Mary-Claire KingProfessor of Genome Sciences and of Medicine (Medical Genetics) |
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Research:In our group, we use next generation sequencing approaches to identify genes responsible for complex human conditions. Our primary areas of interest are inherited breast and ovarian cancer, the genetics of schizophrenia, and Mendelian disorders in founder populations. Our goals are to identify and characterize critical genes in informative families and populations. We are particularly interested in disentangling genetic heterogeneity in complex traits, thereby revealing the individually rare severe alleles that cause common disorders. Our lab also applies genomic sequencing to the identification of victims of human rights abuses. |
Selected Publications:Pierce SB, Chisholm KM, Lynch ED, Lee MK, Walsh T, Opitz JM, Li W, Klevit RE, King MC. 2011. Mutations in mitochondrial histidyl tRNA synthetase HARS2 cause ovarian dysgenesis and sensorineural hearing loss of Perrault syndrome. Proc Natl Acad Sci USA. Apr 4, 2011 [Epub ahead of print] Nord AS, Lee M, King MC, Walsh T. 2011. Accurate and exact CNV identification from targeted high-throughput sequence data. BMC Genomics 12: e184. [Epub ahead of print] Casadei S, Norquist BM, Walsh T, Stray SM, Mandell JB, Lee MK, Stamatoyannopoulos JA, King M-C. 2011. Contribution to familial breast cancer of inherited mutations in the BRCA2-interacting protein PALB2. Cancer Res 71: 2222-2229. Walsh T, Lee MK, Casadei S, Thornton AM, Stray SM, Pennil C, Nord AS, Mandell JB, Swisher EM, King M-C. 2010. Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing. Proc Natl Acad Sci USA 107: 12629-12633 McClellan J, King M-C. 2010. Genetic heterogeneity in human disease. [Commentary] Cell 141: 210-217. Tobin DM, Vary JC Jr, Ray JP, Walsh GS, Dunstan SJ, Bang ND, Hagge DA, Khadge S, King M-C, Hawn TR, Moens CB, Ramakrishnan L. 2010. The lta4h locus modulates susceptibility to mycobacterial infection in zebrafish and humans. Cell 140:717-730. Ozcelik T, Kanaan M, Avraham KB, Yannoukakos D, Megarbane A, Tadmouri GO, Middleton L, Romeo G, King M-C, Levy-Lahad E. 2010. Collaborative genomics for human health and cooperation in the Mediterranean region. [Commentary] Nat Genet 42: 641-645. Renbaum P, Kellerman E, Jaron R, Geiger D, Segel R, Lee M, King M-C, Levy-Lahad E. 2009. Spinal muscular atrophy with pontocerebellar hypoplasia is caused by a mutation in the VRK1 gene. Am J Hum Genet 85: 281-289. Walsh T, McClellan JM, McCarthy SE, Addington AM, Pierce SB, Cooper GM, Nord AS, Kusenda M, Malhotra D, Bhandari A, Stray SM, Rippey CF, Roccanova P, Makarov V, Lakshmi B, Findling RL, Sikich L, Stromberg T, Merriman B, Gogtay N, Butler P, Eckstrand K, Noory L, Gochman P, Long R, Chen Z, Davis S, Baker C, Eichler EE, Meltzer PS, Nelson SF, Singleton AB, Lee MK, Rapoport JL, King M-C, Sebat J. 2008. Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia. Science 320: 539-543. additional publication listings available via PubMed
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phone: (206) 616-4294 | fax: (206) 616-4295