1. Chessa B, Pereira F, Arnaud F, Amorim A, Goyache F, Mainland I, Kao RR, Pemberton JM, Beraldi D, Stear MJ, Alberti A, Pittau M, Iannuzzi L, Banabazi MH, Kazwala RR, Zhang YP, Arranz JJ, Ali BA, Wang Z, Uzun M, Dione MM, Olsaker I, Holm LE, Saarma U, Ahmad S, Marzanov N, Eythorsdottir E, Holland MJ, Ajmone-Marsan P, Bruford MW, Kantanen J, Spencer TE, Palmarini M

Revealing the history of sheep domestication using retrovirus integrations. Science (New York, N.Y.) 324: 532-6, 2009.  [Article] 

 doi: 10.1126/science.1170587 PMID: 19390051.

 

2. Labouriau R, Amorim A

Comment on "An association between the kinship and fertility of human couples". Science (New York, N.Y.) 322: 1634; author reply 1634, 2008.  [Editorial Material] 

 doi: 10.1126/science.1161907 PMID: 19074330.

 

3. Machado JC, Pharoah P, Sousa S, Carvalho R, Oliveira C, Figueiredo C, Amorim A, Seruca R, Caldas C, Carneiro F, Sobrinho-Simões M

Interleukin 1B and interleukin 1RN polymorphisms are associated with increased risk of gastric carcinoma. Gastroenterology 121: 823-9, 2001.  [Article] 

 PMID: 11606496.

 

4. Behar DM, Metspalu E, Kivisild T, Achilli A, Hadid Y, Tzur S, Pereira L, Amorim A, Quintana-Murci L, Majamaa K, Herrnstadt C, Howell N, Balanovsky O, Kutuev I, Pshenichnov A, Gurwitz D, Bonne-Tamir B, Torroni A, Villems R, Skorecki K

The matrilineal ancestry of Ashkenazi Jewry: portrait of a recent founder event. American journal of human genetics 78: 487-97, 2006.  [Article] 

 doi: 10.1086/500307 PMID: 16404693.

 

5. Chacón-Duque JC, Adhikari K, Fuentes-Guajardo M, Mendoza-Revilla J, Acuña-Alonzo V, Barquera R, Quinto-Sánchez M, Gómez-Valdés J, Everardo Martínez P, Villamil-Ramírez H, Hünemeier T, Ramallo V, Silva de Cerqueira CC, Hurtado M, Villegas V, Granja V, Villena M, Vásquez R, Llop E, Sandoval JR, Salazar-Granara AA, Parolin ML, Sandoval K, Peñaloza-Espinosa RI, Rangel-Villalobos H, Winkler CA, Klitz W, Bravi C, Molina J, Corach D, Barrantes R, Gomes V, Resende C, Gusmão L, Amorim A, Xue Y, Dugoujon JM, Moral P, González-José R, Schuler-Faccini L, Salzano FM, Bortolini MC, Canizales-Quinteros S, Poletti G, Gallo C, Bedoya G, Rothhammer F, Balding D, Hellenthal G, Ruiz-Linares A

Latin Americans show wide-spread Converso ancestry and imprint of local Native ancestry on physical appearance. Nature communications 9: 5388, 2018.  [Article] 

 doi: 10.1038/s41467-018-07748-z PMID: 30568240.

 

6. Goios A, Pereira L, Bogue M, Macaulay V, Amorim A

mtDNA phylogeny and evolution of laboratory mouse strains. Genome research 17: 293-8, 2007.  [Article] 

 doi: 10.1101/gr.5941007 PMID: 17284675.

 

7. Rosser ZH, Zerjal T, Hurles ME, Adojaan M, Alavantic D, Amorim A, Amos W, Armenteros M, Arroyo E, Barbujani G, Beckman G, Beckman L, Bertranpetit J, Bosch E, Bradley DG, Brede G, Cooper G, Côrte-Real HB, de Knijff P, Decorte R, Dubrova YE, Evgrafov O, Gilissen A, Glisic S, Gölge M, Hill EW, Jeziorowska A, Kalaydjieva L, Kayser M, Kivisild T, Kravchenko SA, Krumina A, Kucinskas V, Lavinha J, Livshits LA, Malaspina P, Maria S, McElreavey K, Meitinger TA, Mikelsaar AV, Mitchell RJ, Nafa K, Nicholson J, Nørby S, Pandya A, Parik J, Patsalis PC, Pereira L, Peterlin B, Pielberg G, Prata MJ, Previderé C, Roewer L, Rootsi S, Rubinsztein DC, Saillard J, Santos FR, Stefanescu G, Sykes BC, Tolun A, Villems R, Tyler-Smith C, Jobling MA

Y-chromosomal diversity in Europe is clinal and influenced primarily by geography, rather than by language. American journal of human genetics 67: 1526-43, 2000.  [Article] 

 PMID: 11078479.

 

8. Pimenta J, Lopes AM, Comas D, Amorim A, Arenas M

Evaluating the Neolithic Expansion at Both Shores of the Mediterranean Sea. Molecular biology and evolution 34: 3232-3242, 2017.  [Article] 

 doi: 10.1093/molbev/msx256 PMID: 29029191.

 

9. Pereira L, Richards M, Goios A, Alonso A, Albarrán C, Garcia O, Behar DM, Gölge M, Hatina J, Al-Gazali L, Bradley DG, Macaulay V, Amorim A

High-resolution mtDNA evidence for the late-glacial resettlement of Europe from an Iberian refugium. Genome research 15: 19-24, 2005.  [Article] 

 doi: 10.1101/gr.3182305 PMID: 15632086.

 

10. Azevedo L, Suriano G, van Asch B, Harding RM, Amorim A

Epistatic interactions: how strong in disease and evolution? Trends in genetics : TIG 22: 581-5, 2006.  [Article] 

 doi: 10.1016/j.tig.2006.08.001 PMID: 16911842.

 

11. Pereira F, Queirós S, Gusmão L, Nijman IJ, Cuppen E, Lenstra JA, Consortium E, Davis SJ, Nejmeddine F, Amorim A

Tracing the history of goat pastoralism: new clues from mitochondrial and Y chromosome DNA in North Africa. Molecular biology and evolution 26: 2765-73, 2009.  [Article] 

 doi: 10.1093/molbev/msp200 PMID: 19729424.

 

12. Damas J, Carneiro J, Amorim A, Pereira F

MitoBreak: the mitochondrial DNA breakpoints database. Nucleic acids research 42: D1261-8, 2014.  [Article] 

 doi: 10.1093/nar/gkt982 PMID: 24170808.

 

13. Damas J, Carneiro J, Gonçalves J, Stewart JB, Samuels DC, Amorim A, Pereira F

Mitochondrial DNA deletions are associated with non-B DNA conformations. Nucleic acids research 40: 7606-21, 2012.  [Article] 

 doi: 10.1093/nar/gks500 PMID: 22661583.

 

14. Lopes AM, Aston KI, Thompson E, Carvalho F, Gonçalves J, Huang N, Matthiesen R, Noordam MJ, Quintela I, Ramu A, Seabra C, Wilfert AB, Dai J, Downie JM, Fernandes S, Guo X, Sha J, Amorim A, Barros A, Carracedo A, Hu Z, Hurles ME, Moskovtsev S, Ober C, Paduch DA, Schiffman JD, Schlegel PN, Sousa M, Carrell DT, Conrad DF

Human spermatogenic failure purges deleterious mutation load from the autosomes and both sex chromosomes, including the gene DMRT1. PLoS genetics 9: e1003349, 2013.  [Article] 

 doi: 10.1371/journal.pgen.1003349 PMID: 23555275.

 

15. Gusmão L, Sánchez-Diz P, Calafell F, Martín P, Alonso CA, Alvarez-Fernández F, Alves C, Borjas-Fajardo L, Bozzo WR, Bravo ML, Builes JJ, Capilla J, Carvalho M, Castillo C, Catanesi CI, Corach D, Di Lonardo AM, Espinheira R, Fagundes de Carvalho E, Farfán MJ, Figueiredo HP, Gomes I, Lojo MM, Marino M, Pinheiro MF, Pontes ML, Prieto V, Ramos-Luis E, Riancho JA, Souza Góes AC, Santapa OA, Sumita DR, Vallejo G, Vidal Rioja L, Vide MC, Vieira da Silva CI, Whittle MR, Zabala W, Zarrabeitia MT, Alonso A, Carracedo A, Amorim A

Mutation rates at Y chromosome specific microsatellites. Human mutation 26: 520-8, 2005.  [Article] 

 doi: 10.1002/humu.20254 PMID: 16220553.

 

16. Vilarinho L, Cardoso ML, Gaspar P, Barbot C, Azevedo L, Diogo L, Santos M, Carrilho I, Fineza I, Kok F, Chorão R, Alegria P, Martins E, Teixeira J, Cabral Fernandes H, Verhoeven NM, Salomons GS, Santorelli FM, Cabral P, Amorim A, Jakobs C

Novel L2HGDH mutations in 21 patients with L-2-hydroxyglutaric aciduria of Portuguese origin. Human mutation 26: 395-6, 2005.  [] 

 doi: 10.1002/humu.9373 PMID: 16134148.

 

17. Pereira F, Carneiro J, Matthiesen R, van Asch B, Pinto N, Gusmão L, Amorim A

Identification of species by multiplex analysis of variable-length sequences. Nucleic acids research 38: e203, 2010.  [Article] 

 doi: 10.1093/nar/gkq865 PMID: 20923781.

 

18. Suriano G, Azevedo L, Novais M, Boscolo B, Seruca R, Amorim A, Ghibaudi EM

In vitro demonstration of intra-locus compensation using the ornithine transcarbamylase protein as model. Human molecular genetics 16: 2209-14, 2007.  [Article] 

 doi: 10.1093/hmg/ddm172 PMID: 17613537.

 

19. Lesueur F, Corbex M, McKay JD, Lima J, Soares P, Griseri P, Burgess J, Ceccherini I, Landolfi S, Papotti M, Amorim A, Goldgar DE, Romeo G

Specific haplotypes of the RET proto-oncogene are over-represented in patients with sporadic papillary thyroid carcinoma. Journal of medical genetics 39: 260-5, 2002.  [Article] 

 PMID: 11950855.

 

20. Martins S, Soong BW, Wong VC, Giunti P, Stevanin G, Ranum LP, Sasaki H, Riess O, Tsuji S, Coutinho P, Amorim A, Sequeiros J, Nicholson GA

Mutational origin of Machado-Joseph disease in the Australian Aboriginal communities of Groote Eylandt and Yirrkala. Archives of neurology 69: 746-51, 2012.  [Article] 

 doi: 10.1001/archneurol.2011.2504 PMID: 22351852.

 

21. Carneiro J, Pereira F, Amorim A

SPInDel: a multifunctional workbench for species identification using insertion/deletion variants. Molecular ecology resources 12: 1190-5, 2012.  [Article] 

 doi: 10.1111/1755-0998.12011 PMID: 22978681.

 

22. Pereira F, Soares P, Carneiro J, Pereira L, Richards MB, Samuels DC, Amorim A

Evidence for variable selective pressures at a large secondary structure of the human mitochondrial DNA control region. Molecular biology and evolution 25: 2759-70, 2008.  [Article] 

 doi: 10.1093/molbev/msn225 PMID: 18845547.

 

23. Azevedo L, Climent C, Vilarinho L, Calafell F, Amorim A

Evidence for mutational cis-acting factors affecting mutagenesis in the ornithine transcarbamylase gene. Human mutation 24: 273, 2004.  [] 

 doi: 10.1002/humu.9268 PMID: 15300856.

 

24. Pereira F, Davis SJ, Pereira L, McEvoy B, Bradley DG, Amorim A

Genetic signatures of a Mediterranean influence in Iberian Peninsula sheep husbandry. Molecular biology and evolution 23: 1420-6, 2006.  [Article] 

 doi: 10.1093/molbev/msl007 PMID: 16672283.

 

25. Lopes AM, Calafell F, Amorim A

Microsatellite variation and evolutionary history of PCDHX/Y gene pair within the Xq21.3/Yp11.2 hominid-specific homology block. Molecular biology and evolution 21: 2092-101, 2004.  [Article] 

 doi: 10.1093/molbev/msh218 PMID: 15297598.

 

26. Santos NP, Ribeiro-Rodrigues EM, Ribeiro-Dos-Santos AK, Pereira R, Gusmão L, Amorim A, Guerreiro JF, Zago MA, Matte C, Hutz MH, Santos SE

Assessing individual interethnic admixture and population substructure using a 48-insertion-deletion (INSEL) ancestry-informative marker (AIM) panel. Human mutation 31: 184-90, 2010.  [Article] 

 doi: 10.1002/humu.21159 PMID: 19953531.

 

27. Martins S, Calafell F, Gaspar C, Wong VC, Silveira I, Nicholson GA, Brunt ER, Tranebjaerg L, Stevanin G, Hsieh M, Soong BW, Loureiro L, Dürr A, Tsuji S, Watanabe M, Jardim LB, Giunti P, Riess O, Ranum LP, Brice A, Rouleau GA, Coutinho P, Amorim A, Sequeiros J

Asian origin for the worldwide-spread mutational event in Machado-Joseph disease. Archives of neurology 64: 1502-8, 2007.  [Article] 

 doi: 10.1001/archneur.64.10.1502 PMID: 17923634.

 

28. Ferragut JF, Bentayebi K, Pereira R, Castro JA, Amorim A, Ramon C, Picornell A

Genetic portrait of Jewish populations based on three sets of X-chromosome markers: Indels, Alu insertions and STRs. Forensic science international. Genetics 31: e5-e11, 2017.  [Article] 

 doi: 10.1016/j.fsigen.2017.09.008 PMID: 28951006.

 

29. Alves C, Pereira R, Prieto L, Aler M, Amaral CR, Arévalo C, Berardi G, Di Rocco F, Caputo M, Carmona CH, Catelli L, Costa HA, Coufalova P, Furfuro S, García Ó, Gaviria A, Goios A, Gómez JJ, Hernández A, Hernández ED, Miranda L, Parra D, Pedrosa S, Porto MJ, Rebelo ML, Spirito M, Torres MD, Amorim A, Pereira F

Species identification in forensic samples using the SPInDel approach: A GHEP-ISFG inter-laboratory collaborative exercise. Forensic science international. Genetics 28: 219-224, 2017.  [Article] 

 doi: 10.1016/j.fsigen.2017.03.003 PMID: 28324847.

 

30. Gonçalves J, Conde-Sousa E, Egeland T, Amorim A, Pinto N

Key individuals for discerning pedigrees belonging to the same autosomal kinship class. Forensic science international. Genetics 29: 71-79, 2017.  [Article] 

 doi: 10.1016/j.fsigen.2017.03.018 PMID: 28380400.

 

31. Amorim A, Pinto N

Big data in forensic genetics. Forensic science international. Genetics 37: 102-105, 2018.  [Article] 

 doi: 10.1016/j.fsigen.2018.08.001 PMID: 30142461.

 

32. Pereira R, Alves C, Aler M, Amorim A, Arévalo C, Betancor E, Braganholi D, Bravo ML, Brito P, Builes JJ, Burgos G, Carvalho EF, Castillo A, Catanesi CI, Cicarelli RMB, Coufalova P, Dario P, D'Amato ME, Davison S, Ferragut J, Fondevila M, Furfuro S, García O, Gaviria A, Gomes I, González E, Gonzalez-Liñan A, Gross TE, Hernández A, Huang Q, Jiménez S, Jobim LF, López-Parra AM, Marino M, Marques S, Martínez-Cortés G, Masciovecchio V, Parra D, Penacino G, Pinheiro MF, Porto MJ, Posada Y, Restrepo C, Ribeiro T, Rubio L, Sala A, Santurtún A, Solís LS, Souto L, Streitemberger E, Torres A, Vilela-Lamego C, Yunis JJ, Yurrebaso I, Gusmão L

A GHEP-ISFG collaborative study on the genetic variation of 38 autosomal indels for human identification in different continental populations. Forensic science international. Genetics 32: 18-25, 2018.  [Article] 

 doi: 10.1016/j.fsigen.2017.09.012 PMID: 29024923.

 

33. Egeland T, Pinto N, Amorim A

Exact likelihood ratio calculations for pairwise cases. Forensic science international. Genetics 29: 218-224, 2017.  [Article] 

 doi: 10.1016/j.fsigen.2017.04.018 PMID: 28482259.

 

34. Ferragut JF, Pinto N, Amorim A, Picornell A

Improving publication quality and the importance of Post Publication Peer Review: The illustrating example of X chromosome analysis and calculation of forensic parameters. Forensic science international. Genetics 38: e5-e7, 2019.  [Letter] 

 doi: 10.1016/j.fsigen.2018.11.006 PMID: 30455113.

 

35. Duarte-Pereira S, Silva SS, Azevedo L, Castro L, Amorim A, Silva RM

NAMPT and NAPRT1: novel polymorphisms and distribution of variants between normal tissues and tumor samples. Scientific reports 4: 6311, 2014.  [Article] 

 doi: 10.1038/srep06311 PMID: 25201160.

 

36. Yotova V, Lefebvre JF, Moreau C, Gbeha E, Hovhannesyan K, Bourgeois S, Bédarida S, Azevedo L, Amorim A, Sarkisian T, Avogbe PH, Chabi N, Chabi N, Kou' Santa Amouzou ES, Sanni A, Roberts-Thomson J, Boettcher B, Scott RJ, Labuda D

An X-linked haplotype of Neandertal origin is present among all non-African populations. Molecular biology and evolution 28: 1957-62, 2011.  [Article] 

 doi: 10.1093/molbev/msr024 PMID: 21266489.

 

37. Arenas M, Pereira F, Oliveira M, Pinto N, Lopes AM, Gomes V, Carracedo A, Amorim A

Forensic genetics and genomics: Much more than just a human affair. PLoS genetics 13: e1006960, 2017.  [Review] 

 doi: 10.1371/journal.pgen.1006960 PMID: 28934201.

 

38. van Asch B, Zhang AB, Oskarsson MC, Klütsch CF, Amorim A, Savolainen P

Pre-Columbian origins of Native American dog breeds, with only limited replacement by European dogs, confirmed by mtDNA analysis. Proceedings of The Royal Society B-Biological Sciences  280: 1, 2013.  [Article] 

 doi: 10.1098/rspb.2013.1142 PMID: 23843389.

 

39. Duarte-Pereira S, Pereira-Castro I, Silva SS, Correia MG, Neto C, da Costa LT, Amorim A, Silva RM

Extensive regulation of nicotinate phosphoribosyltransferase (NAPRT) expression in human tissues and tumors. Oncotarget 7: 1973-83, 2016.  [Article] 

 doi: 10.18632/oncotarget.6538 PMID: 26675378.

 

40. Damas J, Samuels DC, Carneiro J, Amorim A, Pereira F

Mitochondrial DNA rearrangements in health and disease-a comprehensive study. Human mutation 35: 1-14, 2014.  [Review] 

 doi: 10.1002/humu.22452 PMID: 24115352.

 

41. Gomes V, Pala M, Salas A, Álvarez-Iglesias V, Amorim A, Gómez-Carballa A, Carracedo Á, Clarke DJ, Hill C, Mormina M, Shaw MA, Dunne DW, Pereira R, Pereira V, Prata MJ, Sánchez-Diz P, Rito T, Soares P, Gusmão L, Richards MB

Mosaic maternal ancestry in the Great Lakes region of East Africa. Human genetics 134: 1013-27, 2015.  [Article] 

 doi: 10.1007/s00439-015-1583-0 PMID: 26188410.

 

42. Alves S, Amorim A, Ferreira F, Prata MJ

Influence of the variable number of tandem repeats located in the promoter region of the thiopurine methyltransferase gene on enzymatic activity. Clinical pharmacology and therapeutics 70: 165-74, 2001.  [Article] 

 doi: 10.1067/mcp.2001.117284 PMID: 11503011.

 

43. Gomes V, Sánchez-Diz P, Amorim A, Carracedo A, Gusmão L

Digging deeper into East African human Y chromosome lineages. Human genetics 127: 603-13, 2010.  [Article] 

 doi: 10.1007/s00439-010-0808-5 PMID: 20213473.

 

44. Marques SL, Goios A, Rocha AM, Prata MJ, Amorim A, Gusmão L, Alves C, Alvarez L

Portuguese mitochondrial DNA genetic diversity-An update and a phylogenetic revision. Forensic science international. Genetics 15: 27-32, 2015.  [Article] 

 doi: 10.1016/j.fsigen.2014.10.004 PMID: 25457629.

 

45. Gonçalves J, Marks CA, Obendorf D, Amorim A, Pereira F

Reply to Sarre et al. "Defining specificity in DNA detection of wildlife". Forensic science international. Genetics 16: e1-2, 2015.  [Letter] 

 doi: 10.1016/j.fsigen.2014.10.024 PMID: 25466969.

 

46. Machado P, Pereira R, Rocha AM, Manco L, Fernandes N, Miranda J, Ribeiro L, do Rosário VE, Amorim A, Gusmão L, Arez AP

Malaria: looking for selection signatures in the human PKLR gene region. British journal of haematology 149: 775-84, 2010.  [Article] 

 doi: 10.1111/j.1365-2141.2010.08165.x PMID: 20377593.

 

47. Martins C, Ferreira PM, Carvalho R, Costa SC, Farinha C, Azevedo L, Amorim A, Oliveira M

Evaluation of InnoQuant® HY and InnoTyper® 21 kits in the DNA analysis of rootless hair samples. Forensic science international. Genetics 39: 61-65, 2019.  [Article] 

 doi: 10.1016/j.fsigen.2018.12.005 PMID: 30578984.

 

48. Pinto N, Simões R, Amorim A, Conde-Sousa E

Optimizing the information increase through the addition of relatives and genetic markers in identification and kinship cases. Forensic science international. Genetics 40: 210-218, 2019.  [Article] 

 doi: 10.1016/j.fsigen.2019.02.019 PMID: 30921688.

 

49. Silva AP, Miranda IM, Guida A, Synnott J, Rocha R, Silva R, Amorim A, Pina-Vaz C, Butler G, Rodrigues AG

Transcriptional profiling of azole-resistant Candida parapsilosis strains. Antimicrobial agents and chemotherapy 55: 3546-56, 2011.  [Article] 

 doi: 10.1128/AAC.01127-10 PMID: 21518843.

 

50. Costa-de-Oliveira S, Marcos Miranda I, Silva RM, Pinto E Silva A, Rocha R, Amorim A, Gonçalves Rodrigues A, Pina-Vaz C

FKS2 mutations associated with decreased echinocandin susceptibility of Candida glabrata following anidulafungin therapy. Antimicrobial agents and chemotherapy 55: 1312-4, 2011.  [Article] 

 doi: 10.1128/AAC.00589-10 PMID: 21149621.

 

51. Martins S, Pearson CE, Coutinho P, Provost S, Amorim A, Dubé MP, Sequeiros J, Rouleau GA

Modifiers of (CAG)n instability in Machado-Joseph disease (MJD/SCA3) transmissions: an association study with DNA replication, repair and recombination genes. Human genetics 133: 1311-8, 2014.  [Article] 

 doi: 10.1007/s00439-014-1467-8 PMID: 25026993.

 

52. Rodríguez-Suárez E, Gubb E, Alzueta IF, Falcón-Pérez JM, Amorim A, Elortza F, Matthiesen R

Virtual expert mass spectrometrist: iTRAQ tool for database-dependent search, quantitation and result storage. Proteomics 10: 1545-56, 2010.  [Article] 

 doi: 10.1002/pmic.200900255 PMID: 20140907.

 

53. Seabra CM, Quental S, Lima AC, Carvalho F, Gonçalves J, Fernandes S, Pereira I, Silva J, Marques PI, Sousa M, Barros A, Seixas S, Amorim A, Lopes AM

The Mutational Spectrum of WT1 in Male Infertility. The Journal of urology 193: 1709-15, 2015.  [Article] 

 doi: 10.1016/j.juro.2014.11.004 PMID: 25451826.

 

54. Peixoto A, Santos C, Rocha P, Pinheiro M, Príncipe S, Pereira D, Rodrigues H, Castro F, Abreu J, Gusmão L, Amorim A, Teixeira MR

The c.156_157insAlu BRCA2 rearrangement accounts for more than one-fourth of deleterious BRCA mutations in northern/central Portugal. Breast cancer research and treatment 114: 31-8, 2009.  [Article] 

 doi: 10.1007/s10549-008-9978-4 PMID: 18363094.

 

55. Alves S, Amorim A, Ferreira F, Norton L, Prata MJ

The GSTM1 and GSTT1 genetic polymorphisms and susceptibility to acute lymphoblastic leukemia in children from north Portugal. Leukemia 16: 1565-7, 2002.  [Letter] 

 doi: 10.1038/sj.leu.2402543 PMID: 12145701.

 

56. Martins S, Trigo F, Azevedo L, Silva MJ, Guimaraes JE, Amorim A

Haplotype study of microsatellites flanking the t(15;17) breakpoint in acute promyelocytic leukemia patients from North Portugal. Leukemia 16: 1353-7, 2002.  [Article] 

 doi: 10.1038/sj.leu.2402525 PMID: 12094260.

 

57. Soares PA, Trejaut JA, Rito T, Cavadas B, Hill C, Eng KK, Mormina M, Brandão A, Fraser RM, Wang TY, Loo JH, Snell C, Ko TM, Amorim A, Pala M, Macaulay V, Bulbeck D, Wilson JF, Gusmão L, Pereira L, Oppenheimer S, Lin M, Richards MB

Resolving the ancestry of Austronesian-speaking populations. Human genetics 135: 309-26, 2016.  [Article] 

 doi: 10.1007/s00439-015-1620-z PMID: 26781090.

 

58. Pereira-Castro I, Quental R, da Costa LT, Amorim A, Azevedo L

Successful COG8 and PDF overlap is mediated by alterations in splicing and polyadenylation signals. Human genetics 131: 265-74, 2012.  [Article] 

 doi: 10.1007/s00439-011-1075-9 PMID: 21805148.

 

59. Martins S, Sharony R, Costa IPD, Zaltzman R, Amorim A, Sequeiros J, Gordon CR

Jewish MJD patients of Yemenite descent share a recent common ancestor EUROPEAN JOURNAL OF NEUROLOGY 25: 263-263, 2018.  [Meeting Abstract] 

.

 

60. Gonçalves J, Marks CA, Obendorf D, Amorim A, Pereira F

The risks of using "species-specific" PCR assays in wildlife research: The case of red fox (Vulpes vulpes) identification in Tasmania. Forensic science international. Genetics 11C: e9-e11, 2014.  [Letter] 

 doi: 10.1016/j.fsigen.2014.03.009 PMID: 24742708.

 

61. Oliveira AM, Domingues PM, Gomes V, Amorim A, Jannuzzi J, de Carvalho EF, Gusmão L

Male lineage strata of Brazilian population disclosed by the simultaneous analysis of STRs and SNPs. Forensic science international. Genetics 13: 264-8, 2014.  [Article] 

 doi: 10.1016/j.fsigen.2014.08.017 PMID: 25259770.

 

62. Pinto N, Gusmão L, Amorim A

Mutation and mutation rates at Y chromosome specific Short Tandem Repeat Polymorphisms (STRs): A reappraisal. Forensic science international. Genetics 9: 20-4, 2014.  [Article] 

 doi: 10.1016/j.fsigen.2013.10.008 PMID: 24528575.

 

63. Melo F, Amorim A, Alves C

Comparative performance between "next generation" multiplex systems and the new European Standard Set of STR markers in the Portuguese Population. Forensic science international. Genetics 8: 137-42, 2014.  [Article] 

 doi: 10.1016/j.fsigen.2013.08.015 PMID: 24315601.

 

64. Nogueiro I, Teixeira J, Amorim A, Gusmão L, Alvarez L

Echoes from Sepharad: signatures on the maternal gene pool of crypto-Jewish descendants. European journal of human genetics : EJHG 23: 693-9, 2015.  [Article] 

 doi: 10.1038/ejhg.2014.140 PMID: 25074462.

 

65. Pereira V, Tomas C, Sanchez JJ, Syndercombe-Court D, Amorim A, Gusmão L, Prata MJ, Morling N

The peopling of Greenland: further insights from the analysis of genetic diversity using autosomal and X-chromosomal markers. European journal of human genetics : EJHG 23: 245-51, 2015.  [Article] 

 doi: 10.1038/ejhg.2014.90 PMID: 24801759.

 

66. Nogueiro I, Teixeira J, Amorim A, Gusmão L, Alvarez L

Reply to letter from Felice L. Bedford and Doron Yacobi. European journal of human genetics : EJHG 23: 994-5, 2015.  [Letter] 

 doi: 10.1038/ejhg.2014.232 PMID: 25370035.

 

67. Moleirinho A, Seixas S, Lopes AM, Bento C, Prata MJ, Amorim A

Evolutionary Constraints in the ß-Globin Cluster: The Signature of Purifying Selection at the d-Globin (HBD) Locus and Its Role in Developmental Gene Regulation. Genome biology and evolution 5: 559-71, 2013.  [Article] 

 doi: 10.1093/gbe/evt029 PMID: 23431002.

 

68. Matthiesen R, Azevedo L, Amorim A, Carvalho AS

Discussion on common data analysis strategies used in MS-based proteomics. Proteomics 11: 604-19, 2011.  [Review] 

 doi: 10.1002/pmic.201000404 PMID: 21241018.

 

69. Peixoto A, Santos C, Pinheiro M, Pinto P, Soares MJ, Rocha P, Gusmão L, Amorim A, van der Hout A, Gerdes AM, Thomassen M, Kruse TA, Cruger D, Sunde L, Bignon YJ, Uhrhammer N, Cornil L, Rouleau E, Lidereau R, Yannoukakos D, Pertesi M, Narod S, Royer R, Costa MM, Lazaro C, Feliubadaló L, Graña B, Blanco I, de la Hoya M, Caldés T, Maillet P, Benais-Pont G, Pardo B, Laitman Y, Friedman E, Velasco EA, Durán M, Miramar MD, Valle AR, Calvo MT, Vega A, Blanco A, Diez O, Gutiérrez-Enríquez S, Balmaña J, Ramon y Cajal T, Alonso C, Baiget M, Foulkes W, Tischkowitz M, Kyle R, Sabbaghian N, Ashton-Prolla P, Ewald IP, Rajkumar T, Mota-Vieira L, Giannini G, Gulino A, Achatz MI, Carraro DM, de Paillerets BB, Remenieras A, Benson C, Casadei S, King MC, Teugels E, Teixeira MR

International distribution and age estimation of the Portuguese BRCA2 c.156_157insAlu founder mutation. Breast cancer research and treatment 127: 671-9, 2011.  [Article] 

 doi: 10.1007/s10549-010-1036-3 PMID: 20652400.

 

70. Almeida T, Alonso I, Martins S, Ramos EM, Azevedo L, Ohno K, Amorim A, Saraiva-Pereira ML, Jardim LB, Matsuura T, Sequeiros J, Silveira I

Ancestral origin of the ATTCT repeat expansion in spinocerebellar ataxia type 10 (SCA10). PloS one 4: e4553, 2009.  [Article] 

 doi: 10.1371/journal.pone.0004553 PMID: 19234597.

 

71. Beleza S, Gusmão L, Amorim A, Carracedo A, Salas A

The genetic legacy of western Bantu migrations. Human genetics 117: 366-75, 2005.  [Article] 

 doi: 10.1007/s00439-005-1290-3 PMID: 15928903.

 

72. Pereira F, Pereira L, Van Asch B, Bradley DG, Amorim A

The mtDNA catalogue of all Portuguese autochthonous goat (Capra hircus) breeds: high diversity of female lineages at the western fringe of European distribution. Molecular ecology 14: 2313-8, 2005.  [Article] 

 doi: 10.1111/j.1365-294X.2005.02594.x PMID: 15969716.

 

73. Fregel R, Gomes V, Gusmão L, González AM, Cabrera VM, Amorim A, Larruga JM

Demographic history of Canary Islands male gene-pool: replacement of native lineages by European. BMC evolutionary biology 9: 181, 2009.  [Article] 

 doi: 10.1186/1471-2148-9-181 PMID: 19650893.

 

74. Azevedo L, Mort M, Costa AC, Silva RM, Quelhas D, Amorim A, Cooper DN

Improving the in silico assessment of pathogenicity for compensated variants. European journal of human genetics : EJHG 25: 2-7, 2016.  [Editorial Material] 

 doi: 10.1038/ejhg.2016.129 PMID: 27703146.

 

75. Alves JM, Chikhi L, Amorim A, Lopes AM

The 8p23 Inversion Polymorphism Determines Local Recombination Heterogeneity across Human Populations. Genome biology and evolution 6: 921-30, 2014.  [Article] 

 doi: 10.1093/gbe/evu064 PMID: 24682157.

 

76. González M, Gomes V, López-Parra AM, Amorim A, Carracedo A, Sánchez-Diz P, Arroyo-Pardo E, Gusmão L

The genetic landscape of Equatorial Guinea and the origin and migration routes of the Y chromosome haplogroup R-V88. European journal of human genetics : EJHG 21: 324-31, 2013.  [Article] 

 doi: 10.1038/ejhg.2012.167 PMID: 22892526.

 

77. Lopes AM, Burgoyne PS, Ojarikre A, Bauer J, Sargent CA, Amorim A, Affara NA

Transcriptional changes in response to X chromosome dosage in the mouse: implications for X inactivation and the molecular basis of Turner Syndrome. BMC genomics 11: 82, 2010.  [Article] 

 doi: 10.1186/1471-2164-11-82 PMID: 20122165.

 

78. Navarro-Costa P, Pereira L, Alves C, Gusmão L, Proença C, Marques-Vidal P, Rocha T, Correia SC, Jorge S, Neves A, Soares AP, Nunes J, Calhaz-Jorge C, Amorim A, Plancha CE, Gonçalves J

Characterizing partial AZFc deletions of the Y chromosome with amplicon-specific sequence markers. BMC genomics 8: 342, 2007.  [Article] 

 doi: 10.1186/1471-2164-8-342 PMID: 17903263.

 

79. Navarro-Costa P, Pereira L, Alves C, Gusmão L, Proença C, Marques-Vidal P, Rocha T, Correia SC, Jorge S, Neves A, Soares AP, Nunes J, Calhaz-Jorge C, Amorim A, Plancha CE, Gonçalves J

Sequence architecture and deletion mechanisms vary widely in the partial AZFc deletion pool of the Y chromosome. BMC genomics 8: 342, 2007.  [] 

.

 

80. Alonso A, Albarran C, Martín P, García P, Capilla J, García O, de la Rua C, Izaguirre N, Pereira F, Pereira L, Amorim A, Sancho M

Usefulness of microchip electrophoresis for the analysis of mitochondrial DNA in forensic and ancient DNA studies. Electrophoresis 27: 5101-9, 2006.  [Article] 

 doi: 10.1002/elps.200600331 PMID: 17120261.

 

81. Alves JM, Lima AC, Pais IA, Amir N, Celestino R, Piras G, Monne M, Comas D, Heutink P, Chikhi L, Amorim A, Lopes AM

Reassessing the Evolutionary History of the 17q21 Inversion Polymorphism. Genome biology and evolution 7: 3239-3248, 2015.  [Article] 

 doi: 10.1093/gbe/evv214 PMID: 26560338.

 

82. 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

Reconstructing the Indian origin and dispersal of the European Roma: a maternal genetic perspective. PloS one 6: e15988, 2011.  [Article] 

 doi: 10.1371/journal.pone.0015988 PMID: 21264345.

 

83. Moleirinho A, Carneiro J, Matthiesen R, Silva RM, Amorim A, Azevedo L

Gains, losses and changes of function after gene duplication: study of the metallothionein family. PloS one 6: e18487, 2011.  [Article] 

 doi: 10.1371/journal.pone.0018487 PMID: 21541013.

 

84. Pinto N, Gusmão L, Egeland T, V. Silva P, Amorim A

Estimation of Coancestry Coefficient from Genotypic Data: a Revision of the Autosomal
Case and Extension to X-chromosome Markers PloS one  1, 2011.  [] 

.

 

85. Matthiesen R, Prieto G, Amorim A, Aloria K, Fullaondo A, Carvalho AS, Arizmendi JM

SIR: Deterministic protein inference from peptides assigned to MS data. Journal of Proteomics 75: 4176-83, 2012.  [Article] 

 doi: 10.1016/j.jprot.2012.05.010 PMID: 22626983.

 

86. Soares I, Amorim A, Goios A

mtDNAoffice: A software to assign human mtDNA macro haplogroups through automated analysis of the protein coding region. Mitochondrion 12: 666-8, 2012.  [Article] 

 doi: 10.1016/j.mito.2012.08.003 PMID: 22906555.

 

87. Brehm A, Pereira L, Kivisild T, Amorim A

Mitochondrial portraits of the Madeira and Açores archipelagos witness different genetic pools of its settlers. Human genetics 114: 77-86, 2003.  [Article] 

 doi: 10.1007/s00439-003-1024-3 PMID: 14513360.

 

88. Araujo R, Pina-Vaz C, Rodrigues AG, Amorim A, Gusmão L

Simple and highly discriminatory microsatellite-based multiplex PCR for Aspergillus fumigatus strain typing. Clinical microbiology and infection : the official publication of the European Society of Clinical Microbiology and Infectious Diseases 15: 260-6, 2009.  [Article] 

 doi: 10.1111/j.1469-0691.2008.02661.x PMID: 19196262.

 

89. Pimenta J, Lopes AM, Carracedo A, Arenas M, Amorim A, Comas D

Spatially explicit analysis reveals complex human genetic gradients in the Iberian Peninsula. Scientific reports 9: 7825, 2019.  [Article] 

 doi: 10.1038/s41598-019-44121-6 PMID: 31127131.

 

90. Labouriau R, Amorim A

Human fertility increases with marital radius. Genetics 178: 601-3, 2008.  [Article] 

 doi: 10.1534/genetics.107.072454 PMID: 18202400.

 

91. Valente C, Alvarez L, Marques PI, Gusmão L, Amorim A, Seixas S, João Prata M

Genes from the TAS1R and TAS2R Families of Taste Receptors: Looking for Signatures of Their Adaptive Role in Human Evolution. Genome biology and evolution 10: 1139-1152, 2018.  [Article] 

 doi: 10.1093/gbe/evy071 PMID: 29635333.

 

92. Martins S, Coutinho P, Silveira I, Giunti P, Jardim LB, Calafell F, Sequeiros J, Amorim A

Cis-acting factors promoting the CAG intergenerational instability in Machado-Joseph disease. Am J Med Genet B Neuropsychiatr Genet 147B: 439-46, 2008.  [Article] 

 doi: 10.1002/ajmg.b.30624 PMID: 17948873.

 

93. Ferragut JF, Pereira R, Castro JA, Ramon C, Nogueiro I, Amorim A, Picornell A

Genetic diversity of 38 insertion-deletion polymorphisms in Jewish populations. Forensic science international. Genetics 21: 1-4, 2016.  [Article] 

 doi: 10.1016/j.fsigen.2015.11.003 PMID: 26610303.

 

94. Amorim A, Crespillo M, Luque JA, Prieto L, Garcia O, Gusmão L, Aler M, Barrio PA, Saragoni VG, Pinto N

Formulation and communication of evaluative forensic science expert opinion-A GHEP-ISFG contribution to the establishment of standards. Forensic science international. Genetics 25: 210-213, 2016.  [Article] 

 doi: 10.1016/j.fsigen.2016.09.003 PMID: 27690358.

 

95. Oliveira E, Pereira R, Amorim A, McLeod H, Prata MJ

Patterns of pharmacogenetic diversity in African populations: role of ancient and recent history. Pharmacogenomics 10: 1413-22, 2009.  [Article] 

 doi: 10.2217/pgs.09.74 PMID: 19761365.

 

96. Suarez-Kurtz G, Amorim A, Damasceno A, Hutz MH, de Moraes MO, Ojopi EB, Pena SD, Perini JA, Prata MJ, Ribeiro-dos-Santos A, Romano-Silva MA

VKORC1 polymorphisms in Brazilians: comparison with the Portuguese and Portuguese-speaking Africans and pharmacogenetic implications. Pharmacogenomics 11: 1257-67, 2010.  [Article] 

 doi: 10.2217/pgs.10.89 PMID: 20860466.

 

97. Pereira F, Carneiro J, Soares P, Maciel S, Nejmeddine F, Lenstra JA, Gusmão L, Amorim A

A multiplex primer extension assay for the rapid identification of paternal lineages in domestic goat (Capra hircus): Laying the foundations for a detailed caprine Y chromosome phylogeny. Molecular phylogenetics and evolution 49: 663-8, 2008.  [Article] 

 doi: 10.1016/j.ympev.2008.08.026 PMID: 18809503.

 

98. Manta F, Caiafa A, Pereira R, Silva D, Amorim A, Carvalho EF, Gusmão L

Indel markers: genetic diversity of 38 polymorphisms in Brazilian populations and application in a paternity investigation with post mortem material. Forensic science international. Genetics 6: 658-61, 2012.  [Article] 

 doi: 10.1016/j.fsigen.2011.12.008 PMID: 22277257.

 

99. Pinto N, Silva PV, Amorim A

A general method to assess the utility of the X-chromosomal markers in kinship testing. Forensic science international. Genetics 6: 198-207, 2012.  [Article] 

 doi: 10.1016/j.fsigen.2011.04.014 PMID: 21592877.

 

100. Azevedo L, Carneiro J, van Asch B, Moleirinho A, Pereira F, Amorim A

Epistatic interactions modulate the evolution of mammalian mitochondrial respiratory complex components. BMC genomics 10: 266, 2009.  [Article] 

 doi: 10.1186/1471-2164-10-266 PMID: 19523237.

 

101. Pereira R, Phillips C, Pinto N, Santos C, Dos Santos SE, Amorim A, Carracedo A, Gusmão L

Straightforward Inference of Ancestry and Admixture Proportions through Ancestry-Informative Insertion Deletion Multiplexing. PloS one 7: e29684, 2012.  [Article] 

 PMID: 22272242.

 

102. Machado P, Manco L, Gomes C, Mendes C, Fernandes N, Salomé G, Sitoe L, Chibute S, Langa J, Ribeiro L, Miranda J, Cano J, Pinto J, Amorim A, do Rosário VE, Arez AP

Pyruvate Kinase Deficiency in Sub-Saharan Africa: Identification of a Highly Frequent Missense Mutation (G829A;Glu277Lys) and Association with Malaria. PloS one 7: e47071, 2012.  [Article] 

 doi: 10.1371/journal.pone.0047071 PMID: 23082140.

 

103. Quental R, Azevedo L, Matthiesen R, Amorim A

Comparative analyses of the Conserved Oligomeric Golgi (COG) complex in vertebrates. BMC evolutionary biology 10: 212, 2010.  [Article] 

 doi: 10.1186/1471-2148-10-212 PMID: 20633274.

 

104. Martins S, Calafell F, Wong VC, Sequeiros J, Amorim A

A multistep mutation mechanism drives the evolution of the CAG repeat at MJD/SCA3 locus. European journal of human genetics : EJHG 14: 932-40, 2006.  [Article] 

 doi: 10.1038/sj.ejhg.5201643 PMID: 16724006.

 

105. Alves S, Prata MJ, Ferreira F, Amorim A

Screening of thiopurine S-methyltransferase mutations by horizontal conformation-sensitive gel electrophoresis. Human mutation 15: 246-53, 2000.  [Article] 

 doi: 10.1002/(SICI)1098-1004(200003)15:3<246::AID-HUMU5>3.0.CO;2-# PMID: 10679940.

 

106. Alves S, Ferreira F, Prata MJ, Amorim A

Characterization of three new VNTR alleles in the promoter region of the TPMT gene. Human mutation 15: 121, 2000.  [] 

 doi: 10.1002/(SICI)1098-1004(200001)15:1<121::AID-HUMU36>3.0.CO;2-X PMID: 10612847.

 

107. Seixas S, Garcia O, Amorim A, Rocha J

A novel alpha-1-antitrypsin r281del variant found in a population sample from the Basque country. Human mutation 15: 121-2, 2000.  [] 

 doi: 10.1002/(SICI)1098-1004(200001)15:1<121::AID-HUMU37>3.0.CO;2-U PMID: 10612848.

 

108. Lopes AM, Ross N, Close J, Dagnall A, Amorim A, Crow TJ

Inactivation status of PCDH11X: sexual dimorphisms in gene expression levels in brain. Human genetics 119: 267-75, 2006.  [Article] 

 doi: 10.1007/s00439-006-0134-0 PMID: 16425037.

 

109. Sharony R, Martins S, Costa IPD, Zaltzman R, Amorim A, Sequeiros J, Gordon CR

Yemenite-Jewish families with Machado-Joseph disease (MJD/SCA3) share a recent common ancestor. European journal of human genetics : EJHG 27: 1731-1737, 2019.  [Article] 

 doi: 10.1038/s41431-019-0449-7 PMID: 31189928.

 

110. Araujo R, Gungor O, Amorim A

Single-tube PCR coupled with mini-sequencing assay for the detection of cyp51A and cyp51B polymorphisms in Aspergillus fumigatus. Future microbiology 10: 1797-804, 2015.  [Article] 

 doi: 10.2217/fmb.15.103 PMID: 26515651.

 

111. van Asch B, Pinheiro R, Pereira R, Alves C, Pereira V, Pereira F, Gusmão L, Amorim A

A framework for the development of STR genotyping in domestic animal species: characterization and population study of 12 canine X-chromosome loci. Electrophoresis 31: 303-8, 2010.  [Article] 

 doi: 10.1002/elps.200900389 PMID: 20024924.

 

112. Capelli C, Onofri V, Brisighelli F, Boschi I, Scarnicci F, Masullo M, Ferri G, Tofanelli S, Tagliabracci A, Gusmao L, Amorim A, Gatto F, Kirin M, Merlitti D, Brion M, Verea AB, Romano V, Cali F, Pascali V

Moors and Saracens in Europe: estimating the medieval North African male legacy in southern Europe. European journal of human genetics : EJHG 17: 848-52, 2009.  [Article] 

 doi: 10.1038/ejhg.2008.258 PMID: 19156170.

 

113. Quental S, Vilarinho L, Martins E, Teles EL, Rodrigues E, Diogo L, Garcia P, Eusébio F, Gaspar A, Sequeira S, Amorim A, Prata MJ

Incidence of maple syrup urine disease in Portugal. Molecular genetics and metabolism 100: 385-7, 2010.  [Article] 

 doi: 10.1016/j.ymgme.2010.04.007 PMID: 20466570.

 

114. Sampaio P, Gusmão L, Correia A, Alves C, Rodrigues AG, Pina-Vaz C, Amorim A, Pais C

New microsatellite multiplex PCR for Candida albicans strain typing reveals microevolutionary changes. Journal of clinical microbiology 43: 3869-76, 2005.  [Article] 

 doi: 10.1128/JCM.43.8.3869-3876.2005 PMID: 16081924.

 

115. Ramos A, Santos C, Mateiu L, Gonzalez Mdel M, Alvarez L, Azevedo L, Amorim A, Aluja MP

Frequency and pattern of heteroplasmy in the complete human mitochondrial genome. PloS one 8: e74636, 2013.  [Article] 

 doi: 10.1371/journal.pone.0074636 PMID: 24098342.

 

116. Pereira F, Moreira C, Fonseca L, van Asch B, Mota M, Abrantes I, Amorim A

New Insights into the Phylogeny and Worldwide Dispersion of Two Closely Related Nematode Species, Bursaphelenchus xylophilus and Bursaphelenchus mucronatus. PloS one 8: e56288, 2013.  [Article] 

 doi: 10.1371/journal.pone.0056288 PMID: 23409167.

 

117. Caramalho R, Gusmão L, Lackner M, Amorim A, Araujo R

SNaPAfu: A Novel Single Nucleotide Polymorphism Multiplex Assay for Aspergillus fumigatus Direct Detection, Identification and Genotyping in Clinical Specimens. PloS one 8: e75968, 2013.  [Article] 

 doi: 10.1371/journal.pone.0075968 PMID: 24204585.

 

118. Eusebio N, Pinheiro T, Amorim AA, Gamboa F, Saraiva L, Gusmão L, Amorim A, Araujo R

SNaPaer: a practical single nucleotide polymorphism multiplex assay for genotyping of Pseudomonas aeruginosa. PloS one 8: e66083, 2013.  [Article] 

 doi: 10.1371/journal.pone.0066083 PMID: 23776608.

 

119. Carneiro J, Duarte-Pereira S, Azevedo L, Castro LF, Aguiar P, Moreira IS, Amorim A, Silva RM

The Evolutionary Portrait of Metazoan NAD Salvage. PloS one 8: e64674, 2013.  [Article] 

 doi: 10.1371/journal.pone.0064674 PMID: 23724078.

 

120. Teixeira-Silva A, Silva RM, Carneiro J, Amorim A, Azevedo L

The role of recombination in the origin and evolution of alu subfamilies. PloS one 8: e64884, 2013.  [Article] 

 doi: 10.1371/journal.pone.0064884 PMID: 23750218.

 

121. Costa IPD, Almeida BC, Sequeiros J, Amorim A, Martins S

A Pipeline to Assess Disease-Associated Haplotypes in Repeat Expansion Disorders: The Example of MJD/SCA3 Locus. Frontiers in genetics 10: 38, 2019.  [Article] 

 doi: 10.3389/fgene.2019.00038 PMID: 30804982.

 

122. Goios A, Gusmão L, Rocha AM, Fonseca A, Pereira L, Bogue M, Amorim A

Identification of mouse inbred strains through mitochondrial DNA single-nucleotide extension. Electrophoresis 29: 4795-802, 2008.  [Article] 

 doi: 10.1002/elps.200800313 PMID: 19053077.

 

123. Teixeira J, Amorim A, Araujo R

Recombination detection in Aspergillus fumigatus through single nucleotide polymorphisms typing. Environmental microbiology reports 7: 881-6, 2015.  [Article] 

 doi: 10.1111/1758-2229.12321 PMID: 26189756.

 

124. Sampaio P, Gusmão L, Alves C, Pina-Vaz C, Amorim A, Pais C

Highly polymorphic microsatellite for identification of Candida albicans strains. Journal of clinical microbiology 41: 552-7, 2003.  [Article] 

 PMID: 12574245.

 

125. Alves S, Amorim A, Prata MJ

Evolution of a VNTR located within the promoter region of the thiopurine methyltransferase gene: inferences from population and sequence data. Human genetics 111: 172-8, 2002.  [Article] 

 doi: 10.1007/s00439-002-0784-5 PMID: 12189491.

 

126. Santos D, Pimenta J, Wong VC, Amorim A, Martins S

Diversity in the androgen receptor CAG repeat has been shaped by a multistep mutational mechanism. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 165: 581-6, 2014.  [Article] 

 doi: 10.1002/ajmg.b.32261 PMID: 25078541.

 

127. Azevedo L, Serrano C, Amorim A, Cooper DN

Trans-species polymorphism in humans and the great apes is generally maintained by balancing selection that modulates the host immune response. Human genomics 9: 21, 2015.  [Review] 

 doi: 10.1186/s40246-015-0043-1 PMID: 26337052.

 

128. Oliveira E, Marsh S, van Booven D, Amorim A, Prata M, McLeod H

Pharmacogenetically relevant polymorphisms in Portugal. Pharmacogenomics 8: 703-712, 2007.  [Article] 

 doi: 10.2217/14622416.8.7.703 PMID: 18240903.

 

129. Oliveira M, Amorim A

Microbial forensics: new breakthroughs and future prospects. Applied microbiology and biotechnology 102: 10377-10391, 2018.  [Review] 

 doi: 10.1007/s00253-018-9414-6 PMID: 30302518.

 

130. Cardoso AR, Oliveira M, Amorim A, Azevedo L

Major influence of repetitive elements on disease-associated copy number variants (CNVs). Human genomics 10: 30, 2016.  [Review] 

 doi: 10.1186/s40246-016-0088-9 PMID: 27663310.

 

131. Quental R, Azevedo L, Rubio V, Diogo L, Amorim A

Molecular mechanisms underlying large genomic deletions in ornithine transcarbamylase (OTC) gene. Clinical genetics 75: 457-64, 2009.  [Article] 

 PMID: 19475717.

 

132. Ibarra A, Restrepo T, Rojas W, Castillo A, Amorim A, Martínez B, Burgos G, Ostos H, Alvarez K, Camacho M, Suarez Z, Pereira R, Gusmão L

Evaluating the x chromosome-specific diversity of colombian populations using insertion/deletion polymorphisms. PloS one 9: e87202, 2014.  [Article] 

 doi: 10.1371/journal.pone.0087202 PMID: 24498042.

 

133. Seixas S, Garcia O, Trovoada MJ, Santos MT, Amorim A, Rocha J

Patterns of haplotype diversity within the serpin gene cluster at 14q32.1: insights into the natural history of the alpha1-antitrypsin polymorphism. Human genetics 108: 20-30, 2001.  [Article] 

 PMID: 11214903.

 

134. Pinto N, Magalhães M, Conde-Sousa E, Gomes C, Pereira R, Alves C, Gusmão L, Amorim A

Assessing paternities with inconclusive STR results: The suitability of bi-allelic markers. Forensic science international. Genetics 7: 16-21, 2013.  [Article] 

 doi: 10.1016/j.fsigen.2012.05.002 PMID: 22658886.

 

135. Mairal Q, Santos C, Silva M, Marques SL, Ramos A, Aluja MP, Amorim A, Prata MJ, Alvarez L

Linguistic isolates in Portugal: Insights from the mitochondrial DNA pattern. Forensic science international. Genetics 7: 618-23, 2013.  [Article] 

 doi: 10.1016/j.fsigen.2013.08.009 PMID: 24041913.

 

136. Pinto N, Gusmão L, Egeland T, Amorim A

Paternity exclusion power: comparative behaviour of autosomal and X-chromosomal markers in standard and deficient cases with inbreeding. Forensic science international. Genetics 7: 290-5, 2013.  [Article] 

 doi: 10.1016/j.fsigen.2012.12.002 PMID: 23312390.

 

137. Gil A, Castillo A, Rodríguez F, Amorim A, Gusmão L

Linkage between HPRTB STR alleles and Lesch-Nyhan syndrome inside a family: Implications in forensic casework. Forensic science international. Genetics 7: e5-6, 2013.  [Letter] 

 doi: 10.1016/j.fsigen.2012.09.005 PMID: 23063963.

 

138. Pereira V, Tomas C, Pietroni C, Andersen JD, Fordyce SL, Pinto N, Mikkelsen M, Borsting C, Amorim A, Gusmão L, Prata MJ, Morling N

Assessing the potential application of X-chromosomal haploblocks in population genetics and forensic studies Forensic science international. Genetics 4: e9-e10, 2013.  [] 

.

 

139. Pinto N, Gusmão L, Egeland T, Amorim A

Estimating relatedness with no prior specification of any genealogy: The role of the X-chromosome Forensic science international. Genetics 4: e252-e253, 2013.  [] 

.

 

140. Birolo L, Amorim A, Alves C, Mesquita AGG, Gusmão L

Analysis of 15 autosomal STR loci in the population of the State of Acre, Brazilian Amazonia Forensic science international. Genetics 4: e11-e12, 2013.  [] 

.

 

141. Lopes AM, Miguel RN, Sargent CA, Ellis PJ, Amorim A, Affara NA

The human RPS4 paralogue on Yq11.223 encodes a structurally conserved ribosomal protein and is preferentially expressed during spermatogenesis. BMC molecular biology 11: 33, 2010.  [Article] 

 doi: 10.1186/1471-2199-11-33 PMID: 20459660.

 

142. Alves C, Silva F, Gusmão L, Seruca R, Soares P, Reis RM, Amorim A

Extended structural variation of a pentanucleotide repeat in the GSTP1 gene: characterisation in a normal population and in thyroid and gastric tumours. European journal of human genetics : EJHG 8: 540-4, 2000.  [Article] 

 doi: 10.1038/sj.ejhg.5200486 PMID: 10909855.

 

143. Silva F, Carvalho F, Peixoto A, Seixas M, Almeida R, Carneiro F, Mesquita P, Figueiredo C, Nogueira C, Swallow DM, Amorim A, David L

MUC1 gene polymorphism in the gastric carcinogenesis pathway. European journal of human genetics : EJHG 9: 548-52, 2001.  [Article] 

 doi: 10.1038/sj.ejhg.5200677 PMID: 11464247.

 

144. Dupanloup I, Pereira L, Bertorelle G, Calafell F, Prata MJ, Amorim A, Barbujani G

A recent shift from polygyny to monogamy in humans is suggested by the analysis of worldwide Y-chromosome diversity. Journal of molecular evolution 57: 85-97, 2003.  [Article] 

 doi: 10.1007/s00239-003-2458-x PMID: 12962309.

 

145. Araujo R, Amorim A, Gusmão L

Diversity and specificity of microsatellites within Aspergillus section Fumigati. BMC microbiology 12: 154, 2012.  [Article] 

 doi: 10.1186/1471-2180-12-154 PMID: 22838495.

 

146. Pinto N, Gusmão L, Amorim A

X-chromosome markers in kinship testing: a generalisation of the IBD approach identifying situations where their contribution is crucial. Forensic science international. Genetics 5: 27-32, 2011.  [Article] 

 doi: 10.1016/j.fsigen.2010.01.011 PMID: 20457080.

 

147. Pereira V, Tomas C, Amorim A, Morling N, Gusmão L, Prata MJ

Study of 25 X-chromosome SNPs in the Portuguese. Forensic science international. Genetics 5: 336-8, 2011.  [Article] 

 doi: 10.1016/j.fsigen.2010.10.004 PMID: 21036684.

 

148. Amorim A

A comment on "The hare and the tortoise: one small step for four SNPs, one giant leap for SNP-kind". Forensic science international. Genetics 5: 358-60; discussion 361-2, 2011.  [Editorial Material] 

 doi: 10.1016/j.fsigen.2010.04.002 PMID: 20452848.

 

149. van Asch B, Pereira R, Carneiro J, Amorim A

Population assignment in seven Portuguese dog breeds and Iberian wolves Forensic science international. Genetics  556-557, 2011.  [] 

 doi: 10.1016/j.fsigss.2011.10.019.

 

150. Teixeira JC, Nogueiro I, Goios A, Gusmão L, Amorim A, Alvarez L

Mitochondrial DNA-control region sequence variation in the NE Portuguese Jewish community Forensic science international. Genetics  1, 2011.  [] 

 doi: 10.1016/j.fsigss.2011.08.025.

 

151. Magalhães M, Pinto N, Gomes C, Pereira R, Amorim A, Alves C, Gusmão L

When the alleged father is a close relative of the real father: the utility of insertion/deletion
polymorphisms Forensic science international. Genetics  1, 2011.  [] 

 doi: 10.1016/j.fsigss.2011.08.004.

 

152. Pereira V, Moncada E, Diez IE, Tomas C, Amorim A, Morling N, Gusmão L, Prata MJ

Genetic characterization of Somali and Iraqi populations  using a set of 33 X-chromosome Indels Forensic science international. Genetics  1, 2011.  [] 

 doi: 10.1016/j.fsigss.2011.08.069.

 

153. Pereira R, Phillips C, Alves C, Amorim A, Carracedo A, Gusmão L

A new multiplex for human identification using insertion/deletion polymorphisms. Electrophoresis 30: 3682-90, 2009.  [Article] 

 doi: 10.1002/elps.200900274 PMID: 19862748.

 

154. van Asch B, Alves C, Gusmão L, Pereira V, Pereira F, Amorim A

A new autosomal STR nineplex for canine identification and parentage testing. Electrophoresis 30: 417-23, 2009.  [Article] 

 doi: 10.1002/elps.200800307 PMID: 19204943.

 

155. Xavier C, Builes JJ, Gomes V, Ospino JM, Aquino J, Parson W, Amorim A, Gusmão L, Goios A

Admixture and genetic diversity distribution patterns of non-recombining lineages of native american ancestry in colombian populations. PloS one 10: e0120155, 2015.  [Article] 

 doi: 10.1371/journal.pone.0120155 PMID: 25775361.

 

156. Moleirinho A, Lopes AM, Seixas S, Morales-Hojas R, Prata MJ, Amorim A

Distinctive Patterns of Evolution of the d-Globin Gene (HBD) in Primates. PloS one 10: e0123365, 2015.  [Article] 

 doi: 10.1371/journal.pone.0123365 PMID: 25853817.

 

157. Soares I, Moleirinho A, Oliveira GN, Amorim A

DivStat: a user-friendly tool for single nucleotide polymorphism analysis of genomic diversity. PloS one 10: e0119851, 2015.  [Article] 

 doi: 10.1371/journal.pone.0119851 PMID: 25756185.

 

158. Serrano R, Gusmão L, Amorim A, Araujo R

Rapid identification of Aspergillus fumigatus within the section Fumigati. BMC microbiology 11: 82, 2011.  [Article] 

 doi: 10.1186/1471-2180-11-82 PMID: 21510879.

 

159. Gomes I, Prinz M, Pereira R, Meyers C, Mikulasovich RS, Amorim A, Carracedo A, Gusmão L

Genetic analysis of three US population groups using an X-chromosomal STR decaplex. International journal of legal medicine 121: 198-203, 2007.  [Article] 

 doi: 10.1007/s00414-006-0146-2 PMID: 17237948.

 

160. Pereira R, Gomes I, Amorim A, Gusmão L

Genetic diversity of 10 X chromosome STRs in northern Portugal. International journal of legal medicine 121: 192-7, 2007.  [Article] 

 doi: 10.1007/s00414-006-0144-4 PMID: 17206433.

 

161. Domingues PM, Gusmão L, da Silva DA, Amorim A, Pereira RW, de Carvalho EF

Sub-Saharan Africa descendents in Rio de Janeiro (Brazil): population and mutational data for 12 Y-STR loci. International journal of legal medicine 121: 238-41, 2007.  [Article] 

 doi: 10.1007/s00414-007-0154-x PMID: 17334737.

 

162. Santos S, Oliveira M, Amorim A, van Asch B

A forensic perspective on the genetic identification of grapevine (Vitis vinifera L.) varieties using STR markers. Electrophoresis 35: 3201-7, 2014.  [Review] 

 doi: 10.1002/elps.201400107 PMID: 25146979.

 

163. Seabra CM, Quental S, Neto AP, Carvalho F, Gonçalves J, Oliveira JP, Fernandes S, Sousa M, Barros A, Amorim A, Lopes AM

A novel Alu-mediated microdeletion at 11p13 removes WT1 in a patient with cryptorchidism and azoospermia. Reproductive biomedicine online 29: 388-91, 2014.  [Article] 

 doi: 10.1016/j.rbmo.2014.04.017 PMID: 24912414.

 

164. Gonçalves J, Pereira F, Amorim A, van Asch B

New method for the simultaneous identification of cow, sheep, goat, and water buffalo in dairy products by analysis of short species-specific mitochondrial DNA targets. Journal of agricultural and food chemistry 60: 10480-5, 2012.  [Article] 

 doi: 10.1021/jf3029896 PMID: 23025240.

 

165. Lopes AM, Arnold-Croop SE, Amorim A, Carrel L

Clustered transcripts that escape X inactivation at mouse XqD. Mammalian genome : official journal of the International Mammalian Genome Society 22: 572-82, 2011.  [Article] 

 doi: 10.1007/s00335-011-9350-6 PMID: 21769671.

 

166. van Asch B, Alves C, Santos L, Pinheiro R, Pereira F, Gusmão L, Amorim A

Genetic profiles and sex identification of found-dead wolves determined by the use of an 11-loci PCR multiplex. Forensic science international. Genetics 4: 68-72, 2010.  [Article] 

 doi: 10.1016/j.fsigen.2009.05.003 PMID: 20129463.

 

167. Gomes V, Alves C, Amorim A, Carracedo A, Sánchez-Diz P, Gusmão L

Nilotes from Karamoja, Uganda: haplotype data defined by 17 Y-chromosome STRs. Forensic science international. Genetics 4: e83-6, 2010.  [Article] 

 doi: 10.1016/j.fsigen.2009.07.001 PMID: 20457037.

 

168. Pinto N, Gusmão L, Amorim A

Likelihood ratios in kinship analysis: contrasting kinship classes, not genealogies. Forensic science international. Genetics 4: 218-9, 2010.  [Letter] 

 doi: 10.1016/j.fsigen.2009.06.010 PMID: 20215036.

 

169. Vullo C, Gomes V, Romanini C, Oliveira AM, Rocabado O, Aquino J, Amorim A, Gusmão L

Association between Y haplogroups and autosomal AIMs reveals intra-population substructure in Bolivian populations. International journal of legal medicine 129: 673-80, 2015.  [Article] 

 doi: 10.1007/s00414-014-1025-x PMID: 24878616.

 

170. Araujo R, Oliveira M, Amorim A, Sampaio-Maia B

Unpredictable susceptibility of emerging clinical moulds to tri-azoles: review of the literature and upcoming challenges for mould identification. European journal of clinical microbiology & infectious diseases : official publication of the European Society of Clinical Microbiology 34: 1289-301, 2015.  [Review] 

 doi: 10.1007/s10096-015-2374-1 PMID: 25894985.

 

171. van Asch B, Silva Santos L, Carneiro J, Pereira F, Amorim A

Identification of mtDNA Lineages of Sus scrofa by Multiplex Single Base Extension for the Authentication of Processed Food Products. Journal of agricultural and food chemistry 59: 6920-6926, 2011.  [Article] 

 doi: 10.1021/jf201283r PMID: 21688854.

 

172. Gusmão L, Sánchez-Diz P, Alves C, Gomes I, Zarrabeitia MT, Abovich M, Atmetlla I, Bobillo C, Bravo L, Builes J, Cainé L, Calvo R, Carvalho E, Carvalho M, Cicarelli R, Catelli L, Corach D, Espinoza M, García O, Malaghini M, Martins J, Pinheiro F, João Porto M, Raimondi E, Riancho JA, Rodríguez A, Rodríguez A, Rodríguez Cardozo B, Schneider V, Silva S, Tavares C, Toscanini U, Vullo C, Whittle M, Yurrebaso I, Carracedo A, Amorim A

A GEP-ISFG collaborative study on the optimization of an X-STR decaplex: data on 15 Iberian and Latin American populations. International journal of legal medicine 123: 227-34, 2009.  [Article] 

 doi: 10.1007/s00414-008-0309-4 PMID: 19082839.

 

173. Gomes I, Prinz M, Pereira R, Bieschke E, Mayr WR, Amorim A, Carracedo A, Gusmão L

X-chromosome STR sequence variation, repeat structure, and nomenclature in humans and chimpanzees. International journal of legal medicine 123: 143-9, 2009.  [Article] 

 doi: 10.1007/s00414-008-0303-x PMID: 19082840.

 

174. Gomes I, Pereira R, Mayr WR, Amorim A, Carracedo A, Gusmão L

Evaluation of DXS9902, DXS7132, DXS6809, DXS7133, and DXS7423 in humans and chimpanzees: sequence variation, repeat structure, and nomenclature. International journal of legal medicine 123: 403-12, 2009.  [Article] 

 doi: 10.1007/s00414-009-0357-4 PMID: 19536558.

 

175. Rodrigues EM, dos Santos NP, dos Santos AK, Marinho AN, Zago MA, Gomes I, Amorim A, Gusmão L, dos Santos SE

An INDEL polymorphism at the X-STR GATA172D05 flanking region. International journal of legal medicine 123: 89-94, 2009.  [Article] 

 doi: 10.1007/s00414-008-0300-0 PMID: 19048268.

 

176. Beleza S, Gusmão L, Lopes A, Alves C, Gomes I, Giouzeli M, Calafell F, Carracedo A, Amorim A

Micro-phylogeographic and demographic history of Portuguese male lineages. Annals of human genetics 70: 181-94, 2006.  [Article] 

 doi: 10.1111/j.1529-8817.2005.00221.x PMID: 16626329.

 

177. Azevedo L, Soares PA, Quental R, Vilarinho L, Teles EL, Martins E, Diogo L, Garcia P, Cenni B, Wermuth B, Amorim A

Mutational spectrum and linkage disequilibrium patterns at the ornithine transcarbamylase gene (OTC). Annals of human genetics 70: 797-801, 2006.  [Article] 

 doi: 10.1111/j.1469-1809.2006.00283.x PMID: 17044854.

 

178. Alves J, Machado P, Silva J, Gonçalves N, Ribeiro L, Faustino P, do Rosário VE, Manco L, Gusmão L, Amorim A, Arez AP

Analysis of malaria associated genetic traits in Cabo Verde, a melting pot of European and sub Saharan settlers. Blood cells, molecules & diseases 44: 62-8, 2010.  [Article] 

 doi: 10.1016/j.bcmd.2009.09.008 PMID: 19837619.

 

179. Munar-Qués M, Pedrosa JL, Coelho T, Gusmão L, Seruca R, Amorim A, Sequeiros J

Two pairs of proven monozygotic twins discordant for familial amyloid neuropathy (FAP) TTR Met 30. Journal of medical genetics 36: 629-32, 1999.  [Article] 

 PMID: 10465115.

 

180. Nogueiro I, Manco L, Gomes V, Amorim A, Gusmão L

Phylogeographic analysis of paternal lineages in NE Portuguese Jewish communities. American journal of physical anthropology 141: 373-81, 2010.  [Article] 

 doi: 10.1002/ajpa.21154 PMID: 19918998.

 

181. Toscanini U, Gusmão L, Berardi G, Gomes V, Amorim A, Salas A, Raimondi E

Male lineages in South American native groups: evidence of M19 traveling south. American journal of physical anthropology 146: 188-96, 2011.  [Article] 

 doi: 10.1002/ajpa.21562 PMID: 21826635.

 

182. Gusmão A, Valente C, Gomes V, Alves C, Amorim A, Prata MJ, Gusmão L

A genetic historical sketch of European Gypsies: The perspective from autosomal markers. American journal of physical anthropology 141: 507-14, 2010.  [Article] 

 doi: 10.1002/ajpa.21166 PMID: 19918999.

 

183. Quental S, Martins E, Vilarinho L, Amorim A, João Prata M

Maple syrup urine disease due to a new large deletion at BCKDHA caused by non-homologous recombination. Journal of inherited metabolic disease 31 Suppl 2: 457-60, 2008.  [Article] 

 doi: 10.1007/s10545-008-1046-z PMID: 19085071.

 

184. Pereira R, Pereira V, Gomes I, Tomas C, Morling N, Amorim A, Prata MJ, Carracedo A, Gusmão L

A method for the analysis of 32 X chromosome insertion deletion polymorphisms in a single PCR. International journal of legal medicine 126: 97-105, 2012.  [Article] 

 doi: 10.1007/s00414-011-0593-2 PMID: 21717151.

 

185. Gomes C, Magalhães M, Alves C, Amorim A, Pinto N, Gusmão L

Comparative evaluation of alternative batteries of genetic markers to complement autosomal STRs in kinship investigations: autosomal indels vs. X-chromosome STRs. International journal of legal medicine 126: 917-21, 2012.  [Article] 

 doi: 10.1007/s00414-012-0768-5 PMID: 22940765.

 

186. Trovoada MJ, Pereira L, Gusmão L, Abade A, Amorim A, Prata MJ

Pattern of mtDNA variation in three populations from São Tomé e Príncipe. Annals of human genetics 68: 40-54, 2004.  [Article] 

 PMID: 14748829.

 

187. Alves S, Rocha J, Amorim A, Prata MJ

Tracing the origin of the most common thiopurine methyltransferase (TPMT) variants: preliminary data from the patterns of haplotypic association with two CA repeats. Annals of human genetics 68: 313-23, 2004.  [Article] 

 doi: 10.1046/j.1529-8817.2004.00104.x PMID: 15225157.

 

188. Quental S, Macedo-Ribeiro S, Matos R, Vilarinho L, Martins E, Teles EL, Rodrigues E, Diogo L, Garcia P, Eusébio F, Gaspar A, Sequeira S, Furtado F, Lança I, Amorim A, Prata MJ

Molecular and structural analyses of maple syrup urine disease and identification of a founder mutation in a Portuguese Gypsy community. Molecular genetics and metabolism 94: 148-56, 2008.  [Article] 

 doi: 10.1016/j.ymgme.2008.02.008 PMID: 18378174.

 

189. van Asch B, Pereira F, Santos LS, Carneiro J, Santos N, Amorim A

Mitochondrial lineages reveal intense gene flow between Iberian wild boars and South Iberian pig breeds. Animal genetics 43: 35-41, 2012.  [Article] 

 doi: 10.1111/j.1365-2052.2011.02222.x PMID: 22221023.

 

190. Sánchez-Diz P, Alves C, Carvalho E, Carvalho M, Espinheira R, García O, Pinheiro MF, Pontes L, Porto MJ, Santapa O, Silva C, Sumita D, Valente S, Whittle M, Yurrebaso I, Carracedo A, Amorim A, Gusmão L,

Population and segregation data on 17 Y-STRs: results of a GEP-ISFG collaborative study. International journal of legal medicine 122: 529-33, 2008.  [Article] 

 doi: 10.1007/s00414-008-0265-z PMID: 18651159.

 

191. Goios A, Prieto L, Amorim A, Pereira L

Specificity of mtDNA-directed PCR-influence of NUclear MTDNA insertion (NUMT) contamination in routine samples and techniques. International journal of legal medicine 122: 341-5, 2008.  [Article] 

 doi: 10.1007/s00414-007-0191-5 PMID: 17874117.

 

192. Pico A, Castillo A, Vargas C, Amorim A, Gusmão L

Genetic profile characterization and segregation analysis of 10 X-STRs in a sample from Santander, Colombia. International journal of legal medicine 122: 347-51, 2008.  [Article] 

 doi: 10.1007/s00414-007-0215-1 PMID: 18327601.

 

193. Cardoso AR, Lopes-Marques M, Silva RM, Serrano C, Amorim A, Prata MJ, Azevedo L

Essential genetic findings in neurodevelopmental disorders. Human genomics 13: 31, 2019.  [Review] 

 doi: 10.1186/s40246-019-0216-4 PMID: 31288856.

 

194. Lima AC, Carvalho F, Gonçalves J, Fernandes S, Marques PI, Sousa M, Barros A, Seixas S, Amorim A, Conrad DF, Lopes AM

Rare double sex and mab-3-related transcription factor 1 regulatory variants in severe spermatogenic failure. Andrology 3: 825-33, 2015.  [Article] 

 doi: 10.1111/andr.12063 PMID: 26139570.

 

195. Vilarinho L, Tafulo S, Sibilio M, Kok F, Fontana F, Diogo L, Venâncio M, Ferreira M, Nogueira C, Valongo C, Parenti G, Amorim A, Azevedo L

Identification of novel L2HGDH gene mutations and update of the pathological spectrum. Journal of human genetics 55: 55-8, 2010.  [Article] 

 doi: 10.1038/jhg.2009.110 PMID: 19911013.

 

196. Pereira V, Gusmão L, Valente C, Pereira R, Carneiro J, Gomes I, Morling N, Amorim A, João Prata M

Refining the genetic portrait of Portuguese Roma through X-chromosomal markers. American journal of physical anthropology 148: 389-94, 2012.  [Article] 

 doi: 10.1002/ajpa.22061 PMID: 22576185.

 

197. Azevedo L, Vilarinho L, Teles EL, Amorim A

Ornithine transcarbamylase deficiency: a novel splice site mutation in a family with meiotic recombination and a new useful SNP for diagnosis. Molecular genetics and metabolism 76: 68-70, 2002.  [Article] 

 PMID: 12175783.

 

198. Alves J M., Lopes A M, Chikhi L, Amorim A

On the Structural Plasticity of the Human Genome: Chromosomal Inversions Revisited Current genomics 13: 623-632, 2012.  [Article] 

.

 

199. Oliveira M, Lackner M, Amorim A, Araujo R

Feasibility of mitochondrial single nucleotide polymorphisms to detect and identify Aspergillus fumigatus in clinical samples. Diagnostic microbiology and infectious disease 80: 53-8, 2014.  [Article] 

 doi: 10.1016/j.diagmicrobio.2014.05.007 PMID: 24998456.

 

200. Gomes I, Pereira V, Gomes V, Prata MJ, Pinto N, Carracedo A, Amorim A, Gusmão L

The Karimojong from Uganda: genetic characterization using an X-STR decaplex system. Forensic science international. Genetics 3: e127-8, 2009.  [Article] 

 doi: 10.1016/j.fsigen.2008.10.009 PMID: 19647697.

 

201. van Asch B, Albarran C, Alonso A, Angulo R, Alves C, Betancor E, Catanesi CI, Corach D, Crespillo M, Doutremepuich C, Estonba A, Fernandes AT, Fernandez E, Garcia AM, Garcia MA, Gilardi P, Gonçalves R, Hernández A, Lima G, Nascimento E, de Pancorbo MM, Parra D, Pinheiro Mde F, Prat E, Puente J, Ramírez JL, Rendo F, Rey I, Di Rocco F, Rodríguez A, Sala A, Salla J, Sanchez JJ, Solá D, Silva S, Pestano Brito JJ, Amorim A

Forensic analysis of dog (Canis lupus familiaris) mitochondrial DNA sequences: an inter-laboratory study of the GEP-ISFG working group. Forensic science international. Genetics 4: 49-54, 2009.  [Article] 

 doi: 10.1016/j.fsigen.2009.04.008 PMID: 19948334.

 

202. Gomes V, Sánchez-Diz P, Alves C, Gomes I, Amorim A, Carracedo A, Gusmão L

Population data defined by 15 autosomal STR loci in Karamoja population (Uganda) using AmpF/STR Identifiler kit. Forensic science international. Genetics 3: e55-8, 2009.  [Article] 

 doi: 10.1016/j.fsigen.2008.06.005 PMID: 19215869.

 

203. Gomes I, Amorim A, Pereira V, Carracedo A, Gusmão L

Genetic patterns of 10 X chromosome short tandem repeats in an Asian population from Macau. Forensic science international. Genetics  1, 2009.  [] 

 doi: 10.1016/j.fsigg.2009.09.009.

 

204. Pereira R, Phillips C, Alves C, Amorim A, Carracedo A, Gusmão L

Insertion/deletion polymorphisms: A multiplex assay and forensic applications Forensic science international. Genetics  1875-1768, 2009.  [] 

 doi: 10.1016/j.fsigss.2009.09.005.

 

205. Valente C, Gomes I, Pereira V, Amorim A, Gusmão L, Prata MJ

Association between STRs from the X chromosome in a sample of Portuguese Gypsies. Forensic science international. Genetics  1, 2009.  [] 

 doi: 10.1016/j.fsigss.2009.08.113.

 

206. Araújo R, Amorim A, Gusmão L

Microbial forensics: do Aspergillus fumigatus strains present local or regional differentiation? Forensic science international. Genetics  297-299, 2009.  [] 

 doi: 10.1016/j.fsigss.2009.08.145.

 

207. Pinto N, Gusmão L, Amorim A

Distinguishing kinship from genealogical likelihoods Forensic Sci Int: Genetics  453-454, 2009.  [] 

.

 

208. Goios A, Amorim A

Identifying NUMT contamination in mtDNA analyses
Ana Goios Forensic Sci Int: Genetics  278-280, 2009.  [] 

 doi: 10.1016/j.fsigss.2009.08.076.

 

209. Pereira-Castro I, Costa LT, Amorim A, Azevedo L

Transcriptional regulation of the human mitochondrial peptide deformylase (PDF). Biochemical and biophysical research communications 421: 825-31, 2012.  [Article] 

 doi: 10.1016/j.bbrc.2012.04.097 PMID: 22554513.

 

210. Cherni L, Fernandes V, Pereira JB, Costa MD, Goios A, Frigi S, Yacoubi-Loueslati B, Amor MB, Slama A, Amorim A, El Gaaied AB, Pereira L

Post-last glacial maximum expansion from Iberia to North Africa revealed by fine characterization of mtDNA H haplogroup in Tunisia American journal of physical anthropology 139: 253-260, 2008.  [Article] 

 doi: 10.1002/ajpa.20979 PMID: 19090581.

 

211. Lopes-Marques M, Pereira-Castro I, Amorim A, Azevedo L

Characterization of the human ornithine transcarbamylase 3' untranslated regulatory region. DNA and cell biology 31: 427-33, 2012.  [Article] 

 doi: 10.1089/dna.2011.1391 PMID: 22054066.

 

212. Pinto N, Silva PV, Amorim A

General derivation of the sets of pedigrees with the same kinship coefficients. Human heredity 70: 194-204, 2010.  [Article] 

 doi: 10.1159/000316390 PMID: 20720433.

 

213. Araujo R, Amorim A, Gusmão L

Genetic diversity of Aspergillus fumigatus in indoor hospital environments. Medical mycology 48: 832-8, 2010.  [Article] 

 doi: 10.3109/13693780903575360 PMID: 20136576.

 

214. Bertagnolli AC, Soares P, van Asch B, Amorim A, Cirnes L, Máximo V, Cassali GD

An assessment of the clonality of the components of canine mixed mammary tumours by mitochondrial DNA analysis. Veterinary journal (London, England : 1997) 182: 269-74, 2009.  [Article] 

 doi: 10.1016/j.tvjl.2008.07.005 PMID: 18752974.

 

215. Quental R, Moleirinho A, Azevedo L, Amorim A

Evolutionary history and functional diversification of phosphomannomutase genes. Journal of molecular evolution 71: 119-27, 2010.  [Article] 

 doi: 10.1007/s00239-010-9368-5 PMID: 20661555.

 

216. Pereira L, Gonçalves J, Goios A, Rocha T, Amorim A

Human mtDNA haplogroups and reduced male fertility: real association or hidden population substructuring. International journal of andrology 28: 241-7, 2005.  [Article] 

 doi: 10.1111/j.1365-2605.2005.00539.x PMID: 16048637.

 

217. Quelhas D, Quental R, Vilarinho L, Amorim A, Azevedo L

Congenital disorder of glycosylation type Ia: searching for the origin of common mutations in PMM2. Annals of human genetics 71: 348-53, 2007.  [Article] 

 doi: 10.1111/j.1469-1809.2006.00334.x PMID: 17166182.

 

218. Trovoada MJ, Tavares L, Gusmão L, Alves C, Abade A, Amorim A, Prata MJ

Dissecting the genetic history of São Tomé e Príncipe: a new window from Y-chromosome biallelic markers. Annals of human genetics 71: 77-85, 2007.  [Article] 

 doi: 10.1111/j.1469-1809.2006.00309.x PMID: 17227478.

 

219. Brehm A, Pereira L, Bandelt HJ, Prata MJ, Amorim A

Mitochondrial portrait of the Cabo Verde archipelago: the Senegambian outpost of Atlantic slave trade. Annals of human genetics 66: 49-60, 2002.  [Article] 

 doi: doi:10.1017/S0003480001001002 PMID: 12015000.

 

220. Pereira L, Gusmão L, Alves C, Amorim A, Prata MJ

Bantu and European Y-lineages in Sub-Saharan Africa. Annals of human genetics 66: 369-78, 2002.  [Article] 

 doi: doi:10.1017/S0003480002001306 PMID: 12485470.

 

221. Azevedo L, Calafell F, Vilarinho L, Amorim A

Haplotype analysis and phylogeny of ornithine transcarbamylase polymorphisms. Annals of human genetics 66: 379-85, 2002.  [Article] 

 PMID: 12516615.

 

222. Gusmão A, Gusmão L, Gomes V, Alves C, Calafell F, Amorim A, Prata MJ

A perspective on the history of the Iberian gypsies provided by phylogeographic analysis of Y-chromosome lineages. Annals of human genetics 72: 215-27, 2008.  [Article] 

 doi: 10.1111/j.1469-1809.2007.00421.x PMID: 18205888.

 

223. de Souza Góes AC, de Carvalho EF, Gomes I, da Silva DA, Gil EH, Amorim A, Gusmão L

Population and mutation analysis of 17 Y-STR loci from Rio de Janeiro (Brazil). International journal of legal medicine 119: 70-6, 2005.  [Article] 

 doi: 10.1007/s00414-004-0504-x PMID: 15565296.

 

224. Diederiche M, Martín P, Amorim A, Corte-Real F, Gusmão L

A case of double alleles at three Y-STR loci: forensic implications. International journal of legal medicine 119: 223-5, 2005.  [Article] 

 doi: 10.1007/s00414-005-0526-z PMID: 15690182.

 

225. Goios A, Meirinhos J, Rocha R, Lopes R, Amorim A, Pereira L

RepeatAround: A software tool for finding and visualizing repeats in circular genomes and its application to a human mtDNA database. Mitochondrion 6: 218-24, 2006.  [Article] 

 doi: 10.1016/j.mito.2006.06.001 PMID: 16854633.

 

226. Oliveira E, Quental S, Alves S, Amorim A, Prata MJ

Do the distribution patterns of polymorphisms at the thiopurine S-methyltransferase locus in sub-Saharan populations need revision? Hints from Cabinda and Mozambique. European journal of clinical pharmacology 63: 703-6, 2007.  [Article] 

 doi: 10.1007/s00228-007-0310-8 PMID: 17473918.

 

227. Alonso A, Alves C, Suárez-Mier MP, Albarrán C, Pereira L, Fernández de Simón L, Martín P, García O, Gusmão L, Sancho M, Amorim A

Mitochondrial DNA haplotyping revealed the presence of mixed up benign and neoplastic tissue sections from two individuals on the same prostatic biopsy slide. Journal of clinical pathology 58: 83-6, 2005.  [Article] 

 doi: 10.1136/jcp.2004.017673 PMID: 15623490.

 

228. Valente C, Alvarez L, Marks SJ, Lopez-Parra AM, Parson W, Oosthuizen O, Oosthuizen E, Amorim A, Capelli C, Arroyo-Pardo E, Gusmão L, Prata MJ

Exploring the relationship between lifestyles, diets and genetic adaptations in humans. BMC genetics 16: 55, 2015.  [Article] 

 doi: 10.1186/s12863-015-0212-1 PMID: 26018448.

 

229. Pereira L, Prata MJ, Amorim A

Diversity of mtDNA lineages in Portugal: not a genetic edge of European variation. Annals of human genetics 64: 491-506, 2000.  [Article] 

 PMID: 11281213.

 

230. López-Parra AM, Gusmão L, Tavares L, Baeza C, Amorim A, Mesa MS, Prata MJ, Arroyo-Pardo E

In search of the pre- and post-neolithic genetic substrates in Iberia: evidence from Y-chromosome in Pyrenean populations. Annals of human genetics 73: 42-53, 2009.  [Article] 

 doi: 10.1111/j.1469-1809.2008.00478.x PMID: 18803634.

 

231. Quental S, Gusmão A, Rodríguez-Pombo P, Ugarte M, Vilarinho L, Amorim A, Prata MJ

Revisiting MSUD in Portuguese Gypsies: evidence for a founder mutation and for a mutational hotspot within the BCKDHA gene. Annals of human genetics 73: 298-303, 2009.  [Article] 

 doi: 10.1111/j.1469-1809.2009.00518.x PMID: 19456321.

 

232. Picanço JB, Raimann PE, Paskulin GA, Alvarez L, Amorim A, Batista Dos Santos SE, Alho CS

Tri-allelic pattern at the TPOX locus: A familial study. Gene 535: 353-8, 2014.  [Article] 

 doi: 10.1016/j.gene.2013.10.019 PMID: 24144843.

 

233. Pereira L, Macaulay V, Torroni A, Scozzari R, Prata MJ, Amorim A

Prehistoric and historic traces in the mtDNA of Mozambique: insights into the Bantu expansions and the slave trade. Annals of human genetics 65: 439-58, 2001.  [Article] 

 doi: doi:10.1017/S0003480001008855 PMID: 11806853.

 

234. Bandelt HJ, Alves-Silva J, Guimarães PE, Santos MS, Brehm A, Pereira L, Coppa A, Larruga JM, Rengo C, Scozzari R, Torroni A, Prata MJ, Amorim A, Prado VF, Pena SD

Phylogeography of the human mitochondrial haplogroup L3e: a snapshot of African prehistory and Atlantic slave trade. Annals of human genetics 65: 549-63, 2001.  [Article] 

 doi: doi:10.1017/S0003480001008892 PMID: 11851985.

 

235. Gusmão L, Alves C, Amorim A

Molecular characterisation of four human Y-specific microsatellites (DYS434, DYD437, DYS438, DYS439) for poulation and forensic studies. Annals of human genetics 65: 285-91, 2001.  [Article] 

 doi: 10.1046/j.1469-1809.2001.6530285.x PMID: 11446371.

 

236. Trovoada MJ, Alves C, Gusmão L, Abade A, Amorim A, Prata MJ

Evidence for population sub-structuring in São Tomé e Príncipe as inferred from Y-chromosome STR analysis. Annals of human genetics 65: 271-83, 2001.  [Article] 

 doi: doi:10.1017/S0003480001008648 PMID: 11427185.

 

237. Ribeiro-Rodrigues EM, dos Santos NP, dos Santos AK, Pereira R, Amorim A, Gusmão L, Zago MA, dos Santos SE

Assessing interethnic admixture using an X-linked insertion-deletion multiplex. American journal of human biology : the official journal of the Human Biology Council 21: 707-9, 2009.  [Article] 

 doi: 10.1002/ajhb.20950 PMID: 19533621.

 

238. Manco L, Machado P, Lopes D, Nogueira F, Do Rosário VE, Alonso PL, Varandas L, Trovoada Mde J, Amorim A, Arez AP

Analysis of TPI gene promoter variation in three sub-Saharan Africa population samples. American journal of human biology : the official journal of the Human Biology Council 21: 118-20, 2009.  [Article] 

 doi: 10.1002/ajhb.20819 PMID: 18792062.

 

239. Pereira L, Cunha C, Amorim A

Predicting sampling saturation of mtDNA haplotypes: an application to an enlarged Portuguese database. International journal of legal medicine 118: 132-6, 2004.  [Article] 

 doi: 10.1007/s00414-003-0424-1 PMID: 14872253.

 

240. Beleza S, Alves C, González-Neira A, Lareu M, Amorim A, Carracedo A, Gusmão L

Extending STR markers in Y chromosome haplotypes. International journal of legal medicine 117: 27-33, 2003.  [Article] 

 doi: 10.1007/s00414-002-0317-8 PMID: 12592592.

 

241. Zarrabeitia MT, Riancho JA, Gusmão L, Lareu MV, Sañudo C, Amorim A, Carracedo A

Spanish population data and forensic usefulness of a novel Y-STR set (DYS437, DYS438, DYS439, DYS460, DYS461, GATA A10, GATA C4, GATA H4). International journal of legal medicine 117: 306-11, 2003.  [Article] 

 doi: 10.1007/s00414-003-0393-4 PMID: 12904973.

 

242. Gusmão L, Krawczak M, Sánchez-Diz P, Alves C, Lopes A, Beleza S, Carracedo A, Amorim A

Bimodal allele frequency distribution at Y-STR loci DYS392 and DYS438: no evidence for a deviation from the stepwise mutation model. International journal of legal medicine 117: 287-90, 2003.  [Article] 

 doi: 10.1007/s00414-003-0388-1 PMID: 12861418.

 

243. Jaafar N, Moleirinho A, Kerkeni E, Monastiri K, Seboui H, Amorim A, Prata MJ, Quental S

Molecular characterization of maple syrup urine disease patients from Tunisia. Gene 517: 116-9, 2013.  [Article] 

 doi: 10.1016/j.gene.2012.12.097 PMID: 23313820.

 

244. Azevedo L, Stolnaja L, Tietzeova E, Hrebicek M, Hruba E, Vilarinho L, Amorim A, Dvorakova L

New polymorphic sites within ornithine transcarbamylase gene: population genetics studies and implications for diagnosis. Molecular genetics and metabolism 78: 152-7, 2003.  [Article] 

 PMID: 12618087.

 

245. Pereira V, Gomes V, Amorim A, Gusmão L, João Prata M

Genetic characterization of uniparental lineages in populations from Southwest Iberia with past malaria endemicity. American journal of human biology : the official journal of the Human Biology Council 22: 588-95, 2010.  [Article] 

 doi: 10.1002/ajhb.21049 PMID: 20737604.

 

246. Silva F, Pereira R, Gusmão L, Santos C, Amorim A, Prata MJ, Bettencourt C, Lourenço P, Lima M

Genetic profiling of the Azores Islands (Portugal): data from 10 X-chromosome STRs. American journal of human biology : the official journal of the Human Biology Council 22: 221-3, 2010.  [Article] 

 doi: 10.1002/ajhb.20971 PMID: 19593741.

 

247. Alves C, Gomes V, Prata MJ, Amorim A, Gusmão L

Population data for Y-chromosome haplotypes defined by 17 STRs (AmpFlSTR YFiler) in Portugal. Forensic science international 171: 250-5, 2007.  [Article] 

 doi: 10.1016/j.forsciint.2006.10.022 PMID: 17303359.

 

248. Aler M, Sánchez-Diz P, Gomes I, Gisbert M, Carracedo A, Amorim A, Gusmão L

Genetic data of 10 X-STRs in a Spanish population sample. Forensic science international 173: 193-6, 2007.  [Editorial Material] 

 doi: 10.1016/j.forsciint.2006.10.023 PMID: 17320320.

 

249. Toscanini U, Gusmão L, Berardi G, Amorim A, Carracedo A, Salas A, Raimondi E

Testing for genetic structure in different urban Argentinian populations. Forensic science international 165: 35-40, 2007.  [Article] 

 doi: 10.1016/j.forsciint.2006.02.042 PMID: 16846710.

 

250. Builes JJ, Martínez B, Gómez A, Caraballo L, Espinal C, Aguirre D, Montoya A, Moreno M, Amorim A, Gusmão L, Bravo ML

Y chromosome STR haplotypes in the Caribbean city of Cartagena (Colombia). Forensic science international 167: 62-9, 2007.  [Editorial Material] 

 doi: 10.1016/j.forsciint.2005.12.015 PMID: 16455219.

 

251. Carvalho F, Peixoto A, Steffensen R, Amorim A, David L, Sobrinho-Simões M

MUC1 gene polymorphism does not explain the different incidence of gastric cancer in Portugal and Denmark. Annals of human genetics 63: 187-91, 1999.  [Article] 

 PMID: 10738530.

 

252. Martins C, Ferreira PM, Carvalho R, Costa SC, Farinha C, Azevedo L, Amorim A, Oliveira M

Internal validation of two new retrotransposons-based kits (InnoQuant®HY and InnoTyper®21) at a forensic lab. Forensic science international 283: 1-8, 2018.  [Article] 

 doi: 10.1016/j.forsciint.2017.11.037 PMID: 29232650.

 

253. Gusmão L, Alves C, Beleza S, Amorim A

Forensic evaluation and population data on the new Y-STRs DYS434, DYS437, DYS438, DYS439 and GATA A10. International journal of legal medicine 116: 139-47, 2002.  [Article] 

 doi: 10.1007/s00414-001-0275-6 PMID: 12111316.

 

254. Gusmão L, Alves C, Costa S, Amorim A, Brion M, González-Neira A, Sánchez-Diz P, Carracedo A

Point mutations in the flanking regions of the Y-chromosome specific STRs DYS391, DYS437 and DYS438. International journal of legal medicine 116: 322-6, 2002.  [Article] 

 doi: 10.1007/s00414-002-0310-2 PMID: 12461638.

 

255. Pereira L, Gusmão L, Prata MJ, Moto P, Trovoada MJ, Amorim A

Detection of additional structural variation at the FES/FPS system and population data from S. Tomé e Príncipe and North Portugal. International journal of legal medicine 112: 204-6, 1999.  [Article] 

 PMID: 10335889.

 

256. Prata MJ, Miranda C, Rocha J, Amorim A

Allelic affinities between the F13A common gene products inferred by the analysis of an (AAAG)n STR polymorphism within the 5' untranslated region. Human heredity 50: 189-93, 2000.  [Article] 

 PMID: 10686499.

 

257. Carvalho F, Seruca R, David L, Amorim A, Seixas M, Bennett E, Clausen H, Sobrinho-Simões M

MUC1 gene polymorphism and gastric cancer--an epidemiological study. Glycoconjugate journal 14: 107-11, 1997.  [Article] 

 PMID: 9076520.

 

258. Marques SL, Gusmão L, Amorim A, Prata MJ, Alvarez L

Y chromosome diversity in a linguistic isolate (Mirandese, NE Portugal). American journal of human biology : the official journal of the Human Biology Council 28: 671-80, 2016.  [Article] 

 doi: 10.1002/ajhb.22849 PMID: 26990174.

 

259. van Asch B, Pereira L, Pereira F, Santa-Rita P, Lima M, Amorim A

MtDNA diversity among four Portuguese autochthonous dog breeds: a fine-scale characterisation. BMC genetics 6: 37, 2005.  [Article] 

 doi: 10.1186/1471-2156-6-37 PMID: 15972107.

 

260. Soares I, Goios A, Amorim A

Sequence Comparison Alignment-Free Approach Based on Suffix Tree and L-Words Frequency TheScientificWorldJournal  4, 2012.  [Article] 

 doi: 10.1100/2012/450124 PMID: 22997494.

 

261. Goios A, Nogueira C, Pereira C, Vilarinho L, Amorim A, Pereira L

mtDNA single macrodeletions associated with myopathies: absence of haplogroup-related increased risk. Journal of inherited metabolic disease 28: 769-78, 2005.  [Article] 

 doi: 10.1007/s10545-005-0023-z PMID: 16151908.

 

262. Silva DA, Carvalho E, Costa G, Tavares L, Amorim A, Gusmão L

Y-chromosome genetic variation in Rio de Janeiro population. American journal of human biology : the official journal of the Human Biology Council 18: 829-37, 2006.  [Article] 

 doi: 10.1002/ajhb.20567 PMID: 17039481.

 

263. Loueslati BY, Cherni L, Khodjet-Elkhil H, Ennafaa H, Pereira L, Amorim A, Ben Ayed F, Ben Ammar Elgaaied A

Islands inside an island: reproductive isolates on Jerba island. American journal of human biology : the official journal of the Human Biology Council 18: 149-53, 2006.  [Article] 

 doi: 10.1002/ajhb.20473 PMID: 16378336.

 

264. Souto L, Gusmão L, Amorim A, Côrte-Real F, Vieira DN

Y-STR haplotype diversity in distinct linguistic groups from East Timor. American journal of human biology : the official journal of the Human Biology Council 18: 691-701, 2006.  [Article] 

 doi: 10.1002/ajhb.20553 PMID: 16917898.

 

265. Manco L, Oliveira AL, Gomes C, Granjo A, de Jesus Trovoada M, Ribeiro ML, Abade A, Amorim A

Population genetics of four PKLR intragenic polymorphisms in Portugal and São Tomé e Príncipe (Gulf of Guinea). Human biology; an international record of research 73: 467-74, 2001.  [Article] 

 PMID: 11459427.

 

266. Alves C, Gusmão L, Barbosa J, Amorim A

Evaluating the informative power of Y-STRs: a comparative study using European and new African haplotype data. Forensic science international 134: 126-33, 2003.  [Article] 

 PMID: 12850407.

 

267. Gusmão L, Sánchez-Diz P, Alves C, Beleza S, Lopes A, Carracedo A, Amorim A

Grouping of Y-STR haplotypes discloses European geographic clines. Forensic science international 134: 172-9, 2003.  [Article] 

 PMID: 12850414.

 

268. Gusmão L, Sánchez-Diz P, Alves C, Quintáns B, García-Poveda E, Geada H, Raimondi E, Silva de la Fuente SM, Vide MC, Whittle MR, Zarrabeitia MT, Carvalho M, Negreiros V, Prieto Solla L, Riancho JA, Campos-Sánchez R, Vieira-Silva C, Toscanini U, Amorim A, Carracedo A,

Results of the GEP-ISFG collaborative study on the Y chromosome STRs GATA A10, GATA C4, GATA H4, DYS437, DYS438, DYS439, DYS460 and DYS461: population data. Forensic science international 135: 150-7, 2003.  [Article] 

 PMID: 12927417.

 

269. Sánchez-Diz P, Gusmão L, Beleza S, Benítez-Páez A, Castro A, García O, Solla LP, Geada H, Martín P, Martínez-Jarreta B, de Fátima Pinheiro M, Raimondi E, Silva de la Fuente SM, Vide MC, Whittle MR, Zarrabeitia MT, Carracedo A, Amorim A,

Results of the GEP-ISFG collaborative study on two Y-STRs tetraplexes: GEPY I (DYS461, GATA C4, DYS437 and DYS438) and GEPY II (DYS460, GATA A10, GATA H4 and DYS439). Forensic science international 135: 158-62, 2003.  [Article] 

 PMID: 12927418.

 

270. Amorim A, Pereira L

Pros and cons in the use of SNPs in forensic kinship investigation: a comparative analysis with STRs. Forensic science international 150: 17-21, 2005.  [Article] 

 doi: 10.1016/j.forsciint.2004.06.018 PMID: 15837005.

 

271. Alves C, Gusmão L, López-Parra AM, Soledad Mesa M, Amorim A, Arroyo-Pardo E

STR allelic frequencies for an African population sample (Equatorial Guinea) using AmpFlSTR Identifiler and Powerplex 16 kits. Forensic science international 148: 239-42, 2005.  [Editorial Material] 

 doi: 10.1016/j.forsciint.2004.05.007 PMID: 15639621.

 

272. Arroyo-Pardo E, Gusmão L, López-Parra AM, Baeza C, Mesa MS, Amorim A

Genetic variability of 16 Y-chromosome STRs in a sample from Equatorial Guinea (Central Africa). Forensic science international 149: 109-13, 2005.  [Editorial Material] 

 doi: 10.1016/j.forsciint.2004.06.006 PMID: 15734116.

 

273. Cherni L, Pereira L, Goios A, Loueslati BY, Khodjet el Khil H, Gomes I, Gusmão L, Alves C, Slama A, Amorim A, Elgaaied AB

Y-chromosomal STR haplotypes in three ethnic groups and one cosmopolitan population from Tunisia. Forensic science international 152: 95-9, 2005.  [Article] 

 doi: 10.1016/j.forsciint.2005.02.007 PMID: 15939181.

 

274. Cherni L, Loueslati Yaâcoubi B, Pereira L, Alves C, Khodjet El Kill H, Ben Ammar El Gaaied A, Amorim A

Data for 15 autosomal STR markers (Powerplex 16 System) from two Tunisian populations: Kesra (Berber) and Zriba (Arab). Forensic science international 147: 101-6, 2005.  [Editorial Material] 

 doi: 10.1016/j.forsciint.2004.04.009 PMID: 15541599.

 

275. Souto L, Alves C, Gusmão L, Ferreira E, Amorim A, Côrte-Real F, Vieira DN

Population data on 15 autosomal STRs in a sample from East Timor. Forensic science international 155: 77-80, 2005.  [Article] 

 doi: 10.1016/j.forsciint.2005.01.002 PMID: 16216715.

 

276. Martínez B, Caraballo L, Gusmão L, Amorim A, Carracedo A

Autosomic STR population data in two Caribbean samples from Colombia. Forensic science international 152: 79-81, 2005.  [Article] 

 doi: 10.1016/j.forsciint.2005.01.016 PMID: 15939178.

 

277. Manco L, Albuquerque J, Sousa MF, Martiniano R, de Oliveira RC, Marques S, Gomes V, Amorim A, Alvarez L, Prata MJ

The Eastern side of the Westernmost Europeans: Insights from subclades within Y-chromosome haplogroup J-M304. American journal of human biology : the official journal of the Human Biology Council 30: ., 2018.  [Article] 

 doi: 10.1002/ajhb.23082 PMID: 29193490.

 

278. Pinto JC, Pereira V, Marques SL, Amorim A, Alvarez L, Prata MJ

Mirandese language and genetic differentiation in Iberia: a study using X chromosome markers. Annals of human biology 42: 20-5, 2015.  [Article] 

 doi: 10.3109/03014460.2014.944215 PMID: 25117606.

 

279. Ouerhani S, Oliveira E, Marrakchi R, Ben Slama MR, Sfaxi M, Ayed M, Chebil M, Amorim A, El Gaaied AB, Prata MJ

Methylenetetrahydrofolate reductase and methionine synthase polymorphisms and risk of bladder cancer in a Tunisian population. Cancer genetics and cytogenetics 176: 48-53, 2007.  [Article] 

 doi: 10.1016/j.cancergencyto.2007.03.007 PMID: 17574963.

 

280. Rouissi K, Ouerhani S, Oliveira E, Marrakchi R, Cherni L, Ben Othman F, Ben Slama MR, Sfaxi M, Ayed M, Chebil M, Amorim A, Prata MJ, Benammar Elgaaied A

Polymorphisms in one-carbon metabolism pathway genes and risk for bladder cancer in a Tunisian population. Cancer genetics and cytogenetics 195: 43-53, 2009.  [Article] 

 doi: 10.1016/j.cancergencyto.2009.06.007 PMID: 19837268.

 

281. Pereira L, Prata MJ, Brión M, Jobling MA, Carracedo A, Amorim A

Clinal variation of YAP+ Y-chromosome frequencies in Western Iberia. Human biology; an international record of research 72: 937-44, 2000.  [Article] 

 PMID: 11236865.

 

282. Pereira L, Gusmão L, Prata MJ, Mota P, Trovoada MJ, Amorim A

Variation in STR loci of the human myelin basic protein gene: north Portugal and São Tomé e Príncipe. Human biology; an international record of research 72: 481-7, 2000.  [Article] 

 PMID: 10885193.

 

283. Pérez-Lezaun A, Calafell F, Clarimón J, Bosch E, Mateu E, Gusmão L, Amorim A, Benchemsi N, Bertranpetit J

Allele frequencies of 13 short tandem repeats in population samples from the Iberian Peninsula and northern Africa. International journal of legal medicine 113: 208-14, 2000.  [Article] 

 PMID: 10929236.

 

284. Gusmão L, Sánchez-Diz P, Alves C, Lareu MV, Carracedo A, Amorim A

Genetic diversity of nine STRs in two northwest Iberian populations: Galicia and northern Portugal. International journal of legal medicine 114: 109-13, 2000.  [Article] 

 PMID: 11197615.

 

285. Khodjet-el-Khil H, Fadhlaoui-Zid K, Gusmão L, Alves C, Benammar-Elgaaied A, Amorim A

Allele frequencies for 15 autosomal STR markers in the Libyan population. Annals of human biology 39: 80-3, 2012.  [Article] 

 doi: 10.3109/03014460.2011.630678 PMID: 22039975.

 

286. Frigi S, Pereira F, Pereira L, Yacoubi B, Gusmão L, Alves C, Khodjet el Khil H, Cherni L, Amorim A, El Gaaied A

Data for Y-chromosome haplotypes defined by 17 STRs (AmpFLSTR Yfiler) in two Tunisian Berber communities. Forensic science international 160: 80-3, 2006.  [Editorial Material] 

 doi: 10.1016/j.forsciint.2005.05.007 PMID: 16005592.

 

287. Crespillo M, Paredes MR, Prieto L, Montesino M, Salas A, Albarran C, Alvarez-Iglesias V, Amorin A, Berniell-Lee G, Brehm A, Carril JC, Corach D, Cuevas N, Di Lonardo AM, Doutremepuich C, Espinheira RM, Espinoza M, Gómez F, González A, Hernández A, Hidalgo M, Jimenez M, Leite FP, López AM, López-Soto M, Lorente JA, Pagano S, Palacio AM, Pestano JJ, Pinheiro MF, Raimondi E, Ramón MM, Tovar F, Vidal-Rioja L, Vide MC, Whittle MR, Yunis JJ, Garcia-Hirschfel J

Results of the 2003-2004 GEP-ISFG collaborative study on mitochondrial DNA: focus on the mtDNA profile of a mixed semen-saliva stain. Forensic science international 160: 157-67, 2006.  [Article] 

 doi: 10.1016/j.forsciint.2005.09.005 PMID: 16243467.

 

288. Pereira L, Richards M, Goios A, Alonso A, Albarrán C, Garcia O, Behar DM, Gölge M, Hatina J, Al-Gazali L, Bradley DG, Macaulay V, Amorim A

Evaluating the forensic informativeness of mtDNA haplogroup H sub-typing on a Eurasian scale. Forensic science international 159: 43-50, 2006.  [Article] 

 doi: 10.1016/j.forsciint.2005.06.008 PMID: 16076538.

 

289. Builes JJ, Bravo ML, Gómez C, Espinal C, Aguirre D, Gómez A, Rodríguez J, Castañeda P, Montoya A, Moreno M, Amorim A, Gusmão L

Y-chromosome STRs in an Antioquian (Colombia) population sample. Forensic science international 164: 79-86, 2006.  [Article] 

 doi: 10.1016/j.forsciint.2005.10.005 PMID: 16289613.

 

290. Souto L, Gusmão L, Ferreira E, Amorim A, Côrte-Real F, Vieira DN

Y-chromosome STR haplotypes in East Timor: forensic evaluation and population data. Forensic science international 156: 261-5, 2006.  [Editorial Material] 

 doi: 10.1016/j.forsciint.2005.02.015 PMID: 16410170.

 

291. Martínez B, Caraballo L, Barón F, Gusmão L, Amorim A, Carracedo A

Analysis of STR loci in Cartagena, a Caribbean city of Colombia. Forensic science international 160: 221-3, 2006.  [Article] 

 doi: 10.1016/j.forsciint.2005.05.035 PMID: 16024195.

 

292. Alves C, Gusmão L, Damasceno A, Soares B, Amorim A

Contribution for an African autosomic STR database (AmpF/STR Identifiler and Powerplex 16 System) and a report on genotypic variations. Forensic science international 139: 201-5, 2004.  [Article] 

 doi: 10.1016/j.forsciint.2003.11.002 PMID: 15040917.

 

293. Pereira L, Van Asch B, Amorim A

Standardisation of nomenclature for dog mtDNA D-loop: a prerequisite for launching a Canis familiaris database. Forensic science international 141: 99-108, 2004.  [Article] 

 doi: 10.1016/j.forsciint.2003.12.014 PMID: 15062947.

 

294. Beleza S, Alves C, Reis F, Amorim A, Carracedo A, Gusmão L

17 STR data (AmpF/STR Identifiler and Powerplex 16 System) from Cabinda (Angola). Forensic science international 141: 193-6, 2004.  [Editorial Material] 

 doi: 10.1016/j.forsciint.2004.01.008 PMID: 15062962.

 

295. López AM, Alvarez S, Gusmão L, Alves C, Mesa MS, Albentosa A, Arribas G, López R, Barrio PA, Amorim A, Arroyo-Pardo E

Population data for 16 Y-chromosome STRs in four populations from Pyrenees (Spain). Forensic science international 140: 125-9, 2004.  [Editorial Material] 

 doi: 10.1016/j.forsciint.2003.11.014 PMID: 15013176.

 

296. Toscanini U, Gusmão L, Berardi G, Amorim A, Carracedo A, Salas A, Raimondi E

Y chromosome microsatellite genetic variation in two Native American populations from Argentina: population stratification and mutation data. Forensic science international. Genetics 2: 274-80, 2008.  [Article] 

 doi: 10.1016/j.fsigen.2008.03.001 PMID: 19083836.

 

297. Amorim A

A cautionary note on the evaluation of genetic evidence from uniparentally transmitted markers. Forensic science international. Genetics 2: 376-8, 2008.  [Article] 

 doi: 10.1016/j.fsigen.2008.04.001 PMID: 19083851.

 

298. Goios A, Gusmão L, Rocha AM, Pereira L, Bogue M, Amorim A

A SNaPshot multiplex typing strategy for mtDNA identification of mouse inbred strains Forensic Sci Int: Genetics  596-597, 2008.  [] 

 doi: 10.1016/j.fsigss.2007.10.204.

 

299. Pereira R, Fondevilda M, Phillips C, Amorim A, Carracedo A, Gusmão L

Genetic characterization of 52 autosomal SNPs in two sub-Saharan African populations Forensic science international. Genetics  361-363, 2008.  [] 

 doi: 10.1016/j.fsigss.2007.10.155.

 

300. Pereira R, Fondevila M, Phillips C, Amorim A, Carracedo A, Gusmão L

Genetic characterization of 52 autosomal SNPs in the Portuguese population Forensic science international. Genetics  358-360, 2008.  [] 

 doi: 10.1016/j.fsigss.2007.10.160.

 

301. Gomes I, Pereira R, Amorim A, Prinz M, Bieschke E, Carracedo A, Gusmão L

Sequence variation at three X chromosomal short tandem repeats in Caucasian and African populations Forensic science international. Genetics  147-149, 2008.  [] 

 doi: 10.1016/j.fsigss.2007.10.097.

 

302. Oliveira E, Alves S, Quental S, Ferreira F, Norton L, Costa V, Amorim A, Prata MJ

The MTHFR C677T and A1298C polymorphisms and susceptibility to childhood acute lymphoblastic leukemia in Portugal. Journal of pediatric hematology/oncology : official journal of the American Society of Pediatric Hematology/Oncology 27: 425-9, 2005.  [Article] 

 PMID: 16096524.

 

303. Noguera MC, Schwegler A, Gomes V, Briceño I, Alvarez L, Uricoechea D, Amorim A, Benavides E, Silvera C, Charris M, Bernal JE, Gusmão L

Colombia's racial crucible: Y chromosome evidence from six admixed communities in the Department of Bolivar. Annals of human biology 41: 453-9, 2014.  [Article] 

 doi: 10.3109/03014460.2013.852244 PMID: 24215508.

 

304. Moreira C, van Asch B, Fonseca L, Pereira-Castro I, Silva R, Azevedo L, Mota M, Abrantes I, Amorim A, Pereira F

The mitochondrial genome of the pinewood nematode (Bursaphelenchus xylophilus) lineage introduced in Europe. Mitochondrial DNA 25: 420-1, 2014.  [Article] 

 doi: 10.3109/19401736.2013.809438 PMID: 23841612.

 

305. Gusmão L, González-Neira A, Alves C, Sánchez-Diz P, Dauber EM, Amorim A, Carracedo A

Genetic diversity of Y-specific STRs in chimpanzees (Pan troglodytes). American journal of primatology 57: 21-9, 2002.  [Article] 

 doi: 10.1002/ajp.1084 PMID: 11977123.

 

306. Teixeira D, Vargens D, Príncipe A, Oliveira E, Amorim A, Prata MJ, Suarez-Kurtz G

High prevalence of the GSTM3*A/B polymorphism in sub-Sarahan African populations. Brazilian journal of medical and biological research = Revista brasileira de pesquisas médicas e biológicas / Sociedade Brasileira de Biofísica ... [et al.] 43: 677-80, 2010.  [Article] 

 PMID: 20549140.

 

307. Alves C, Amorim A, Gusmão L, Pereira L

VWA STR genotyping: further inconsistencies between Perkin-Elmer and Promega kits. International journal of legal medicine 115: 97-9, 2001.  [Article] 

 PMID: 11724440.

 

308. Amorim A

Opening the DNA black box: demythologizing forensic genetics New Genetics and Society  1, 2012.  [Article] 

 doi: 10.1080/14636778.2012.687083.