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2020 | 2 |
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Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature.
Am J Hum Genet. 2021 Jun 3;108(6):1053-1068. doi: 10.1016/j.ajhg.2021.04.008. Epub 2021 Apr 27.
Am J Hum Genet. 2021.
PMID: 33909990
Free PMC article.
Anatomy of DNA methylation signatures: Emerging insights and applications.
Chater-Diehl E, Goodman SJ, Cytrynbaum C, Turinsky AL, Choufani S, Weksberg R.
Chater-Diehl E, et al.
Am J Hum Genet. 2021 Aug 5;108(8):1359-1366. doi: 10.1016/j.ajhg.2021.06.015. Epub 2021 Jul 22.
Am J Hum Genet. 2021.
PMID: 34297908
Free PMC article.
Review.
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Epigenetic signatures in overgrowth syndromes: Translational opportunities.
Cytrynbaum C, Choufani S, Weksberg R.
Cytrynbaum C, et al.
Am J Med Genet C Semin Med Genet. 2019 Dec;181(4):491-501. doi: 10.1002/ajmg.c.31745. Epub 2019 Oct 16.
Am J Med Genet C Semin Med Genet. 2019.
PMID: 31828978
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DNA Methylation Signature for EZH2 Functionally Classifies Sequence Variants in Three PRC2 Complex Genes.
Choufani S, Gibson WT, Turinsky AL, Chung BHY, Wang T, Garg K, Vitriolo A, Cohen ASA, Cyrus S, Goodman S, Chater-Diehl E, Brzezinski J, Brudno M, Ming LH, White SM, Lynch SA, Clericuzio C, Temple IK, Flinter F, McConnell V, Cushing T, Bird LM, Splitt M, Kerr B, Scherer SW, Machado J, Imagawa E, Okamoto N, Matsumoto N, Testa G, Iascone M, Tenconi R, Caluseriu O, Mendoza-Londono R, Chitayat D, Cytrynbaum C, Tatton-Brown K, Weksberg R.
Choufani S, et al.
Am J Hum Genet. 2020 May 7;106(5):596-610. doi: 10.1016/j.ajhg.2020.03.008. Epub 2020 Apr 2.
Am J Hum Genet. 2020.
PMID: 32243864
Free PMC article.
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EpigenCentral: Portal for DNA methylation data analysis and classification in rare diseases.
Turinsky AL, Choufani S, Lu K, Liu D, Mashouri P, Min D, Weksberg R, Brudno M.
Turinsky AL, et al.
Hum Mutat. 2020 Oct;41(10):1722-1733. doi: 10.1002/humu.24076. Epub 2020 Jul 15.
Hum Mutat. 2020.
PMID: 32623772
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The utility of DNA methylation signatures in directing genome sequencing workflow: Kabuki syndrome and CDK13-related disorder.
Marwaha A, Costain G, Cytrynbaum C, Mendoza-Londono R, Chad L, Awamleh Z, Chater-Diehl E, Choufani S, Weksberg R.
Marwaha A, et al.
Am J Med Genet A. 2022 May;188(5):1368-1375. doi: 10.1002/ajmg.a.62650. Epub 2022 Jan 18.
Am J Med Genet A. 2022.
PMID: 35043535
Free PMC article.
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