Publications
Carrier detection and prenatal diagnosis in Duchenne and Becker muscular dystrophy families, using dinucleotide repeat polymorphisms. Am J Hum Genet. 1991 ;49(5):951-60.
. The extent of genetic variation in the CCR5 gene. Nat Genet. 1997 ;16(3):221-2.
. Association between serum insulin growth factor-I (IGF-I) and a simple sequence repeat in IGF-I gene: implications for genetic studies of bone mineral density. J Clin Endocrinol Metab. 1998 ;83(7):2286-90.
. Three common CFTR mutations should be included in a neonatal screening programme for cystic fibrosis in Sweden. Clin Genet. 1999 ;56(4):318-22.
. Haplotypes at ATM identify coding-sequence variation and indicate a region of extensive linkage disequilibrium. Am J Hum Genet. 2000 ;67(6):1437-51.
. ADD1 460W allele associated with cardiovascular disease in hypertensive individuals. Hypertension. 2002 ;39(6):1053-7.
. Factor XIIIA Val34Leu polymorphism does not predict risk of coronary heart disease: The Atherosclerosis Risk in Communities (ARIC) Study. Arterioscler Thromb Vasc Biol. 2002 ;22(2):348-52.
. Haplotype and linkage disequilibrium architecture for human cancer-associated genes. Genome Res. 2002 ;12(12):1846-53.
. Haplotype structure, LD blocks, and uneven recombination within the LRP5 gene. Genome Res. 2003 ;13(5):845-55.
. The International HapMap Project. Nature. 2003 ;426(6968):789-96.
Investigating single nucleotide polymorphism (SNP) density in the human genome and its implications for molecular evolution. Gene. 2003 ;312:207-13.
. Polymorphisms at the G72/G30 gene locus, on 13q33, are associated with bipolar disorder in two independent pedigree series. Am J Hum Genet. 2003 ;72(5):1131-40.
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Demographic, environmental, and genetic predictors of metabolic side effects of hydrochlorothiazide treatment in hypertensive subjects. Am J Hypertens. 2005 ;18(8):1077-83.
. An entropy-based statistic for genomewide association studies. Am J Hum Genet. 2005 ;77(1):27-40.
. A haplotype map of the human genome. Nature. 2005 ;437(7063):1299-320.
Positive selection of a pre-expansion CAG repeat of the human SCA2 gene. PLoS Genet. 2005 ;1(3):e41.
. SNPdetector: a software tool for sensitive and accurate SNP detection. PLoS Comput Biol. 2005 ;1(5):e53.
. Evaluating potential for whole-genome studies in Kosrae, an isolated population in Micronesia. Nat Genet. 2006 ;38(2):214-7.
. P-selectin Thr715Pro polymorphism predicts P-selectin levels but not risk of incident coronary heart disease or ischemic stroke in a cohort of 14595 participants: the Atherosclerosis Risk in Communities Study. Atherosclerosis. 2006 ;186(1):74-9.
. Sequence variations in PCSK9, low LDL, and protection against coronary heart disease. N Engl J Med. 2006 ;354(12):1264-72.
. Comment on "Ongoing adaptive evolution of ASPM, a brain size determinant in Homo sapiens". Science. 2007 ;316(5823):370.
. An entropy-based genome-wide transmission/disequilibrium test. Hum Genet. 2007 ;121(3-4):357-67.
. Family-based association study of matrix metalloproteinase-3 and -9 haplotypes with susceptibility to ischemic white matter injury. Hum Genet. 2007 ;120(5):671-80.
. Genome-wide detection and characterization of positive selection in human populations. Nature. 2007 ;449(7164):913-8.
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