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Page 1
Comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variants.
Pinto D, Darvishi K, Shi X, Rajan D, Rigler D, Fitzgerald T, Lionel AC, Thiruvahindrapuram B, Macdonald JR, Mills R, Prasad A, Noonan K, Gribble S, Prigmore E, Donahoe PK, Smith RS, Park JH, Hurles ME, Carter NP, Lee C, Scherer SW, Feuk L. Pinto D, et al. Among authors: smith rs. Nat Biotechnol. 2011 May 8;29(6):512-20. doi: 10.1038/nbt.1852. Nat Biotechnol. 2011. PMID: 21552272 Free PMC article.
RCL1 copy number variants are associated with a range of neuropsychiatric phenotypes.
Brownstein CA, Smith RS, Rodan LH, Gorman MP, Hojlo MA, Garvey EA, Li J, Cabral K, Bowen JJ, Rao AS, Genetti CA, Carroll D, Deaso EA, Agrawal PB, Rosenfeld JA, Bi W, Howe J, Stavropoulos DJ, Hansen AW, Hamoda HM, Pinard F, Caracansi A, Walsh CA, D'Angelo EJ, Beggs AH, Zarrei M, Gibbs RA, Scherer SW, Glahn DC, Gonzalez-Heydrich J. Brownstein CA, et al. Among authors: smith rs. Mol Psychiatry. 2021 May;26(5):1706-1718. doi: 10.1038/s41380-021-01035-y. Epub 2021 Feb 17. Mol Psychiatry. 2021. PMID: 33597717 Free PMC article.
Aspm knockout ferret reveals an evolutionary mechanism governing cerebral cortical size.
Johnson MB, Sun X, Kodani A, Borges-Monroy R, Girskis KM, Ryu SC, Wang PP, Patel K, Gonzalez DM, Woo YM, Yan Z, Liang B, Smith RS, Chatterjee M, Coman D, Papademetris X, Staib LH, Hyder F, Mandeville JB, Grant PE, Im K, Kwak H, Engelhardt JF, Walsh CA, Bae BI. Johnson MB, et al. Among authors: smith rs. Nature. 2018 Apr;556(7701):370-375. doi: 10.1038/s41586-018-0035-0. Epub 2018 Apr 11. Nature. 2018. PMID: 29643508 Free PMC article.
Innovations present in the primate interneuron repertoire.
Krienen FM, Goldman M, Zhang Q, C H Del Rosario R, Florio M, Machold R, Saunders A, Levandowski K, Zaniewski H, Schuman B, Wu C, Lutservitz A, Mullally CD, Reed N, Bien E, Bortolin L, Fernandez-Otero M, Lin JD, Wysoker A, Nemesh J, Kulp D, Burns M, Tkachev V, Smith R, Walsh CA, Dimidschstein J, Rudy B, S Kean L, Berretta S, Fishell G, Feng G, McCarroll SA. Krienen FM, et al. Nature. 2020 Oct;586(7828):262-269. doi: 10.1038/s41586-020-2781-z. Epub 2020 Sep 30. Nature. 2020. PMID: 32999462 Free PMC article.
Similar Rates of Deleterious Copy Number Variants in Early-Onset Psychosis and Autism Spectrum Disorder.
Brownstein CA, Douard E, Mollon J, Smith R, Hojlo MA, Das A, Goldman M, Garvey E, Cabral K, Li J, Bowen J, Rao AS, Genetti C, Carroll D, Knowles EEM, Deaso E, Agrawal PB, Beggs AH, D'Angelo E, Almasy L, Alexander-Bloch A, Saci Z, Moreau CA, Huguet G, Deo AJ, Jacquemont S, Glahn DC, Gonzalez-Heydrich J. Brownstein CA, et al. Am J Psychiatry. 2022 Nov 1;179(11):853-861. doi: 10.1176/appi.ajp.21111175. Epub 2022 Aug 24. Am J Psychiatry. 2022. PMID: 36000218 Free PMC article.
Author Correction: Innovations present in the primate interneuron repertoire.
Krienen FM, Goldman M, Zhang Q, Del Rosario RCH, Florio M, Machold R, Saunders A, Levandowski K, Zaniewski H, Schuman B, Wu C, Lutservitz A, Mullally CD, Reed N, Bien E, Bortolin L, Fernandez-Otero M, Lin JD, Wysoker A, Nemesh J, Kulp D, Burns M, Tkachev V, Smith R, Walsh CA, Dimidschstein J, Rudy B, Kean LS, Berretta S, Fishell G, Feng G, McCarroll SA. Krienen FM, et al. Nature. 2020 Dec;588(7837):E17. doi: 10.1038/s41586-020-2874-8. Nature. 2020. PMID: 33230336
Cellular damage triggers mechano-chemical control of cell wall dynamics and patterned cell divisions in plant healing.
Di Fino LM, Anjam MS, Besten M, Mentzelopoulou A, Papadakis V, Zahid N, Baez LA, Trozzi N, Majda M, Ma X, Hamann T, Sprakel J, Moschou PN, Smith RS, Marhavý P. Di Fino LM, et al. Among authors: smith rs. Dev Cell. 2025 Jan 9:S1534-5807(24)00771-8. doi: 10.1016/j.devcel.2024.12.032. Online ahead of print. Dev Cell. 2025. PMID: 39809282 Free article.
snRNA-seq stratifies multiple sclerosis patients into distinct white matter glial responses.
Macnair W, Calini D, Agirre E, Bryois J, Jäkel S, Smith RS, Kukanja P, Stokar-Regenscheit N, Ott V, Foo LC, Collin L, Schippling S, Urich E, Nutma E, Marzin M, Ansaloni F, Amor S, Magliozzi R, Heidari E, Robinson MD, Ffrench-Constant C, Castelo-Branco G, Williams A, Malhotra D. Macnair W, et al. Among authors: smith rs. Neuron. 2024 Dec 20:S0896-6273(24)00873-0. doi: 10.1016/j.neuron.2024.11.016. Online ahead of print. Neuron. 2024. PMID: 39708806 Free article.
849 results