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Page 1
Clinical variants paired with phenotype: A rich resource for brain gene curation.
Chopra M, Savatt JM, Bingaman TI, Good ME, Morgan A, Cooney C, Rossel AM, VanHoute B, Cordova I, Mahida S, Lanzotti V, Baldridge D, Gurnett CA, Piven J, Hazlett H, Pomeroy SL, Sahin M, Payne PRO, Riggs ER, Constantino JN; Brain Gene Registry Consortium. Chopra M, et al. Among authors: pomeroy sl. Genet Med. 2024 Mar;26(3):101035. doi: 10.1016/j.gim.2023.101035. Epub 2023 Dec 4. Genet Med. 2024. PMID: 38059438 Free PMC article.
Intellectual and developmental disabilities research centers: Fifty years of scientific accomplishments.
Walkley SU, Abbeduto L, Batshaw ML, Bhattacharyya A, Bookheimer SY, Christian BT, Constantino JN, de Vellis J, Doherty DA, Nelson DL, Piven J, Poduri A, Pomeroy SL, Samaco RC, Zoghbi HY, Guralnick MJ; Intellectual and Developmental Disabilities Research Centers Directors Committee. Walkley SU, et al. Among authors: pomeroy sl. Ann Neurol. 2019 Sep;86(3):332-343. doi: 10.1002/ana.25531. Epub 2019 Jul 27. Ann Neurol. 2019. PMID: 31206741 Free PMC article. Review.
WNT signalling control by KDM5C during development affects cognition.
Karwacki-Neisius V, Jang A, Cukuroglu E, Tai A, Jiao A, Predes D, Yoon J, Brookes E, Chen J, Iberg A, Halbritter F, Õunap K, Gecz J, Schlaeger TM, Ho Sui S, Göke J, He X, Lehtinen MK, Pomeroy SL, Shi Y. Karwacki-Neisius V, et al. Among authors: pomeroy sl. Nature. 2024 Mar;627(8004):594-603. doi: 10.1038/s41586-024-07067-y. Epub 2024 Feb 21. Nature. 2024. PMID: 38383780 Free PMC article.
Developmental basis of SHH medulloblastoma heterogeneity.
Gold MP, Ong W, Masteller AM, Ghasemi DR, Galindo JA, Park NR, Huynh NC, Donde A, Pister V, Saurez RA, Vladoiu MC, Hwang GH, Eisemann T, Donovan LK, Walker AD, Benetatos J, Dufour C, Garzia L, Segal RA, Wechsler-Reya RJ, Mesirov JP, Korshunov A, Pajtler KW, Pomeroy SL, Ayrault O, Davidson SM, Cotter JA, Taylor MD, Fraenkel E. Gold MP, et al. Among authors: pomeroy sl. Nat Commun. 2024 Jan 8;15(1):270. doi: 10.1038/s41467-023-44300-0. Nat Commun. 2024. PMID: 38191555 Free PMC article.
Circular extrachromosomal DNA promotes tumor heterogeneity in high-risk medulloblastoma.
Chapman OS, Luebeck J, Sridhar S, Wong IT, Dixit D, Wang S, Prasad G, Rajkumar U, Pagadala MS, Larson JD, He BJ, Hung KL, Lange JT, Dehkordi SR, Chandran S, Adam M, Morgan L, Wani S, Tiwari A, Guccione C, Lin Y, Dutta A, Lo YY, Juarez E, Robinson JT, Korshunov A, Michaels JA, Cho YJ, Malicki DM, Coufal NG, Levy ML, Hobbs C, Scheuermann RH, Crawford JR, Pomeroy SL, Rich JN, Zhang X, Chang HY, Dixon JR, Bagchi A, Deshpande AJ, Carter H, Fraenkel E, Mischel PS, Wechsler-Reya RJ, Bafna V, Mesirov JP, Chavez L. Chapman OS, et al. Among authors: pomeroy sl. Nat Genet. 2023 Dec;55(12):2189-2199. doi: 10.1038/s41588-023-01551-3. Epub 2023 Nov 9. Nat Genet. 2023. PMID: 37945900 Free PMC article.
Global neurology: It's time to take notice.
Rutkove SB, Poduri A, Holloway RG, Pomeroy SL, McArthur JC. Rutkove SB, et al. Among authors: pomeroy sl. Ann Clin Transl Neurol. 2023 May;10(5):842-845. doi: 10.1002/acn3.51758. Epub 2023 Mar 23. Ann Clin Transl Neurol. 2023. PMID: 36950959 Free PMC article. No abstract available.
Validation of a computational phenotype for finding patients eligible for genetic testing for pathogenic PTEN variants across three centers.
Kothari C, Srivastava S, Kousa Y, Izem R, Gierdalski M, Kim D, Good A, Dies KA, Geisel G, Morizono H, Gallo V, Pomeroy SL, Garden GA, Guay-Woodford L, Sahin M, Avillach P. Kothari C, et al. Among authors: pomeroy sl. J Neurodev Disord. 2022 Mar 23;14(1):24. doi: 10.1186/s11689-022-09434-0. J Neurodev Disord. 2022. PMID: 35321655 Free PMC article.
SEQing to find hidden medulloblastoma cells.
Prensner JR, Pomeroy SL. Prensner JR, et al. Among authors: pomeroy sl. Cancer Cell. 2021 Nov 8;39(11):1452-1454. doi: 10.1016/j.ccell.2021.09.014. Epub 2021 Oct 21. Cancer Cell. 2021. PMID: 34678149 Free article.
164 results