1. Carvalho-Silva DR, Santos FR, Rocha J, Pena SD

The phylogeography of Brazilian Y-chromosome lineages. American journal of human genetics 68: 281-6, 2001.  [Article] 

 PMID: 11090340.

 

2. Parra FC, Amado RC, Lambertucci JR, Rocha J, Antunes CM, Pena SD

Color and genomic ancestry in Brazilians. Proceedings of the National Academy of Sciences of the United States of America 100: 177-82, 2003.  [Article] 

 doi: 10.1073/pnas.0126614100 PMID: 12509516.

 

3. Pinheiro H, Bordeira-Carriço R, Seixas S, Carvalho J, Senz J, Oliveira P, Inácio P, Gusmão L, Rocha J, Huntsman D, Seruca R, Oliveira C

Allele-specific CDH1 downregulation and hereditary diffuse gastric cancer. Human molecular genetics 19: 943-52, 2010.  [Article] 

 doi: 10.1093/hmg/ddp537. PMID: 19965908.

 

4. Seixas S, Suriano G, Carvalho F, Seruca R, Rocha J, Di Rienzo A

Sequence diversity at the proximal 14q32.1 SERPIN subcluster: evidence for natural selection favoring the pseudogenization of SERPINA2. Molecular biology and evolution 24: 587-98, 2007.  [Article] 

 doi: 10.1093/molbev/msl187 PMID: 17135331.

 

5. Ferreira Z, Hurle B, Rocha J, Seixas S

Differing evolutionary histories of WFDC8 (short-term balancing) in Europeans and SPINT4 (incomplete selective sweep) in Africans. Molecular biology and evolution 28: 2811-22, 2011.  [Article] 

 doi: 10.1093/molbev/msr106 PMID: 21536719.

 

6. Seixas S, Ferrand N, Rocha J

Microsatellite variation and evolution of the human Duffy blood group polymorphism. Molecular biology and evolution 19: 1802-6, 2002.  [Letter] 

 PMID: 12270907.

 

7. Suriano G, Seixas S, Rocha J, Seruca R

A model to infer the pathogenic significance of CDH1 germline missense variants. Journal of molecular medicine (Berlin, Germany) 84: 1023-31, 2006.  [Article] 

 doi: 10.1007/s00109-006-0091-z PMID: 16924464.

 

8. Seixas S, Lopes AI, Rocha J, Silva L, Salgueiro C, Salazar-de-Sousa J, Batista A

Association between the defective Pro369Ser mutation and in vivo intrahepatic 1-antitrypsin accumulation. Journal of medical genetics 38: 472-4, 2001.  [Letter] 

 PMID: 11474657.

 

9. Canedo P, Durães C, Pereira F, Regalo G, Lunet N, Barros H, Carneiro F, Seruca R, Rocha J, Machado JC

Tumor necrosis factor alpha extended haplotypes and risk of gastric carcinoma. Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 17: 2416-20, 2008.  [Article] 

 doi: 10.1158/1055-9965.EPI-08-0413 PMID: 18768512.

 

10. Coelho M, Luiselli D, Bertorelle G, Lopes AI, Seixas S, Destro-Bisol G, Rocha J

Microsatellite variation and evolution of human lactase persistence. Human genetics 117: 329-39, 2005.  [Article] 

 doi: 10.1007/s00439-005-1322-z PMID: 15928901.

 

11. Coelho M, Sequeira F, Luiselli D, Beleza S, Rocha J

On the edge of Bantu expansions: mtDNA, Y chromosome and lactase persistence genetic variation in southwestern Angola. BMC evolutionary biology 9: 80, 2009.  [Article] 

 doi: 10.1186/1471-2148-9-80 PMID: 19383166.

 

12. Batini C, Coia V, Battaggia C, Rocha J, Pilkington MM, Spedini G, Comas D, Destro-Bisol G, Calafell F

Phylogeography of the human mitochondrial L1c haplogroup: genetic signatures of the prehistory of Central Africa. Molecular phylogenetics and evolution 43: 635-44, 2007.  [Article] 

 doi: 10.1016/j.ympev.2006.09.014 PMID: 17107816.

 

13. Vaz Rodrigues L, Costa F, Marques P, Mendonça C, Rocha J, Seixas S

Severe a-1 antitrypsin deficiency caused by Q0(Ourém) allele: clinical features, haplotype characterization and history. Clinical genetics 81: 462-9, 2012.  [Article] 

 doi: 10.1111/j.1399-0004.2011.01670.x PMID: 21457231.

 

14. Seixas S, Ivanova N, Ferreira Z, Rocha J, Victor L. B

Loss and Gain of Function in SERPINB11: An Example of a Gene under Selection on Standing Variation, with Implications for Host-Pathogen Interactions
 PloS one  1, 2012.  [Article] 

 doi: 10.1371/journal.pone.0032518.

 

15. 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.

 

16. 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.

 

17. Pinheiro HC, Carrico R, Carvalho J, Oliveira P, Gusmao L, Seixas S, Rocha J, Huntsman D, Seruca R, Oliveira C

Allele-Specific CDH1 Downregulation Increases Susceptibility to Diffuse Gastric Cancer Helicobacter 14: 381-381, 2009.  [Meeting Abstract] 

.

 

18. Silva LM, Carvalho AS, Guillon P, Seixas S, Azevedo M, Almeida R, Ruvoën-Clouet N, Reis CA, Le Pendu J, Rocha J, David L

Infection-associated FUT2 (Fucosyltransferase 2) genetic variation and impact on functionality assessed by in vivo studies. Glycoconjugate journal 27: 61-8, 2010.  [Article] 

 doi: 10.1007/s10719-009-9255-8 PMID: 19757028.

 

19. 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.

 

20. Cardoso ML, Martins E, Vasconcelos R, Vilarinho L, Rocha J

Identification of a novel R21X mutation in the liver-type arginase gene (ARG1) in four Portuguese patients with argininemia. Human mutation 14: 355-6, 1999.  [] 

 doi: 10.1002/(SICI)1098-1004(199910)14:4<355::AID-HUMU20>3.0.CO;2-I PMID: 10502833.

 

21. Seixas S, Trovoada MJ, Santos MT, Rocha J

A novel alpha-1-antitrypsin P362H variant found in a population sample from S. Tomé e Príncipe (Gulf of Guinea, West Africa). Human mutation 13: 414, 1999.  [] 

.

 

22. Gomez F, Tomas G, Rocha J, Tishkoff SA

Patterns of genetic variation at ICAM-1 in diverse African populations American journal of physical anthropology  135-136, 2009.  [Meeting Abstract] 

.

 

23. Seixas S, Mendonça C, Costa F, Rocha J

alpha1-Antitrypsin null alleles: evidence for the recurrence of the L353fsX376 mutation and a novel G-->A transition in position +1 of intron IC affecting normal mRNA splicing. Clinical genetics 62: 175-80, 2002.  [Article] 

 PMID: 12220457.

 

24. Saranga SP, Prista A, Nhantumbo L, Beunen G, Rocha J, Williams-Blangero S, Maia JA

Heritabilities of somatotype components in a population from rural Mozambique. American journal of human biology : the official journal of the Human Biology Council 20: 642-6, 2008.  [Article] 

 doi: 10.1002/ajhb.20733 PMID: 18623135.

 

25. Guerra A, Rego C, Castro EM, Seixas S, Rocha J

Influence of apolipoprotein e polymorphism on cardiovascular risk factors in obese children. Annals of nutrition & metabolism 47: 49-54, 2003.  [Article] 

 doi: 10.1159/000069275 PMID: 12652054.

 

26. 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.

 

27. Carvalho-Silva DR, Tarazona-Santos E, Rocha J, Pena SD, Santos FR

Y chromosome diversity in Brazilians: switching perspectives from slow to fast evolving markers. Genetica 126: 251-60, 2006.  [Article] 

 doi: 10.1007/s10709-005-1454-z PMID: 16502101.

 

28. Alves-Silva J, Guimarães PE, Rocha J, Pena SD, Prado VF

Identification in Portugal and Brazil of a mtDNA lineage containing a 9-bp triplication of the intergenic COII/tRNALys region. Human heredity 49: 56-8, 1999.  [Article] 

 PMID: 9858860.

 

29. Tomás G, Seco L, Seixas S, Faustino P, Lavinha J, Rocha J

The peopling of São Tomé (Gulf of Guinea): origins of slave settlers and admixture with the Portuguese. Human biology; an international record of research 74: 397-411, 2002.  [Article] 

 PMID: 12180763.

 

30. Gaspar P, Seixas S, Rocha J

Genetic variation in a compound short tandem repeat/Alu haplotype system at the SB19.3 locus: properties and interpretation. Human biology; an international record of research 76: 277-87, 2004.  [Article] 

 PMID: 15359536.

 

31. Seixas S, Trovoada MJ, Rocha J

Haplotype analysis of the apolipoprotein E and apolipoprotein C1 loci in Portugal and São Tomé e Príncipe (Gulf of Guinea): linkage disequilibrium evidence that APOE*4 is the ancestral APOE allele. Human biology; an international record of research 71: 1001-8, 1999.  [Article] 

 PMID: 10592690.

 

32. Santos F, Amorim A, Rocha J, Kömpf J

Adenosine deaminase polymorphisms at the protein and DNA levels. Human biology; an international record of research 71: 1009-13, 1999.  [Article] 

 PMID: 10592691.

 

33. Destro-Bisol G, Jobling MA, Rocha J, Novembre J, Richards MB, Mulligan C, Batini C, Manni F

Molecular Anthropology in the genomic era. Journal of anthropological sciences = Rivista di antropologia : JASS / Istituto italiano di antropologia 88: 93-112, 2010.  [Article] 

 PMID: 20834052.

 

34. Rocha J

Bantu-Khoisan interactions at the edge of the Bantu expansions: insights from southern Angola. Journal of anthropological sciences = Rivista di antropologia : JASS / Istituto italiano di antropologia 88: 5-8, 2010.  [Editorial Material] 

 PMID: 20834047.

 

35. Amorim A, Rocha J

A technical note on esterase D subtyping Electrophoresis 7: 291-292, 1986.  [Note] 

 doi: 10.1002/elps.1150070610.

 

36. Rocha J

Conceito clássico de raça: uma visão folclórica da diversidade humana.  Actividade Física e Desporto: Fundamentos e Contextos 1: 23-30, 2003.  [] 

.

 

37. Saranga S, Maia J, Rocha J, Nhamtubo L, Prista A

Crescimento somático na população africana em idade escolar. Estado actual do conhecimento. Revista Portuguesa de Saúde Pública 25: 85-99, 2007.  [] 

.