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Please be aware that papers posted on medRxiv (pronounced med-archive) or bioRxiv (pronounced bio-archive) are not peer-reviewed or edited before online publication.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
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

Availability of services and caregiver burden: Supporting individuals with neurogenetic conditions during the COVID-19 pandemic
  • This paper described the effect of the COVID-19 pandemic on the services, therapies, and medical needs of individuals with neurodevelopmental conditions, as well as the burden on caregivers.Show More
  • Simons Searchlight sent surveys regularly from April 2020 to July 2022 to caregivers asking about how they were managing the COVID-19 pandemic.
  • Simons Searchlight caregivers completed online surveys, and the researchers studied two time points: April 2020 and May 2020.
  • There were 301 caregivers who completed both survey 1 and survey 2, living in 28 different countries around the world, and representing 60 different Simons Searchlight genetic conditions.
  • Caregivers reported that the COVID-19 pandemic considerably disrupted services, therapies, or medical supports, and now, the majority of caregivers were responsible for providing some therapy.
  • On average, caregivers said they were “feeling stressed but able to deal with problems as they arise.” However, they said that telehealth services were not meeting the needs of those with complex medical needs.
  • In survey 2, caregivers had a lower anxiety rating than in survey 1.Show Less
J Child Neurol 36, 760-767 (2019)
Kowanda et al.
Full Article

All Genes
2019

Abnormal speech motor control in individuals with 16p11.2 deletions
  • 12 people with 16p11.2 deletions and 6 of their siblings at a 2015 Simons Searchlight family conference underwent behavioral speech and hearing assessments. Show More
  • Results showed that people with 16p11.2 deletions had an exaggerated response to sound changes. Their tests showed that they were not as able to learn from hearing sounds or they were not as able to adjust to other people’s speech sound changes. Even though they had no problems with hearing sounds.
  • These researchers think that this issue with interpreting sound feedback and difficulty with adapting to sounds may explain some of the reason there is a high rate of speech and language problems in people with 16p11.2 deletions. Show Less
Sci Rep 8, 1274 (2018)
Demopoulos et al.
Full Article

16p11.2 deletion
2018