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Anna Di Rienzo

TitleProfessor
InstitutionUniversity of Chicago
DepartmentHuman Genetics
AddressChicago IL 60637
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    Collapse Overview 
    Collapse overview
    Research in our labs focuses on the genetic architecture of traits and diseases that vary across human populations and on understanding the role of natural selection in shaping this architecture. To this end, we use empirical population genetics and functional genomics approaches coupled with computational analyses of genome-scale data.


    Collapse Biography 
    Collapse education and training
    University of Rome La Sapienza, Rome, Italy10/1980Human Genetics
    University of Rome La Sapienza, Rome, Italy3/1984Medical Genetics
    Institute of Cell Biology, National Research Council, Rome, Italy9/1988Human Molecular Genetics
    University of California, Berkeley, CA1/1991Human Population Genetics
    University of California, San Francisco, CA8/1992Human Molecular Genetics

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    Collapse Bibliographic 
    Collapse selected publications
    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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    1. Nakagome S, Hudson RR, Di Rienzo A. Inferring the model and onset of natural selection under varying population size from the site frequency spectrum and haplotype structure. Proc Biol Sci. 2019 02 13; 286(1896):20182541. PMID: 30963935.
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    2. Krause MD, Huang RT, Wu D, Shentu TP, Harrison DL, Whalen MB, Stolze LK, Di Rienzo A, Moskowitz IP, Civelek M, Romanoski CE, Fang Y. Genetic variant at coronary artery disease and ischemic stroke locus 1p32.2 regulates endothelial responses to hemodynamics. Proc Natl Acad Sci U S A. 2018 11 27; 115(48):E11349-E11358. PMID: 30429326.
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    3. Lindo J, Haas R, Hofman C, Apata M, Moraga M, Verdugo RA, Watson JT, Viviano Llave C, Witonsky D, Beall C, Warinner C, Novembre J, Aldenderfer M, Di Rienzo A. The genetic prehistory of the Andean highlands 7000 years BP though European contact. Sci Adv. 2018 11; 4(11):eaau4921. PMID: 30417096.
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    4. Jeong C, Witonsky DB, Basnyat B, Neupane M, Beall CM, Childs G, Craig SR, Novembre J, Di Rienzo A. Detecting past and ongoing natural selection among ethnically Tibetan women at high altitude in Nepal. PLoS Genet. 2018 09; 14(9):e1007650. PMID: 30188897.
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    5. Gnecchi-Ruscone GA, Jeong C, De Fanti S, Sarno S, Trancucci M, Gentilini D, Di Blasio AM, Sherpa MG, Sherpa PT, Marinelli G, Di Marcello M, Natali L, Peluzzi D, Pettener D, Di Rienzo A, Luiselli D, Sazzini M. The genomic landscape of Nepalese Tibeto-Burmans reveals new insights into the recent peopling of Southern Himalayas. Sci Rep. 2017 Nov 14; 7(1):15512. PMID: 29138459.
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    6. Jeong C, Peter BM, Basnyat B, Neupane M, Beall CM, Childs G, Craig SR, Novembre J, Di Rienzo A. Correction: A longitudinal cline characterizes the genetic structure of human populations in the Tibetan plateau. PLoS One. 2017; 12(8):e0183407. PMID: 28797074.
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    7. 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; 12(4):e0175885. PMID: 28448508.
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    8. Cho JI, Basnyat B, Jeong C, Di Rienzo A, Childs G, Craig SR, Sun J, Beall CM. Ethnically Tibetan women in Nepal with low hemoglobin concentration have better reproductive outcomes. Evol Med Public Health. 2017; 2017(1):82-96. PMID: 28567284.
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    9. Alleyne D, Witonsky DB, Mapes B, Nakagome S, Sommars M, Hong E, Muckala KA, Di Rienzo A, Kupfer SS. Colonic transcriptional response to 1a,25(OH)2 vitamin D3 in African- and European-Americans. J Steroid Biochem Mol Biol. 2017 04; 168:49-59. PMID: 28163244.
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    10. 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 01 19; 18(1):102. PMID: 28103797.
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    11. Akey JM, Di Rienzo A. Editorial overview: Genetics of human origin: New horizons in human population genetics. Curr Opin Genet Dev. 2016 12; 41:v-vi. PMID: 27889118.
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    12. 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 Oct 13; 538(7624):201-206. PMID: 27654912.
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    13. 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. PMID: 27454520.
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    14. 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 07 05; 113(27):7485-90. PMID: 27325755.
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    15. 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 05 03; 6(5):1345-55. PMID: 26976439.
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    16. 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 Mar; 33(3):657-69. PMID: 26545921.
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    17. Jeong C, Nakagome S, Di Rienzo A. Deep History of East Asian Populations Revealed Through Genetic Analysis of the Ainu. Genetics. 2016 Jan; 202(1):261-72. PMID: 26500257.
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    18. 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 JF, Wang MH, Simpson CL, Bridges SL, Kimberly RP, Rich SS, Cho JH, Rienzo AD, Kao LWH, McGovern DPB, Brant SR, Kugathasan S. Characterization of genetic loci that affect susceptibility to inflammatory bowel diseases in African Americans. Gastroenterology. 2015 Nov; 149(6):1575-1586. PMID: 26278503.
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    19. 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 09 11; 349(6253):aab3761. PMID: 26249230.
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    20. 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. PMID: 25414125.
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    21. Maranville JC, Nanda R, Fleming GF, Skor MN, Di Rienzo A, Conzen SD. Gene expression of peripheral blood cells reveals pathways downstream of glucocorticoid receptor antagonism and nab-paclitaxel treatment. Pharmacogenet Genomics. 2014 Sep; 24(9):451-8. PMID: 25000515.
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    22. Jeong C, Di Rienzo A. Adaptations to local environments in modern human populations. Curr Opin Genet Dev. 2014 Dec; 29:1-8. PMID: 25129844.
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    23. Maranville JC, Micic D, Hanauer SB, Di Rienzo A, Kupfer SS. In vitro sensitivity assays and clinical response to glucocorticoids in patients with inflammatory bowel disease. J Crohns Colitis. 2014 Nov; 8(11):1539-47. PMID: 25052346.
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    24. Li H, Giger ML, Sun C, Ponsukcharoen U, Huo D, Lan L, Olopade OI, Jamieson AR, Brown JB, Di Rienzo A. Pilot study demonstrating potential association between breast cancer image-based risk phenotypes and genomic biomarkers. Med Phys. 2014 Mar; 41(3):031917. PMID: 24593735.
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    25. Jeong C, Alkorta-Aranburu G, Basnyat B, Neupane M, Witonsky DB, Pritchard JK, Beall CM, Di Rienzo A. Admixture facilitates genetic adaptations to high altitude in Tibet. Nat Commun. 2014; 5:3281. PMID: 24513612.
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    26. Maranville JC, Di Rienzo A. Combining genetic and nongenetic biomarkers to realize the promise of pharmacogenomics for inflammatory diseases. Pharmacogenomics. 2014; 15(15):1931-40. PMID: 25495413.
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    27. Paré-Brunet L, Glubb D, Evans P, Berenguer-Llergo A, Etheridge AS, Skol AD, Di Rienzo A, Duan S, Gamazon ER, Innocenti F. Discovery and functional assessment of gene variants in the vascular endothelial growth factor pathway. Hum Mutat. 2014 Feb; 35(2):227-35. PMID: 24186849.
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    28. Kupfer SS, Maranville JC, Baxter SS, Huang Y, Di Rienzo A. Comparison of cellular and transcriptional responses to 1,25-dihydroxyvitamin d3 and glucocorticoids in peripheral blood mononuclear cells. PLoS One. 2013; 8(10):e76643. PMID: 24116131.
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    29. Maranville JC, Baxter SS, Witonsky DB, Chase MA, Di Rienzo A. Genetic mapping with multiple levels of phenotypic information reveals determinants of lymphocyte glucocorticoid sensitivity. Am J Hum Genet. 2013 Oct 03; 93(4):735-43. PMID: 24055111.
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    30. Lundgrin EL, Janocha AJ, Koch CD, Gebremedhin A, Di Rienzo A, Alkorta-Aranburu G, Brittenham GM, Erzurum SC, Beall CM. Plasma hepcidin of Ethiopian highlanders with steady-state hypoxia. Blood. 2013 Sep 12; 122(11):1989-91. PMID: 24030262.
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    31. Luca F, Maranville JC, Richards AL, Witonsky DB, Stephens M, Di Rienzo A. Genetic, functional and molecular features of glucocorticoid receptor binding. PLoS One. 2013; 8(4):e61654. PMID: 23637875.
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    32. Wall JD, Kim SK, Luca F, Carbone L, Mootnick AR, de Jong PJ, Di Rienzo A. Incomplete lineage sorting is common in extant gibbon genera. PLoS One. 2013; 8(1):e53682. PMID: 23341974.
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    33. Luca F, Di Rienzo A. Allelic imbalance assays to quantify allele-specific gene expression and transcription factor binding. Methods Mol Biol. 2013; 1015:201-11. PMID: 23824858.
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    34. Alkorta-Aranburu G, Beall CM, Witonsky DB, Gebremedhin A, Pritchard JK, Di Rienzo A. The genetic architecture of adaptations to high altitude in Ethiopia. PLoS Genet. 2012; 8(12):e1003110. PMID: 23236293.
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    35. 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 Aug 16; 488(7411):370-4. PMID: 22801491.
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    36. Maranville JC, Luca F, Stephens M, Di Rienzo A. Mapping gene-environment interactions at regulatory polymorphisms: insights into mechanisms of phenotypic variation. Transcription. 2012 Mar-Apr; 3(2):56-62. PMID: 22414753.
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    37. Maranville JC, Baxter SS, Torres JM, Di Rienzo A. Inter-ethnic differences in lymphocyte sensitivity to glucocorticoids reflect variation in transcriptional response. Pharmacogenomics J. 2013 Apr; 13(2):121-9. PMID: 22158329.
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    38. Muñoz-Fuentes V, Di Rienzo A, Vilà C. Prdm9, a major determinant of meiotic recombination hotspots, is not functional in dogs and their wild relatives, wolves and coyotes. PLoS One. 2011; 6(11):e25498. PMID: 22102853.
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    39. Sun C, Huo D, Nemesure B, Hennis A, Leske MC, Wu SY, Niu Q, Olopade OI, Di Rienzo A. Lack of association between common UGT2B nonsynonymous single-nucleotide polymorphisms and breast cancer in populations of African ancestry. Int J Cancer. 2012 Jun 01; 130(11):2740-2. PMID: 21780111.
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    40. Maranville JC, Luca F, Richards AL, Wen X, Witonsky DB, Baxter S, Stephens M, Di Rienzo A. Interactions between glucocorticoid treatment and cis-regulatory polymorphisms contribute to cellular response phenotypes. PLoS Genet. 2011 Jul; 7(7):e1002162. PMID: 21750684.
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    41. Sun C, Huo D, Southard C, Nemesure B, Hennis A, Cristina Leske M, Wu SY, Witonsky DB, Olopade OI, Di Rienzo A. A signature of balancing selection in the region upstream to the human UGT2B4 gene and implications for breast cancer risk. Hum Genet. 2011 Dec; 130(6):767-75. PMID: 21660508.
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    42. Luca F, Hudson RR, Witonsky DB, Di Rienzo A. A reduced representation approach to population genetic analyses and applications to human evolution. Genome Res. 2011 Jul; 21(7):1087-98. PMID: 21628451.
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    43. Hancock AM, Witonsky DB, Alkorta-Aranburu G, Beall CM, Gebremedhin A, Sukernik R, Utermann G, Pritchard JK, Coop G, Di Rienzo A. Adaptations to climate-mediated selective pressures in humans. PLoS Genet. 2011 Apr; 7(4):e1001375. PMID: 21533023.
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    44. Sun C, Southard C, Olopade OI, Di Rienzo A. Differential allelic expression of c.1568C > A at UGT2B15 is due to variation in a novel cis-regulatory element in the 3'UTR. Gene. 2011 Jul 15; 481(1):24-8. PMID: 21513781.
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    45. Sun C, Southard C, Huo D, Hernandez RD, Witonsky DB, Olopade OI, Di Rienzo A. SNP discovery, expression and cis-regulatory variation in the UGT2B genes. Pharmacogenomics J. 2012 Aug; 12(4):287-96. PMID: 21358749.
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    46. Sucheston L, Witonsky DB, Hastings D, Yildiz O, Clark VJ, Di Rienzo A, Onel K. Natural selection and functional genetic variation in the p53 pathway. Hum Mol Genet. 2011 Apr 15; 20(8):1502-8. PMID: 21266458.
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    47. Sun C, Southard C, Witonsky DB, Kittler R, Di Rienzo A. Allele-specific down-regulation of RPTOR expression induced by retinoids contributes to climate adaptations. PLoS Genet. 2010 Oct 28; 6(10):e1001178. PMID: 21060808.
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    48. Pritchard JK, Di Rienzo A. Adaptation - not by sweeps alone. Nat Rev Genet. 2010 Oct; 11(10):665-7. PMID: 20838407.
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    49. Hancock AM, Clark VJ, Qian Y, Di Rienzo A. Population genetic analysis of the uncoupling proteins supports a role for UCP3 in human cold resistance. Mol Biol Evol. 2011 Jan; 28(1):601-14. PMID: 20802238.
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    50. Hancock AM, Alkorta-Aranburu G, Witonsky DB, Di Rienzo A. Adaptations to new environments in humans: the role of subtle allele frequency shifts. Philos Trans R Soc Lond B Biol Sci. 2010 Aug 27; 365(1552):2459-68. PMID: 20643735.
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    51. Luca F, Perry GH, Di Rienzo A. Evolutionary adaptations to dietary changes. Annu Rev Nutr. 2010 Aug 21; 30:291-314. PMID: 20420525.
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    52. Coop G, Witonsky D, Di Rienzo A, Pritchard JK. Using environmental correlations to identify loci underlying local adaptation. Genetics. 2010 Aug; 185(4):1411-23. PMID: 20516501.
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    53. Hancock AM, Witonsky DB, Ehler E, Alkorta-Aranburu G, Beall C, Gebremedhin A, Sukernik R, Utermann G, Pritchard J, Coop G, Di Rienzo A. Colloquium paper: human adaptations to diet, subsistence, and ecoregion are due to subtle shifts in allele frequency. Proc Natl Acad Sci U S A. 2010 May 11; 107 Suppl 2:8924-30. PMID: 20445095.
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    54. Sun C, Olopade OI, Di Rienzo A. rs2981582 is associated with FGFR2 expression in normal breast. Cancer Genet Cytogenet. 2010 Mar; 197(2):193-4. PMID: 20193855.
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    55. Sun C, Southard C, Witonsky DB, Olopade OI, Di Rienzo A. Allelic imbalance (AI) identifies novel tissue-specific cis-regulatory variation for human UGT2B15. Hum Mutat. 2010 Jan; 31(1):99-107. PMID: 19847790.
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    56. Novembre J, Di Rienzo A. Spatial patterns of variation due to natural selection in humans. Nat Rev Genet. 2009 Nov; 10(11):745-55. PMID: 19823195.
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    57. Luca F, Kashyap S, Southard C, Zou M, Witonsky D, Di Rienzo A, Conzen SD. Adaptive variation regulates the expression of the human SGK1 gene in response to stress. PLoS Genet. 2009 May; 5(5):e1000489. PMID: 19461886.
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    58. Sun C, Southard C, Di Rienzo A. Characterization of a novel splicing variant in the RAPTOR gene. Mutat Res. 2009 Mar 09; 662(1-2):88-92. PMID: 19388141.
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    59. Sun C, Di Rienzo A. UGT2B7 is not expressed in normal breast. Breast Cancer Res Treat. 2009 Sep; 117(1):225-6. PMID: 19116784.
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    60. Perera MA, Thirumaran RK, Cox NJ, Hanauer S, Das S, Brimer-Cline C, Lamba V, Schuetz EG, Ratain MJ, Di Rienzo A. Prediction of CYP3A4 enzyme activity using haplotype tag SNPs in African Americans. Pharmacogenomics J. 2009 Feb; 9(1):49-60. PMID: 18825162.
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    61. Pemberton TJ, Mehta NU, Witonsky D, Di Rienzo A, Allayee H, Conti DV, Patel PI. Prevalence of common disease-associated variants in Asian Indians. BMC Genet. 2008 Feb 04; 9:13. PMID: 18248681.
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    62. Hancock AM, Witonsky DB, Gordon AS, Eshel G, Pritchard JK, Coop G, Di Rienzo A. Adaptations to climate in candidate genes for common metabolic disorders. PLoS Genet. 2008 Feb; 4(2):e32. PMID: 18282109.
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    63. 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, Olopade OI. Genetic polymorphisms in uridine diphospho-glucuronosyltransferase 1A1 and breast cancer risk in Africans. Breast Cancer Res Treat. 2008 Jul; 110(2):367-76. PMID: 17909964.
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    64. Clark VJ, Ptak SE, Tiemann I, Qian Y, Coop G, Stone AC, Przeworski M, Arnheim N, Di Rienzo A. Combining sperm typing and linkage disequilibrium analyses reveals differences in selective pressures or recombination rates across human populations. Genetics. 2007 Feb; 175(2):795-804. PMID: 17151245.
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    65. Seixas S, Suriano G, Carvalho F, Seruca R, Rocha J, Di Rienzo A. Sequence diversity at the proximal 14q32.1 SERPIN subcluster: evidence for natural selection favoring the pseudogenization of SERPINA2. Mol Biol Evol. 2007 Feb; 24(2):587-98. PMID: 17135331.
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    66. Di Rienzo A. Population genetics models of common diseases. Curr Opin Genet Dev. 2006 Dec; 16(6):630-6. PMID: 17055247.
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    67. 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, Smith GD, Hattersley AT, Di Rienzo A, Frayling TM. 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. 2006 Dec; 79(6):991-1001. PMID: 17186458.
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    68. Thompson EE, Kuttab-Boulos H, Yang L, Roe BA, Di Rienzo A. Sequence diversity and haplotype structure at the human CYP3A cluster. Pharmacogenomics J. 2006 Mar-Apr; 6(2):105-14. PMID: 16314882.
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    69. Maitland ML, Grimsley C, Kuttab-Boulos H, Witonsky D, Kasza KE, Yang L, Roe BA, Di Rienzo A. Comparative genomics analysis of human sequence variation in the UGT1A gene cluster. Pharmacogenomics J. 2006 Jan-Feb; 6(1):52-62. PMID: 16314881.
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    70. Voight BF, Adams AM, Frisse LA, Qian Y, Hudson RR, Di Rienzo A. Interrogating multiple aspects of variation in a full resequencing data set to infer human population size changes. Proc Natl Acad Sci U S A. 2005 Dec 20; 102(51):18508-13. PMID: 16352722.
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    71. Di Rienzo A, Hudson RR. An evolutionary framework for common diseases: the ancestral-susceptibility model. Trends Genet. 2005 Nov; 21(11):596-601. PMID: 16153740.
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    72. Thompson EE, Kuttab-Boulos H, Krasowski MD, Di Rienzo A. Functional constraints on the constitutive androstane receptor inferred from human sequence variation and cross-species comparisons. Hum Genomics. 2005 Sep; 2(3):168-78. PMID: 16197734.
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    73. Clark VJ, Cox NJ, Hammond M, Hanis CL, Di Rienzo A. Haplotype structure and phylogenetic shadowing of a hypervariable region in the CAPN10 gene. Hum Genet. 2005 Jul; 117(2-3):258-66. PMID: 15906097.
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    74. Vander Molen J, Frisse LM, Fullerton SM, Qian Y, Del Bosque-Plata L, Hudson RR, Di Rienzo A. Population genetics of CAPN10 and GPR35: implications for the evolution of type 2 diabetes variants. Am J Hum Genet. 2005 Apr; 76(4):548-60. PMID: 15696418.
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    75. Thompson EE, Kuttab-Boulos H, Witonsky D, Yang L, Roe BA, Di Rienzo A. CYP3A variation and the evolution of salt-sensitivity variants. Am J Hum Genet. 2004 Dec; 75(6):1059-69. PMID: 15492926.
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    76. Kreitman M, Di Rienzo A. Balancing claims for balancing selection. Trends Genet. 2004 Jul; 20(7):300-4. PMID: 15219394.
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    77. Wall JD, Frisse LA, Hudson RR, Di Rienzo A. Comparative linkage-disequilibrium analysis of the beta-globin hotspot in primates. Am J Hum Genet. 2003 Dec; 73(6):1330-40. PMID: 14628290.
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    78. Innocenti F, Grimsley C, Das S, Ramírez J, Cheng C, Kuttab-Boulos H, Ratain MJ, Di Rienzo A. Haplotype structure of the UDP-glucuronosyltransferase 1A1 promoter in different ethnic groups. Pharmacogenetics. 2002 Dec; 12(9):725-33. PMID: 12464801.
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    79. Pluzhnikov A, Di Rienzo A, Hudson RR. Inferences about human demography based on multilocus analyses of noncoding sequences. Genetics. 2002 Jul; 161(3):1209-18. PMID: 12136023.
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    80. Aldrich C, Wambebe C, Odama L, Di Rienzo A, Ober C. Linkage disequilibrium and age estimates of a deletion polymorphism (1597DeltaC) in HLA-G suggest non-neutral evolution. Hum Immunol. 2002 May; 63(5):405-12. PMID: 11975984.
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    81. Fullerton SM, Bartoszewicz A, Ybazeta G, Horikawa Y, Bell GI, Kidd KK, Cox NJ, Hudson RR, Di Rienzo A. Geographic and haplotype structure of candidate type 2 diabetes susceptibility variants at the calpain-10 locus. Am J Hum Genet. 2002 May; 70(5):1096-106. PMID: 11891618.
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    82. Hamblin MT, Thompson EE, Di Rienzo A. Complex signatures of natural selection at the Duffy blood group locus. Am J Hum Genet. 2002 Feb; 70(2):369-83. PMID: 11753822.
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    83. Frisse L, Hudson RR, Bartoszewicz A, Wall JD, Donfack J, Di Rienzo A. Gene conversion and different population histories may explain the contrast between polymorphism and linkage disequilibrium levels. Am J Hum Genet. 2001 Oct; 69(4):831-43. PMID: 11533915.
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    84. Smirnova I, Hamblin MT, McBride C, Beutler B, Di Rienzo A. Excess of rare amino acid polymorphisms in the Toll-like receptor 4 in humans. Genetics. 2001 Aug; 158(4):1657-64. PMID: 11514453.
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    85. Wu X, Di Rienzo A, Ober C. A population genetics study of single nucleotide polymorphisms in the interleukin 4 receptor alpha (IL4RA) gene. Genes Immun. 2001 May; 2(3):128-34. PMID: 11426321.
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    86. Richards M, Macaulay V, Hickey E, Vega E, Sykes B, Guida V, Rengo C, Sellitto D, Cruciani F, Kivisild T, Villems R, Thomas M, Rychkov S, Rychkov O, Rychkov Y, Gölge M, Dimitrov D, Hill E, Bradley D, Romano V, Calì F, Vona G, Demaine A, Papiha S, Triantaphyllidis C, Stefanescu G, Hatina J, Belledi M, Di Rienzo A, Novelletto A, Oppenheim A, Nørby S, Al-Zaheri N, Santachiara-Benerecetti S, Scozari R, Torroni A, Bandelt HJ. Tracing European founder lineages in the Near Eastern mtDNA pool. Am J Hum Genet. 2000 Nov; 67(5):1251-76. PMID: 11032788.
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    87. Przeworski M, Hudson RR, Di Rienzo A. Adjusting the focus on human variation. Trends Genet. 2000 Jul; 16(7):296-302. PMID: 10858659.
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    88. Hamblin MT, Di Rienzo A. Detection of the signature of natural selection in humans: evidence from the Duffy blood group locus. Am J Hum Genet. 2000 May; 66(5):1669-79. PMID: 10762551.
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    89. Gonser R, Donnelly P, Nicholson G, Di Rienzo A. Microsatellite mutations and inferences about human demography. Genetics. 2000 Apr; 154(4):1793-807. PMID: 10747070.
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    90. Hall D, Ybazeta G, Destro-Bisol G, Petzl-Erler ML, Di Rienzo A. Variability at the uridine diphosphate glucuronosyltransferase 1A1 promoter in human populations and primates. Pharmacogenetics. 1999 Oct; 9(5):591-9. PMID: 10591539.
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    91. Iyer L, Hall D, Das S, Mortell MA, Ramírez J, Kim S, Di Rienzo A, Ratain MJ. Phenotype-genotype correlation of in vitro SN-38 (active metabolite of irinotecan) and bilirubin glucuronidation in human liver tissue with UGT1A1 promoter polymorphism. Clin Pharmacol Ther. 1999 May; 65(5):576-82. PMID: 10340924.
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    92. Krings M, Salem AE, Bauer K, Geisert H, Malek AK, Chaix L, Simon C, Welsby D, Di Rienzo A, Utermann G, Sajantila A, Pääbo S, Stoneking M. mtDNA analysis of Nile River Valley populations: A genetic corridor or a barrier to migration? Am J Hum Genet. 1999 Apr; 64(4):1166-76. PMID: 10090902.
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    93. Ober C, Cox NJ, Abney M, Di Rienzo A, Lander ES, Changyaleket B, Gidley H, Kurtz B, Lee J, Nance M, Pettersson A, Prescott J, Richardson A, Schlenker E, Summerhill E, Willadsen S, Parry R. Genome-wide search for asthma susceptibility loci in a founder population. The Collaborative Study on the Genetics of Asthma. Hum Mol Genet. 1998 Sep; 7(9):1393-8. PMID: 9700192.
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    94. Di Rienzo A. Studies of populations and genetic diseases: mixing it up. Inherited disorders and their genes in different European populations, Acquafredda di Maratea, Italy, 6-11 February 1998. Trends Genet. 1998 Jun; 14(6):218-9. PMID: 9635402.
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    95. Di Rienzo A, Donnelly P, Toomajian C, Sisk B, Hill A, Petzl-Erler ML, Haines GK, Barch DH. Heterogeneity of microsatellite mutations within and between loci, and implications for human demographic histories. Genetics. 1998 Mar; 148(3):1269-84. PMID: 9539441.
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    96. Di Rienzo A, Peterson AC, Freimer NB. Amplification with arbitrary primers. Methods Mol Biol. 1996; 54:123-9. PMID: 8597783.
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    97. Peterson AC, Di Rienzo A, Lehesjoki AE, de la Chapelle A, Slatkin M, Freimer NB. The distribution of linkage disequilibrium over anonymous genome regions. Hum Mol Genet. 1995 May; 4(5):887-94. PMID: 7633449.
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    98. Di Rienzo A, Peterson AC, Garza JC, Valdes AM, Slatkin M, Freimer NB. Mutational processes of simple-sequence repeat loci in human populations. Proc Natl Acad Sci U S A. 1994 Apr 12; 91(8):3166-70. PMID: 8159720.
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    99. Di Rienzo AM, Furlini G, Olivier R, Ferris S, Heeney J, Montagnier L. Different proliferative response of human and chimpanzee lymphocytes after contact with human immunodeficiency virus type 1 gp120. Eur J Immunol. 1994 Jan; 24(1):34-40. PMID: 8020568.
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    100. Hasegawa M, Di Rienzo A, Kocher TD, Wilson AC. Toward a more accurate time scale for the human mitochondrial DNA tree. J Mol Evol. 1993 Oct; 37(4):347-54. PMID: 8308904.
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    101. Di Rienzo A, Peterson A, Das S, Freimer NB. Genome mapping by arbitrary amplification of yeast artificial chromosomes. Mamm Genome. 1993; 4(7):359-63. PMID: 8358170.
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    102. Di Rienzo A, Wilson AC. Branching pattern in the evolutionary tree for human mitochondrial DNA. Proc Natl Acad Sci U S A. 1991 Mar 01; 88(5):1597-601. PMID: 2000368.
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    103. Modiano G, Morpurgo G, Terrenato L, Novelletto A, Di Rienzo A, Colombo B, Purpura M, Mariani M, Santachiara-Benerecetti S, Brega A, et al. Protection against malaria morbidity: near-fixation of the alpha-thalassemia gene in a Nepalese population. Am J Hum Genet. 1991 Feb; 48(2):390-7. PMID: 1990845.
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    104. Novelletto A, Hafez M, Deidda G, Di Rienzo A, Felicetti L, el-Tahan H, el Morsi Z, el-Ziny M, al-Tonbary Y, Sittien A, et al. Molecular characterization of beta-thalassemia mutations in Egypt. Hum Genet. 1990 Aug; 85(3):272-4. PMID: 1975554.
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    105. Martinez G, Ferreira R, Hernandez A, Di Rienzo A, Felicetti L, Colombo B. Frequency of the -alpha 3.7 thalassemia deletion in the non-white Cuban population. Gene Geogr. 1990 Aug; 4(2):65-9. PMID: 2101253.
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    106. Rapicetta M, Hailù K, Morace G, Bisanti L, Di Rienzo AM, Ciccaglione AR, Bekura D, Pasquini P, Rossi GB. Prevalence of HBeAg, anti-HBe serological markers and HBV-DNA in asymptomatic carriers in Ethiopia. Eur J Epidemiol. 1989 Dec; 5(4):481-5. PMID: 2606178.
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    107. Martinez G, Novelletto A, Di Rienzo A, Felicetti L, Colombo B. A case of hereditary persistence of fetal hemoglobin caused by a gene not linked to the beta-globin cluster. Hum Genet. 1989 Jul; 82(4):335-7. PMID: 2472351.
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    108. Novelletto A, Hafez M, Di Rienzo A, Felicetti L, Deidda G, el Morsi Z, al-Tonbary Y, el-Ziny M, Abd-el-Gelil N, Terrenato L. Frequency and molecular types of deletional alpha-thalassemia in Egypt. Hum Genet. 1989 Feb; 81(3):211-3. PMID: 2537793.
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    109. Kefene H, Rapicetta M, Rossi GB, Bisanti L, Bekura D, Morace G, Palladino P, Di Rienzo A, Conti S, Bassani F, et al. Ethiopian National Hepatitis B Study. J Med Virol. 1988 Jan; 24(1):75-84. PMID: 3339335.
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    110. Di Rienzo A, Felicetti L, Noveletto A, Colombo B, Bianco I, Brancati C. Alpha +-thalassemia haplotypes in Italy. Birth Defects Orig Artic Ser. 1987; 23(5A):39-42. PMID: 2825834.
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    111. Novelletto A, Di Rienzo A, Martinez G, Ferreira R, Colombo B. A further case of G gamma-beta + hereditary persistence of Hb F associated to the -202 C----G mutation in the G gamma promoter region. Hemoglobin. 1987; 11(4):389-93. PMID: 2444568.
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    112. Di Rienzo A, Novelletto A, Aliquò MC, Bianco I, Tagarelli A, Brancati C, Colombo B, Felicetti L. Molecular basis for HbH disease in Italy: geographical distribution of deletional and nondeletional alpha-thalassemia haplotypes. Am J Hum Genet. 1986 Nov; 39(5):631-9. PMID: 2878610.
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    113. Martinez G, Ferreira R, Hernandez A, Di Rienzo A, Felicetti L, Colombo B. Molecular characterization of HbH disease in the Cuban population. Hum Genet. 1986 Apr; 72(4):318-9. PMID: 3009300.
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    114. Martinez G, Ferreira R, Hernandez A, Di Rienzo A, Colombo B. Association of Hb H disease with sickle-trait. Hemoglobin. 1986; 10(4):421-5. PMID: 3744872.
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    115. Di Rienzo A, Felicetti L, Novelletto A, Forteleoni G, Colombo B. Frequency and types of deletional alpha+-thalassemia in northern Sardinia. Hum Genet. 1985; 71(2):147-9. PMID: 2995236.
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