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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. 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. 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.
Beckwith-Wiedemann syndrome in diverse populations.
Duffy KA, Sajorda BJ, Yu AC, Hathaway ER, Grand KL, Deardorff MA, Kalish JM. Duffy KA, et al. Among authors: kalish jm. Am J Med Genet A. 2019 Apr;179(4):525-533. doi: 10.1002/ajmg.a.61053. Epub 2019 Feb 4. Am J Med Genet A. 2019. PMID: 30719840 Free PMC article.
Improved molecular detection of mosaicism in Beckwith-Wiedemann Syndrome.
Baker SW, Duffy KA, Richards-Yutz J, Deardorff MA, Kalish JM, Ganguly A. Baker SW, et al. Among authors: kalish jm. J Med Genet. 2021 Mar;58(3):178-184. doi: 10.1136/jmedgenet-2019-106498. Epub 2020 May 19. J Med Genet. 2021. PMID: 32430359 Free PMC article.
82 results