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Page 1
CHD8 regulates neurodevelopmental pathways associated with autism spectrum disorder in neural progenitors.
Sugathan A, Biagioli M, Golzio C, Erdin S, Blumenthal I, Manavalan P, Ragavendran A, Brand H, Lucente D, Miles J, Sheridan SD, Stortchevoi A, Kellis M, Haggarty SJ, Katsanis N, Gusella JF, Talkowski ME. Sugathan A, et al. Among authors: stortchevoi a. Proc Natl Acad Sci U S A. 2014 Oct 21;111(42):E4468-77. doi: 10.1073/pnas.1405266111. Epub 2014 Oct 7. Proc Natl Acad Sci U S A. 2014. PMID: 25294932 Free PMC article.
Transcriptional consequences of MBD5 disruption in mouse brain and CRISPR-derived neurons.
Seabra CM, Aneichyk T, Erdin S, Tai DJC, De Esch CEF, Razaz P, An Y, Manavalan P, Ragavendran A, Stortchevoi A, Abad C, Young JI, Maciel P, Talkowski ME, Gusella JF. Seabra CM, et al. Among authors: stortchevoi a. Mol Autism. 2020 Jun 5;11(1):45. doi: 10.1186/s13229-020-00354-1. Mol Autism. 2020. PMID: 32503625 Free PMC article.
A novel microduplication of ARID1B: Clinical, genetic, and proteomic findings.
Seabra CM, Szoko N, Erdin S, Ragavendran A, Stortchevoi A, Maciel P, Lundberg K, Schlatzer D, Smith J, Talkowski ME, Gusella JF, Natowicz MR. Seabra CM, et al. Among authors: stortchevoi a. Am J Med Genet A. 2017 Sep;173(9):2478-2484. doi: 10.1002/ajmg.a.38327. Epub 2017 Jul 10. Am J Med Genet A. 2017. PMID: 28691782 Free PMC article.
Tissue- and cell-type-specific molecular and functional signatures of 16p11.2 reciprocal genomic disorder across mouse brain and human neuronal models.
Tai DJC, Razaz P, Erdin S, Gao D, Wang J, Nuttle X, de Esch CE, Collins RL, Currall BB, O'Keefe K, Burt ND, Yadav R, Wang L, Mohajeri K, Aneichyk T, Ragavendran A, Stortchevoi A, Morini E, Ma W, Lucente D, Hastie A, Kelleher RJ, Perlis RH, Talkowski ME, Gusella JF. Tai DJC, et al. Among authors: stortchevoi a. Am J Hum Genet. 2022 Oct 6;109(10):1789-1813. doi: 10.1016/j.ajhg.2022.08.012. Epub 2022 Sep 23. Am J Hum Genet. 2022. PMID: 36152629 Free PMC article.
SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.
Shaw ND, Brand H, Kupchinsky ZA, Bengani H, Plummer L, Jones TI, Erdin S, Williamson KA, Rainger J, Stortchevoi A, Samocha K, Currall BB, Dunican DS, Collins RL, Willer JR, Lek A, Lek M, Nassan M, Pereira S, Kammin T, Lucente D, Silva A, Seabra CM, Chiang C, An Y, Ansari M, Rainger JK, Joss S, Smith JC, Lippincott MF, Singh SS, Patel N, Jing JW, Law JR, Ferraro N, Verloes A, Rauch A, Steindl K, Zweier M, Scheer I, Sato D, Okamoto N, Jacobsen C, Tryggestad J, Chernausek S, Schimmenti LA, Brasseur B, Cesaretti C, García-Ortiz JE, Buitrago TP, Silva OP, Hoffman JD, Mühlbauer W, Ruprecht KW, Loeys BL, Shino M, Kaindl AM, Cho CH, Morton CC, Meehan RR, van Heyningen V, Liao EC, Balasubramanian R, Hall JE, Seminara SB, Macarthur D, Moore SA, Yoshiura KI, Gusella JF, Marsh JA, Graham JM Jr, Lin AE, Katsanis N, Jones PL, Crowley WF Jr, Davis EE, FitzPatrick DR, Talkowski ME. Shaw ND, et al. Among authors: stortchevoi a. Nat Genet. 2017 Feb;49(2):238-248. doi: 10.1038/ng.3743. Epub 2017 Jan 9. Nat Genet. 2017. PMID: 28067909 Free PMC article.
Developmental regulation of neuronal gene expression by Elongator complex protein 1 dosage.
Morini E, Gao D, Logan EM, Salani M, Krauson AJ, Chekuri A, Chen YT, Ragavendran A, Chakravarty P, Erdin S, Stortchevoi A, Svejstrup JQ, Talkowski ME, Slaugenhaupt SA. Morini E, et al. Among authors: stortchevoi a. J Genet Genomics. 2022 Jul;49(7):654-665. doi: 10.1016/j.jgg.2021.11.011. Epub 2021 Dec 9. J Genet Genomics. 2022. PMID: 34896608 Free PMC article.
Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome.
Collins RL, Brand H, Redin CE, Hanscom C, Antolik C, Stone MR, Glessner JT, Mason T, Pregno G, Dorrani N, Mandrile G, Giachino D, Perrin D, Walsh C, Cipicchio M, Costello M, Stortchevoi A, An JY, Currall BB, Seabra CM, Ragavendran A, Margolin L, Martinez-Agosto JA, Lucente D, Levy B, Sanders SJ, Wapner RJ, Quintero-Rivera F, Kloosterman W, Talkowski ME. Collins RL, et al. Among authors: stortchevoi a. Genome Biol. 2017 Mar 6;18(1):36. doi: 10.1186/s13059-017-1158-6. Genome Biol. 2017. PMID: 28260531 Free PMC article.
26 results