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2010 2
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139 results

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Page 1
Genomic architecture of autism from comprehensive whole-genome sequence annotation.
Trost B, Thiruvahindrapuram B, Chan AJS, Engchuan W, Higginbotham EJ, Howe JL, Loureiro LO, Reuter MS, Roshandel D, Whitney J, Zarrei M, Bookman M, Somerville C, Shaath R, Abdi M, Aliyev E, Patel RV, Nalpathamkalam T, Pellecchia G, Hamdan O, Kaur G, Wang Z, MacDonald JR, Wei J, Sung WWL, Lamoureux S, Hoang N, Selvanayagam T, Deflaux N, Geng M, Ghaffari S, Bates J, Young EJ, Ding Q, Shum C, D'Abate L, Bradley CA, Rutherford A, Aguda V, Apresto B, Chen N, Desai S, Du X, Fong MLY, Pullenayegum S, Samler K, Wang T, Ho K, Paton T, Pereira SL, Herbrick JA, Wintle RF, Fuerth J, Noppornpitak J, Ward H, Magee P, Al Baz A, Kajendirarajah U, Kapadia S, Vlasblom J, Valluri M, Green J, Seifer V, Quirbach M, Rennie O, Kelley E, Masjedi N, Lord C, Szego MJ, Zawati MH, Lang M, Strug LJ, Marshall CR, Costain G, Calli K, Iaboni A, Yusuf A, Ambrozewicz P, Gallagher L, Amaral DG, Brian J, Elsabbagh M, Georgiades S, Messinger DS, Ozonoff S, Sebat J, Sjaarda C, Smith IM, Szatmari P, Zwaigenbaum L, Kushki A, Frazier TW, Vorstman JAS, Fakhro KA, Fernandez BA, Lewis MES, Weksberg R, Fiume M, Yuen RKC, Anagnostou E, Sondheimer N, Glazer D, Hartley DM, Scherer SW. Trost B, et al. Cell. 2022 Nov 10;185(23):4409-4427.e18. doi: 10.1016/j.cell.2022.10.009. Cell. 2022. PMID: 36368308 Free PMC article.
Examining a wide variety of genetic variants in MSSNG and the Simons Simplex Collection (SSC; n = 9,205), we identified ASD-associated rare variants in 718/5,100 individuals with ASD from MSSNG (14.1%) and 350/2,419 from SSC (14.5%). ...
Examining a wide variety of genetic variants in MSSNG and the Simons Simplex Collection (SSC; n = 9,205), we identified …
Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci.
Sanders SJ, He X, Willsey AJ, Ercan-Sencicek AG, Samocha KE, Cicek AE, Murtha MT, Bal VH, Bishop SL, Dong S, Goldberg AP, Jinlu C, Keaney JF 3rd, Klei L, Mandell JD, Moreno-De-Luca D, Poultney CS, Robinson EB, Smith L, Solli-Nowlan T, Su MY, Teran NA, Walker MF, Werling DM, Beaudet AL, Cantor RM, Fombonne E, Geschwind DH, Grice DE, Lord C, Lowe JK, Mane SM, Martin DM, Morrow EM, Talkowski ME, Sutcliffe JS, Walsh CA, Yu TW; Autism Sequencing Consortium; Ledbetter DH, Martin CL, Cook EH, Buxbaum JD, Daly MJ, Devlin B, Roeder K, State MW. Sanders SJ, et al. Neuron. 2015 Sep 23;87(6):1215-1233. doi: 10.1016/j.neuron.2015.09.016. Neuron. 2015. PMID: 26402605 Free PMC article.
Analysis of de novo CNVs (dnCNVs) from the full Simons Simplex Collection (SSC) (N = 2,591 families) replicates prior findings of strong association with autism spectrum disorders (ASDs) and confirms six risk loci (1q21.1, 3q29, 7q11.23, 16p11.2, 15q11.2-13, …
Analysis of de novo CNVs (dnCNVs) from the full Simons Simplex Collection (SSC) (N = 2,591 families) replicates prior f …
Psychometric Properties of the Simons Simplex Collection Sleep Interview.
Johansson AEE, Rohay JM, Chasens ER. Johansson AEE, et al. J Nurs Meas. 2018 Dec;26(3):453-469. doi: 10.1891/1061-3749.26.3.453. J Nurs Meas. 2018. PMID: 30593572
BACKGROUND AND PURPOSE: An estimated 40%-80% of children with autism spectrum disorders (ASD) have sleep problems. The Simons Simplex Collection Sleep Interview (SSCSI) is a parent-report questionnaire assessing bedtime and nighttime sleep problems and daytim …
BACKGROUND AND PURPOSE: An estimated 40%-80% of children with autism spectrum disorders (ASD) have sleep problems. The Simons Simp …
Machine Learning Prediction of Autism Spectrum Disorder From a Minimal Set of Medical and Background Information.
Rajagopalan SS, Zhang Y, Yahia A, Tammimies K. Rajagopalan SS, et al. JAMA Netw Open. 2024 Aug 1;7(8):e2429229. doi: 10.1001/jamanetworkopen.2024.29229. JAMA Netw Open. 2024. PMID: 39158907 Free PMC article.
The model performance was validated on independent datasets from SPARK, version 10 (released July 21, 2023), and the Simons Simplex Collection (SSC), consisting of 14 790 participants, followed by phenotypic associations. ...
The model performance was validated on independent datasets from SPARK, version 10 (released July 21, 2023), and the Simons Simple …
Chromosome X-wide common variant association study in autism spectrum disorder.
Mendes M, Chen DZ, Engchuan W, Leal TP, Thiruvahindrapuram B, Trost B, Howe JL, Pellecchia G, Nalpathamkalam T, Alexandrova R, Salazar NB, McKee EA, Rivera-Alfaro N, Lai MC, Bandres-Ciga S, Roshandel D, Bradley CA, Anagnostou E, Sun L, Scherer SW. Mendes M, et al. Am J Hum Genet. 2025 Jan 2;112(1):135-153. doi: 10.1016/j.ajhg.2024.11.008. Epub 2024 Dec 19. Am J Hum Genet. 2025. PMID: 39706197 Free PMC article.
Here, we conducted an X-chromosome-wide association study (XWAS) using whole-genome sequencing data from 6,873 individuals with ASD (82% males) across Autism Speaks MSSNG, Simons Simplex Collection (SSC), and Simons Powering Autism Research (SPARK), alongside …
Here, we conducted an X-chromosome-wide association study (XWAS) using whole-genome sequencing data from 6,873 individuals with ASD (82% mal …
Children with autism spectrum disorder who improve with fever: Insights from the Simons Simplex Collection.
Grzadzinski R, Lord C, Sanders SJ, Werling D, Bal VH. Grzadzinski R, et al. Autism Res. 2018 Jan;11(1):175-184. doi: 10.1002/aur.1856. Epub 2017 Aug 31. Autism Res. 2018. PMID: 28861935
This study aims to (a) investigate the subset of children who show parent-reported behavioral improvements associated with fever and (b) compare the demographic, behavioral, and genetic characteristics of this subset of children to children whose parents report no change during f …
This study aims to (a) investigate the subset of children who show parent-reported behavioral improvements associated with fever and (b) com …
The Simons Simplex Collection: a resource for identification of autism genetic risk factors.
Fischbach GD, Lord C. Fischbach GD, et al. Neuron. 2010 Oct 21;68(2):192-5. doi: 10.1016/j.neuron.2010.10.006. Neuron. 2010. PMID: 20955926 Free article.
In an effort to identify de novo genetic variants that contribute to the overall risk of autism, the Simons Foundation Autism Research Initiative (SFARI) has gathered a unique sample called the Simons Simplex Collection (SSC). More than 2000 families have bee …
In an effort to identify de novo genetic variants that contribute to the overall risk of autism, the Simons Foundation Autism Research Initi …
Replication of Standardized ADOS Domain Scores in the Simons Simplex Collection.
Hus Bal V, Lord C. Hus Bal V, et al. Autism Res. 2015 Oct;8(5):583-92. doi: 10.1002/aur.1474. Epub 2015 Feb 24. Autism Res. 2015. PMID: 25712123 Free PMC article.
Using a sample of 2,509 probands with ASD from the Simons Simplex Collection (SSC), this study provides the first replication of the ADOS domain CSS in an independent sample. ...
Using a sample of 2,509 probands with ASD from the Simons Simplex Collection (SSC), this study provides the first repli …
Expression of the broad autism phenotype in simplex autism families from the Simons Simplex Collection.
Davidson J, Goin-Kochel RP, Green-Snyder LA, Hundley RJ, Warren Z, Peters SU. Davidson J, et al. J Autism Dev Disord. 2014 Oct;44(10):2392-9. doi: 10.1007/s10803-012-1492-1. J Autism Dev Disord. 2014. PMID: 22382605
This study examined the relationship among the Broad Autism Phenotype Questionnaire (BAPQ), Social Responsiveness Scale: Adult Research Version (SRS:ARV), and Family History Interview (FHI) in a large, multi-site study of 1,650 simplex families (Simons Simplex Co …
This study examined the relationship among the Broad Autism Phenotype Questionnaire (BAPQ), Social Responsiveness Scale: Adult Research Vers …
Behavioral and cognitive characteristics of females and males with autism in the Simons Simplex Collection.
Frazier TW, Georgiades S, Bishop SL, Hardan AY. Frazier TW, et al. J Am Acad Child Adolesc Psychiatry. 2014 Mar;53(3):329-40.e1-3. doi: 10.1016/j.jaac.2013.12.004. Epub 2013 Dec 24. J Am Acad Child Adolesc Psychiatry. 2014. PMID: 24565360 Free PMC article.
METHOD: We analyzed data from 2,418 probands with autism (304 females and 2,114 males) included in the Simons Simplex Collection. Sex differences were evaluated across measures of autism symptoms, cognitive and motor functioning, adaptive behavior, and associ …
METHOD: We analyzed data from 2,418 probands with autism (304 females and 2,114 males) included in the Simons Simplex Colle …
139 results