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Clinical Chemistry|January 3, 2025
Structural Variation Interpretation in the Genome Sequencing Era: Lessons from CytogeneticsLucilla Pizzo, M Katharine RuddMethods in Molecular Biology (Clifton, N.J.)|January 10, 2012
Structural variation in subtelomeresM Katharine RuddTrends in Genetics : TIG|July 26, 2015
Human Structural Variation: Mechanisms of Chromosome RearrangementsBrooke Weckselblatt, M Katharine RuddTrends in Genetics : TIG|October 12, 2004
Analysis of the centromeric regions of the human genome assemblyM Katharine Rudd, Huntington F WillardMutation Research|April 4, 2015
Conservation of CFTR codon frequency through primates suggests synonymous mutations could have a functional effectLucilla Pizzo, Andrés Iriarte, Fernando Alvarez-Valin, et al.Genome Research|June 14, 2015
Unbalanced translocations arise from diverse mutational mechanisms including chromothripsisBrooke Weckselblatt, Karen E Hermetz, M Katharine RuddGenome Research|December 14, 2005
The evolutionary dynamics of alpha-satelliteM Katharine Rudd, Gregory A Wray, Huntington F WillardAmerican Journal of Human Genetics|February 3, 2015
Next-generation sequencing of duplication CNVs reveals that most are tandem and some create fusion genes at breakpointsScott Newman, Karen E Hermetz, Brooke Weckselblatt, et al.Molecular and Cellular Probes|February 25, 2014
An image analysis method to quantify CFTR subcellular localizationLucilla Pizzo, María Inés Fariello, Paola Lepanto, et al.Molecular and Cellular Biology|October 16, 2003
Human artificial chromosomes with alpha satellite-based de novo centromeres show increased frequency of nondisjunction and anaphase lagM Katharine Rudd, Robert W Mays, Stuart Schwartz, et al.Pageof 6