Publications

 

Below is the list of published research papers that were made possible through the Simons Searchlight research registry. Thank you to all the families for participating in Simons Searchlight. Our long-term goal is to continue to help researchers and leading geneticists from around the world learn about you or your family’s genetic disorders.

We summarized the overall points and main findings of the research articles, although you can click on the link “Full Article” if you would like to see the original paper.

You will notice, that there are many papers that include the name, Simons Variation in Individuals Project or SimonsVIP. This is because Simons Searchlight was originally called SimonsVIP and they are one and the same research program.

We have listed the articles in order of date, from oldest to newest. Please click on the categories below to look for publications on specific genetic conditions. As of August 2022, Simons Searchlight resources have been used in 91 publications and preprints, we will continue to summarize publications as they come out. 

How to read the publication reference titles:

After the title of the article, we include other details about where the article was published and the year it was written. If there were more than 3 authors, the words “et al” are used instead of listing all the authors. “Et al” means “and others.” The name of the journal is written in shorthand.

 

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Genetic Condition
Year of Publication
26 Publications
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
Scientific Reports 8, 1274 (2018)
Demopoulos et al.
Brain MR imaging findings and associated outcomes in carriers of the reciprocal copy number variation at 16p11.2
  • To study brain structure 79 people with 16p11.2 deletions, 79 with duplications and 64 family members in Simons Searchlight, along with 109 people in the general population had brain imaging exams. Show More
  • People with 16p11.2 deletions had thicker region of the brain that connects the left and right sides of the brain (corpus callosum), abnormalities in the region that connects the brain to the spine (dens and craniocervical) and a miss position of the part of the brain involved in coordination and movement (cerebellum).
  • People with 16p11.2 duplications had a thinning of region of the brain that connects the left and right sides of the brain (corpus callosum), less nerve fibers (white matter) and larger fluid filled spaces (ventricles).
  • Participants also took behavioral and IQ tests on the same day as brain imaging, and researchers found that there was a link between the structural brain changes that was related to the issues seen in social behavior, communication skills and IQ abilities. Such as, in people with 16p11.2 deletions, the issues with the thickness of the corpus callosum was associated with problems in social function. Show Less
Radiology 286, 217-226 (2018)
Owen et al.
Incorporating Social Media into your Support Tool Box: Points to Consider from Genetics-Based Communities
  • To study privacy and membership guideline preferences for the use of social media to connect with other people with a genetic condition, 2,524 people in Simons Searchlight or GenomeConnect were invited to fill out an online survey. Show More
  • 103 people filled out the survey and it was found that Facebook was the most commonly used social media platform.
  • People said that they used social media most often to look for diagnoses or test results and to connect with other families and organizations.
  • Most people were more comfortable sharing information in private groups as opposed to a place that was available to the public.
  • Researchers used this information to develop guidelines for genetic counselors on how to talk to people about using social media platforms for gathering information and seeking support about their conditions. Show Less
Journal of Genetic Counseling 27, 470-480 (2018)
Rocha et al.
Cellular phenotypes in human iPSC-derived neurons from a genetic model of autism spectrum disorder
  • To make 16p11.2 deletion neurons (brain cells) to study, skin samples were donated from 3 people with 16p11.2 deletions and 3 with 16p11.2 duplications in Simons Searchlight. Show More
  • Induced pluripotent stem cells (iPSCs) were created from the skin cells and then turned into neurons.
  • Researchers found that the 16p11.2 deletion neuron size and shape was different from neurons with no deletion.
  • Neurons with 16p11.2 deletions were bigger and longer but 16p11.2 duplication neurons were smaller and shorter.
  • Researchers think that this might explain why people with 16p11.2 deletions have larger brain sizes and people with 16p11.2 duplications have smaller brain sizes.
  • Both 16p11.2 deletion and duplication neurons had fewer connections (synapses) between their neurons develop, which the researchers think might explain how behaviors are similar in people with 16p11.2 deletions and duplications. Show Less
Cell Reports 21, 2678-2687 (2017)
Deshpande et al.
Maternal Modifiers and Parent-of-Origin Bias of the Autism-Associated 16p11.2 CNV
  • 459 individuals from 126 families enrolled in Simons Searchlight with a 16p11.2 deletion or duplication underwent genetic analysis to see if there is a difference if inherited from the mother or father.Show More
  • 79 people with non-inherited 16p11.2 deletions or duplications had the genetic change occur on the maternally-inherited copy in most cases (9 out of 10 times).
  • This maternal tendency was not observed for 16p11.2 deletions or duplications that were inherited.
  • These finding suggest that non-inherited 16p11.2 deletions or duplications are due to an increase in genetic material swapping (recombination) during female egg cell formation.
  • Similarly, in this study, about 8 out of 10 people with other genetic deletions were found to be either non-inherited or from their mothers.
  • While more genetic deletions only mildly affected a person’s IQ, they were related to more severe overall clinical features.
  • Researchers suggest that understanding of the variation of clinical features in people with 16p11.2 requires full genetic sequencing.Show Less
American Journal of Human Genetics 98, 45-57 (2016)
Duyzend et al.
Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities
  • To gain a better understanding of the clinical features people with 16p11.2 deletions and duplications may have, researchers studied the largest group of people to date. This included 1006 people, 270 16p11.2 duplication carriers, 390 deletion carriers, and 346 relatives. Show More
  • Data was collected from three studies, 1) Simons Searchlight, 2) the 16p11.2 European Consortium and 3) the Cardiff University Experiences of Children With Copy Number Variants.
  • Results found that the frequency of ASD diagnoses and IQ issues were similar for 16p11.2 deletions and duplications.
  • However, 16p11.2 duplications exhibit a range of IQ deficits from mild to severe, while 16p11.2 deletions exhibit overall moderate IQ deficits.
  • Both deletion and duplication carriers have delays in learning to walk, yet duplication carriers are more likely to have more delays of over 2 years.
  • Finally, people with 16p11.2 duplications had a 2.5 times increase in the presence of additional deletions or duplications in other regions of their DNA. This suggests that the extra or missing pieces of other genetic information might contribute to the clinical features of people with a 16p11.2 duplication. Show Less
JAMA Psychiatry 73, 20-30 (2016)
D'Angelo et al.
Behavior and Sensory Interests Questionnaire: Validation in a sample of children with autism spectrum disorder and other developmental disability
  • To understand restricted and repetitive behaviors in children with autism and developmental disability, these researchers created the Behavior and Sensory Interests Questionnaire (BSIQ). Show More
  • Participants were recruited from three studies, 1) the Simons Simplex Collection, 2) the Boston-based Autism Consortium, and 3) Simons Searchlight.
  • This study included four groups of people to test how well this survey can understand restricted and repetitive behaviors, 1) 342 people with ASD without intellectual disability (ID), 2) 83 people with ASD and intellectual disability, 3) 113 people with ID only, and 4) 166 neurotypical people.
  • The researchers found that this survey was very useful for understanding and measuring the restricted and repetitive behaviors in the ASD and ID population, however, it is not enough to make a diagnosis of ASD on its own. Show Less
Res Dev Disabil 48, 160-175 (2016)
Hanson et al.