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Publications

Date Revised: September 2026

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 September 2026, Simons Searchlight has contributed to 144 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Please be aware that papers posted on medRxiv (pronounced med-archive) or bioRxiv (pronounced bio-archive) are not peer-reviewed or edited before online publication.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
144 Publications
Pervasive alterations of intra-axonal volume and network organization in young children with a 16p11.2 deletion
  • These researchers used a special technique to analyze (MRI) images of the brains of children with 16p11.2 deletions to better understand the intricacies of the sub-brain connections and structures. Show More
  • This study included the following Simons Searchlight participants: 12 children, ages 2 to 6 years old, with a 16p11.2 deletion, and 6 children without the deletion. This study also included 60 children without the deletion from Service des Troubles du Spectre de l’Autisme (STSA).
  • The researchers found that there were differences in the development of the white matter of the brain in children with 16p11.2 deletions. Children with a 16p11.2 deletion also had a larger increase in the volume of the long fiber of a brain cell called an axon. The researchers suggested that these differences could lead to changes in brain network organization.
  • The researchers also suggested that the brain differences might affect language, nerve-motor signaling, and socio-emotional behavior functional networks. More research is needed to understand if the differences seen in this study directly affect the brain’s functional networks, or if the effects are indirect. Show Less
Transl Psychiatry 14, 95 (2024)
Maillard et al.
Full Article

16p11.2 deletion
2024

SPARKing new insight into autism across the lifespan
  • Wendy Chung, M.D., Ph.D., and Khemika Sudnawa, M.D., wrote this article on the importance of Simons Searchlight for the American Journal on Intellectual and Developmental Disabilities. Show More
  • The article discusses the importance of participation for providing a deeper understanding of Simons Searchlight conditions, including insights into the clinical course of conditions and associated medical features. All of this information is deeply important for planning future clinical trials.
  • The researchers also discussed the importance of early diagnosis, potentially through newborn screening, for capturing the true incidence in the population and for better understanding these conditions. Show Less
Am J Intellect Dev Disabil 129, 91-95 (2024)
Sudnawa et al.
Full Article

All Genes
2024

Validation of a modified version of the gross motor function measure in PPPR5D-related neurodevelopmental disorder
  • The researchers aimed to validate the gross motor function measure (GMFM) for people with PPP2R5D-related syndrome. Validation of the GMFM in this community can help to support the development of outcomes for clinical trials. Show More
  • This study included genetic, medical, developmental, and mobility data from PPP2R5D Simons Searchlight families, as well as in-person assessment data from a 2022 family conference. Participants included 38 people with PPP2R5D-related syndrome between the ages of 1 and 27.
  • The researchers used several other assessments to analyze the movement and daily activity abilities of people with PPP2R5D-related syndrome.
  • The majority of people in the study were able to get around in their environment on their own without an assistive device (21 out of 38 people).
  • The researchers suggested that the GMFM was an appropriate evaluation for children and adults with PPP2R5D-related syndrome because it can assess a wide range of abilities in the population. Show Less
Orphanet J Rare Dis 19, 45 (2024)
Kanner et al.
Full Article

PPP2R5D
2024

Absence seizures and sleep abnormalities in a rat model of GRIN2B neurodevelopmental disorder
  • This study looked at the role of GRIN2B-related syndrome on the sleep-wake cycle in a rat animal model. Show More
  • The researchers did not use Simons Searchlight data in their analysis, but they referenced learnings from a 2021 Simons Searchlight registry report on sleep for the GRIN2B community. The researchers cite the report as important background information on sleep in people with GRIN2B-related syndrome. Sleep is often dysfunctional, and many people struggle with falling and staying asleep, and have breathing irregularities during sleep.
  • The researchers found that the GRIN2B rat had dysfunctional sleep patterns, and may be a potential animal model of the disorder for pre-clinical studies. Show Less
bioRxiv Preprint, (2024)
Hristova et al.
Full Article

GRIN2B
2024

Beyond the diagnosis: Evaluation of quality-of-life measures and family functioning in SLC6A1 related neurodevelopmental disorder
  • The researchers studied parent-reported quality of life (QOL) measures to determine a baseline for quality of life in preparation for a future clinical trial. Creating a baseline, or starting point, for quality of life is important when there are clinical trials that improve the quality of life of the person and their family. Show More
  • Simons Searchlight quality of life data from 32 participants was used in combination with the authors’ clinical trial readiness study quality of life data from 20 participants. These data were used to characterize the QOL for the SLC6A1-related neurodevelopmental disorder (SLC6A1-NDD) community. This is the first study to define the QOL for people with SLC6A1-NDD and their families.
  • The researchers used different surveys to capture QOL: 1) Quality of Life Inventory-Disability, a survey that is well studied for people with intellectual disability; 2) PedsQL Family Impact Module, a survey that aims to determine the effect of the person’s diagnosis on the family; and 3) Quality of Life Childhood Epilepsy survey, which is used to determine the effect of epilepsy on people experiencing seizures and intellectual disability.
  • The researchers found that in general, the total scores for Quality of Life Inventory-Disability were higher than PedsQL Family Impact Module scores and Quality of Life Childhood Epilepsy survey scores. Higher scores indicated a higher QOL. The lowest domains within the QOL surveys were Physical Ability and Negative Emotions, and the highest domains were Social and Positive Emotions.
  • The researchers were careful in their interpretations of these results, as stronger conclusions will require studying more individuals. The researchers think that they have generated QOL reference ranges for people with SLC61A-NDD. Show Less
Pediatr Neurol 155, 160-166 (2024)
Dahshi et al.
Full Article

SLC6A1
2024

Improvement of variant reclassification in genetic neurodevelopmental conditions
  • When a person receives genetic testing, the medical community has to interpret the genetic variants found. This interpretation includes a ranking of whether the variant causes an issue for the person, from problematic to not problematic. This includes the following categories: Pathogenic, Likely Pathogenic, Variant of Uncertain Significance (VUS), Likely Benign, and Benign. A VUS is not a genetic diagnosis, but it indicates that a variant needs more information to determine a genetic diagnosis. Show More
  • This research article reviews genetic variant reinterpretation for all the variants in Simons Searchlight up to December 2022. To our knowledge, this is the only international research registry of its kind that is performing a detailed review of genetic laboratory results across genetic neurodevelopmental conditions. In this study, Simons Searchlight found that in general, genetic variants are more often upgraded to likely pathogenic or pathogenic.
  • Some of the reasons we would like to highlight how a VUS was upgraded to likely pathogenic or pathogenic within our database are: 1) the variant was not found in either parent (this helped in reclassification of 32.3 percent of participants); 2) Simons Searchlight collects genetic testing reports internationally (this led to 18.0 percent of upgrades due to rare variants being submitted multiple times to the registry).
  • We looked at self-reported race/ethnicity information and our data suggested that White participants submitted VUS at a lower frequency than participants of other races and ethnicities. In addition, participants of other races and ethnicities were less likely to have a VUS that was reclassified. Because fewer people of color are included in the genetic sequencing data, it is difficult for the genetics community to interpret variants.
  • A comparison between ClinVar, another international genetic database, and Simons Searchlight VUS reclassifications for SCN2A, SLC6A1, and STXBP1 demonstrated that Simons Searchlight reclassifies variants at a significantly higher rate than those variants submitted to ClinVar alone. Show Less
GIM Open 2, 101845 (2024)
Kowanda et al.
Full Article

All Genes
2024

Association of behavioural and social–communicative profiles in children with 16p11.2 copy number variants: A multi-site study
  • In this study, the researchers aimed to identify the differences and associations of behavioural and social–communicative features of children with 16p11.2 deletion syndrome and 16p11.2 duplication. Show More
  • The researchers studied Simons Searchlight participants: 23 with 16p11.2 deletion and 10 with 16p11.2 duplication. They also studied participants from the Netherlands: 24 with 16p11.2 deletion and 11 with 16p11.2 duplication.
  • The researchers found that people with 16p11.2 deletion and 16p11.2 duplication had similar scores on the Full-Scale Intelligence Quotient (FSIQ), which is a scale for a person’s cognitive capacity. They found that FSIQ scores were lower than average for these participants, but the researchers suggested that because the group of people were identified by clinical symptoms, this might skew the FSIQ scores.
  • Participants with 16p11.2 deletion had behavior issues 52 percent of the time. Participants who were 16p11.2 duplication carriers had behavior issues 89 percent of the time. Not all people with 16p11.2 deletion or duplication met the criteria for an autism diagnosis, but almost everyone had features of autism, and most people had delayed speech and language milestones that required speech therapy. Difficulty with the use of context in communication was observed in 93 percent of 16p11.2 duplication carriers and 77 percent of 16p11.2 deletion carriers.
  • Participants with a 16p11.2 duplication had more issues with social responsiveness, such as more difficulty with interpersonal activities and stereotypic behaviors related to autism. Withdrawn and depressed behaviors were more often reported for people with 16p11.2 deletion. Show Less
J Intellect Disabil Res Epub ahead of print, (2024)
Verbesselt et al.
Full Article

16p11.2 deletion
16p11.2 duplication
2024