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Exome analysis of Smith-Magenis-like syndrome cohort identifies de novo likely pathogenic variants.
Berger SI, Ciccone C, Simon KL, Malicdan MC, Vilboux T, Billington C, Fischer R, Introne WJ, Gropman A, Blancato JK, Mullikin JC; NISC Comparative Sequencing Program; Gahl WA, Huizing M, Smith ACM. Berger SI, et al. Among authors: blancato jk. Hum Genet. 2017 Apr;136(4):409-420. doi: 10.1007/s00439-017-1767-x. Epub 2017 Feb 17. Hum Genet. 2017. PMID: 28213671 Free PMC article.
Detection of chromosomal aberrations by a whole-genome microsatellite screen.
Rosenberg MJ, Vaske D, Killoran CE, Ning Y, Wargowski D, Hudgins L, Tifft CJ, Meck J, Blancato JK, Rosenbaum K, Pauli RM, Weber J, Biesecker LG. Rosenberg MJ, et al. Among authors: blancato jk. Am J Hum Genet. 2000 Feb;66(2):419-27. doi: 10.1086/302743. Am J Hum Genet. 2000. PMID: 10677301 Free PMC article.
51 results