Publications

Date Revised: January 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 April 2024, Simons Searchlight has contributed to 98 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Please be aware that papers posted on medRxiv (pronounced med-archive) or bioRxiv (pronounced bio-archive) are not peer-reviewed or edited before online publication.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
98 Publications
Absence seizures and sleep abnormalities in a rat model of GRIN2B neurodevelopmental disorder
  • Show MoreThis study looked at the role of GRIN2B-related syndrome on the sleep-wake cycle in a rat animal model.
  • 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.
  • Show LessThe researchers found that the GRIN2B rat had dysfunctional sleep patterns, and may be a potential animal model of the disorder for pre-clinical studies.
bioRxiv Preprint, (2024)
Hristova et al.
Full Article

GRIN2B
2024

Validation of a modified version of the gross motor function measure in PPPR5D-related neurodevelopmental disorder
  • Show MoreThe 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.
  • 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).
  • Show LessThe 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.
Orphanet J Rare Dis 19, 45 (2024)
Kanner et al.
Full Article

PPP2R5D
2024

SPARKing new insight into autism across the lifespan
  • Show MoreWendy 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.
  • 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.
  • Show LessThe 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.
Am J Intellect Dev Disabil 129, 91-95 (2024)
Sudnawa et al.
Full Article

All Genes
2024

Pervasive alterations of intra-axonal volume and network organization in young children with a 16p11.2 deletion
  • Show MoreThese 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.
  • 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.
  • Show LessThe 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.
Transl Psychiatry 14, 95 (2024)
Maillard et al.
Full Article

16p11.2 deletion
2024

Clinical phenotypic spectrum of CTNNB1 neurodevelopmental disorder
  • Show MoreThis is the first publication on CTNNB1 that includes Simons Searchlight collected data.
  • CTNNB1 stands for catenin beta 1, and it is important for cell-to-cell communications and cell connections.
  • This study included 32 Simons Searchlight participants with a pathogenic, or likely pathogenic, genetic change in CTNNB1. The researchers combined the Simons Searchlight data with in-person assessments. The publication includes a large table of the participants’ neurological features, and how often people with CTNNB1-related syndrome have the particular feature.
  • The most common neurological features were lower than average muscle tone of the chest, abdomen, and back; global developmental delay/intellectual disability; autism; ADHD; smaller than average head size; abnormal movement, such as cerebral palsy; flat feet; and eye issues, such as familial exudative vitreoretinopathy (FEVR) and eyes that do not align.
  • Most children with difficulty swallowing (dysphagia) as a child, and outgrew this as they got older. A tethered spinal cord was found in 1 out of 4 people.
  • Using a standardized quality-of-life assessment survey, the researchers found that overall, the quality of life was good for people with CTNNB1-related syndrome.
  • Show LessThe researchers stated that this research provides a deeper understanding for CTNNB1-related syndrome and helps to inform clinical management. Studies that include more people with CTNNB1-related syndrome are needed to assess developmental trajectories.
Clin Genet 105, 523-532 (2024)
Sudnawa et al.
Full Article

CTNNB1
2024

Health supervision for children and adolescents with 16p11.2 deletion syndrome
  • Show MoreWendy Chung, M.D., Ph.D., and Faranak Herrera, D.O., combined data collected by Simons Searchlight and Simons VIP with other scientific and clinical literature to develop this review article for the 16p11.2 deletion syndrome community.
  • This review article was designed to help care teams manage the complexities of 16p11.2 deletion syndrome and recommend health supervision strategies across the lifespan.
  • Show LessThe health supervision summary is intended for medical and educational providers, as well as families.
Cold Spring Harb Mol Case Stud 9, a006316 (2024)
Chung, Herrera, and Simons Searchlight
Full Article

16p11.2 deletion
2024

Brief report: Differences in naturalistic attention to real-world scenes in adolescents with 16p.11.2 deletion
  • Show MoreThe goal of this research was to study the specific clinical manifestations in people with a 16p11.2 deletion.
  • People with a 16p11.2 deletion have an increased rate of autism and autism-related traits.
  • The researchers did eye-tracking studies in 21 teenage and adult participants with a 16p11.2 deletion and 23 participants without a genetic condition. Participants with a 16p11.2 deletion were recruited from Simons Searchlight.
  • The researchers used a virtual reality headset to show the participants real-world scenes, with objects, people, or background scenery. The researchers created eye-tracking maps based on what the participant focused on.
  • Show LessThe researchers found that sex, IQ, and autistic traits were not good predictors of what the participant focused on. Participants with a 16p11.2 deletion had less observing across each scene and fewer fixations. The researchers suggested studying younger participants with a 16p11.2 deletion to see if a more obvious pattern would emerge.
J Autism Dev Disord 54, 1078-1087 (2024)
Haskins et al.
Full Article

16p11.2 deletion
2024