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Please be aware that papers posted on medRxiv (pronounced med-archive) or bioRxiv (pronounced bio-archive) are not peer-reviewed or edited before online publication.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
16p11.2 Deletion and Duplication: Characterizing neurologic phenotypes in a large clinically ascertained cohort
  • In the largest study to date, neurologic history interviews and neurologic exams were done on 136 children with 16p11.2 deletions and 110 with duplications in Simons Searchlight. Show More
  • Researchers found that people with 16p11.2 deletions are more likely to have speech issues, slower muscle response and agility, along with larger head sizes.
  • People with 16p11.2 duplications were also more likely to have speech issues, but also more likely to have overactive muscle responses, show tremors and tics and have smaller head sizes. Show Less
Am J Med Genet 170, 2943-2955 (2016)
Steinman et al.
Full Article

16p11.2 deletion
16p11.2 duplication
2016

The number of genomic copies at the 16p11.2 locus modulates language, verbal memory, and inhibition
  • To look at how the number of the 16p11.2 DNA copies, more or less, is related to cognitive skills such as overall brain functioning, fine motor skills, language, short-term memory, and long-term memory. Show More
  • The participants for the study were from either a European research study and Simons Searchlight and included 148 16p11.2 deletion carriers, 88 16p11.2 duplication carriers, and 171 family members.
  • People with 16p11.2 deletions had a harder time with understanding sound patterns in spoken language, the definitions of words, nonword repetition tasks, short-term memory, maintaining conversation, stopping unwanted movements and fine motor abilities.
  • People with 16p11.2 duplications had better verbal long-term memory and nonword repetition tasks than people with 16p11.2 deletions or people without either a deletion or duplication.
  • There were no big differences between people with 16p11.2 deletions, duplications or their family members short-term or long-term visuospatial memory, spelling, verbal fluencies, verbal comprehension, verbal reasoning, working memory, and planning skills. Show Less
Biol Psychiatry 80(2), 129-139 (2016)
Hippolyte et al.
Full Article

16p11.2 deletion
16p11.2 duplication
2016

Autism spectrum disorder, developmental and psychiatric features in 16p11.2 duplication
  • To learn about the brain function of people with a 16p11.2 duplication, researchers studied Simons Searchlight participants.Show More
  • This paper included 62 children and 43 adults with the 16p11.2 duplication. They had their IQ tested and completed surveys to assess for autism, behavior, language, and social responsiveness.
  • Intellectually, participants with a 16p11.2 duplication were on average borderline-impaired, and several participants had moderate to severe impairment. Many were considered intellectually disabled.
  • There was a link between having an intellectual disability and having other neurodevelopmental issues, such as problems with motor, language, and social skills.
  • Many children with 16p11.2 duplications were found to have language delays and ADHD. Adults with 16p11.2 duplications had anxiety, OCD, and mood disorders.
  • Other researchers found that people with a 16p11.2 deletion have some similar clinical features to duplication carriers. They are alike in adaptive functioning (how a person can handle common demands in day-to-day life), social and behavioral issues, emotional issues, coordination issues, and the rates of autism and ADHD in childhood.
  • Overall, participants with 16p11.2 duplications had a wide range of results, according to the surveys. Not everyone with a 16p11.2 duplication had the same clinical features, and many had results that were similar to people who are in the typical range for the surveys and assessments.
  • This research was supported by a grant from the Simons Foundation Autism Research Initiative (SFARI).Show Less
J Autism Dev Disord 8, 2734-2748 (2016)
Green Snyder et al.
Full Article

16p11.2 duplication
2016

Emergence of a Homo sapiens-specific gene family and chromosome 16p11.2 CNV susceptibility
  • To study why 16p11.2 deletions or duplications occur in 1 out of 100 people with autism, researchers looked at this genetic region in Simons Searchlight participants.Show More
  • Chromosome 16p11.2 stands for the short arm of chromosome 16, region 1, band number 1, sub-band 2.
  • The typical 16p11.2 genetic region has 29 genes. There are two BOLA2 genes, one on both ends of the common breakpoint section (see image below).
  • This study included 152 people with a 16p11.2 deletion or duplication.
  • In the typical 16p11.2 region, humans have two BOLA2 genes, but other animals related to humans do not.
  • The gene name BOLA2 stands for bolA family member 2, and this gene is involved in blood iron regulation.
  • The researchers found that the majority of participants, more than 96 percent, with a 16p11.2 deletion or duplication had the copy number variation happen between the two BOLA2 genes.
  • Using genetic mapping techniques and evolutionary studies, the researchers created a map of how this region went from having only one BOLA2 gene in an ancestor to two BOLA2 genes in modern humans.
  • This research was supported by a grant from the Simons Foundation Autism Research Initiative (SFARI).Show Less
Nature 536, 205-209 (2016)
Nuttle et al.
Full Article

16p11.2 deletion
16p11.2 duplication
2016

Deletion and duplication of 16p11.2 are associated with opposing effects on visual evoked potential amplitude
  • To study visual evoked potentials, researchers show images to a person and record their brain activity on an electroencephalogram (EEG). An EEG measures electrical activity in the brain, and the report it creates is a series of wavy lines. Wave patterns on the EEG were studied in Simons Searchlight participants with 16p11.2 deletions and duplications. These wave forms were compared with the wave forms from people with no developmental conditions.Show More
  • Children ages 3 to 14 were included in this study. Data were analyzed for 19 people with a 16p11.2 deletion, 9 people with a 16p11.2 duplication, and 13 people without a developmental condition.
  • Wave forms for participants with a 16p11.2 deletion were larger and similar in shape. Participants with a 16p11.2 duplication had smaller waves that were more irregular.
  • The researchers did not make conclusions about what these wave forms might mean. However, they suggested that this highlights a difference in brain functioning in people who carry the deletion and duplication.
  • This research was supported by a grant from the Simons Foundation Autism Research Initiative (SFARI).Show Less
Mol Autism 7, 30 (2016)
LeBlanc and Nelson
Full Article

16p11.2 deletion
16p11.2 duplication
2016

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