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Page 1
Schizophrenia-associated somatic copy-number variants from 12,834 cases reveal recurrent NRXN1 and ABCB11 disruptions.
Maury EA, Sherman MA, Genovese G, Gilgenast TG, Kamath T, Burris SJ, Rajarajan P, Flaherty E, Akbarian S, Chess A, McCarroll SA, Loh PR, Phillips-Cremins JE, Brennand KJ, Macosko EZ, Walters JTR, O'Donovan M, Sullivan P; Psychiatric Genomic Consortium Schizophrenia and CNV workgroup; Brain Somatic Mosaicism Network; Sebat J, Lee EA, Walsh CA. Maury EA, et al. Cell Genom. 2023 Jul 6;3(8):100356. doi: 10.1016/j.xgen.2023.100356. eCollection 2023 Aug 9. Cell Genom. 2023. PMID: 37601975 Free PMC article.
Phenotypic complexities of rare heterozygous neurexin-1 deletions.
Fernando MB, Fan Y, Zhang Y, Tokolyi A, Murphy AN, Kammourh S, Michael Deans PJ, Ghorbani S, Onatzevitch R, Pero A, Padilla C, Williams S, Flaherty EK, Prytkova IA, Cao L, Knowles DA, Fang G, Slesinger PA, Brennand KJ. Fernando MB, et al. bioRxiv [Preprint]. 2024 Nov 1:2023.10.28.564543. doi: 10.1101/2023.10.28.564543. bioRxiv. 2024. Update in: Nature. 2025 Jun;642(8068):710-720. doi: 10.1038/s41586-025-08864-9. PMID: 37961635 Free PMC article. Updated. Preprint.
Dynamic convergence of autism disorder risk genes across neurodevelopment.
Garcia MF, Retallick-Townsley K, Pruitt A, Davidson E, Dai Y, Fitzpatrick SE, Sen A, Cohen S, Livoti O, Khan S, Dossou G, Cheung J, Deans PJM, Wang Z, Huckins L, Hoffman E, Brennand K. Garcia MF, et al. bioRxiv [Preprint]. 2024 Aug 24:2024.08.23.609190. doi: 10.1101/2024.08.23.609190. bioRxiv. 2024. PMID: 39229156 Free PMC article. Preprint.
Neuronal impact of patient-specific aberrant NRXN1α splicing.
Flaherty E, Zhu S, Barretto N, Cheng E, Deans PJM, Fernando MB, Schrode N, Francoeur N, Antoine A, Alganem K, Halpern M, Deikus G, Shah H, Fitzgerald M, Ladran I, Gochman P, Rapoport J, Tsankova NM, McCullumsmith R, Hoffman GE, Sebra R, Fang G, Brennand KJ. Flaherty E, et al. Nat Genet. 2019 Dec;51(12):1679-1690. doi: 10.1038/s41588-019-0539-z. Epub 2019 Nov 29. Nat Genet. 2019. PMID: 31784728 Free PMC article.
The three-dimensional landscape of cortical chromatin accessibility in Alzheimer's disease.
Bendl J, Hauberg ME, Girdhar K, Im E, Vicari JM, Rahman S, Fernando MB, Townsley KG, Dong P, Misir R, Kleopoulos SP, Reach SM, Apontes P, Zeng B, Zhang W, Voloudakis G, Brennand KJ, Nixon RA, Haroutunian V, Hoffman GE, Fullard JF, Roussos P. Bendl J, et al. Nat Neurosci. 2022 Oct;25(10):1366-1378. doi: 10.1038/s41593-022-01166-7. Epub 2022 Sep 28. Nat Neurosci. 2022. PMID: 36171428 Free PMC article.
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