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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.
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    Collapse Biography 
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    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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    R01HL119577     (DI RIENZO, ANNA)Apr 1, 2014 - Feb 28, 2025
    NIH
    Functional Genomics of Tibetan Adaptations
    Role: Principal Investigator
    R01GM101682     (DI RIENZO, ANNA)May 1, 2012 - Nov 30, 2017
    NIH
    Evolutionary genomics of the vitamin D pathway in humans - Resubmission 01
    Role: Principal Investigator
    R01GM079558     (DI RIENZO, ANNA)Mar 1, 2007 - Feb 28, 2012
    NIH
    Local Adaptations in Humans
    Role: Principal Investigator
    R01DK056670     (DI RIENZO, ANNA)Feb 1, 2001 - Dec 31, 2011
    NIH
    Evolutionary Genetics of the Metabolic Syndrome
    Role: Principal Investigator
    R01HG002098     (DI RIENZO, ANNA)May 1, 1999 - Apr 30, 2003
    NIH
    LINKAGE DISEQUILIBRIUM IN THE HUMAN GENOME
    Role: Principal Investigator

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    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.
    Newest   |   Oldest   |   Most Cited   |   Most Discussed   |   Timeline   |   Field Summary   |   Plain Text
    PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
    1. Gray OA, Witonsky DB, Jousma J, Sobreira DR, Van Alstyne A, Huang RT, Fang Y, Di Rienzo A. Transcriptomic analysis of iPSC-derived endothelium reveals adaptations to high altitude hypoxia in energy metabolism and inflammation. PLoS Genet. 2025 Feb; 21(2):e1011570. PMID: 39928692; PMCID: PMC11809796.
      Citations:    Fields:    
    2. Gray OA, Yoo J, Jousma J, Witonsky D, Sakabe NJ, Peng YJ, Prabhakar NR, Fang Y, Di Rienzo A, Sobreira DR, Nobréga MA. A pleiotropic hypoxia-sensitive EPAS1 enhancer is disrupted by adaptive alleles in Tibetans. Sci Adv. 2022 Nov 25; 8(47):eade1942. PMID: 36417539; PMCID: PMC9683707.
      Citations: 10     Fields:    
    3. Lewis ACF, Molina SJ, Appelbaum PS, Dauda B, Di Rienzo A, Fuentes A, Fullerton SM, Garrison NA, Ghosh N, Hammonds EM, Jones DS, Kenny EE, Kraft P, Lee SS, Mauro M, Novembre J, Panofsky A, Sohail M, Neale BM, Allen DS. Getting genetic ancestry right for science and society. Science. 2022 04 15; 376(6590):250-252. PMID: 35420968; PMCID: PMC10135340.
      Citations: 67     Fields:    
    4. Liu CC, Witonsky D, Gosling A, Lee JH, Ringbauer H, Hagan R, Patel N, Stahl R, Novembre J, Aldenderfer M, Warinner C, Di Rienzo A, Jeong C. Ancient genomes from the Himalayas illuminate the genetic history of Tibetans and their Tibeto-Burman speaking neighbors. Nat Commun. 2022 03 08; 13(1):1203. PMID: 35260549; PMCID: PMC8904508.
      Citations: 17     Fields:    Translation:Humans
    5. 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; PMCID: PMC6408616.
      Citations: 5     Fields:    Translation:Humans
    6. 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; PMCID: PMC6275533.
      Citations: 42     Fields:    Translation:HumansCells
    7. Lindo J, Haas R, Hofman C, Watson JT, Viviano Llave C, Witonsky D, Beall C, Warinner C, Novembre J, Aldenderfer M, Di Rienzo A, Apata M, Moraga M, Verdugo RA. The genetic prehistory of the Andean highlands 7000 years BP though European contact. Sci Adv. 2018 11; 4(11):eaau4921. PMID: 30417096; PMCID: PMC6224175.
      Citations: 52     Fields:    Translation:Humans
    8. 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; PMCID: PMC6143271.
      Citations: 35     Fields:    Translation:Humans
    9. 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; PMCID: PMC5686152.
      Citations: 8     Fields:    Translation:Humans
    10. 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; PMCID: PMC5552323.
      Citations:    Fields:    
    11. 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; PMCID: PMC5407838.
      Citations: 13     Fields:    Translation:Humans
    12. 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; PMCID: PMC5442430.
      Citations: 15     
    13. 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; PMCID: PMC5642973.
      Citations: 10     Fields:    Translation:HumansCells
    14. 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; PMCID: PMC5248489.
      Citations: 14     Fields:    Translation:HumansCells
    15. 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.
      Citations:    Fields:    Translation:Humans
    16. 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, Spence JP, Song YS, Balloux F, van Driem G, de Knijff P, Romero IG, Jha AR, Behar DM, 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, Villems R, Henn BM, Hodoglugil U, Mahley R, Sajantila A, Stamatoyannopoulos G, Wee JT, Khusainova R, Khusnutdinova E, Litvinov S, Ayodo G, Hammer MF, Kivisild T, Klitz W, Winkler CA, Bamshad M, Jorde LB, Tishkoff SA, Watkins WS, Metspalu M, Dryomov S, Sukernik R, Singh L, Thangaraj K, Kelso J, Patterson N, Reich D, Gallo C, Poletti G, Bravi CM, Parik J, Comas D, Labuda D, Pääbo S. The Simons Genome Diversity Project: 300 genomes from 142 diverse populations. Nature. 2016 Oct 13; 538(7624):201-206. PMID: 27654912; PMCID: PMC5161557.
      Citations: 624     Fields:    Translation:HumansAnimals
    17. 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; PMCID: PMC4959717.
      Citations: 9     Fields:    Translation:HumansCells
    18. Jeong C, Ozga AT, Witonsky DB, Edlund H, Hofman CA, Hagan RW, Jakobsson M, Lewis CM, Aldenderfer MS, Di Rienzo A, Warinner C, Malmström H. 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; PMCID: PMC4941446.
      Citations: 62     Fields:    Translation:Humans
    19. 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; PMCID: PMC4856085.
      Citations: 3     Fields:    Translation:HumansCells
    20. 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; PMCID: PMC5009997.
      Citations: 15     Fields:    Translation:Humans
    21. 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; PMCID: PMC4701090.
      Citations: 11     Fields:    Translation:Humans
    22. 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; PMCID: PMC4685036.
      Citations: 36     Fields:    Translation:Humans
    23. 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, Capelli C, Hervig T, Wee JT, Tyler-Smith C, van Driem G, Romero IG, Jha AR, Karachanak-Yankova S, Toncheva D, Henn B, Kivisild T, Ruiz-Linares A, Sajantila A, Metspalu E, Villems R, Starikovskaya EB, Ayodo G, Beall CM, Di Rienzo A, Hammer MF, Khusainova R, Khusnutdinova E, Klitz W, Winkler C, Metspalu M, Tishkoff SA, Dryomov S, Sukernik R, Patterson N, Reich D, Eichler EE, Bravi CM, Comas D, Parik J, Labuda D. Global diversity, population stratification, and selection of human copy-number variation. Science. 2015 09 11; 349(6253):aab3761. PMID: 26249230; PMCID: PMC4568308.
      Citations: 184     Fields:    Translation:HumansAnimals
    24. Alkorta-Aranburu G, Linde Forsberg C, Morrell JM, Di Rienzo A, Muñoz-Fuentes V, Marcet-Ortega M, Manzano-Piedras E, Söderberg A, Daniel K, Villalba A, Toth 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; PMCID: PMC4298180.
      Citations: 22     Fields:    Translation:AnimalsCells
    25. 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; PMCID: PMC4122588.
      Citations:    Fields:    Translation:Humans
    26. Jeong C, Di Rienzo A. Adaptations to local environments in modern human populations. Curr Opin Genet Dev. 2014 Dec; 29:1-8. PMID: 25129844; PMCID: PMC4258478.
      Citations: 35     Fields:    Translation:Humans
    27. 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; PMCID: PMC4648270.
      Citations: 7     Fields:    Translation:HumansCells
    28. 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; PMCID: PMC3971831.
      Citations: 16     Fields:    Translation:Humans
    29. 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; PMCID: PMC4643256.
      Citations: 99     Fields:    Translation:Humans
    30. 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; PMCID: PMC4291228.
      Citations: 5     Fields:    Translation:Humans
    31. Glubb D, Evans P, Berenguer-Llergo A, Etheridge AS, Skol AD, Di Rienzo A, Duan S, Gamazon ER, Innocenti F, Paré-Brunet L. Discovery and functional assessment of gene variants in the vascular endothelial growth factor pathway. Hum Mutat. 2014 Feb; 35(2):227-35. PMID: 24186849; PMCID: PMC3935516.
      Citations: 10     Fields:    Translation:HumansCells
    32. 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; PMCID: PMC3792986.
      Citations: 4     Fields:    Translation:HumansCells
    33. 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; PMCID: PMC3791266.
      Citations: 17     Fields:    Translation:HumansCells
    34. 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; PMCID: PMC3772503.
      Citations: 9     Fields:    Translation:Humans
    35. 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; PMCID: PMC3640037.
      Citations: 12     Fields:    Translation:HumansCells
    36. 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; PMCID: PMC3544895.
      Citations: 5     Fields:    Translation:HumansAnimals
    37. 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.
      Citations:    Fields:    Translation:HumansCells
    38. 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; PMCID: PMC3516565.
      Citations: 102     Fields:    Translation:HumansCells
    39. Reich D, Patterson N, Campbell D, Tandon A, Ray N, Parra MV, Rojas W, Duque C, Mesa N, Triana O, Blair S, Maestre A, Dib JC, Bravi CM, Bailliet G, Corach D, Salzano FM, Aguilar-Salinas C, Canizales-Quinteros S, Riba L, Canto-Cetina T, Silva-Zolezzi I, Fernandez-Lopez JC, Contreras AV, Jimenez-Sanchez G, Molina J, Carracedo A, Salas A, Gallo C, Poletti G, Witonsky DB, Alkorta-Aranburu G, Sukernik RI, Osipova L, Fedorova SA, 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, Mazieres S, García LF, Hünemeier T, Bortolini MC, Petzl-Erler ML, Acuña-Alonzo V, Tusié-Luna T, Rodríguez-Cruz M, Lopez-Alarcón M, Coral-Vazquez R, Gómez-Vázquez MJ, Vasquez R, Ruiz-Linares A. Reconstructing Native American population history. Nature. 2012 Aug 16; 488(7411):370-4. PMID: 22801491; PMCID: PMC3615710.
      Citations: 319     Fields:    Translation:Humans
    40. 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.
      Citations: 7     Fields:    Translation:HumansAnimals
    41. 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; PMCID: PMC3774530.
      Citations: 19     Fields:    Translation:HumansCells
    42. Di Rienzo A, Muñoz-Fuentes V, 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; PMCID: PMC3213085.
      Citations: 44     Fields:    Translation:HumansAnimalsCells
    43. 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; PMCID: PMC3268011.
      Citations: 1     Fields:    Translation:Humans
    44. 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; PMCID: PMC3131293.
      Citations: 66     Fields:    Translation:HumansCells
    45. 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; PMCID: PMC4478588.
      Citations: 20     Fields:    Translation:Humans
    46. 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; PMCID: PMC3129251.
      Citations: 23     Fields:    Translation:Humans
    47. 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; PMCID: PMC3080864.
      Citations: 129     Fields:    Translation:Humans
    48. 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; PMCID: PMC3105206.
      Citations: 8     Fields:    Translation:HumansCells
    49. 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; PMCID: PMC4643740.
      Citations: 5     Fields:    Translation:HumansCells
    50. 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; PMCID: PMC3063984.
      Citations: 17     Fields:    Translation:HumansCells
    51. 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; PMCID: PMC2965758.
      Citations: 9     Fields:    Translation:HumansCells
    52. Pritchard JK, Di Rienzo A. Adaptation - not by sweeps alone. Nat Rev Genet. 2010 Oct; 11(10):665-7. PMID: 20838407; PMCID: PMC4652788.
      Citations: 193     Fields:    Translation:HumansAnimals
    53. 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; PMCID: PMC3002247.
      Citations: 29     Fields:    Translation:Humans
    54. 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; PMCID: PMC2935101.
      Citations: 63     Fields:    Translation:Humans
    55. Luca F, Perry GH, Di Rienzo A. Evolutionary adaptations to dietary changes. Annu Rev Nutr. 2010 Aug 21; 30:291-314. PMID: 20420525; PMCID: PMC4163920.
      Citations: 77     Fields:    Translation:HumansAnimals
    56. 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; PMCID: PMC2927766.
      Citations: 261     Fields:    Translation:HumansAnimals
    57. 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; PMCID: PMC3024024.
      Citations: 117     Fields:    Translation:HumansAnimals
    58. 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; PMCID: PMC2831800.
      Citations: 12     Fields:    Translation:Humans
    59. 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; PMCID: PMC2922057.
      Citations: 21     Fields:    Translation:HumansCells
    60. 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; PMCID: PMC3989104.
      Citations: 96     Fields:    Translation:HumansAnimals
    61. 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; PMCID: PMC2679193.
      Citations: 22     Fields:    Translation:HumansCells
    62. 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; PMCID: PMC2724650.
      Citations: 3     Fields:    Translation:HumansCells
    63. Sun C, Di Rienzo A. UGT2B7 is not expressed in normal breast. Breast Cancer Res Treat. 2009 Sep; 117(1):225-6. PMID: 19116784; PMCID: PMC2921443.
      Citations: 1     Fields:    Translation:Humans
    64. 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; PMCID: PMC2754748.
      Citations: 11     Fields:    Translation:HumansCells
    65. 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; PMCID: PMC2267478.
      Citations: 21     Fields:    Translation:Humans
    66. 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; PMCID: PMC2242814.
      Citations: 132     Fields:    Translation:Humans
    67. 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; PMCID: PMC4384416.
      Citations: 16     Fields:    Translation:Humans
    68. 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; PMCID: PMC1800598.
      Citations: 7     Fields:    Translation:HumansAnimalsCells
    69. 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.
      Citations: 12     Fields:    Translation:HumansAnimalsCells
    70. Di Rienzo A. Population genetics models of common diseases. Curr Opin Genet Dev. 2006 Dec; 16(6):630-6. PMID: 17055247.
      Citations: 35     Fields:    Translation:Humans
    71. 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; PMCID: PMC1698701.
      Citations: 59     Fields:    Translation:Humans
    72. 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.
      Citations: 16     Fields:    Translation:HumansAnimalsCells
    73. 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.
      Citations: 14     Fields:    Translation:HumansAnimalsCells
    74. 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; PMCID: PMC1311907.
      Citations: 137     Fields:    Translation:Humans
    75. 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.
      Citations: 97     Fields:    Translation:Humans
    76. 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; PMCID: PMC3525124.
      Citations: 5     Fields:    Translation:HumansAnimals
    77. 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.
      Citations: 3     Fields:    Translation:HumansAnimals
    78. 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; PMCID: PMC1199293.
      Citations: 33     Fields:    Translation:Humans
    79. 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; PMCID: PMC1182141.
      Citations: 130     Fields:    Translation:HumansCells
    80. Kreitman M, Di Rienzo A. Balancing claims for balancing selection. Trends Genet. 2004 Jul; 20(7):300-4. PMID: 15219394.
      Citations: 35     Fields:    Translation:HumansAnimals
    81. 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; PMCID: PMC1180398.
      Citations: 44     Fields:    Translation:HumansAnimalsCells
    82. Innocenti F, Grimsley C, Das S, Cheng C, Kuttab-Boulos H, Ratain MJ, Di Rienzo A, Ramírez J. Haplotype structure of the UDP-glucuronosyltransferase 1A1 promoter in different ethnic groups. Pharmacogenetics. 2002 Dec; 12(9):725-33. PMID: 12464801.
      Citations: 37     Fields:    Translation:HumansCells
    83. 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; PMCID: PMC1462170.
      Citations: 50     Fields:    Translation:HumansCells
    84. 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.
      Citations: 5     Fields:    Translation:Humans
    85. 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; PMCID: PMC447588.
      Citations: 44     Fields:    Translation:HumansAnimalsCells
    86. 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; PMCID: PMC419988.
      Citations: 120     Fields:    Translation:Humans
    87. 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; PMCID: PMC1226068.
      Citations: 125     Fields:    Translation:Humans
    88. 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; PMCID: PMC1461767.
      Citations: 42     Fields:    Translation:HumansAnimals
    89. 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.
      Citations: 11     Fields:    Translation:HumansAnimals
    90. 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, Dimitrov D, Hill E, Bradley D, Romano V, Vona G, Demaine A, Papiha S, Triantaphyllidis C, Stefanescu G, Hatina J, Belledi M, Di Rienzo A, Novelletto A, Oppenheim A, Al-Zaheri N, Santachiara-Benerecetti S, Scozari R, Torroni A, Bandelt HJ, Gölge M, Calì F, Nørby S. Tracing European founder lineages in the Near Eastern mtDNA pool. Am J Hum Genet. 2000 Nov; 67(5):1251-76. PMID: 11032788; PMCID: PMC1288566.
      Citations: 254     Fields:    Translation:Humans
    91. Przeworski M, Hudson RR, Di Rienzo A. Adjusting the focus on human variation. Trends Genet. 2000 Jul; 16(7):296-302. PMID: 10858659.
      Citations: 78     Fields:    Translation:Humans
    92. 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; PMCID: PMC1378024.
      Citations: 143     Fields:    Translation:HumansAnimalsCells
    93. 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; PMCID: PMC1461043.
      Citations: 12     Fields:    Translation:HumansCells
    94. 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.
      Citations: 35     Fields:    Translation:HumansAnimalsCells
    95. Iyer L, Hall D, Das S, Mortell MA, Kim S, Di Rienzo A, Ratain MJ, Ramírez J. 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.
      Citations: 83     Fields:    Translation:HumansCells
    96. Krings M, Salem AE, Bauer K, Geisert H, Malek AK, Chaix L, Simon C, Welsby D, Di Rienzo A, Utermann G, Sajantila A, Stoneking M, Pääbo S. 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; PMCID: PMC1377841.
      Citations: 45     Fields:    Translation:Humans
    97. 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.
      Citations: 77     Fields:    Translation:Humans
    98. 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.
      Citations:    Fields:    Translation:HumansPHPublic Health
    99. 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; PMCID: PMC1460025.
      Citations: 41     Fields:    Translation:HumansCells
    100. Di Rienzo A, Peterson AC, Freimer NB. Amplification with arbitrary primers. Methods Mol Biol. 1996; 54:123-9. PMID: 8597783.
      Citations: 2     Fields:    Translation:Cells
    101. 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.
      Citations: 20     Fields:    Translation:HumansCells
    102. 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; PMCID: PMC43536.
      Citations: 352     Fields:    Translation:HumansCells
    103. 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.
      Citations: 5     Fields:    Translation:HumansAnimalsCells
    104. 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.
      Citations: 50     Fields:    Translation:HumansAnimals
    105. 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.
      Citations:    Fields:    Translation:HumansCells
    106. 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; PMCID: PMC51071.
      Citations: 96     Fields:    Translation:HumansAnimalsCells
    107. 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; PMCID: PMC1683029.
      Citations: 29     Fields:    Translation:AnimalsCells
    108. Hafez M, Deidda G, Di Rienzo A, Felicetti L, el-Tahan H, el Morsi Z, el-Ziny M, al-Tonbary Y, Sittien A, Novelletto A, et al. Molecular characterization of beta-thalassemia mutations in Egypt. Hum Genet. 1990 Aug; 85(3):272-4. PMID: 1975554.
      Citations: 7     Fields:    Translation:HumansCells
    109. 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.
      Citations:    Fields:    Translation:Humans
    110. Morace G, Bisanti L, Di Rienzo AM, Ciccaglione AR, Bekura D, Pasquini P, Rossi GB, Rapicetta M, Hailù K. 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.
      Citations: 4     Fields:    Translation:HumansCells
    111. 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.
      Citations: 6     Fields:    Translation:Humans
    112. Hafez M, Di Rienzo A, Felicetti L, Deidda G, el Morsi Z, al-Tonbary Y, el-Ziny M, Abd-el-Gelil N, Terrenato L, Novelletto A. Frequency and molecular types of deletional alpha-thalassemia in Egypt. Hum Genet. 1989 Feb; 81(3):211-3. PMID: 2537793.
      Citations: 1     Fields:    Translation:Humans
    113. 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.
      Citations: 9     Fields:    Translation:HumansPHPublic Health
    114. 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.
      Citations:    Fields:    Translation:Humans
    115. 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.
      Citations:    Fields:    Translation:HumansCells
    116. Di Rienzo A, Novelletto A, Bianco I, Tagarelli A, Brancati C, Colombo B, Felicetti L, Aliquò MC. 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; PMCID: PMC1684059.
      Citations: 3     Fields:    Translation:HumansCellsPHPublic Health
    117. 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.
      Citations:    Fields:    Translation:HumansCells
    118. 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.
      Citations: 1     Fields:    Translation:Humans
    119. 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.
      Citations: 7     Fields:    Translation:Humans
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