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Journal Abstract Search

158 related items for PubMed ID: 37120726

  • 21. DNA methylation analysis in patients with neurodevelopmental disorders improves variant interpretation and reveals complexity.
    Trajkova S, Kerkhof J, Rossi Sebastiano M, Pavinato L, Ferrero E, Giovenino C, Carli D, Di Gregorio E, Marinoni R, Mandrile G, Palermo F, Carestiato S, Cardaropoli S, Pullano V, Rinninella A, Giorgio E, Pippucci T, Dimartino P, Rzasa J, Rooney K, McConkey H, Petlichkovski A, Pasini B, Sukarova-Angelovska E, Campbell CM, Metcalfe K, Jenkinson S, Banka S, Mussa A, Ferrero GB, Sadikovic B, Brusco A.
    HGG Adv; 2024 Jul 18; 5(3):100309. PubMed ID: 38751117
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  • 22. Diagnostic Utility of Genome-Wide DNA Methylation Analysis in Mendelian Neurodevelopmental Disorders.
    Haghshenas S, Bhai P, Aref-Eshghi E, Sadikovic B.
    Int J Mol Sci; 2020 Dec 06; 21(23):. PubMed ID: 33291301
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  • 23. Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndrome.
    Bend EG, Aref-Eshghi E, Everman DB, Rogers RC, Cathey SS, Prijoles EJ, Lyons MJ, Davis H, Clarkson K, Gripp KW, Li D, Bhoj E, Zackai E, Mark P, Hakonarson H, Demmer LA, Levy MA, Kerkhof J, Stuart A, Rodenhiser D, Friez MJ, Stevenson RE, Schwartz CE, Sadikovic B.
    Clin Epigenetics; 2019 Apr 27; 11(1):64. PubMed ID: 31029150
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  • 24. Identification of a robust DNA methylation signature for Fanconi anemia.
    Pagliara D, Ciolfi A, Pedace L, Haghshenas S, Ferilli M, Levy MA, Miele E, Nardini C, Cappelletti C, Relator R, Pitisci A, De Vito R, Pizzi S, Kerkhof J, McConkey H, Nazio F, Kant SG, Di Donato M, Agolini E, Matraxia M, Pasini B, Pelle A, Galluccio T, Novelli A, Barakat TS, Andreani M, Rossi F, Mecucci C, Savoia A, Sadikovic B, Locatelli F, Tartaglia M.
    Am J Hum Genet; 2023 Nov 02; 110(11):1938-1949. PubMed ID: 37865086
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  • 32. DNA methylation signatures in mendelian developmental disorders as a diagnostic bridge between genotype and phenotype.
    Sadikovic B, Aref-Eshghi E, Levy MA, Rodenhiser D.
    Epigenomics; 2019 Apr 02; 11(5):563-575. PubMed ID: 30875234
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  • 35. Anatomy of DNA methylation signatures: Emerging insights and applications.
    Chater-Diehl E, Goodman SJ, Cytrynbaum C, Turinsky AL, Choufani S, Weksberg R.
    Am J Hum Genet; 2021 Aug 05; 108(8):1359-1366. PubMed ID: 34297908
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  • 37. Genetically unresolved case of Rauch-Steindl syndrome diagnosed by its wolf-hirschhorn associated DNA methylation episignature.
    McConkey H, White-Brown A, Kerkhof J, Dyment D, Sadikovic B.
    Front Cell Dev Biol; 2022 Aug 05; 10():1022683. PubMed ID: 36589751
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