Publications

Jeong C, Peter BM, Basnyat B, Neupane M, Beall CM, Childs G, Craig SR, Novembre J, Di Rienzo A. A longitudinal cline characterizes the genetic structure of human populations in the Tibetan plateau. PLoS One. 2017 Apr 27;12(4):e0175885

Alleyne D, Witonsky DB, Mapes B, Nakagome S, Sommars M, Hong E, Muckala KA, Di Rienzo A, Kupfer SS. Colonic transcriptional response to 1α,25(OH)(2) vitamin D(3) in African- and European-Americans. J Steroid Biochem Mol Biol. 2017 Apr;168:49-59. 

Cole AM, Cox S, Jeong C, Petousi N, Aryal DR, Droma Y, Hanaoka M, Ota M, Kobayashi N, Gasparini P, Montgomery H, Robbins P, Di Rienzo A, Cavalleri GL. Genetic structure in the Sherpa and neighboring Nepalese populations. BMC Genomics. 2017 Jan 19;18(1):102. 

Akey JM, Di Rienzo A. Editorial overview: Genetics of human origin: New horizons in human population genetics. Curr Opin Genet Dev. 2016 41:v-vi

Mallick S, Li H, Lipson M, Mathieson I, Gymrek M, Racimo F, Zhao M, Chennagiri N, Nordenfelt S, Tandon A, Skoglund P, Lazaridis I, Sankararaman S, Fu Q, Rohland N, Renaud G, Erlich Y, Willems T, Gallo C, Spence JP, Song YS, Poletti G, Balloux F, van Driem G, de Knijff P, Romero IG, Jha AR, Behar DM, Bravi CM, Capelli C, Hervig T, Moreno-Estrada A, Posukh OL, Balanovska E, Balanovsky O, Karachanak-Yankova S, Sahakyan H, Toncheva D, Yepiskoposyan L, Tyler-Smith C, Xue Y, Abdullah MS, Ruiz-Linares A, Beall CM, Di Rienzo A, Jeong C, Starikovskaya EB, Metspalu E, Parik J, Villems R, Henn BM, Hodoglugil U, Mahley R, Sajantila A, Stamatoyannopoulos G, Wee JT, Khusainova R, Khusnutdinova E, Litvinov S, Ayodo G, Comas D, Hammer MF, Kivisild T, Klitz W, Winkler CA, Labuda D, Bamshad M, Jorde LB, Tishkoff SA, Watkins WS, Metspalu M, Dryomov S, Sukernik R, Singh L, Thangaraj K, Pääbo S, Kelso J, Patterson N, Reich D. The Simons Genome Diversity Project: 300 genomes from 142 diverse populations. Nature. 2016 [Epub ahead of print]

Kariuki SN, Maranville JC, Baxter SS, Jeong C, Nakagome S, Hrusch CL, Witonsky DB, Sperling AI, Di Rienzo A. Mapping Variation in Cellular and Transcriptional Response to 1,25-Dihydroxyvitamin D3 in Peripheral Blood Mononuclear Cells. PLoS One. 2016 11(7):e0159779

Jeong C, Ozga AT, Witonsky DB, Malmström H, Edlund H, Hofman CA, Hagan RW, Jakobsson M, Lewis CM, Aldenderfer MS, Di Rienzo A, Warinner C. Long-term genetic stability and a high-altitude East Asian origin for the peoples of the high valleys of the Himalayan arc. Proc Natl Acad Sci U S A. 2016 Jun 20. [Epub ahead of print]

Kariuki SN, Blischak JD, Nakagome S, Witonsky DB, Di Rienzo A. Patterns of Transcriptional Response to 1,25-Dihydroxyvitamin D3 and Bacterial Lipopolysaccharide in Primary Human Monocytes. G3 (Bethesda). 2016 6(5):1345-55.

Nakagome S, Alkorta-Aranburu G, Amato R, Howie B, Peter BM, Hudson RR, Di Rienzo A. Estimating the ages of selection signals from different epochs in human history. Mol Biol Evol. 2016; 33(3):657-69.

Jeong C, Nakagome S, Di Rienzo A. Deep History of East Asian Populations Revealed Through Genetic Analysis of the Ainu. Genetics. 2016; 202(1):261-72. 

Sudmant PH, Mallick S, Nelson BJ, Hormozdiari F, Krumm N, Huddleston J, Coe BP, Baker C, Nordenfelt S, Bamshad M, Jorde LB, Posukh OL, Sahakyan H, Watkins WS, Yepiskoposyan L, Abdullah MS, Bravi CM, Capelli C, Hervig T, Wee JT, Tyler-Smith C, van Driem G, Romero IG, Jha AR, Karachanak-Yankova S, Toncheva D, Comas D, Henn B, Kivisild T, Ruiz-Linares A, Sajantila A, Metspalu E, Parik J, Villems R, Starikovskaya EB, Ayodo G, Beall CM, Di Rienzo A, Hammer MF, Khusainova R, Khusnutdinova E, Klitz W, Winkler C, Labuda D, Metspalu M, Tishkoff SA, Dryomov S, Sukernik R, Patterson N, Reich D, Eichler EE. Global diversity, population stratification, and selection of human copy-number variation. Science. 2015 Sep 11;349(6253):aab3761

Huang C, Haritunians T, Okou DT, Cutler DJ, Zwick ME, Taylor KD, Datta LW, Maranville JC, Liu Z, Ellis S, Chopra P, Alexander JS, Baldassano RN, Cross RK, Dassopoulos T, Dhere TA, Duerr RH, Hanson JS, Hou JK, Hussain SZ, Isaacs KL, Kachelries KE, Kader H, Kappelman MD, Katz J, Kellermayer R, Kirschner BS, Kuemmerle JF, Kumar A, Kwon JH, Lazarev M, Mannon P, Moulton DE, Osuntokun BO, Patel A, Rioux JD, Rotter JI, Saeed S, Scherl EJ, Silverberg MS, Silverman A, Targan SR, Valentine J, Wang MH, Simpson CL, Bridges SL, Kimberly RP, Rich SS, Cho JH, Di Rienzo A, Kao LW, McGovern DP, Brant SR, Kugathasan S. Characterization of Genetic Loci That Affect Susceptibility to Inflammatory Bowel Diseases in African Americans. Gastroenterology. 2015 Aug 14. pii:S0016-5085(15)01103-8.

Maranville JC, Di Rienzo A. Combining genetic and nongenetic biomarkers to realize the promise of pharmacogenomics for inflammatory diseasesPharmacogenomics. 2014 Nov;15(15):1931-40

Muñoz-Fuentes V, Marcet-Ortega M, Alkorta-Aranburu G, Linde Forsberg C, Morrell JM, Manzano-Piedras E, Söderberg A, Daniel K, Villalba A, Toth A, Di Rienzo A, Roig I, Vilà C. Strong Artificial Selection in Domestic Mammals Did Not Result in an Increased Recombination Rate. Mol Biol Evol. 2015 Feb;32(2):510-23. 

Jeong C, Di Rienzo A. (2014) Adaptations to local environments in modern human populations. Curr Opin Genet Dev. 2014;29:1-8.

Maranville JC, Micic D, Hanauer SB, Di Rienzo A, Kupfer SS. (2014) In vitro sensitivity assays and clinical response to glucocorticoids in patients with inflammatory bowel disease. J Crohns Colitis2014;8(11):1539-47.

Maranville JC, Nanda R, Fleming GF, Skor MN, Di Rienzo A, Conzen SD. (2014) Gene expression of peripheral blood cells reveals pathways downstream of glucocorticoid receptor antagonism and nab-paclitaxel treatment. Pharmacogenet Genomics2014;24(9):451-8.

Li H, Giger ML, Sun C, Ponsukcharoen U, Huo D, Lan L, Olopade OI, Jamieson AR, Brown JB, Di Rienzo A. (2014) Pilot study demonstrating potential association between breast cancer image-based risk phenotypes and genomic biomarkers. Med Phys. 41(3):031917

Jeong C, Alkorta-Aranburu G, Basnyat B, Neupane M, Witonsky DB, Pritchard JK, Beall CM, Di Rienzo A. (2014) Admixture facilitates genetic adaptations to high altitude in Tibet. Nat Commun. 5:3281

Paré-Brunet L, Glubb D, Evans P, Berenguer-Llergo A, Etheridge AS, Skol AD, Di Rienzo A, Duan S, Gamazon ER, Innocenti F. (2014) Discovery and functional assessment of gene variants in the vascular endothelial growth factor pathway. Hum Mutat. 35(2):227-35.

Kupfer SS, Maranville JC, Baxter SS, Huang Y, Di Rienzo A (2013) Comparison of Cellular and Transcriptional Responses to 1,25-Dihydroxyvitamin D3 and Glucocorticoids in Peripheral Blood Mononuclear Cells. PLOS ONE 8(10): e76643

Maranville JC, Baxter SS, Witonsky DB, Chase MA, Di Rienzo A. (2013) Genetic Mapping with Multiple Levels of Phenotypic Information Reveals Determinants of Lymphocyte Glucocorticoid SensitivityAm J Hum Genet. 93(4):735-743

Lundgrin EL, Janocha AJ, Koch CD, Gebremedhin A, Di Rienzo A, Alkorta-Aranburu G, Brittenham GM, Erzurum SC, Beall CM. (2013) Plasma hepcidin of Ethiopian highlanders with steady-state hypoxia. Blood. 122(11):1989-91

Luca F, Di Rienzo A (2013) Allelic imbalance assays to quantify allele-specific gene expression and transcription factor binding. Methods Mol Biol 1015:201-211

Luca F, Maranville JC, Richards AL, Witonsky DB, Stephens M, Di Rienzo A (2013) Genetic, functional and molecular features of glucocorticoid receptor binding. PLOS ONE 8(4):e61654

Wall JD, Kim SK, Luca F, Carbone L. Mootnick AR, de Jong PJ, Di Rienzo A (2013) Incomplete lineage sorting is common in extant gibbon genera. PLOS ONE 8(1):e53682

Maranville JC, Baxter SS, Torres JM, Di Rienzo A (2013) Inter-ethnic differences in lymphocyte sensitivity to glucocorticoids reflect variation in transcriptional response. Pharmacogenomics J 13(2):121-9

Reich D, Patterson N, Campbell D, Tandon A, Mazieres S, Ray N, Parra MV, Rojas W, Duque C, Mesa N, García LF, Triana O, Blair S, Maestre A, Dib JC, Bravi CM, Bailliet G, Corach D, Hünemeier T, Bortolini MC, Salzano FM, Petzl-Erler ML, Acuña-Alonzo V, Aguilar-Salinas C, Canizales-Quinteros S, Tusié-Luna T, Riba L, Rodríguez-Cruz M, Lopez-Alarcón M, Coral-Vazquez R, Canto-Cetina T, Silva-Zolezzi I, Fernandez-Lopez JC, Contreras AV, Jimenez-Sanchez G, Gómez-Vázquez MJ, Molina J, Carracedo A, Salas A, Gallo C, Poletti G, Witonsky DB, Alkorta-Aranburu G, Sukernik RI, Osipova L, Fedorova SA, Vasquez R, Villena M, Moreau C, Barrantes R, Pauls D, Excoffier L, Bedoya G, Rothhammer F, Dugoujon JM, Larrouy G, Klitz W, Labuda D, Kidd J, Kidd K, Di Rienzo A, Freimer NB, Price AL, Ruiz-Linares A. Reconstructing Native American population history. Nature. 2012 488(7411):370-4

Alkorta-Aranburu G, Beall CM, Witonsky DB, Gebremedhin A, Pritchard JK, Di Rienzo A (2012) The genetic architecture of adaptations to high altitude in Ethiopia. PLOS Genetics 8(12): e1003110

Maranville JC, Luca F, Stephens M, Di Rienzo A (2012) Mapping gene-environment interactions at regulatory polymorphisms: Insights into mechanisms of phenotypic variation. Transcription 3(2):56-62

Sun C, Southard C, Huo D, Hernandez RD, Witonsky DB, Olopade OI, Di Rienzo A (2012) SNP discovery, expression and cis-regulatory variation in the UGT2B genes. Pharmacogenomics J. 12(4):287-96. 

Munoz-Fuentes M, Di Rienzo A, Vila C (2011) Prdm9, a Major Determinant of Meiotic Recombination Hotspots, Is Not Functional in Dogs and Their Wild Relatives, Wolves and Coyotes, PLoS ONE 6(11):e25498

Luca F, Hudson RR, Witonsky DB, Di Rienzo A (2011) A reduced representation approach to population genetic analyses and applications to human evolutionGenome Res. 21(7):1087-98. 

Sun C, Southard C, Olopade OI, Di Rienzo A (2011) Differential allelic expression of c.1568C > A at UGT2B15 is due to variation in a novel cis-regulatory element in the 3' UTRGene 481(1):24-8. 

Maranville JC, Luca F, Richards AL, Wen X, Witonsky DB, Baxter S, Stephens M, Di Rienzo A (2011) Interactions between glucocorticoid treatment and cis-regulatory polymorphisms contribute to cellular response phenotypesPLoS Genet. 7(7):e1002162  

Sun C, Huo D, Southard C, Nemesure B, Hennis A, Cristina Leske M, Wu SY, Witonsky DB, Olopade OI, Di Rienzo A (2011) A signature of balancing selection in the region upstream to the human UGT2B4 gene and implications for breast cancer riskHum Genet. Jun 10.  

Hancock AM, Witonsky DB, Alkorta-Aranburu G, Beall CM, Gebremedhin A, Sukernik R, Utermann G, Pritchard JK, Coop G, Di Rienzo A (2011) Adaptations to climate-mediated selective pressures in humansPLoS Genet. 7(4):e1001375 

Sucheston L, Witonsky DB, Hastings D, Yildiz O, Clark VJ, Di Rienzo A, Onel K (2011) Natural selection and functional genetic variation in the p53 pathwayHum Mol Genet. 20: 1502-08

Sun C, Southard C, Witonsky DB, Kittler R, Di Rienzo A (2010) Allele-specific down-regulation of RPTOR expression induced by retinoids contributes to climate adaptationsPLoS Genet. 6(10):e1001178. 

Pritchard JK, Di Rienzo A (2010) Adaptation - not by sweeps aloneNat Rev Genet. 11(10):665-7. 

Hancock AM, Clark VJ, Qian Y, Di Rienzo A (2010) Population Genetic Analysis of the Uncoupling Proteins Supports a Role for UCP3 in Human Cold Resistance. Mol Biol Evol. 28(1):601-14

Hancock AM, Alkorta-Aranburu G, Witonsky DB, Di Rienzo A (2010) Adaptations to new environments in humans: the role of subtle allele frequency shiftsPhilos Trans R Soc Lond B Biol Sci. 365(1552):2459-68. 

Coop G, Witonsky D, Di Rienzo A, and Pritchard JK (2010) Using Environmental Correlations to Identify Loci Underlying Local AdaptationGenetics. 185(4):1411-23

Hancock AM, Witonsky DB, Ehler E, Alkorta-Aranburu G, Beall C, Gebremedhin A, Sukernik R, Utermann G, Pritchard J, Coop G, and Di Rienzo A (2010) Human adaptations to diet, subsistence, and ecoregion are due to subtle shifts in allele frequency. Proc Natl Acad Sci. 107 Suppl 2:8924-30.

Luca F, Perry GH, and Di Rienzo A (2010) Evolutionary adaptations to dietary changes. Annu Rev Nutr. 30:291-314

Sun C, Olopade Ol, and Di Rienzo A (2010) rs2981582 is associated with FGFR2 expression in normal breastCancer Genet Cytogenet. 197(2):193-4. 

Novembre J, Di Rienzo A (2009) Spatial patterns of variation due to natural selection in humansNat Rev Genet. 10(11): 745-55

Sun C, Southard C, Witonsky DB, Olopade OI, Di Rienzo A (2009) Allelic imbalance (AI) identifies novel tissue-specific cis-regulatory variation for human UGT2B15Hum Mutat. 662(1-2):88-92.

Luca F, Kashyap S, Southard C, Zou M, Witonsky D, Di Rienzo A, Conzen SD (2009) Adaptive Variation Regulates the Expression of the Human SGK1 Gene in Response to Stress. PLoS Genet. 5(5): e1000489 

Perera MA, Thirumaran RK, Cox NJ, Hanauer S, Das S, Brimer-Cline C, Lamba V, Schuetz EG, Ratain MJ, Di Rienzo A (2009) Prediction of CYP3A4 enzyme activity using haplotype tag SNPs in African AmericansPharmacogenomics J. 9(1): 49-60

Sun C, Southard C, Di Rienzo A (2009) Characterization of a novel splicing variant in the RAPTOR geneMutat Res. Mar 9;662(1-2):88-92.

Hancock AM and Di Rienzo A (2008) Detecting the genetic signature of natural selection in human populations: models, methods, and data. Annu. Rev. Anthropol. 37: 197-217

Sun C, Di Rienzo A (2008) UGT2B7 is not expressed in normal breastBreast Cancer Res Treat. 117(1):225-6     

Hancock AM, Witonsky DB, Gordon AS, Eshel G, Pritchard JK, Coop G, and Di Rienzo A (2008) Adaptations to Climate in Candidate Genes for Common Metabolic Disorders. PLoS Genet. 4(2):e32

Pemberton TJ, Mehta NU, Witonsky D, Di Rienzo A, Allayee H, Conti DV, and Patel PI (2008) Prevalence of common disease-associated variants in Asian IndiansBMC Genet. 9(1): 13

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 (2007) Genetic polymorphisms in uridine diphospho- glucuronosyltransferase 1A1 and breast cancer risk in AfricansBreast Cancer Res Treat. 110(2):367-76

Seixas S, Suriano G, Carvalho F, Seruca R, Rocha J, and Di Rienzo A (2007) 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

Di Rienzo A (2006) Population genetics models of common diseases Curr. Opin. Genet. Dev. 16(6): 630-636

Weedon MN, Clark VJ, Qian Y, Ben-Shlomo Y, Timpson N, Ebrahim S, Lawlor DA, Pembrey ME, Ring S, Wilkin TJ, Voss LD,  Jeffery AN, Metcalf B, Ferrucci L, Corsi AM, Murray A, Melzer D, Knight B, Shields B, Davey Smith G, Hattersley AT, Di Rienzo A, and Frayling TM (2006) A Common Haplotype of the Glucokinase Gene Alters Fasting Glucose and Birth Weight: Association in Six Studies and Population-Genetics AnalysesAm. J. Hum. Genet. 79(6): 991-1001 

Maitland ML, Di Rienzo A, and Ratain MJ (2006) Interpreting Disparate Responses to Cancer Therapy: The Role of Human Population Genetics. J. Clin. Oncol. 24(14): 2151-2157

Maitland ML, Grimsley C, Kuttab-Boulos H, Witonsky D, Kasza KE, Yang L, Roe BA, and Di Rienzo A (2006) Comparative genomics analysis of human sequence variation in the UGT1A gene clusterPharmacogenomics J. 6: 52-62

Thompson EE, Kuttab-Boulos, H, Yang L, Roe BA, and Di Rienzo A (2006) Sequence diversity and haplotype structure at the human CYP3A clusterPharmacogenomics J. 6: 105-114

Voight BF, Adams AM, Frisse LA, Qian Y, Hudson RR and Di Rienzo A (2005) Interrogating multiple aspects of variation in a full resequencing data set to infer human population size changesProc Natl Acad Sci USA 102: 18508-18513

Thompson EE, Kuttab-Boulos H, Krasowski MD, and Di Rienzo A (2005) Functional constraints on the constitutive androstane receptor inferred from human sequence variation and cross-species comparisonsHum. Genomics 2: 168-178

Di Rienzo A, and Hudson RR (2005) An evolutionary framework for common diseases: the ancestral-susceptibility modelTrends Genet. 21: 596-601

Clark VJ, Cox NJ, Hammond M, Hanis CL, and Di Rienzo A (2005) Haplotype structure and phylogenetic shadowing of a hpervariable region in the CAPN10 geneHum. Genet. 117: 258-266

Vander Molen J, Frisse LM, Fullerton SM, Qian Y, del Bosque-Plata L, Hudson RR, and Di Rienzo A (2005) Population genetics of CAPN10 and GPR35: implications for the evolution of type 2 diabetes variantsAm. J. Hum. Genet. 76: 548-560

Thompson EE, Kuttab-Boulos H, Witonsky D, Yang L, Roe BA,and Di Rienzo A (2004) CYP3A variation and the evolution of salt-sensitivity variantsAm. J. Hum. Genet. 75: 1059-1069

Kreitman M, and Di Rienzo A (2004) Balancing claims for balancing selectionTrends Genet. 20: 300-304

Liu W, Innocenti F, Chen PX, Desai A, Grimsley C, Di Rienzo A, Das S, Ratain M. Haplotype analysis of UGT1A1 and UGT1A9 gene polymorphisms related to the glucuronidation of SN-38, the active metabolite of irinotecanJ Clin Oncol. 2004 22(14_suppl):2085

Wall JD, Frisse LA, Hudson RR, and Di Rienzo A (2003) Comparative linkage-disequilibrium analysis of the β-globin hotspot in primatesAm. J. Hum. Genet. 73: 1330-1340

Innocenti F, Grimsley C, Das S, Ramirez J, Cheng C, Kuttab-Boulos H, Ratain MJ, and Di Rienzo A (2002) Haplotype structure of the UDP-glucuronosyltransferase 1A1 promoter in different ethnic groupsPharmacogenetics 12:725-733 

Pluzhnikov A, Di Rienzo A and Hudson RR (2002) Inferences about human demography based on multilocus analyses of noncoding sequencesGenetics 161: 1209-1218

Aldrich C, Wambebe C, Odama L, Di Rienzo A, and  Ober C (2002) Linkage disequilibrium and age estimates of a deletion polymorphism (1597ΔC) in HLA-G suggest non-neutral evolutionHum. Immunol.   63: 405-412

Fullerton SM, Bartoszewicz A, Ybazeta G, Horikawa Y, Bell GI, Kidd KK, Cox NJ, Hudson RR, and  Di Rienzo A (2002) Geographic and haplotype structure of candidate type 2 diabetes susceptibility variants at the calpain-10 locusAm. J. Hum. Genet. 70: 1096-1106

Hamblin MT, Thompson EE, and Di Rienzo A (2002) Complex signatures of natural selection at the Duffy blood group locusAm. J. Hum. Genet. 70:369-383

Frisse L, Hudson RR, Bartoszewicz A, Wall JD, Donfack J, and Di Rienzo A (2001) Gene conversion and different population histories may explain the contrast between polymorphism and linkage disequilibrium levelsAm. J. Hum. Genet. 69: 831-843

Smirnova I, Hamblin M, McBride C, Beutler B, and Di Rienzo A (2001) Excess of rare amino acid polymorphisms in the Toll-like receptor 4 in humansGenetics 158: 1657-1664

Wu X, Di Rienzo A, and Ober C (2001) A population genetics study of single nucleotide polymorphisms in the interleukin 4 receptor a (IL4RA) geneGenes Immun. 2: 128-134

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 HJ (2000) Tracing European founder lineages in the Near Eastern mtDNA poolAm. J. Hum. Genet. 67:1251-1276

Hamblin MT and Di Rienzo A (2000) Detection of the signature of natural selection in humans: evidence from the Duffy blood group locusAm. J. Hum. Genet. 66: 1669-1679

Gonser R, Donnelly P, Nicholson G, and Di Rienzo A (2000) Microsatellite mutations and inferences about human evolutionGenetics 154: 1793-1807

Przeworski M, Hudson RR, and Di Rienzo A (2000) Adjusting the focus on human variationTrends Genet. 16: 279-325

Hall D, Ybazeta G, Destro-Bisol G, Petzl-Erler ML, and Di Rienzo A (1999) Variability at the uridine diphosphate glucuronosyltransferase 1A1 promoter in human populations and primatesPharmacogenetics 9: 591-599

Krings M, Salem AH, Bauer K, Geisert H, Malek AK, Chaix L, Welsby D, Di Rienzo A, Utermann G, Sajantila A, Pääbo S, and Stoneking M (1999) MtDNA analysis of Nile River Valley populations: a genetic corridor or barrier for migration? Am. J. Hum. Genet. 64: 1166-1176

Iyer L, Hall D, Das S, Mortell MA, Ramirez J, Kim S, Di Rienzo A, and Ratain MJ (1999) Phenotype/genotype correlation of in vitro SN-38 and bilirubin glucuronidation in human liver tissue with uridine diphosphate glucuronosyltransferase 1A1 (UGT1A1) promoter polymorphismClin. Pharm. Ther. 65: 576-582

Ober C, Cox NJ, Abney M, Di Rienzo A, Lander ES, et al. (1998) Genome-wide search for asthma susceptibility loci in a founder populationHum. Mol. Genet. 7: 1393-1398

Di Rienzo A (1998) Studies of Populations and Genetic Diseases: Mixing It UpTrends Genet. 14: 218-219

Di Rienzo A, Donnelly P, Toomajian C, Sisk B, Hill A, Petzl-Erler M, Haines G, and Barch D (1998) Heterogeneity of microsatellite mutations within and between loci, and implications for human demographic historiesGenetics 148: 1269-1284

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 (1995) Genes and Languages in Europe: an analysis of mitochondrial DNA lineagesGenome Res. 5:42-52