Charles Lee is Director and Professor of The Jackson Laboratory for Genomic Medicine and a board certified clinical cytogeneticist who has an active research program in the identification and characterization of structural genomic variants using advanced technology platforms. His laboratory was the first to describe genome-wide structural genomic variants among humans with the subsequent development of two human CNV maps that are now actively used in the diagnoses of array based genetic tests. Dr. Lee is also a Distinguished Professor at Ewha Woman's University and the current President of the Human Genome Organisation.
1993: Lee C, Sasi R, Lin CC. Interstitial localization of telomeric DNA sequences in the Indian muntjac chromosomes: further evidence for tandem chromosome fusions in the karyotypic evolution of the Asian muntjacs. Cytogenet. Cell Genet.. 1993; 63: 156-9
1997 : Lee C, Wevrick R, Fisher RB, Ferguson-Smith MA, Lin CC. Human centromeric DNAs. Hum Genet. 1997; 100: 291-304
2004: Iafrate AJ, Feuk L, Rivera MN, Listewnik ML, Donahoe PK, Qi Y, Scherer SW, Lee C. Detection of large-scale variation in the human genome. Nat Genet. 2004; 36: 949-51
2006: Redon R, Ishikawa S, Fitch KR, Feuk L, Perry G, Andrews TD, Fiegler H,..., Tyler-Smith C*, Carter NP*, Aburatani H*, Jones KW*, Scherer SW*, Hurles ME*, Lee C*. Global variation in copy number in the human genome. Nature. 2006; 444: 444-54 *Co-senior authors
2007: Perry GH, Dominy NJ, Claw KG, Lee AS, Fiegler H, Redon R, Werner J, Villanea FA, Mountain JL, Misra R, Carter NP, Stone AC*, Lee C*. Diet and the evolution of human gene copy number variation. Nat Genet. 2007; 39: 1256-60 *Co-senior authors
2007: Lee C, Iafrate AJ, Brothman AR. Copy number variations and clinical cytogenetic diagnosis of constitutional disorders. Nat Genet. 2007; 39: S48-S54
2008: Perry GH, Ben-Dor A, Tsalenko A, Sampas N, Rodriguez-Revenga L, Tran CW, Scheffer A, Steinfeld I, Tsang P, Yamada NA, Park HS, Kim JI, Seo JS, Yakhini Z, Laderman S, Bruhn L, Lee C. The fine-scale and complex architecture of human copy number variation. Am J Hum Genet. 2008; 82: 685-95
2009: Kim JI, Ju Y, Park H, Kim S, Lee S, Yi JH,..., Park WY, Kim H, Church GM, Lee C, Kingsmore SF, Seo JS. A highly annotated whole genome sequence of a Korean individual. Nature. 2009; 460: 1011-5
2010: Conrad D, Pinto D, Redon R, Feuk L, Gokcumen O, Zhang Y,..., Tyler-Smith C*, Carter NP*, Scherer SW*, Hurles ME*, Lee C*. Common copy number variation in the human genome: mechanism, selection and disease association. Nature. 2010; 464: 704-12 *Co-senior authors
2011: Mills RE, Walter K, Stewart C, Handsaker RE, Chen K, Alkan C,..., Eichler EE*, Gerstein MB*, Hurles ME*, McCarroll SA*, Korbel, JO*, Lee C*. Mapping copy number variation by population-scale genome sequencing. Nature. 2011; 470: 59-65 *Co-senior authors
2012: Brown, KH, Dobrinski KP, Lee AS, Gokcumen O, Mills RE, Shi X, Chong WW, Chen JY, Yoo P, David S, Peterson SM, Raj T, Choy KW, Stranger B, Williamson RE, Zon LI, Freeman JL, Lee C. Extensive genetic diversity and sub-structuring among zebrafish strains revealed through copy number variant analysis. Proc Natl Acad Sci USA 2012; 109: 529-534
2013: Gokcumen O, Tischler V, Tica J, Zhu Q, Iskow RC, Lee E, Fritz MH, Langdon A, Stutz AM, Pavlidis P, Benes V, Mills RE, Park PJ, Korbel JO*, Lee C*. Primate genome architecture influences structural variation mechanisms and functional consequences. Proc Natl Acad Sci USA 2013; 110: 15764-9 *Co-senior author
2015: Sudmant PH, Rausch T, Gardner EJ, Handsaker RE, Abzov A,..., *Mills RE, Gerstein M, Bashir A, Stegle O, Devine SE, Lee C, Eichler EE, Korbel JO. An integrated map of structural variation in 2,504 numan genomes. Nature 2015; 526: 75-81
2017: Zhu Q, High FA, Zhang C, Cereira E, Russell M, Longoni M, Ryan M, Mil-homens A, Bellfy L, Coletti C, Bhayani P, Jila R, Donahoe PK, Lee C. Systematic analysis of copy number variation associated with congenital diaphragmatic hernia. Proc Natl Acad Sci USA 2018; 115: 5247-5252
