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69 results

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Page 1
Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes.
Zhou X, Feliciano P, Shu C, Wang T, Astrovskaya I, Hall JB, Obiajulu JU, Wright JR, Murali SC, Xu SX, Brueggeman L, Thomas TR, Marchenko O, Fleisch C, Barns SD, Snyder LG, Han B, Chang TS, Turner TN, Harvey WT, Nishida A, O'Roak BJ, Geschwind DH; SPARK Consortium; Michaelson JJ, Volfovsky N, Eichler EE, Shen Y, Chung WK. Zhou X, et al. Nat Genet. 2022 Sep;54(9):1305-1319. doi: 10.1038/s41588-022-01148-2. Epub 2022 Aug 18. Nat Genet. 2022. PMID: 35982159 Free PMC article.
Developmental regression in children: Current and future directions.
Furley K, Mehra C, Goin-Kochel RP, Fahey MC, Hunter MF, Williams K, Absoud M. Furley K, et al. Among authors: goin kochel rp. Cortex. 2023 Dec;169:5-17. doi: 10.1016/j.cortex.2023.09.001. Epub 2023 Sep 27. Cortex. 2023. PMID: 37839389 Free article. Review.
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. Among authors: goin kochel rp. 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.
Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes.
Feliciano P, Zhou X, Astrovskaya I, Turner TN, Wang T, Brueggeman L, Barnard R, Hsieh A, Snyder LG, Muzny DM, Sabo A; SPARK Consortium; Gibbs RA, Eichler EE, O'Roak BJ, Michaelson JJ, Volfovsky N, Shen Y, Chung WK. Feliciano P, et al. NPJ Genom Med. 2019 Aug 23;4:19. doi: 10.1038/s41525-019-0093-8. eCollection 2019. NPJ Genom Med. 2019. PMID: 31452935 Free PMC article.
Towards a consensus on developmental regression.
Zhang D, Bedogni F, Boterberg S, Camfield C, Camfield P, Charman T, Curfs L, Einspieler C, Esposito G, De Filippis B, Goin-Kochel RP, Höglinger GU, Holzinger D, Iosif AM, Lancioni GE, Landsberger N, Laviola G, Marco EM, Müller M, Neul JL, Nielsen-Saines K, Nordahl-Hansen A, O'Reilly MF, Ozonoff S, Poustka L, Roeyers H, Rankovic M, Sigafoos J, Tammimies K, Townend GS, Zwaigenbaum L, Zweckstetter M, Bölte S, Marschik PB. Zhang D, et al. Among authors: goin kochel rp. Neurosci Biobehav Rev. 2019 Dec;107:3-5. doi: 10.1016/j.neubiorev.2019.08.014. Epub 2019 Aug 20. Neurosci Biobehav Rev. 2019. PMID: 31442516 Free article. No abstract available.
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.
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: goin kochel rp. 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.
Parent-Led Cognitive Behavioral Teletherapy for Anxiety in Autistic Youth: A Randomized Trial Comparing Two Levels of Therapist Support.
Guzick AG, Schneider SC, Kook M, Rose Iacono J, Weinzimmer SA, Quast T, Olsen SM, Hughes KR, Jellinek-Russo E, Garcia AP, Candelari A, Berry LN, Goin-Kochel RP, Goodman WK, Storch EA. Guzick AG, et al. Among authors: goin kochel rp. Behav Ther. 2024 May;55(3):499-512. doi: 10.1016/j.beth.2023.08.008. Epub 2023 Sep 6. Behav Ther. 2024. PMID: 38670664 Clinical Trial.
69 results