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Molecular characterization of HDAC8 deletions in individuals with atypical Cornelia de Lange syndrome.
Helgeson M, Keller-Ramey J, Knight Johnson A, Lee JA, Magner DB, Deml B, Deml J, Hu YY, Li Z, Donato K, Das S, Laframboise R, Tremblay S, Krantz I, Noon S, Hoganson G, Burton J, Schaaf CP, Del Gaudio D. Helgeson M, et al. Among authors: deml b. J Hum Genet. 2018 Mar;63(3):349-356. doi: 10.1038/s10038-017-0387-6. Epub 2017 Dec 26. J Hum Genet. 2018. PMID: 29279609
Variant Classification for Pompe disease; ACMG/AMP specifications from the ClinGen Lysosomal Diseases Variant Curation Expert Panel.
Goldstein JL, McGlaughon J, Kanavy D, Goomber S, Pan Y, Deml B, Donti T, Kearns L, Seifert BA, Schachter M, Son RG, Thaxton C, Udani R, Bali D, Baudet H, Caggana M, Hung C, Kyriakopoulou L, Rosenblum L, Steiner R, Pinto E Vairo F, Wang Y, Watson M, Fernandez R, Weaver M, Clarke L, Rehder C. Goldstein JL, et al. Among authors: deml b. Mol Genet Metab. 2023 Sep-Oct;140(1-2):107715. doi: 10.1016/j.ymgme.2023.107715. Epub 2023 Oct 26. Mol Genet Metab. 2023. PMID: 37907381 Free PMC article.
14 results