deletions or duplications, researchers studied magnetic resonance imaging (MRI) scans of children and young adults in Simons Searchlight. Show More
  • There were 56 people with a deletion, 19 people with a duplication, and 105 people without a genetic condition.
  • The researchers found that participants with a 16p11.2 deletion or duplication had differences in brain development compared with participants without a genetic condition, but they did not find brain differences between ages.
  • The researchers suggested that brain changes happen early in a person’s life and persist. Differences in brain development are present as early as 5 years old in those with a 16p11.2 deletion or duplication.Show Less
NeuroImage 203, 116155 (2019)
Cárdenas-de-la-Parra et al.
Full Article

16p11.2 deletion
16p11.2 duplication
2019

Effects of eight neuropsychiatric copy number variants on human brain structure
  • These researchers used magnetic resonance imaging (MRI) to study the neurological features of people with copy number variants (CNVs): 1q21.1, 15q11.2, 16p11.2, and 22q11.2 deletions or duplications.Show More
  • This study included participants from five research studies or universities: Simons Searchlight; Cardiff University; 16p11.2 European Consortium; University of Montreal; and University of California, Los Angeles.
  • The researchers suggested that brain changes found in each CNV were opposite for the deletion and the duplication at each location. For example, the changes that were observed for a participant with a 1q21.1 deletion were the opposite of the changes observed for a participant with a 1q21.1 duplication. This was also found with 15q11.2, 16p11.2, and 22q11.2 CNVs.
  • Through mathematical and computer modeling, the researchers were able to see subtle differences in: the region that helps regulate emotion and pain; the region that controls sensory processing, motor control, risk prediction and decision-making, self-awareness, and social functions like empathy; and the region that is important for walking, balance, coordination, eye movement, and speech.
  • The researchers suggested that the brain patterns found in these different conditions could be used to help understand psychiatric conditions that are associated with these neurodevelopmental conditions.
  • This research was supported by a grant from the Simons Foundation Autism Research Initiative (SFARI).Show Less
Transl Psychiatry 11, 399 (2019)
Modenato et al.
Full Article

16p11.2 deletion
16p11.2 duplication
1q21.1 deletion
1q21.1 duplication
2019