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Clinical features of three girls with mosaic genome-wide paternal uniparental isodisomy.
Kalish JM, Conlin LK, Bhatti TR, Dubbs HA, Harris MC, Izumi K, Mostoufi-Moab S, Mulchandani S, Saitta S, States LJ, Swarr DT, Wilkens AB, Zackai EH, Zelley K, Bartolomei MS, Nichols KE, Palladino AA, Spinner NB, Deardorff MA. Kalish JM, et al. Among authors: bartolomei ms. Am J Med Genet A. 2013 Aug;161A(8):1929-39. doi: 10.1002/ajmg.a.36045. Epub 2013 Jun 26. Am J Med Genet A. 2013. PMID: 23804593 Free PMC article.
Epigenetics and imprinting in human disease.
Kalish JM, Jiang C, Bartolomei MS. Kalish JM, et al. Among authors: bartolomei ms. Int J Dev Biol. 2014;58(2-4):291-8. doi: 10.1387/ijdb.140077mb. Int J Dev Biol. 2014. PMID: 25023695 Free article. Review.
Tissue-specific and mosaic imprinting defects underlie opposite congenital growth disorders in mice.
Freschi A, Hur SK, Valente FM, Ideraabdullah FY, Sparago A, Gentile MT, Oneglia A, Di Nucci D, Colucci-D'Amato L, Thorvaldsen JL, Bartolomei MS, Riccio A, Cerrato F. Freschi A, et al. Among authors: bartolomei ms. PLoS Genet. 2018 Feb 22;14(2):e1007243. doi: 10.1371/journal.pgen.1007243. eCollection 2018 Feb. PLoS Genet. 2018. PMID: 29470501 Free PMC article.
Mapping the diploid genome, one cell at a time.
Caldwell BA, Bartolomei MS. Caldwell BA, et al. Among authors: bartolomei ms. Nat Struct Mol Biol. 2018 Nov;25(11):994-995. doi: 10.1038/s41594-018-0149-y. Nat Struct Mol Biol. 2018. PMID: 30374084 No abstract available.
197 results