Previous Publications

IN PEER-REVIEWED JOURNALS

Vargas-Pinilla P, Paixão-Côrtes VR, Paré P, Tovo-Rodrigues L, Vieira CM, Xavier A, Comas D, Pissinatti A, Sinigaglia M, Rigo MM, Vieira GF, Lucion AB, Salzano FM, Bortolini MC (2015) Evolutionary pattern in the OXT-OXTR system in primates: coevolution and positive selection footprints. Proceedings of the National Academy of Sciences USA 112:88-93. Vargas-Pinilla2015

Dobon B, Hassan HY, Laayouni H, Luisi P, Ricaño-Ponce I, Zhernakova A, Wijmenga C, Tahir H, Comas D, Netea MG, Bertranpetit J (2015). The genetics of East African populations: a Nilo-Saharan component in the African genetic landscape. Scientific Reports 5:9996. Dobon2015

Solé-Morata N, Bertranpetit J, Comas D, Calafell F (2015) Y chromosome in Catalan surname samples: insights into surname origin and frequency. European Journal of Human Genetics 23:1549-1557. Solé-Morata2015

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 JTS, Tyler-Smith C, van Driem G, Gallego Romero I, 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 M, Khusainova R, Khusnutdinova E, Klitz W, Winkler C, Labuda D, Metspalu M, Tishkoff SA, Dryomov S, Sukernik R, Patterson N, Reich D, Eichler EE (2015) Global diversity, population stratification, and selection of human copy number variation. Science 349(6253):aab3761.3

Bekada A, Arauna LR, Deba T, Calafell F, Benhamamouch S, Comas D (2015) Genetic heterogeneity in Algerian human populations. PLoS ONE 10(9):e0138453. Bekada2015

Bilgin Sonay T, Carvalho T, Robinson M, Greminger M, Krutzen M, Comas D, Highnam G, Mittelman DA, Sharp AJ, Marques-Bonet T, Wagner A (2015). Tandem repeat variation in human and great ape populations and its impact on gene expression divergence. Genome Res 25:1591-1599.

Alves JM, Lima AC, Pais IA, Amir N, Celestino R, Piras G, Monne M, Comas D, Heutink P, Chikhi L, Amorim A, Lopes AM (2015). Reassessing the evolutionary history of the 17q21 inversion polymorphism. Genome Biol Evol 7:3239-3248. Alves2015

Engelken J+, Carnero-Montoro E+, Pybus M, Andrews GK, Lalueza-Fox C, Comas D, Sekler I, de la Rasilla M, Rosas A, Stoneking M, Valverde MA, Vicente R*, Bosch E* (2014) Extreme population differences in the human zinc transporter ZIP4(SLC39A4) are explained by positive selection in sub-Saharan Africa. PLoS Genet 10(2) e1004128. Engelken2014

Elhaik E, Tatarinova T, Chebotarev D, Piras IS, Calo CM, De Montis A, Atzori M, Marini M, Tofanelli S, Francalacci P, Pagani L, Tyler-Smith C, Xue Y, Cucca F, Schurr TG, Gaieski JB, Melendez C, Vilar MG, Owings AC, Gomez R, Fujita R, Santos FR, Comas D, Balanovsky O, Balanovska E, Zalloua P, Soodyall H, Pitchappan R, ArunKuma GP, Hammer M, Matisoo-Smith L, Wells SR, The Genographic Consortium (2014) Geographic Population Structure of worldwide human populations infers biogeographical origin. Nature Communications 5:3513. Elhaik2014

Solé-Morata N, Bertranpetit J, Comas D, Calafell F (2014) Recent radiation of R-M269 and high Y-STR haplotype resemblance confirmed. Ann Hum Genet 78:253-254. Sole-Morata2014

Ballantyne KN, Ralf A, Aboukhalid R, Achakzai NM, Anjos MJ, Ayub Q, Balažic J, Ballantyne J, Ballard DJ, Berger B, Bobillo C, Bouabdellah M, Burri H, Capal T, Caratti S, Cárdenas J, Cartault F, Carvalho EF, Carvalho M, Cheng B, Coble MD, Comas D, Corach D, D’Amato ME, Davison S, de Knijff P, De Ungria MC, Decorte R, Dobosz T, Dupuy BM, Elmrghni S, Gliwiński M, Gomes SC, Grol L, Haas C, Hanson E, Henke J, Henke L, Herrera-Rodríguez F, Hill CR, Holmlund G, Honda K, Immel UD, Inokuchi S, Jobling MA, Kaddura M, Kim JS, Kim SH, Kim W, King TE, Klausriegler E, Kling D, Kovačević L, Kovatsi L, Krajewski P, Kravchenko S, Larmuseau MH, Lee EY, Lessig R, Livshits LA, Marjanović D, Minarik M, Mizuno N, Moreira H, Morling N, Mukherjee M, Munier P, Nagaraju J, Neuhuber F, Nie S, Nilasitsataporn P, Nishi T, Oh HH, Olofsson J, Onofri V, Palo JU, Pamjav H, Parson W, Petlach M, Phillips C, Ploski R, Prasad SP, Primorac D, Purnomo GA, Purps J, Rangel-Villalobos H, Rębała K, Rerkamnuaychoke B, Gonzalez DR, Robino C, Roewer L, Rosa A, Sajantila A, Sala A, Salvador JM, Sanz P, Schmitt C, Sharma AK, Silva DA, Shin KJ, Sijen T, Sirker M, Siváková D, Skaro V, Solano-Matamoros C, Souto L, Stenzl V, Sudoyo H, Court DS, Tagliabracci A, Taylor D, Tillmar A, Tsybovsky IS, Tyler-Smith C, van der Gaag KJ, Vanek D, Völgyi A, Ward D, Willemse P, Yap EP, Yong RY, Pajnič IZ, Kayser M (2014) Towards male individualization with rapidly mutating Y-chromosomal STRs. Hum Mutat 35(8):1021-1032. Ballantyne2014

Lazaridis I,Patterson N, Mittnik A, Renaud G, Mallick S, Kirsanow K, Sudmant PH, Schraiber JG, CastellanoS, Lipson M, Berger B, Economou C, Bollongino R,Fu Q,Bos KI, Nordenfelt S, Li H, de Filippo C, Prüfer K,Sawyer S, Posth C, Haak W, Hallgren F, Fornander E, Rohland N, Delsate D, Francken M, Guinet JM, Wahl J, Ayodo G, Babiker HA, Bailliet G, Balanovska E, Balanovsky O, Barrantes R, Bedoya G, Ben-Ami H, Bene J, Berrada F,Bravi CM, Brisighelli F, Busby G, Cali F,Churnosov M, Cole DEC, Corach D, Damba L, van Driem G, Dryomov S, Dugoujon JM, Fedorova SA, Gallego Romero I, Gubina M,  Hammer M, Henn B, Hervig T, Hodoglugil U, Jha AR, Karachanak-Yankova S, Khusainova R, Khusnutdinova E, Kittles R, Kivisild T, Klitz W, Kučinskas V, Kushniarevich A, Laredj L, Litvinov S, Loukidis T, Mahley RW, Melegh B, Metspalu E, Molina J, Mountain J, Näkkäläjärvi K, Nesheva D, Nyambo T,Osipova L, Parik J, Platonov F, Posukh O, Romano V, Rothhammer F, Rudan I, Ruizbakiev R, Sahakyan H, Sajantila A, Salas A, Starikovskaya EB, Tarekegn A, Toncheva D, Turdikulova S, Uktveryte I, Utevska O, Vasquez R, Villena M, Voevoda M, Winkler C, Yepiskoposyan L, Zalloua P, Zemunik T, Cooper A, Capelli C, Thomas MG, Ruiz-Linares A, Tishkoff SA, Singh L, Thangaraj K, Villems R, Comas D, Sukernik R, Metspalu M, Meyer M, Eichler  E, Burger J, Slatkin M, Pääbo S, Kelso J, Reich D, Krause J (2014) Ancient human genomes suggest three ancestral populations for present-day Europeans. Nature 513:409-413.

Prieto L, Alves C, Zimmermann B, Tagliabracci A, Prieto V, Montesino M, Whittle MR, Anjos MJ, Cardoso S, Heinrichs B, Hernandez A, López-Parra AM, Sala A, Saragoni VG, Burgos G, Marino M, Paredes M, Mora-Torres CA, Angulo R, Chemale G, Vullo C, Sánchez-Simón M, Comas D, Puente J, López-Cubría CM, Modesti N, Aler M, Merigioli S, Betancor E, Pedrosa S, Plaza G, Masciovecchio MV, Schneider PM, Parson W(2013) GHEP-ISFG proficiency test 2011: Paper challenge on evaluation of mitochondrial DNA results. Forensic Science International Genetics 7(1):10-15. Prieto2013

Haber M, Gauguier D, Youhanna S, Patterson N, Moorjani P, Botigué LR, Platt DE, Matisoo-Smith E, Soria-Hernanz DF, Wells S, Bertranpetit J, Tyler-Smith C, Comas D*, Zalloua PA* (2013) Genome-wide diversity in the Levant reveals recent structuring by culture. PLoS Genetics 9(2)e1003316. Haber2013

Rebala K, Martínez-Cruz B, Tönjes A, Kovacs P, Stumvoll M, Lindner I, Büttner A, Wichmann H-E, Siváková D, Soták M, Quintana-Murci L, Szczerkowska Z, Comas D, the Genographic Consortium (2013) Contemporary paternal genetic landscape of Polish and German populations: from early medieval Slavic expansion to post-World War II resettlements. European Journal of Human Genetics 21:415-422. Rebala2013

Montano V, Marcari V, Pavanello M, Anyaele O, Comas D, Destro-Bisol G, Batini C (2013) The influence of different hábitats on the distribution of human genetic variation is revealed by the patterns of female migration in Central and Western Africa. BMC Evolutionary Biology 13:4. Montano2013

Boattini A*, Martinez-Cruz B*, Sarno S, Harmant C, Useli A, Sanz P, Yang-Yao D, Manry J, Ciani G, Luiselli D, Quintana-Murci L, Comas D*, Pettener D*, the Genographic Consortium (2013) Uniparental markers in Italy reveal a sex-biased genetic structure and different historical strata. PLoS ONE 8(5) e65441. Boattini2013

Botigué LR, Henn BM, Gravel S, Maples BK, Gignoux CR, Corona E, Atzmon G, Burns E, Ostrer H, Flores C, Bertranpetit J, Comas D*, Bustamante CD* (2013) Gene flow from North Africa contributes to differential human genetic diversity in Southern Europe. Proceedings of the National Academy of Sciences USA 110:11791-11796. Botigue2013

Prado-Martinez J, Sudmant PH, Kidd JM, Li H, Kelley JL, Lorente-Galdos B, Veeramah KR, Woerner AE, O’Connor TD, Santpere G, Cagan A, Theunert C, Casals F, Laayouni H, Munch K, Hobolth A, Halager AE, Malig M, Hernandez-Rodriguez J, Hernando-Herraez I, Prüfer K, Pybus M, Johnstone L, Lachmann M, Alkan C, Twigg D, Petit N, Baker C, Hormozdiari F, Fernandez-Callejo M, Dabad M, Wilson ML, Stevison L, Camprubí C, Carvalho T, Ruiz-Herrera A, Vives L, Mele M, Abello T, Kondova I, Bontrop RE, Pusey A, Lankester F, Kiyang JA, Bergl RA, Lonsdorf E, Myers S, Ventura M, Gagneux P, Comas D, Siegismund H, Blanc J, Agueda-Calpena L, Gut M, Fulton L, Tishkoff SA, Mullikin JC, Wilson RK, Gut IG, Gonder MK, Ryder OA, Hahn BH, Navarro A, Akey JM, Bertranpetit J, Reich D, Mailund T, Schierup MH, Hvilsom C, Andrés AM, Wall JD, Bustamante CD, Hammer MF, Eichler EE, Marques-Bonet T (2013) Great Ape genetic diversity and population history Nature 499:471-175. http://www.nature.com/nature/journal/v499/n7459/full/nature12228.html

Fadhlaoui-Zid K, Haber M, Martinez-Cruz B, Zalloua P, Elgaaied AB, Comas D (2013) Genome-wide and paternal diversity reveal a recent origin of human populations in North Africa. PLoS ONE 8(11):e80293. FadhlaouiZid2013

Mendizabal I+, Lao O+, Marigorta UM+, Kayser M*, Comas D* (2013) Implications of population history of European Romani in genetic susceptibility to disease. Hum Hered 76:194-200

Henn BM*, Botigué LR*, Gravel S,Wang W, Brisbin A, Byrnes JK, Fadhlaoui-Zid K, Zalloua PA, Moreno-Estrada A, Bertranpetit J, Bustamante CD¤, Comas D¤(2012) Genomic Ancestry of North Africans Supports Back-to-Africa Migrations. PLoS Genetics 8(1) e1002397. Henn2012

Javed A, Melé M, Pybus M, Zalloua P, Haber M, Comas D, Netea MG, Balanovsky O, Balanovska E, Jin L, Yang Y, ArunKumar G, Pitchappan R, Bertranpetit J, Calafell F, Parida L, The Genographic Consortium (2012) Recombination networks as genetic markers in a human variation study of the Old World. Human Genetics 131:601-613. Javed2012

Behar DM, Harmant C, Manry J, van Oven M, Haak W, Martinez-Cruz B, Salaberria J, Oyharçabal B, Bauduer F, Comas D, Quintana-Murci L; The Genographic Consortium (2012) The Basque Paradigm: Genetic Evidence of a Maternal Continuity in the Franco-Cantabrian Region since Pre-Neolithic Times. American Journal of Human Genetics 90:486-493. Behar2012

Haber M, Platt DE, Ashafian Bonab M, Youhanna SC, Soria-Hernanz DF, Martinez-Cruz B, Douaihy B, Ghassibe-Sabbagh M, Rafatpanah H, Ghanbari M, Whale J, Balanovsky O, Well RS, Comas D, Tyler-Smith C, Zalloua PA, the Genographic Consortium (2012) Afghanistan’s ethnic groups share a Y-chromosomal heritage structured by historical events. PLoS ONE 7(3):e34288. Haber2012

Sandoval K, Moreno-Estrada A, Mendizabal I, Underhill PA, Lopez-Valenzuela M, Peñaloza-Espinosa R, López-López M, Buentello-Malo L, Avelino H, Calafell F, Comas D (2012) Y-chromosome diversity in Native Mexicans reveals continental transition of genetic structure in the Americas. American Journal of Physical Anthropology 148:395-405. Sandoval2012

Mendizabal I, Marigorta UM, Lao O, Comas D (2012) Adaptative evolution of loci covarying with the human African Pygmy phenotype. Human Genetics 131:1305-1317. Mendizabal2012

Martinez-Cruz B, Ioana M, Calafell F, Arauna LR, Sanz P, Ionescu R, Boengiu S, Kalaydjieva L, Pamjav H, Makukh H, Plantiga T, van der Meer JWM, Comas D*, Netea M*, the Genographic Consortium (2012) Y-chromosome analysis in individuals bearing the Basarab name of the first dynasty of Wallachian kings. PLoS ONE 7(7): e41803. Martinez-Cruz2012

Martínez-Cruz B, Harmant C, Platt DE, Haak W, Manry J, Ramos-Luis E, Soria-Hernanz DF, Bauduer F, Salaberria J, Oyharçabal B, Quintana-Murci L, Comas D, the Genographic Consortium (2012) Evidence of pre-Roman tribal genetic structure in Basques from uniparentally inherited markers. Molecular Biology and Evolution 29(9):2211-2222. Martinez-Cruz2012

Campbell CL, Palamara PF, Dubrovsky M, Botigué LR, Fellous M, Atzmon G,Oddoux C, Pearlman A, Hao L, Henn BM, Burns E, Bustamante CD, Comas D, Friedman E, Pe’er I, Ostrer H (2012) North African Jewish and non-Jewish populations form distinctive, orthogonal clusters. Proceedings of the National Academy of Sciences USA 109(34):13865-70.Campbell2012

Sánchez-QuintoF, Botigué LR, Civit S, Arenas C, Ávila-Arcos MC, Bustamante CD, Comas D*, Lalueza-Fox C* (2012) North African populations carry the signature of admixture with Neandertals. PLoS ONE 7(10):e47765. Sanchez-Quinto2012

Pimenoff V, Laval G, Comas D, Palo JU, Gut I, Cann H, Excoffier L, Sajantilla A (2012) Similarity in recombination rate and linkage disequilibrium at CYP2C and CYP2D cytochrome P450 gene regions among Europeans indicates signs of selection and no advantage of using tagSNPs in population isolates. Pharmacogenetics and Genomics 22:846-857. Pimenoff2012

Mendizabal I*, Lao O*, Marigorta UM, Wollstein A, Gusmão L, Ferak V, Ioana M, Jordanova A, Kaneva R, Kouvatsi A, Kučinskas V, Makukh H, Metspalu A, Netea MG, de Pablo R, Pamjav H, Radojkovic D, Rolleston SJ, Sertic J, Macek M Jr, Comas D*, Kayser M* (2012) Reconstructing population history of European Romani from genome-wide data. Current Biology 22:2342-2349. Mendizabal2012

Setó-Salvia N, Sánchez-Quinto F, Carbonell E, Lorenzo C, Comas D, Clarimón J (2013) Using the Neandertal and Denisova genetic data to understand the common MAPT 17q21 inversion in modern humans. Human Biology 84:633-640.

Sikora M, Laayouni H, Calafell F, Comas D, Bertranpetit J (2011) A genomic analysis identifies a novel component in the genetic structure of sub-Saharan African populations. European Journal of Human Genetics 19:84-88. Sikora2011

Mendizabal I, Valente C, Gusmão A, Alves C, Gomes V, Goios A, Parson W, Calafell F, Alvarez L, Amorim A, Gusmão L, Comas D, Prata MJ (2011) Reconstructing the Indian origin and dispersal of the European Roma: a maternal genetic perspective. PLoS ONE 6(1):e15988. Mendizabal2011

Batini C, Lopes J, Behar DM, Calafell F,Jorde LB, van der Veen L, Quintana-Murci L, Spedini G, Destro-Bisol G, Comas D (2011) Insights into the demographic history of African Pygmies from complete mitochondrial genomes. Molecular Biology and Evolution 28:1099-110. Batini2011

Fadhlaoui-Zid K, Rodríguez-Botigué L, Naoui N, Benammar-Elgaaied A, Calafell F, Comas D (2011) Mitochondrial DNA structure in North Africa reveals a genetic discontinuity in the Nile Valley. American Journal of Physical Anthropology 145:107-117. Fadhlaoui-Zid2011

Henn BM, Gignoux CR, Jobin M, Granka JM, Macpherson JM, Kidd JM, Rodríguez-Botigué L, Ramachandran S, Hon L, Brisbin A, Lin AA, Underhill P, Comas D, Kidd KK, Parham P, Norman PJ, Bustamante CD, Mountain JL, Feldman MW (2011) African Hunter-Gatherer Populations Maintain the Highest Levels of Human Genomic Diversity. Proceedings of the National Academy of Sciences USA 108:5154-5162. Henn2011

Laayouni H, Montanucci L, Sikora M, Mele M, Dall’Olio GM, Lorente-Galdos B, McGee KM, Graffelman J, Awadalla P, Bosch E, Comas D, Navarro A, Calafell F, Casals F, Bertranpetit J (2011) Similarity in recombination rate estimates highly correlates with genetic differentiation in humans. PLoS ONE 6(3):e17913. Laayouni2011

Montano M,  Ferri G, Marcari V, Batini C, Anayale O, Destro-Bisol G, Comas D (2011) The Bantu expansion revisited: a new analysis of Y chromosome variation in Central Western Africa. Molecular Ecology 20:2693-2708. Montano2011

Batini C, Ferri G, Destro-Bisol G, Brisighelli F, Luiselli D, Sanchez-Diz P, Rocha J, Jorde LB, Brehm A, Montano V, Elwali NE, Spedini G, D’amato ME, Myres N, Ebbesen P, Comas D, Capelli C (2011) Early Y chromosome lineages in Africa: the origin and dispersal of Homo sapiens. Molecular Biology and Evolution 28:2603-2613. Batini2011b

Putku M, Kepp K, Org E, Sober S, Comas D, Viigimaa M, Veldre G, Juhanson P, Hallast P, Tonisson N, HYPEST, Shaw-Hawkins S, Caulfield MJ, BRIGHT, Khusnutdinova E, Kozich V, Munroe PB, Laan M (2011) Novel polymorphic AluYb8 insertion in the WNK1 gene, involved in blood pressure regulation. Human Mutation 32:806-814. Putku2011

Martínez-Cruz B, Ziegle J, Sanz P, Sotelo G, Anglada R, Plaza S, Comas D, the Genographic Consortium (2011) Multiplex screening of the human Y chromosome using TaqMan probes. Investigative Genetics 2:13. Martinez-Cruz2011

Fadhlaoui-Zid K, Martínez-Cruz B, Khodjet-el-hkil H, Mendizabal I, Benammar-Elgaaied A, Comas D (2011) Genetic structure of Tunisian ethnic groups revealed by paternal lineages. American Journal of Physical Anthropology 146:271-280. FadhlaouiZid2011b

Viviani R, Sim EJ, Lo H, Beschoner P, Osterfeld N, Maier C, Seeringer A, Godoy AL, Rosa A, Comas D, Kirchheiner J (2010) Baseline brain perfusion and the serotonin transporter promoter polymorphism. Biol Psychiatry 67(4):317-22. Viviani2010

Donnelly MP, Paschou P, Grigorenko E, Gurwitz D, Mehdi SQ, Kajuna SL, Barta C, Kungulilo S, Karoma NJ, Lu RB, Zhukova OV, Kim JJ, Comas D, Siniscalco M, New M, Li P, Li H, Manolopoulos VG, Speed WC, Rajeevan H, Pakstis AJ, Kidd JR, Kidd KK (2010) The distribution and most recent common ancestor of the 17q21 inversion in humans. Am J Hum Genet 86(2):161-171. Donnelly2010

Behar DM, Yunusbayev B, Metspatlu M, Metspalu E, Rosset S, Parik J, Rootsi S, Chaubey G, Kutuev I, Yudkovsky G, Khusnutdinova EK, Balanovsky O, Semino O, Pereira L, Comas D, Gurwitz D, Bonne-Tamir B, Parfitt T, Hammer MF, Skorecki K, Villems R (2010) The genome-wide structure of the Jewish people. Nature 466(7303):238-242. Behar2010

Atkinson QD, Barbujani G, Collard M, Comas D, Franceschi C (2010) Interdisciplinary views on Molecular Anthropology in the Genomic Era. Journal of Anthropological Sciences. 88:231-250. Atkinson2010

Lu TT, Lao O, Nothnagel M, Junge O, Freitag-Wolf S, Caliebe A, Balascakova M, Bertranpetit J, Bindoff LA, Comas D, Holmlund G, Kouvatsi A, Macek M, Mollet I, Nielsen F, Parson W, Palo J, Ploski R, Sajantila A, Tagliabracci A, Gether U, Werge T, Rivadeneira F, Hofman A, Uitterlinden AG, Gieger C, Wichmann HE, Ruether A, Schreiber S, Becker C, Nürnberg P, Nelson MR, Kayser M, Krawczak M (2009) An evaluation of the genetic-matched pair study design using genome-wide SNP data from the European population. European Journal of Human Genetics 17:967-975. Lu2009

Berniell-Lee G, Calafell F, Bosch E, Heyer E, Sica L, Mouguiama-Daouda P, van der Veen L, Hombert JM, Quintana-Murci L, Comas D (2009) Genetic and demographic implications of the Bantu expansion: insights from human paternal lineages. Molecular Biology and Evolution 26:1581-1589. Berniell-Lee2009

Sandoval K, Buentello-Malo L, Peñaloza-Espinosa R, Avelino H, Salas A, Calafell F, Comas D (2009) Linguistic and maternal genetic diversity are not correlated in Native Mexicans. Human Genetics 126:521-531. Sandoval2009

Bosch E, Laayouni H, Morcillo-Suarez C, Casals F, Moreno-Estrada A, Ferrer-Admetlla A, Gardner M, Rosa A, Navarro A, Comas D, Graffelman J, Calafell F, Bertranpetit J (2009) Decay of linkage disequilibrium within genes across HGDP-CEPH human samples: most population isolates do not show increased LD. BMC Genomics 10:338. Bosch2009

Enattah NS, Jensen TGK, Nielsen M, Lewinski R, Kuokkanen M, Rasinpera H, El-Shanti H, Seo JK, Alifrangis M, Khalil IF, Natah A, Ali A, Natah S, Comas D, Mehdi SQ, Groop L, Vestergaard EM, Imtiaz F, Rashed MS, Meyer B, Troelsen J, Peltonen L (2008) Independent introduction of two lactase persistence alleles into human populations reflect different history of adaptation to milk culture. American Journal of Human Genetics 82(1):57-72. Enattah2008

Quintana-Murci L, Quach H, Harmant C, Luca F, Massonnet B, Patin E, Sica L, Mauuiama-Daouda P, Comas D, Tzur S, Balanovsky O, Kidd KK, Kidd JR, van der Veen L, Hombert J-M, Gessain A, Verdu P, Froment A, Bahuchet S, Heyer E, Dausset J, Salas A, Behar D (2008) The shared maternal ancestry of Bantu agriculturalists and Pygmy hunter-gatherers of western Central Africa. Proceedings of the National Academy of Sciences USA 105(5):1596-1601. Quintana-Murci2008

Berniell-Lee G, Plaza S, Bosch E, Calafell F, Jourdan E, Lefranc G, Comas D (2008) Admixture and sexual bias in the population settlement of La Reunion Island (Indian Ocean). American Journal of Physical Anthropology 136(1):100-107. Berniell-Lee2008

Colobran R, Comas D, Faner R, Pedrosa E, Anglada R, Pujol-Borrell R, Bertranpetit J, Juan M (2008) Population structure in copy number variation (CNV) and single-nucleotide polymorphisms (SNPs) in the CCL4L gene. Genes and Immunity 9(4):279-288. Colobran2008

Behar DM, Villems R, Soodyall H, Blue-Smith J, Pereira L, Metspalu E, Scozzari R, Makkan H, Comas D, Bertranpetit J, Quintana-Murci L, Tyler-Smith C, Well RS, The Genographic Consortium (2008) The dawn of human matrilineal diversity. American Journal of Human Genetics 82(5):1130-1140. Behar2008

Zalloua PA, Xue Y, Khalife J, Makhoul N, Debiane L, Ptall DE, Royyuru AK, Herrera RJ, Soria-Hernanz DF, Blue-Smith J, Wells RS, Comas D, Bertranpetit J, Tyler-Smith C, The Genographic Consortium (2008) Y-chromosomal diversity in Lebanon is structured by recent historical events. American Journal of Human Genetics 82(4):873-882. Zalloua2008a

Gardner M, Bertranpetit J, Comas D (2008) Worldwide genetic variation and tagSNP transferability in dopamine and serotonin pathway genes. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 147B:1070-1075. Gardner2008

Pimenoff VN, Comas D, Palo JU, Vershubsky G, Kolzov A, Sajantilla A (2008) Northwest Siberian Khanty and Mansi in the junction of West and East Eurasian gene pools as revealed by uniparental markers. European Journal of Human Genetics 16:1254-64. Pimenoff2008

Morcillo-Suarez C, Alegre J, Sangros R, Gazave E, de Cid R, Milne R, Amigo J, Ferrer-Admetlla A, Moreno-Estrada A, Gardner M, Casals F, Perez-Lezaun A, Comas D, Bosch E, Calafell F, Bertranpetit J, Navarro A (2008) SNP Analysis To Results (SNPator): a web-based environment oriented to statistical genomics analyses upon SNP data. Bioinformatics 24(14):1643-4. Morcillo-Suarez2008

Palacios R, Comas D, Elorza J, Villoslada P (2008) Genomic regulation of CTLA4 and Multiple Sclerosis. Journal of Neuroimmunology 203:108-115. Palacios2008

Mendizabal I, Sandoval K, Berniell-Lee G, Calafell F, Salas A, Martinez-Fuentes A, Comas D (2008)  Genetic origin, admixture, and asymmetry in maternal and paternal human lineages in Cuba. BMC Evolutionary Biology 8:213. Mendizabal2008

Lao O, Lu TT, Nothnagel M, Junge O, Freitag-Wolf S, Caliebe A, Balascakova M, Bertranpetit J, Bindoff LA, Comas D, Holmlund G, Kouvatsi A, Macek M, Mollet I, Parson W, Palo J, Ploski R, Sajantila A, Tagliabracci A, Gether U, Werge T, Rivadeneira F, Hofman A, Uitterlinden AG, Gieger C, Wichmann HE, Rüther A, Schreiber S, Becker C, Nürnberg P, Nelson MR, Krawczak M, Kayser M (2008) Correlation between Genetic and Geographic Structure in Europe. Current Biology 18:1241-1248. Lao2008

Zalloua PA, Platt DE,El Sibai M, Khalife J, Makhoul N, Haber M, Xue Y, Izaabel H, Bosch E, Adams SM, Arroyo E, López-Parra AM, Aler M, Picornell A, Ramon M, Jobling MA, Comas D, Bertranpetit J, Wells SR, Tyler-Smith C and The Genographic Consortium (2008) Identifying genetic traces of historical expansions: Phoenician footprints in the Mediterranean. American Journal of Human Genetics 83:633-642. Zalloua2008b

Prieto L, Alonso A, Alves C, Crespillo M, Montesino M, Picornell A, Brehm A, Ramírez JL, Whittle MR, Anjos MJ, Boschi I, Buj J, Cerezo M, Cardoso S, Cicarelli R, Comas D, Corach D, Doutremepuich C, Espinheira RM, Fernández-Fernández I, Filippini S, Garcia-Hirschfeld J, González A, Heinrichs B, Hernández A, Leite FP, Lizarazo RP, López-Parra AM, López-Soto M, Lorente JA, Mechoso B, Navarro I, Pagano S, Pestano JJ, Puente J, Raimondi E, Rodríguez-Quesada A, Terra-Pinheiro MF, Vidal-Rioja L, Vullo C, Salas A (2008) 2006 GEP-ISGP collaborative excercise on mtDNA: reflection about interpretations, artefacts and DNA mixtures. Forensic Sciece International Genetics 2:126-133. Prieto2008

Batini C, Coia V, Battaggia C, Rocha J, Plikington MM, Spedini F, Comas D, Destro-Bisol G, Calafell F (2007) Phylogeography of the human mitochondrial L1c haplogroup: genetic signatures of the prehistory of Central Africa. Molecular Phylogenetics and Evolution 43(2):635-644. Batini2007

Rosa A, Gardner M, Cuesta MJ, Peralta V, Fatjó-Vilas M, Miret S, Navarro E, Comas D, Fañanás L (2007) Family-based association study of neuregulin-1 gene and schizophrenia in a Spanish sample: results suggestive of association at the 3’ end of the gene. American Journal of Medical Genetics 144B:954-957. Rosa2007

Gardner M, Williamson S, Casals F, Bosch E, Navarro A, Calafell F, Bertranpetit J, Comas D (2007) Extreme individual marker FST values do not imply population-specific selection in humans: the NRG1 example. Human Genetics 121(6):759-762. Gardner2007

Berniell-Lee G, Sandoval K, Mendizabal I, Bosch E, Comas D (2007) SNPlexing the human Y chromosome: a single-assay system for major haplogroup screening. Electrophoresis 28(18):3201-3206. Berniell-Lee2007

Behar DM, Rosset S, Blue-Smith J, Balanowsky O, Tzur S, Comas D, Mitchell RJ, Quintana-Murci L, Tyler-Smith C, Wells RS, The Genographic Consortium (2007) The Genographic Project public participation mitocondrial DNA database. PLoS Genetics 3(6):1083-1095. Behar2007

Enattah NS, Trudeau A, Pimenoff V, Maiuri L, Auricchio S, Greco L, Rossi M, Lentze M, Seo JK, Rahgozar S, Khalil I, Alifrangis M, Natah S, Groop L, Shaat N, Kozlov A, Verschubskaya G, Comas D, Bulayeva K, Mehdi SQ, Terwilliger JD, Sahi T, Savilahti E, Perola M, Sajantila A, Järvelä I, Peltonen L (2007) Evidence of still-going convergence evolution of the lactase persistence T-13910 alleles in humans. American Journal of Human Genetics 81:615-625. Enattah2007

Bosch E, Calafell F, González-Neira A, Flaiz C, Mateu E, Scheil H-G, Huckenbeck W, Efremovska L, Mikerezi I, Xirotiris N, Grasa C, Schmidt H, Comas D (2006) Paternal and maternal lineages in the Balkans show a homogeneous landscape over linguistic barriers, except for the isolated Aromuns. Annals of Human Genetics 70:459-487.

González-Neira A, Ke X, Lao O, Calafell F, Navarro A, Comas D, Cann H, Bumpstead S, Ghori J, Hunt S, Deloukas P, Dunham I, Cardon LR, Bertranpetit J (2006) The portability of tagSNPs across populations: a worldwide survey. Genome Research 16:323-330

Gardner M, González-Neira A, Lao O, Calafell F, Bertranpetit J, Comas D (2006) Extreme population differences across Neuregulin 1 gene, with implications for association studies. Molecular Psychiatry 11: 66-75.

Ramírez-Soriano A, Lao O, Soldevila M, Calafell F, Bertranpetit J, Comas D (2005) Haplotype tagging efficiency in worldwide populations in CTLA4 gene. Genes and Immunity 6(8): 646-657.

Coia V, Destro-Bisol G, Verginelli F, Boschi I, Cruciani F, Spedini G, Comas D, Calafell F (2005) MtDNA variation in North Cameroon: lack of Asian lineages and implications for backmigration from Asia to sub-Saharan Africa. American Journal of Physical Anthropology 128(3):678-681.

Sampietro ML, Caramelli D, Lao O, Calafell F, Comas D, Lari M, Agusti B, Bertranpetit J, Lalueza-Fox C (2005) The genetics of the pre-Roman Iberian Peninsula: a mtDNA study of ancient Iberians. Annals of Human Genetics 69(5):535-548.

Gonzalez-Neira A, Calafell F, Navarro A, Lao O, Cann H, Comas D, Bertranpetit J (2004) Geographic stratification of linkage disequilibrium: a worldwide population study in a region of chromosome 22. Human Genomics 1(6):399-409.

Clarimon J, Andres AM, Bertranpetit J, Comas D (2004) Comparative analysis of Alu insertion sequences in the APP 5′ flanking region in humans and other primates. Journal of Molecular Evolution 58(6):722-731.

Plaza S, Salas A, Calafell F, Corte-Real F, Bertranpetit J, Carracedo A, Comas D (2004) Insights into the western Bantu dispersal: mtDNA lineage analysis in Angola. Human Genetics 115(5):439-447.

Bertranpetit J, Calafell F, Comas D, Gonzalez-Neira A, Navarro A (2003) Structure of linkage disequilibrium in humans: genome factors and population stratification. Cold Spring Harbour Symposium Quantitative Biology 68:79-88.

Fadhlaoui-Zid K, Plaza S, Calafell F, Ben Amor M, Comas D, Bennamar El gaaied A (2004) Mitochondrial DNA heterogeneity in Tunisian Berbers. Annals of Human Genetics 68:222-233

Comas D, Schmid H, Braeuer S, Flaiz C, Busquets A, Calafell F, Bertranpetit J, Scheil HG, Huckenbeck W, Efremovska L, Schmidt H (2004) Alu insertion polymorphisms in the Balkans and the origins of the Aromuns. Annals of Human Genetics 68:120-127.

Comas D, Plaza S, Wells RS, Yuldaseva N, Lao O, Calafell F, Bertranpetit J (2004) Admixture, migrations, and dispersals in Central Asia: evidence from maternal DNA lineages. European Journal of Human Genetics 12(6):495-504.

Clarimón J, Bertranpetit J, Boada M, Tarraga L, Comas D (2003) HSP70-2 (HSPA1B) is associated with noncognitive symptoms in late-onset Alzheimer’s disease. Journal of Geriatric Psychiatry Neurology.16(3):146-150.

Clarimón J, Bertranpetit J, Calafell F, Boada M, Tarraga L, Comas D (2003) Association study between Alzheimer’s disease and genes involved in Abeta biosynthesis, aggregation and degradation: suggestive results with BACE1. Journal of Neurology 250(8):956-961.

Plaza S, Calafell F, Helal A, Bouzerna N, Lefranc G, Bertranpetit J, Comas D (2003) Joining the Pillars of Hercules: mtDNA sequences show multidirectional gene flow in the Western Mediterranean. Annals of Human Genetics 67(4): 312-328.

Clarimón J, Bertranpetit J, Calafell F, Boada M, Tarraga L, Comas D (2003) Joint analysis of candidate genes related to Alzheimer’s disease in a Spanish population. Psychiatric Genetics. 13(2):85-90.

Clarimón J, Muñoz FJ, Boada M, Tarraga L, Sunyer J, Bertranpetit J, Comas D (2003) Possible increased risk for Alzheimer’s disease associated with neprilysin gene. Journal of Neural Transmission. 110(6):651-657.

Bouqbis L, Izaabel H, Akhayat O, Pérez-Lezaun A, Calafell F, Bertranpetit J, Comas D (2003) Association of the CTLA4 promoter region (-1661G allele) with type 1 diabetes in the South Moroccan population. Genes and Immunity. 4(2):132-137

Calafell F, Comas D, Bertranpetit J (2002) Why names. Genome Research 12(2):219-221

Osier MV, Pakstis AJ, Soodyall H, Comas D, Goldman D, Odunsi A, Okonofua F, Parnas J, Schulz LO, Bertranpetit J, Bonne-Tamir B, Lu RB, Kidd JR, Kidd KK (2002) A global perspective on genetic variation at the ADH genes reveals unusual patterns of linkage disequilibrium and diversity. American Journal of Human Genetics 71(1):84-99.

Martínez-Arias R, Comas D, Bertranpetit J (2002) Determination of long-range haploid DNA sequences in humans: application to the glucocerebrosidase pseudogene. DNA Sequence 13(1):9-13.

Clarimón J, Comas D, Vallés M, Boada M, Tàrraga L, Bertranpetit J (2002) Apolipoprotein E variant (APO E2 Christchurch) in a family with Alzheimer’s disease and altered lipid values. Alzheimer’s Reports (2002) 5 (1):17-20.

Martínez-Arias R, Calafell F, Mateu E, Comas D, Andrés A, Bertranpetit J (2001) Sequence variability of a human pseudogene. Genome Research 11:1071-1085.

Martínez-Arias R, Comas D, Mateu E, Bertranpetit J (2001) Glucocerebrosidase pseudogene variation and Gaucher disease: recognising pseudogene tracts in GBA alleles. Human Mutation 17:191-198.

Bosch E, Calafell F, Comas D, Oefner PJ, Underhill PA, Bertranpetit J (2001) High resolution Y-chromosome SNP dissection: discontinuity between Europe and North Africa. American Journal of Human Genetics 68:1019-1029.

Brakez Z, Bosch E, Izaabel H, Akhayat O, Comas D, Bertranpetit J, Calafell F (2001) Human mitochondrial DNA sequence variation in the Moroccan population of the Souss area. Annals of Human Biology 28:295-307.

Comas D, Plaza S, Calafell F, Sajantila A, Bertranpetit J (2001) Recent insertion of an Alu element within a polymorphic human-specific Alu insertion. Molecular Biology and Evolution 18:85-88.

Martínez-Arias R, Comas D, Andrés-Morán A, Abelló MT, Domingo-Roura X, Bertranpetit J (2000) Tyrosinase gene in gorilla and the albinism of “Snowflake”. Pigment Cell Research 13:467-470.

Comas D, Calafell F, Benchemsi N, Helal A, Lefranc G, Stoneking M, Batzer M, Bertranpetit J, Sajantila A (2000) Alu insertion polymorphisms in Northwest Africa and the Iberian Peninsula: evidence for a strong genetic boundary through the Gibraltar Straits. Human Genetics 107:312-319.

Bosch E, Calafell F, Pérez-Lezaun A, Comas D, Izaabel H, Akhayat O, Sefiani A, Hariti G, Dugoujon JM, Bertranpetit J (2000) Y chromosome STR haplotypes in four populations from Northwestern Africa. International Journal of Legal Medicine 114:36-40.

Bosch E, Calafell F, Pérez-Lezaun A, Clarimón J, Comas D, Mateu E, Martínez-Arias R, Morera B, Brakez Z, Akhayat O, Sefiani A, Hariti G, Cambon-Thomsen A, Bertranpetit J (2000) Genetic structure of  Northwestern Africa revealed by STR analysis. European Journal of Human Genetics 8: 360-366.

Comas D, Calafell F, Bendukidze N, Fañanás L, Bertranpetit J (2000) Georgian and Kurd mtDNA sequence analysis shows a lack of correlation between languages and female genetic lineages. American Journal of Physical Anthropology 112: 5-16.

Bosch E, Calafell F, Santos FR, Pérez-Lezaun A, Comas D, Benchemsi N, Tyler-Smith C, Bertranpetit J (1999) Variation in Short Tandem Repeats is deeply structured by genetic background on the human Y chomosome. American Journal of Human Genetics 65: 1623-1638.

Pérez-Lezaun A, Calafell F, Comas D, Mateu E, Bosch E, Martínez-Arias R, Clarimon J, Fiori G, Luiselli D, Facchini F, Pettener D, Bertranpetit J (1999) Sex-specific migration patterns in Central Asian populations, revealed by analysis of Y-chromosome short tandem repeats and mtDNA. American Journal of Human Genetics 65: 208-219.

Comas D, Reynolds R, Sajantila A (1999) Analysis of mtDNA HVRII in several human populations using an immobilixed SSO probe hybridisation assay. European Journal of Human Genetics 7(4): 459-468.

Comas D, Calafell F, Mateu E, Pérez-Lezaun A, Bosch E, Martínez-Arias R, Clarimon J, Facchini F, Fiori G, Luiselli D, Pettener D, Bertranpetit J (1998) Trading genes along the Silk Road: mitochondrial DNA sequences and the origin of Central Asian populations. American Journal of Human Genetics 63: 1824-1838.

Comas D, Calafell F, Mateu E, Pérez-Lezaun A, Bosch E, Martínez-Arias R, Bertranpetit J (1998) HLA evidence for the lack of genetic heterogeneity in Basques. Annals of Human Genetics 62:123-132.

Salas A, Comas D, Lareu MV, Bertranpetit J, Carracedo A (1998) mtDNA analysis of the Galician population: a genetic edge of European variation. European Journal of Human Genetics 6: 365-375.

Comas D, Mateu E, Calafell F, Pérez-Lezaun A, Bosch E, Martínez-Arias R, Bertranpetit J (1998) HLA class I and class II DNA typing and the origin of Basques. Tissue Antigens 51(1): 30-40.

Mateu E, Comas D, Calafell F, Pérez-Lezaun A, Abade A, Bertranpetit J (1997) A tale of two islands: population history and mitochondrial DNA sequence variation of Bioko and Sao Tomé, Gulf of Guinea. Annals of Human Genetics 61: 507-518.

Pérez-Lezaun A, Calafell F, Seielstad M, Mateu E, Comas D, Bosch E, Bertranpetit J (1997) Population genetics of Y chromosome short tandem repeats in humans. Journal of Molecular Evolution 45 (3): 265-270.

Pérez-Lezaun A, Calafell F, Mateu E, Comas D, Bertranpetit J (1997) Allele frequencies for 20 microsatellites in a worldwide population survey. Human Heredity 47: 189-196.

Bosch E, Calafell F, Pérez-Lezaun A, Comas D, Mateu E, Bertranpetit J (1997) A population history of North Africa: evidence from classical genetic markers. Human Biology 69(3):295-311.

Comas D, Calafell F, Mateu E, Pérez-Lezaun A, Bosch E, Bertranpetit J (1997) Mitochondrial DNA variation and the origin of the Europeans. Human Genetics 99:443-449.

Pérez-Lezaun A, Calafell F, Mateu, E, Comas D, Ruíz-Pacheco R, Bertranpetit J (1997) Microsatellite variation and the differentiation of modern humans. Human Genetics 99:1-7.

Pérez-Lezaun A, Calafell F, Mateu E, Comas D, Bertranpetit J (1996) Identification of a base pair substitution at the tetranucleotide tandem repeat locus DHFRP2 (AAAC)n in a worldwide survey. International Journal of Legal Medicine 109: 159-160.

Comas D, Calafell F, Mateu E, Pérez-Lezaun A, Bertranpetit J (1996) Geographic variation in human mitochondrial DNA control region sequence: the population history of Turkey and its relationship to the European populations. Molecular Biology and Evolution 13 (8): 1067-1077.

Comas D, Pääbo S, Bertranpetit J (1995) Heteroplasmy in the control region of human mitochondrial DNA. Genome Research 5: 89-90.

Bertranpetit J, Sala, J, Calafell F, Underhill PA, Moral P, Comas D (1995) Human mitochondrial DNA variation and the origin of Basques. Annals of Human Genetics 59: 63-81.

BOOKS AND BOOK CHAPTERS

Calafell F, Comas D, Pérez-Lezaun A, Bosch E, Morera B, Bertranpetit J (2000) Evolutionary processes and micro-differentiation: emergence and detection of population-specific variation. In America Past, America Present: genes and languages in the Americas and Beyond. C. Renfrew Ed. pp15- 28.

Calafell F, Comas D, Pérez-Lezaun A, Bertranpetit J. Genetics and Population History of Central Asia (2000). In Archaeogenetics: DNA and the population prehistory of Europe. C. Renfrew and K Boyle Eds. McDonald Institute for Archaeological Research, Cambridge University pp 259-266.

Bertranpetit J, Calafell F, Comas D , Pérez-Lezaun A, Mateu E (1996) Mitochondrial DNA sequences in Europe: an insight on population history. In Molecular Biology and Human Diversity. A. Boyce and N. Mascie-Taylor Eds, Cambridge University Press pp 112-129.

OTHER PUBLICATIONS

Bosch E, Calafell F, Plaza S, Pérez-Lezaun A, Comas D, Bertranpetit J (2003) Genética e historia de las poblaciones del norte de África y la península Ibérica. Investigación y Ciencia 317:62-69.

Comas D (2001) De Mendel al genoma humano. Quark 20:16-19.

 Comas D (2000) Diversidad del cromosoma Y: tras los pasos de Adán. Biomedia, October 11th (http://www.biomeds.net/biomedia/R21).

Comas D (2000) Lenguas y linajes maternos: análisis del DNA mitocondrial de georgianos y kurdos. Biomedia, July 26th (http://www.biomeds.net/biomedia/R17).

Bertranpetit J, Comas D, Calafell F, Pérez-Lezaun A, Bosch E, Martínez-Arias R (1997) El pasado está en los genes. Mundo científico 179:425-431.