Publications

Hancock AM, Witonsky DB, Gordon AS, Eshel G, Pritchard JK, Coop G, and Di Rienzo A. Adaptations to Climate in Candidate Genes for Common Metabolic Disorders. PLoS Genet. 4(2):e32 (2008)
Pemberton TJ, Mehta NU, Witonsky D, Di Rienzo A, Allayee H, Conti DV, and Patel PI Prevalence of common disease-associated variants in Asian Indians. BMC Genet. 9(1): 13 (2008)
Huo D, Kim HJ, Adebamowo CA, Ogundiran TO, Akang EE, Campbell O, Adenipekun A, Niu Q, Sveen L, Fackenthal JD, Fackenthal DL, Das S, Cox N, Di Rienzo A, and Olopade OI. Genetic polymorphisms in uridine diphospho- glucuronosyltransferase 1A1 and breast cancer risk in Africans. Breast Cancer Res Treat. (2007)
Clark VJ, Ptak SE, Tiemann I, Qian Y, Coop G, Stone AC, Przeworski M, Arnheim N, and Di Rienzo A. Combining sperm typing and linkage disequilibrium analyses reveals differences in selective pressures or recombination rates across human populations. Genetics 175(2): 795-804 (2007)
Susana Seixas, Gianpaolo Suriano, Filipa Carvalho, Raquel Seruca, Jorge Rocha, and Anna Di Rienzo Sequence Diversity at the Proximal 14q32.1 SERPIN Subcluster: Evidence for Natural Selection Favoring the Pseudogenization of SERPINA2 Mol. Biol. Evol. 24(2): 587-598 (2007)
Anna Di Rienzo Population genetics models of common diseases Curr. Opin. Genet. Dev. 16(6): 630-636 (2006)
Michael N. Weedon, Vanessa J. Clark, Yudong Qian, Yoav Ben-Shlomo, Nicholas Timpson, Shah Ebrahim, Debbie A. Lawlor, Marcus E. Pembrey, Susan Ring, Terry J. Wilkin, Linda D. Voss, Alison N. Jeffery, Brad Metcalf, Luigi Ferrucci, Anna Maria Corsi, Anna Murray, David Melzer, Bridget Knight, Bev Shields, George Davey Smith, Andrew T. Hattersley, Anna Di Rienzo, and Tim M. Frayling A Common Haplotype of the Glucokinase Gene Alters Fasting Glucose and Birth Weight: Association in Six Studies and Population-Genetics Analyses Am. J. Hum. Genet. 79(6): 991-1001 (2006)
Maitland, M. L., Di Rienzo, A., and Ratain, Mark, J. Interpreting Disparate Responses to Cancer Therapy: The Role of Human Population Genetics J. Clin. Oncol. 24(14): 2151-2157 (2006)
Maitland, M. L., Grimsley, C. Kuttab-Boulos, H., Witonsky, D., Kasza, K. E., Yang, L., Roe, B. A., and Di Rienzo, A. Comparative genomics analysis of human sequence variation in the UGT1A gene cluster. Pharmacogenomics J. 6: 52-62 (2006)
Thompson, E. E., Kuttab-Boulos, H., Yang, L., Roe, B. A., and Di Rienzo, A. Sequence diversity and haplotype structure at the human CYP3A cluster. Pharmacogenomics J. 6: 105-114 (2006)
Voight, B. F, Adams, A. M., Frisse, L. A., Qian, Y., Hudson, R. R. and Di Rienzo, A. Interrogating multiple aspects of variation in a full resequencing data set to infer human population size changes. PNAS 102: 18508-18513 (2005)
Thompson, E. E., Kuttab-Boulos, H., Krasowski, M. D., and Di Rienzo, A. Functional constraints on the constitutive androstane receptor inferred from human sequence variation and cross-species comparisons. Hum. Genomics 2: 168-178 (2005)
Di Rienzo, A., and Hudson R. R. An evolutionary framework for common diseases: the ancestral-susceptibility model. Trends Genet. 21: 596-601 (2005)
Clark, V. J., Cox, N. J., Hammond, M., Hanis, C. L., and Di Rienzo A. Haplotype structure and phylogenetic shadowing of a hpervariable region in the CAPN10 gene. Hum. Genet. 117: 258-266 (2005)
Vander Molen J., Frisse L. M., Fullerton S. M., Qian Y., del Bosque-Plata L., Hudson R. R., and Di Rienzo A. Population genetics of CAPN10 and GPR35: implications for the evolution of type 2 diabetes variants. Am. J. Hum. Genet. 76: 548-560 (2005)
Thompson E. E., Kuttab-Boulos H., Witonsky D., Yang L., Roe B. A., and Di Rienzo A. CYP3A variation and the evolution of salt-sensitivity variants. Am. J. Hum. Genet. 75: 1059-1069 (2004)
Kreitman, M., and Di Rienzo A. Balancing claims for balancing selection. Trends Genet. 20: 300-304 (2004)
Wall J. D., Frisse L. A., Hudson R. R., and Di Rienzo A. Comparative linkage-disequilibrium analysis of the β-globin hotspot in primates. Am. J. Hum. Genet. 73: 1330-1340 (2003)
Innocenti, F., Grimsley, C., Das, S., Ramirez, J., Cheng, C., Kuttab-Boulos, H., Ratain, M. J., and Di Rienzo, A. Haplotype structure of the UDP-glucuronosyltransferase 1A1 promoter in different ethnic groups. Pharmacogenetics 12:725-733 (2002)
Pluzhnikov A., Di Rienzo A. and Hudson R. R. Inferences about human demography based on multilocus analyses of noncoding sequences. Genetics 161: 1209-1218 (2002)
Aldrich C., Wambebe C., Odama L., Di Rienzo A., and  Ober C. Linkage disequilibrium and age estimates of a deletion polymorphism (1597ΔC) in HLA-G suggest non-neutral evolution. Hum. Immunol.   63: 405-412 (2002)
Fullerton S. M., Bartoszewicz A., Ybazeta G., Horikawa Y., Bell G. I., Kidd K. K., Cox N. J., Hudson R. R., and  Di Rienzo A. Geographic and haplotype structure of candidate type 2 diabetes susceptibility variants at the calpain-10 locus. Am. J. Hum. Genet. 70: 1096-1106 (2002)
Hamblin M. T., Thompson E. E., and Di Rienzo A. Complex signatures of natural selection at the Duffy blood group locus. Am. J. Hum. Genet. 70:369-383. (2002)
Frisse L, Hudson R. R, Bartoszewicz A., Wall J. D., Donfack J., and Di Rienzo A. Gene conversion and different population histories may explain the contrast between polymorphism and linkage disequilibrium levels. Am. J. Hum. Genet. 69: 831-843. (2001)
Smirnova I., Hamblin M., McBride C., Beutler B., and Di Rienzo A. Excess of rare amino acid polymorphisms in the Toll-like receptor 4 in humans. Genetics 158: 1657-1664. (2001)
Wu X., Di Rienzo A., and Ober C. A population genetics study of single nucleotide polymorphisms in the interleukin 4 receptor a (IL4RA) gene. Genes Immun. 2: 128-134. (2001)
Richards M., Macaulay V., Hickey E., Vega E., Guida V., Rengo C., Sellitto D., Cruciani F., Kivisild R., Villems R., Cabrera V., Thomas M., Bradman N., Rychkov S., Rychkov O., Gölge M., Dimitrov D., Hill E., Bradley D., Romano V., Papiha S., Stefanescu G., Hatina J., Belledi M., Di Rienzo A., Oppenheim A., Santachiara-Benerecetti S., Scozzari R., Sykes B., Torroni A., and Bandelt H. J. Tracing European founder lineages in the Near Eastern mtDNA pool. Am. J. Hum. Genet. 67:1251-1276. (2000)
Hamblin M. T. and Di Rienzo A. Detection of the signature of natural selection in humans: evidence from the Duffy blood group locus. Am. J. Hum. Genet. 66: 1669-1679. (2000)
Gonser R., Donnelly P., Nicholson G., and Di Rienzo A. Microsatellite mutations and inferences about human evolution. Genetics 154: 1793-1807. (2000)
Przeworski M., Hudson R. R., and Di Rienzo A. Adjusting the focus on human variation. Trends Genet. 16: 279-325. (2000)
Hall D., Ybazeta G., Destro-Bisol G., Petzl-Erler M. L., and Di Rienzo A. Variability at the uridine diphosphate glucuronosyltransferase 1A1 promoter in human populations and primates. Pharmacogenetics 9: 591-599. (1999)
Krings M., Salem A. H., Bauer K., Geisert H., Malek A. K., Chaix L., Welsby D., Di Rienzo A., Utermann G., Sajantila A., Pääbo S., and Stoneking M. MtDNA analysis of Nile River Valley populations: a genetic corridor or barrier for migration? Am. J. Hum. Genet. 64: 1166-1176. (1999)
Iyer L., Hall D., Das S., Mortell M. A., Ramirez J., Kim S., Di Rienzo A., and Ratain M. J. Phenotype/genotype correlation of in vitro SN-38 and bilirubin glucuronidation in human liver tissue with uridine diphosphate glucuronosyltransferase 1A1 (UGT1A1) promoter polymorphism. Clin. Pharm. Ther. 65: 576-582. (1999)
Ober C., Cox N. J., Abney M., Di Rienzo A., Lander E. S., et al. Genome-wide search for asthma susceptibility loci in a founder population. Hum. Mol. Genet. 7: 1393-1398. (1998)
Di Rienzo A. Studies of Populations and Genetic Diseases: Mixing It Up. Trends Genet. 14: 218-219. (1998)
Di Rienzo A., Donnelly P., Toomajian C., Sisk B., Hill A., Petzl-Erler M., Haines G., and Barch D. Heterogeneity of microsatellite mutations within and between loci, and implications for human demographic histories. Genetics 148: 1269-1284. (1998)
Sajantila A., Lahermo P., Anttinen T., Lukka M., Sistonen P., Savontaus M., Lukka P., Beckman L., Tranebjaerg L., Gedde-Dahl T., Issel-Tarver L., Di Rienzo A., & Pääbo S. Genes and Languages in Europe: an analysis of mitochondrial DNA lineages. Genome Res. 5:42-52. (1995)
Peterson A. C., Di Rienzo A., Lehesjoki A., de la Chapelle A., Slatkin M., & Freimer N. B. The distribution of linkage disequilibrium over anonymous genome regions. Hum. Mol. Genet. 4:887-894. (1995)