MICHAEL JOSEPH BAMSHAD
Affiliation: University of Washington
- Exome sequencing of extreme phenotypes identifies DCTN4 as a modifier of chronic Pseudomonas aeruginosa infection in cystic fibrosisMary J Emond
Department of Biostatistics, University of Washington, Seattle, Washington, USA
Nat Genet 44:886-9. 2012..aeruginosa airway infection, chronic P. aeruginosa infection and mucoid P. aeruginosa in individuals with cystic fibrosis...
- The Centers for Mendelian Genomics: a new large-scale initiative to identify the genes underlying rare Mendelian conditionsMichael J Bamshad
Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington 98195, USA
Am J Med Genet A 158:1523-5. 2012..Over the next few years and in collaboration with the global human genetics community, the CMGs hope to facilitate the identification of the genes underlying a very large fraction of all Mendelian disorders; see http://mendelian.org...
- Sheldon-Hall syndromeReha M Toydemir
Department of Human Genetics, Howard Hughes Medical Institute, University of Utah, Salt Lake City, UT, USA
Orphanet J Rare Dis 4:11. 2009..There is no specific therapy for SHS. However, patients benefit from early intervention with occupational and physical therapy, serial casting, and/or surgery. Life expectancy and cognitive abilities are normal...
- Genetic diversity in India and the inference of Eurasian population expansionJinchuan Xing
Department of Human Genetics, Eccles Institute of Human Genetics, University of Utah, 15 North 2030 East, Salt Lake City, UT 84112, USA
Genome Biol 11:R113. 2010..Despite recent large-scale efforts in discovering human genetic variation, India's vast reservoir of genetic diversity remains largely unexplored...
- Genetic variation in South Indian castes: evidence from Y-chromosome, mitochondrial, and autosomal polymorphismsW S Watkins
Department of Human Genetics, University of Utah, Salt Lake City, UT 84112, USA
BMC Genet 9:86. 2008..An understanding of these influences is increasingly important as gene mapping and case-control studies are initiated in South Indian populations...
- Exome sequencing as a tool for Mendelian disease gene discoveryMichael J Bamshad
Department of Pediatrics, University of Washington, Health Sciences Building RR349, 1959 NE Pacific Street, Seattle, Washington 98195 6320, USA
Nat Rev Genet 12:745-55. 2011..These advances also set the stage for applying exome and whole-genome sequencing to facilitate clinical diagnosis and personalized disease-risk profiling...
- Race, genetics and medicine: does the color of a leopard's spots matter?Michael Bamshad
Department of Pediatrics, University of Washington and Children s Hospital and Regional Medical Center, Seattle, Washington 98195, USA
Curr Opin Pediatr 19:613-8. 2007..The extent to which race is useful for making such predictions depends on how well race corresponds with genetic inferences of ancestry and whether ancestry is predictive of genotypes associated with risk...
- Lost in translation: meaningful policies for writing about genetics and raceMichael Bamshad
Department of Pediatrics, University of Washington, Seattle, WA 98195, USA
Am J Med Genet A 143:971-2. 2007
- Mutations in embryonic myosin heavy chain (MYH3) cause Freeman-Sheldon syndrome and Sheldon-Hall syndromeReha M Toydemir
Department of Human Genetics, University of Utah, Salt Lake City, Utah, USA
Nat Genet 38:561-5. 2006..Elucidation of the genetic basis of these syndromes redefines congenital contractures as unique defects of the sarcomere and provides insights about what has heretofore been a poorly understood group of disorders...
- Independent evolution of bitter-taste sensitivity in humans and chimpanzeesStephen Wooding
Department of Human Genetics, University of Utah, 15 North 2030 East, Salt Lake City, Utah 84112 5330, USA
Nature 440:930-4. 2006..Humans and chimpanzees share variable taste sensitivity to bitter compounds mediated by PTC receptor variants, but the molecular basis of this variation has arisen twice, independently, in the two species...
- Large-scale SNP analysis reveals clustered and continuous patterns of human genetic variationMark D Shriver
Penn State University, University Park, Pennsylvania, USA
Hum Genomics 2:81-9. 2005....
- The influence of CCL3L1 gene-containing segmental duplications on HIV-1/AIDS susceptibilityEnrique Gonzalez
Veterans Administration Research Center for AIDS and HIV 1 Infection, South Texas Veterans Health Care System, and Department of Medicine, University of Texas Health Science Center, San Antonio, TX 78229, USA
Science 307:1434-40. 2005....
- Familial aggregation of juvenile idiopathic arthritisSampath Prahalad
University of Utah School of Medicine, Salt Lake City, UT 84132, USA
Arthritis Rheum 50:4022-7. 2004..To estimate the degree of familial aggregation of juvenile idiopathic arthritis (JIA), determine whether the aggregation of JIA and the aggregation of type 1 diabetes mellitus (type 1 DM) overlap, and identify multiplex JIA pedigrees...
- Does race exist?Michael J Bamshad
University of Utah School of Medicine, USA
Sci Am 289:78-85. 2003
- Genetic variation among world populations: inferences from 100 Alu insertion polymorphismsW Scott Watkins
Department of Human Genetics, University of Utah, Salt Lake City, Utah 84112, USA
Genome Res 13:1607-18. 2003..These analyses also demonstrate that markers with higher F(ST) values have greater resolving power and produce more consistent genetic distance estimates...
- Expressivity of Holt-Oram syndrome is not predicted by TBX5 genotypeAnna-Marie E Brassington
Department of Human Genetics, University of Utah Health Sciences Center, 15 North 2030 East, Salt Lake City, UT 84112, USA
Am J Hum Genet 73:74-85. 2003..These results suggest that neither the type of mutation in TBX5 nor the location of a mutation in the T box is predictive of the expressivity of malformations in individuals with HOS...
- Human population genetic structure and inference of group membershipMichael J Bamshad
Department of Pediatrics, University of Utah, Salt Lake City, Utah 84112, USA
Am J Hum Genet 72:578-89. 2003..This suggests that a more flexible framework is needed for making inferences about population structure and the utility of proxies...
- HIV-1 infection and AIDS dementia are influenced by a mutant MCP-1 allele linked to increased monocyte infiltration of tissues and MCP-1 levelsEnrique Gonzalez
Veterans Administration Research Center for AIDS and HIV 1 Infection and University of Texas Health Science Center, San Antonio, TX 78229, USA
Proc Natl Acad Sci U S A 99:13795-800. 2002..In a broader context, the MCP-1 -2578G allele may serve as a genetic determinant of outcome of other disease states in which MP-mediated tissue injury is central to disease pathogenesis...
- Genetic and Molecular Basis of Congenital ContracturesMichael Bamshad; Fiscal Year: 2009..abstract_text> ..
- Genetic and Molecular Basis of Congenital ContracturesMICHAEL JOSEPH BAMSHAD; Fiscal Year: 2010..abstract_text> ..