Cynthia C Morton
Affiliation: Harvard University
Zepeda Mendoza C, Morton C. The Iceberg under Water: Unexplored Complexity of Chromoanagenesis in Congenital Disorders. Am J Hum Genet. 2019;104:565-577 pubmed publisher
..We highlight future applications of routine screening of complex and balanced SVs in the clinic, as these represent a potential and often neglected genetic disease source, a true "iceberg under water." ..
Hayden M, Ordulu Z, Gallagher C, Quade B, Anchan R, Middleton N, et al
. Clinical, pathologic, cytogenetic, and molecular profiling in self-identified black women with uterine leiomyomata. Cancer Genet. 2018;222-223:1-8 pubmed publisher
..This case series indicates that presently recognized genetic and molecular characteristics of UL do not appear to explain the increased prevalence and morbidity of UL in black women. ..
Wilch E, Morton C. Historical and Clinical Perspectives on Chromosomal Translocations. Adv Exp Med Biol. 2018;1044:1-14 pubmed publisher
Zepeda Mendoza C, Ibn Salem J, Kammin T, Harris D, Rita D, Gripp K, et al
. Computational Prediction of Position Effects of Apparently Balanced Human Chromosomal Rearrangements. Am J Hum Genet. 2017;101:206-217 pubmed publisher
Schilit S, Morton C. 3C-PCR: a novel proximity ligation-based approach to phase chromosomal rearrangement breakpoints with distal allelic variants. Hum Genet. 2018;137:55-62 pubmed publisher
..Given its efficacy and versatility, 3C-PCR is ideal for use in phasing chromosomal rearrangement breakpoints with allelic variants located at a genomic distance over a megabase. ..