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29 results

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Page 1
Clinical phenotype of the recurrent 1q21.1 copy-number variant.
Bernier R, Steinman KJ, Reilly B, Wallace AS, Sherr EH, Pojman N, Mefford HC, Gerdts J, Earl R, Hanson E, Goin-Kochel RP, Berry L, Kanne S, Snyder LG, Spence S, Ramocki MB, Evans DW, Spiro JE, Martin CL, Ledbetter DH, Chung WK; Simons VIP consortium. Bernier R, et al. Genet Med. 2016 Apr;18(4):341-9. doi: 10.1038/gim.2015.78. Epub 2015 Jun 11. Genet Med. 2016. PMID: 26066539 Free PMC article.
SPARK: A US Cohort of 50,000 Families to Accelerate Autism Research.
SPARK Consortium. Electronic address: pfeliciano@simonsfoundation.org; SPARK Consortium. SPARK Consortium. Electronic address: pfeliciano@simonsfoundation.org, et al. Neuron. 2018 Feb 7;97(3):488-493. doi: 10.1016/j.neuron.2018.01.015. Neuron. 2018. PMID: 29420931 Free PMC article. Review.
Development of webcam-collected and artificial-intelligence-derived social and cognitive performance measures for neurodevelopmental genetic syndromes.
Frazier TW, Busch RM, Klaas P, Lachlan K, Jeste S, Kolevzon A, Loth E, Harris J, Speer L, Pepper T, Anthony K, Graglia JM, Delagrammatikas CG, Bedrosian-Sermone S, Smith-Hicks C, Huba K, Longyear R, Green-Snyder L, Shic F, Sahin M, Eng C, Hardan AY, Uljarević M. Frazier TW, et al. Among authors: green snyder l. Am J Med Genet C Semin Med Genet. 2023 Sep;193(3):e32058. doi: 10.1002/ajmg.c.32058. Epub 2023 Aug 3. Am J Med Genet C Semin Med Genet. 2023. PMID: 37534867 Free PMC article.
Clinical Characteristics of Seizures and Epilepsy in Individuals With Recurrent Deletions and Duplications in the 16p11.2 Region.
Moufawad El Achkar C, Rosen A, Kessler SK, Steinman KJ, Spence SJ, Ramocki M, Marco EJ, Green Snyder L, Spiro JE, Chung WK, Annapurna P, Sherr EH. Moufawad El Achkar C, et al. Among authors: green snyder l. Neurol Genet. 2022 Aug 5;8(5):e200018. doi: 10.1212/NXG.0000000000200018. eCollection 2022 Oct. Neurol Genet. 2022. PMID: 36531974 Free PMC article.
Psychotic symptoms in 16p11.2 copy-number variant carriers.
Jutla A, Turner JB, Green Snyder L, Chung WK, Veenstra-VanderWeele J. Jutla A, et al. Among authors: green snyder l. Autism Res. 2020 Feb;13(2):187-198. doi: 10.1002/aur.2232. Epub 2019 Nov 14. Autism Res. 2020. PMID: 31724820
Imputing cognitive impairment in SPARK, a large autism cohort.
Shu C, Green Snyder L, Shen Y, Chung WK; SPARK Consortium. Shu C, et al. Among authors: green snyder l. Autism Res. 2022 Jan;15(1):156-170. doi: 10.1002/aur.2622. Epub 2021 Oct 11. Autism Res. 2022. PMID: 34636158
Phenotypically driven subgroups of ASD display distinct metabolomic profiles.
Prince N, Chu SH, Chen Y, Mendez KM, Hanson E, Green-Snyder L, Brooks E, Korrick S, Lasky-Su JA, Kelly RS. Prince N, et al. Among authors: green snyder l. Brain Behav Immun. 2023 Jul;111:21-29. doi: 10.1016/j.bbi.2023.03.026. Epub 2023 Mar 31. Brain Behav Immun. 2023. PMID: 37004757 Free PMC article.
Language characterization in 16p11.2 deletion and duplication syndromes.
Kim SH, Green-Snyder L, Lord C, Bishop S, Steinman KJ, Bernier R, Hanson E, Goin-Kochel RP, Chung WK. Kim SH, et al. Among authors: green snyder l. Am J Med Genet B Neuropsychiatr Genet. 2020 Sep;183(6):380-391. doi: 10.1002/ajmg.b.32809. Epub 2020 Jul 11. Am J Med Genet B Neuropsychiatr Genet. 2020. PMID: 32652891 Free PMC article.
29 results