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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Please be aware that papers posted on medRxiv (pronounced med-archive) or bioRxiv (pronounced bio-archive) are not peer-reviewed or edited before online publication.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
Exons as units of phenotypic impact for truncating mutations in autism
  • This paper focused on people from the Simons Simplex Collection, another Simons Foundation study that includes families with one child who has an autism diagnosis.Show More
  • The researchers included data from the Simons Simplex Collection from people with mutations that were likely to be gene-disrupting. These types of mutations are called nonsense, splice site, and frameshift variants, and they all block the production of a protein downstream. The researchers compared these data with the results they found in Simons Searchlight participants.
  • The researchers looked at how a person handles the common demands associated with day-to-day life, as well as participants’ motor skills, communication, coordination, and IQ levels.
  • The researchers wanted to study if it matters where a genetic change happens in a gene. For example, if the gene-disrupting mutation happens near the start of the gene or near the end of the gene, would this affect the medical features that a person has.
  • The researchers suggested that gene-disrupting mutations usually result in a mild reduction in gene expression, not a reduction by half, as would be expected.
  • They also found that when a gene-disrupting mutation was in the same part of a gene, the medical features of two unrelated people were more similar. The researchers suggested that some genetic changes are located in RNA transcripts that escape destruction by the human body. And likely gene-disrupting mutations located near each other may act similarly, as compared to mutations far away from each other in the same gene.
  • This research was supported by a grant from the Simons Foundation Autism Research Initiative (SFARI).Show Less
Mol Psychiatry 26, 1685-1695 (2016)
Chiang et al.
Full Article

ADNP
AHDC1
ANK2
ANKRD11
ARID1B
ASH1L
BCL11A
CHD2
CHD8
CIC
CTCF
CTNNB1
CUL3
DDX3X
DNMT3A
DSCAM
DYRK1A
FOXP1
GIGYF1
GRIN2B
IRF2BPL
KDM5B
KDM6B
MBD5
MED13
MED13L
NBEA
NRXN1
PHF21A
PPP2R5D
PSMD12
RIMS1
SCN2A
SETBP1
SETD2
SHANK2
SPAST
SRCAP
TANC2
TBR1
WAC
WDFY3
2016

The role of parental cognitive, behavioral, and motor profiles in clinical variability in individuals with chromosome 16p11.2 deletions
  • To help understand the feature variability found in people with the 16p11.2 deletion this study investigated 56 people with 16p11.2 deletions and their parents and siblings from Simons Searchlight.Show More
  • Researchers studied cognitive abilities, social behaviors and neuromotor performance, and found consistent differences across all these measurements in people with the 16p11.2 deletion. Although, there was a wide range on how people scored, which was related to how their family members scored.
  • This suggests that clinical outcomes should consider changes in behavioral measures based on individually defined familial scores, rather than relying only on set behavioral thresholds.
  • This study was supported in part by SFARI grants.Show Less
JAMA Psychiatry 72, 119-126 (2015)
Moreno De Luca et al.
Full Article

16p11.2 deletion
2015

The cognitive and behavioral phenotype of the 16p11.2 deletion in a clinically ascertained population
  • 85 people with 16p11.2 deletions and 153 siblings and parents in Simons Searchlight, were studied using the same list of behavioral and clinical surveys and evaluations to improve the reliability in diagnoses.Show More
  • Analyses included cognitive, adaptive, language, psychiatric, behavioral and diagnostic testing, standardized autism and psychiatric assessments performed by doctors, as well as, surveys filled out by caregivers.
  • While people with 16p11.2 deletions had a range of psychiatric and developmental features, most commonly they had issues in both spoken language (71% or 60 out of 85 people) and motor coordination (53% or 45 out of 85 people).
  • Most people carrying the deletion also showed high rates of autism-related traits including social and behavioral difficulties, yet only 24% or 20 out of 85 people received an autism diagnosis.
  • This work was supported by two SFARI grants.Show Less
Biol Psychiatry 77, 785-793 (2015)
Hanson et al.
Full Article

16p11.2 deletion
2015

Genotype-first analysis of the 16p11.2 deletion defines a new type of “autism”
  • Researchers, Michael Duyzend and Evan Eichler, further explore the findings and implications of a Simons Searchlight paper called “The cognitive and behavioral phenotype of the 16p11.2 deletion in a clinically ascertained population.” (Above)Show More
  • They stress the value of a thorough investigation of both neurodevelopmental and psychiatric features in a large number of people in Simons Searchlight allowing for quality insights into the features found in people carrying 16p11.2 deletions.
  • Importantly, they highlight that while autism-related traits are common receiving a clinical diagnosis is not common.
  • Duyzend and Eichler stress the need for more studies, with even larger numbers of people, to better understand the range of features associated with 16p11.2 deletion.Show Less
Biol Psychiatry 77, 769-771 (2015)
Duyzend et al.
Full Article

16p11.2 deletion
2015

A potential contributory role for ciliary dysfunction in the 16p11.2 600 kb BP4-BP5 pathology
  • Social attention was studied for a small group of 16p11.2 children and adult participants (12 deletion and 12 duplication, Simons Searchlight participants), people with autism spectrum disorder (ASD) with no genetic diagnosis and neurotypical people.Show More
  • Social attention was assessed using an electrical current to study brain activity, while people looked at videos of social motion (such as dancing) and non-social motion (such as a ball bouncing).
  • People with a 16p11.2 deletion or duplication had more attention on non-social motion. Neurotypical people had more attenuation to social than non-social motion. People with ASD had no difference.
  • These findings suggest that people with 16p11.2 may have deficits in social perception, but that the differences are unique from the social issues seen in individuals with ASD.
  • This research was supported by a grant from the Simons Foundation Autism Research Initiative (SFARI).Show Less
Am J Hum Genet 96, 784-796 (2015)
Migliavacca et al.
Full Article

16p11.2 deletion
2015

Abnormal auditory and language pathways in children with 16p11.2 deletion
  • 36 children with a 16p11.2 deletion and 45 non-deletion Simons Searchlight participants, underwent brain imaging to look at what brain process might be related to 16p11.2 deletion language issues.Show More
  • People with a 16p11.2 deletion had differences in brain structure, specifically changes in the brain white matter in regions associated with both hearing and language.
  • Changes in the left hemisphere language regions were related to that person’s language ability, but not overall cognitive ability.
  • This study’s findings support previous work showing similar structural brain changes was related to language impairment in people with autism.Show Less
NeuroImage: Clinical 9, 50-57 (2015)
Berman et al.
Full Article

16p11.2 deletion
2015

Modulation of mu attenuation to social stimuli in children and adults with 16p11.2 deletions and duplications
  • An electroencephalogram (EEG) was used to study social brain function. An EEG measures electrical activity in the brain, and the report it creates is a series of wavy lines. One of those wavey lines is called mu. The EEG mu wave was used to measure social brain function to help understand how social difficulties relate to how the brain works.Show More
  • Researchers studied 12 people with 16p11.2 deletions, 12 people with 16p11.2 duplications, 8 people with a behavioral diagnosis of autism, and 16 people with no other diagnoses. People with a deletion or duplication were Simons Searchlight participants.
  • Everyone in the study watched videos of people moving, a ball bouncing, and no movement. Participants were assessed by EEG while they watched the videos.
  • Participants with no diagnoses had more of a brain response to the movement of people. Participants with autism had the same mu brain wave response no matter what they were shown, whereas participants with 16p11.2 deletions or duplications had more of a response to movement of objects rather than people.
  • Participants with a 16p11.2 deletion or duplication and a diagnosis of autism had a similar mu brain wave response as participants with only a behavioral diagnosis of autism. The researchers suggested that social brain function associated with autism replaces or is stronger than the unique brain function linked to 16p11.2 deletions or duplications. People with a 16p11.2 deletion or duplication have their own way of understanding social situations that is different from people with ASD.
  • This research was supported by a grant from the Simons Foundation Autism Research Initiative (SFARI).Show Less
J Neurodev Disord 7, 25 (2015)
Hudac et al.
Full Article

16p11.2 deletion
16p11.2 duplication
2015