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Year Number of Results
2004 1
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2009 5
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2023 8
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Page 1
Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders.
Gracia-Diaz C, Zhou Y, Yang Q, Maroofian R, Espana-Bonilla P, Lee CH, Zhang S, Padilla N, Fueyo R, Waxman EA, Lei S, Otrimski G, Li D, Sheppard SE, Mark P, Harr MH, Hakonarson H, Rodan L, Jackson A, Vasudevan P, Powel C, Mohammed S, Maddirevula S, Alzaidan H, Faqeih EA, Efthymiou S, Turchetti V, Rahman F, Maqbool S, Salpietro V, Ibrahim SH, di Rosa G, Houlden H, Alharbi MN, Al-Sannaa NA, Bauer P, Zifarelli G, Estaras C, Hurst ACE, Thompson ML, Chassevent A, Smith-Hicks CL, de la Cruz X, Holtz AM, Elloumi HZ, Hajianpour MJ, Rieubland C, Braun D, Banka S; Genomic England Research Consortium; French DL, Heller EA, Saade M, Song H, Ming GL, Alkuraya FS, Agrawal PB, Reinberg D, Bhoj EJ, Martínez-Balbás MA, Akizu N. Gracia-Diaz C, et al. Among authors: waxman ea. Nat Commun. 2023 Jul 11;14(1):4109. doi: 10.1038/s41467-023-39645-5. Nat Commun. 2023. PMID: 37433783 Free PMC article.
Drug screening identifies tazarotene and bexarotene as therapeutic agents in multiple sulfatase deficiency.
Schlotawa L, Tyka K, Kettwig M, Ahrens-Nicklas RC, Baud M, Berulava T, Brunetti-Pierri N, Gagne A, Herbst ZM, Maguire JA, Monfregola J, Pena T, Radhakrishnan K, Schröder S, Waxman EA, Ballabio A, Dierks T, Fischer A, French DL, Gelb MH, Gärtner J. Schlotawa L, et al. Among authors: waxman ea. EMBO Mol Med. 2023 Mar 8;15(3):e14837. doi: 10.15252/emmm.202114837. Epub 2023 Feb 15. EMBO Mol Med. 2023. PMID: 36789546 Free PMC article.
Molecular mechanisms of alpha-synuclein neurodegeneration.
Waxman EA, Giasson BI. Waxman EA, et al. Biochim Biophys Acta. 2009 Jul;1792(7):616-24. doi: 10.1016/j.bbadis.2008.09.013. Epub 2008 Oct 9. Biochim Biophys Acta. 2009. PMID: 18955133 Free PMC article. Review.
Cross-site reproducibility of human cortical organoids reveals consistent cell type composition and architecture.
Glass MR, Waxman EA, Yamashita S, Lafferty M, Beltran A, Farah T, Patel NK, Matoba N, Ahmed S, Srivastava M, Drake E, Davis LT, Yeturi M, Sun K, Love MI, Hashimoto-Torii K, French DL, Stein JL. Glass MR, et al. Among authors: waxman ea. bioRxiv [Preprint]. 2023 Jul 29:2023.07.28.550873. doi: 10.1101/2023.07.28.550873. bioRxiv. 2023. PMID: 37546772 Free PMC article. Preprint.
Generation of a human Tropomyosin 1 knockout iPSC line.
Wilken MB, Maguire JA, Dungan LV, Gagne A, Osorio-Quintero C, Waxman EA, Chou ST, Gadue P, French DL, Thom CS. Wilken MB, et al. Among authors: waxman ea. Stem Cell Res. 2023 Sep;71:103161. doi: 10.1016/j.scr.2023.103161. Epub 2023 Jun 28. Stem Cell Res. 2023. PMID: 37422949 Free PMC article.
A novel iPSC model reveals selective vulnerability of neurons in multiple sulfatase deficiency.
Pham V, Sertori Finoti L, Cassidy MM, Maguire JA, Gagne AL, Waxman EA, French DL, King K, Zhou Z, Gelb MH, Wongkittichote P, Hong X, Schlotawa L, Davidson BL, Ahrens-Nicklas RC. Pham V, et al. Among authors: waxman ea. Mol Genet Metab. 2024 Feb;141(2):108116. doi: 10.1016/j.ymgme.2023.108116. Epub 2023 Dec 21. Mol Genet Metab. 2024. PMID: 38161139
Rigor and reproducibility in human brain organoid research: Where we are and where we need to go.
Sandoval SO, Cappuccio G, Kruth K, Osenberg S, Khalil SM, Méndez-Albelo NM, Padmanabhan K, Wang D, Niciu MJ, Bhattacharyya A, Stein JL, Sousa AMM, Waxman EA, Buttermore ED, Whye D, Sirois CL; Cross-IDDRC Human Stem Cell Consortium; Williams A, Maletic-Savatic M, Zhao X. Sandoval SO, et al. Among authors: waxman ea. Stem Cell Reports. 2024 Jun 11;19(6):796-816. doi: 10.1016/j.stemcr.2024.04.008. Epub 2024 May 16. Stem Cell Reports. 2024. PMID: 38759644 Free article. Review.
25 results