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Identification

Personal identification

Full name
João Gonçalves

Citation names

  • Gonçalves, João

Author identifiers

Ciência ID
5710-1FAE-5FAB
ORCID iD
0000-0001-9359-8774

Telephones

Telephone
  • 217519233 (Professional)

Addresses

  • Inst Ricardo Jorge, Av Padre Cruz, 1649-016 L, Lisboa, Lisboa, Portugal (Professional)

Knowledge fields

  • Medical and Health Sciences - Basic Medicine - Human Genetics

Languages

Language Speaking Reading Writing Listening Peer-review
Portuguese (Mother tongue)
English Upper intermediate (B2) Upper intermediate (B2) Upper intermediate (B2) Upper intermediate (B2) Upper intermediate (B2)
Education
Degree Classification
2016/05/31 - 2024/12/31
Concluded
 European Clinical Laboratory Geneticist - focous on Molecular Genetics (Postgraduate Certificate)
Major in Human molecular Genetics
European Society of Human Genetics, Austria
 Approved
2003/06/23
Concluded
 Doutoramento em Genética Molecular (Doutoramento)
Major in Genética Molecular Humana
Universidade Nova de Lisboa Faculdade de Ciências e Tecnologia, Portugal
"Patologia Molecular do Desenvolvimento Sexual no Homem" (THESIS/DISSERTATION)
 Aprovado por Unanimidade
1995/10/25
Concluded
 Especialista - Técnico Superior de Saúde, ramo de genética (Curso de Especialização Tecnológica)
Major in Genética Molecular Humana
SPMS Serviços Partilhados do Ministério da Saúde EPE, Portugal
 17/20
1981 - 1987/09/30
Concluded
 Química Aplicada (Licenciatura)
Major in Biotecnologia
Universidade Nova de Lisboa Faculdade de Ciências e Tecnologia, Portugal
"Patologia Molecular do Desenvolvimento Sexual no Homem" (THESIS/DISSERTATION)
 14
Affiliation

Science

Category
Host institution 		Employer
2024/07/10 - Current Principal Investigator (Research) Instituto Nacional de Saúde Dr Ricardo Jorge, Portugal
Instituto Nacional de Saúde Dr Ricardo Jorge, Portugal
2016/04/21 - 2024/07/09 Auxiliary Researcher (Research) Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal
Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal

Other Careers

Category
Host institution 		Employer
1999/02/05 - 2016/04/20 Assessor (Técnico Superior de Saúde) Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal
Instituto Nacional de Saúde Dr Ricardo Jorge, Portugal
Projects

Contract

Designation Funders
2017 - 2020 Identification and characterization of the molecular mechanisms underlying non-obstructive azoospermia by integrating genomic and transcriptomic data
SAF2016-78722-R
Researcher
Concluded
2015 - 2019 Genetics of male infertility (GEMINI) consorctium - Project: genomics of spermatogenic impairment
R01HD078641
Researcher
1Division of Genetics, Oregon National Primate Research Center, Oregon Health & Science University, United States
Concluded
2014 - 2017 Centre for Toxicogenomis and Human Health
UID/BIM/00009/2013
Researcher
Universidade Nova de Lisboa Faculdade de Ciências Médicas, Portugal
 Fundação para a Ciência e a Tecnologia
Concluded
2009 - 2012 Search for genomic structural variants in azoospermia: a study in the Portuguese Population
PTDC/SAU-GMG/101229/2008
Researcher
Universidade do Porto Instituto de Patologia e Imunologia Molecular, Portugal

Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal
Fundação para a Ciência e a Tecnologia
Concluded
Outputs

Publications

Journal article
  1. Miriam Cerván-Martín; Sara González-Muñoz; Andrea Guzmán-Jiménez; Inmaculada Higueras-Serrano; José A Castilla; Nicolás Garrido; Saturnino Luján; et al. "Changes in environmental exposures over decades may influence the genetic architecture of severe spermatogenic failure". Human Reproduction (2024): https://doi.org/10.1093/humrep/deae007.
    10.1093/humrep/deae007
  2. Catarina Rodrigues Ivo; Ana Laura Fitas; Inês Madureira; Catarina Diamantino; Susana Gomes; João Gonçalves; Lurdes Lopes. "Congenital adrenal hyperplasia with a CYP21A2 deletion overlapping the tenascin-X gene: an atypical presentation". Journal of Pediatric Endocrinology and Metabolism (2023): http://dx.doi.org/10.1515/jpem-2022-0396.
    10.1515/jpem-2022-0396
  3. Liina Nagirnaja; Alexandra M. Lopes; Wu-Lin Charng; Brian Miller; Rytis Stakaitis; Ieva Stakaitiene; Alexandra Stendahl; et al. "Diverse monogenic subforms of human spermatogenic failure". Nature Communications (2022): http://dx.doi.org/10.1038/s41467-022-35661-z.
    10.1038/s41467-022-35661-z
  4. Andrea Guzmán-Jiménez; Sara González-Muñoz; Miriam Cerván-Martín; Rocío Rivera-Egea; Nicolás Garrido; Saturnino Luján; Samuel Santos-Ribeiro; et al. "Contribution of TEX15 genetic variants to the risk of developing severe non-obstructive oligozoospermia". Frontiers in Cell and Developmental Biology (2022): http://dx.doi.org/10.3389/fcell.2022.1089782.
    10.3389/fcell.2022.1089782
  5. Miriam Cerván-Martín; Lara Bossini-Castillo; Andrea Guzmán-Jiménez; Rocío Rivera-Egea; Nicolás Garrido; Saturnino Lujan; Gema Romeu; et al. "Common genetic variation in KATNAL1 non-coding regions is involved in the susceptibility to severe phenotypes of male infertility". Andrology (2022): http://dx.doi.org/10.1111/andr.13221.
    10.1111/andr.13221
  6. Laura Kasak; Kristiina Lillepea; Liina Nagirnaja; Kenneth I Aston; Peter Schlegel; João Gonçalves; Filipa Carvalho; et al. "Actionable secondary findings following exome sequencing of 836 non-obstructive azoospermia cases and their value in patient management". Human Reproduction (2022): http://dx.doi.org/10.1093/humrep/deac100.
    10.1093/humrep/deac100
  7. Miriam Cerván-Martín; Lara Bossini-Castillo; Andrea Guzmán-Jimenez; Rocío Rivera-Egea; Nicolás Garrido; Saturnino Luján; Gema Romeu; et al. "Common Variation in the PIN1 Locus Increases the Genetic Risk to Suffer from Sertoli Cell-Only Syndrome". Journal of Personalized Medicine (2022): http://dx.doi.org/10.3390/jpm12060932.
    10.3390/jpm12060932
  8. Cerván-Martín, Miriam; Bossini-Castillo, Lara; Rivera-Egea, Rocío; Garrido, Nicolás; Luján, Saturnino; Romeu, Gema; Santos-Ribeiro, Samuel; et al. "Effect and in silico characterization of genetic variants associated with severe spermatogenic disorders in a large Iberian cohort". Andrology 9 4 (2021): 1151-1165. http://dx.doi.org/10.1111/andr.13009.
    Open access • Published • 10.1111/andr.13009
  9. Miriam Cerván-Martín; Lara Bossini-Castillo; Rocío Rivera-Egea; Nicolás Garrido; Saturnino Luján; Gema Romeu; Samuel Santos-Ribeiro; et al. "Evaluation of Male Fertility-Associated Loci in a European Population of Patients with Severe Spermatogenic Impairment". Journal of Personalized Medicine (2020): https://www.mdpi.com/2075-4426/11/1/22.
    10.3390/jpm11010022
  10. Gonçalves, João. "Disruption of human meiotic telomere complex genes TERB1, TERB2 and MAJIN in men with non-obstructive azoospermia". Human Genetics (2020): http://dx.doi.org/10.1007/s00439-020-02236-1.
    10.1007/s00439-020-02236-1
  11. Gonçalves, João. "Bi-allelic Mutations in M1AP Are a Frequent Cause of Meiotic Arrest and Severely Impaired Spermatogenesis Leading to Male Infertility". The American Journal of Human Genetics 107 2 (2020): 342-351. http://dx.doi.org/10.1016/j.ajhg.2020.06.010.
    10.1016/j.ajhg.2020.06.010
  12. Gonçalves, João. "Intronic variation of the SOHLH2 gene confers risk to male reproductive impairment.". Fertility and sterility (2020): https://doi.org/10.1016/j.fertnstert.2020.02.115.
    10.1016/j.fertnstert.2020.02.115
  13. Gonçalves, João. "PROS1 novel splice-site variant decreases protein S expression in patients from two families with thrombotic disease". Clinical Case Reports 5 12 (2017): 2062-2065. https://doi.org/10.1002/ccr3.1226.
    10.1002/ccr3.1226
  14. Gonçalves, João. "Widening the spectrum of deletions and molecular mechanisms underlying alpha-thalassemia". Annals of Hematology 96 11 (2017): 1921-1929. http://dx.doi.org/10.1007/s00277-017-3090-y.
    10.1007/s00277-017-3090-y
  15. Gonçalves, João. "Next-generation sequencing of hereditary hemochromatosis-related genes: Novel likely pathogenic variants found in the Portuguese population.". Blood cells, molecules & diseases (2016): https://doi.org/10.1016/j.bcmd.2016.07.004.
    10.1016/j.bcmd.2016.07.004
  16. Gonçalves, João. "Rare double sex and mab-3-related transcription factor 1 regulatory variants in severe spermatogenic failure". Andrology 3 5 (2015): 825-833. http://dx.doi.org/10.1111/andr.12063.
    10.1111/andr.12063
  17. Gonçalves, João. "The Mutational Spectrum of WT1 in Male Infertility". Journal of Urology 193 5 (2015): 1709-1715. http://dx.doi.org/10.1016/j.juro.2014.11.004.
    10.1016/j.juro.2014.11.004
  18. Gonçalves, João. "X-linked adrenal hypoplasia congenita: clinical and follow-up findings of two kindreds, one with a novel NR0B1 mutation". Archives of Endocrinology and Metabolism 59 2 (2015): 181-185. http://dx.doi.org/10.1590/2359-3997000000032.
    10.1590/2359-3997000000032
  19. Gonçalves, João. "The hepcidin gene promoter nc.-1010C > T; -582A > G haplotype modulates serum ferritin in individuals carrying the common H63D mutation in HFE gene". Annals of Hematology 93 12 (2014): 2063-2066. http://dx.doi.org/10.1007/s00277-014-2160-7.
    10.1007/s00277-014-2160-7
  20. Gonçalves, João. "A novel Alu-mediated microdeletion at 11p13 removes WT1 in a patient with cryptorchidism and azoospermia". Reproductive BioMedicine Online 29 3 (2014): 388-391. http://dx.doi.org/10.1016/j.rbmo.2014.04.017.
    10.1016/j.rbmo.2014.04.017
  21. Gonçalves, João. "Human Spermatogenic Failure Purges Deleterious Mutation Load from the Autosomes and Both Sex Chromosomes, including the Gene DMRT1". PLoS Genetics 9 3 (2013): http://www.scopus.com/inward/record.url?eid=2-s2.0-84875985784&partnerID=MN8TOARS.
    10.1371/journal.pgen.1003349
  22. Vieira A; Paiva S; Baptista C; Ruas L; Silva J; Gonçalves J; Carrilho F; Carvalheiro M. "[Late onset congenital adrenal hyperplasia due to 21-hydroxylase deficiency: revision of literature and preconception genetic study of five couples].". Acta medica portuguesa (2011):
  23. Gonçalves, João. "Late onset congenital adrenal hyperplasia due to 21-hydroxylase deficiency revision of literature and preconception genetic study of five couples | Hiperplasia congénita da suprarenal de expressão tardia por deficiência de 21-hidroxilase revisão da literatura e estudo genético preconcepção de cinco casais". Acta Medica Portuguesa 24 1 (2011): 99-110. http://www.scopus.com/inward/record.url?eid=2-s2.0-79953253929&partnerID=MN8TOARS.
  24. Gonçalves, João. "Identification of SOX3 as an XX male sex reversal gene in mice and humans". Journal of Clinical Investigation 121 1 (2011): 328-341. http://www.scopus.com/inward/record.url?eid=2-s2.0-78650938438&partnerID=MN8TOARS.
    10.1172/JCI42580
  25. Gonçalves, João. "Genetic dissection of the AZF regions of the human Y chromosome: Thriller or filler for male (In)fertility?". Journal of Biomedicine and Biotechnology 2010 (2010): http://www.scopus.com/inward/record.url?eid=2-s2.0-77955408331&partnerID=MN8TOARS.
    10.1155/2010/936569
  26. Gonçalves, João. "Incorrect DNA methylation of the DAZL promoter CpG island associates with defective human sperm". Human Reproduction 25 10 (2010): 2647-2654. http://www.scopus.com/inward/record.url?eid=2-s2.0-77956897397&partnerID=MN8TOARS.
    10.1093/humrep/deq200
  27. Gonçalves, João. "The AZFc region of the Y chromosome: At the crossroads between genetic diversity and male infertility". Human Reproduction Update 16 5 (2010): 525-542. http://www.scopus.com/inward/record.url?eid=2-s2.0-77955636758&partnerID=MN8TOARS.
    10.1093/humupd/dmq005
  28. Gonçalves, João. "Characterizing partial AZFc deletions of the Y chromosome with amplicon-specific sequence markers". BMC Genomics 8 (2007): http://www.scopus.com/inward/record.url?eid=2-s2.0-37549035392&partnerID=MN8TOARS.
    10.1186/1471-2164-8-342
  29. Gonçalves, João. "Congenital adrenal hyperplasia: Focus on the molecular basis of 21-hydroxylase deficiency". Expert Reviews in Molecular Medicine 9 11 (2007): 1-23. http://www.scopus.com/inward/record.url?eid=2-s2.0-34547228303&partnerID=MN8TOARS.
    10.1017/S1462399407000300
  30. Gonçalves, João. "No evidence for an mtDNA Role in sperm motility: Data from complete sequencing of asthenozoospermic males". Molecular Biology and Evolution 24 3 (2007): 868-874. http://www.scopus.com/inward/record.url?eid=2-s2.0-33847639203&partnerID=MN8TOARS.
    10.1093/molbev/msm004
  31. Gonçalves, João. "Mutation C11994T in the mitochondrial ND4 gene is not a cause of low sperm motility in Portugal". Fertility and Sterility 89 3 (2007): 738-741. http://www.scopus.com/inward/record.url?eid=2-s2.0-40249111678&partnerID=MN8TOARS.
    10.1016/j.fertnstert.2007.03.048
  32. Gonçalves, João. "CYP21A2 mutations in Portuguese patients with congenital adrenal hyperplasia: Identification of two novel mutations and characterization of four different partial gene conversions". Molecular Genetics and Metabolism 88 1 (2006): 58-65. http://www.scopus.com/inward/record.url?eid=2-s2.0-33646473251&partnerID=MN8TOARS.
    10.1016/j.ymgme.2005.11.015
  33. Gonçalves, João. "Human mtDNA haplogroups and reduced male fertility: real association or hidden population substructuring.". (2005): http://europepmc.org/abstract/med/16048637.
    10.1111/j.1365-2605.2005.00539.x
  34. Ferrão L; Lopes ML; Limbert C; Marques B; Boieiro F; Silva M; Marques R; et al. "[Screening for Y chromosome sequences in patients with Turner syndrome].". (2002): http://europepmc.org/abstract/med/15524154.
  35. Gonçalves, João. "An African origin for an “American black” ß°-thalassemia mutation?". American Journal of Hematology 46 4 (1994): 373-374. http://dx.doi.org/10.1002/ajh.2830460425.
    10.1002/ajh.2830460425
  36. Lavinha J; Gonçalves J; Paula Faustino; Romão L; Osório-Almeida L; Peres MJ; Picanço I; et al. "Importation route of the sickle cell trait into Portugal: contribution of molecular epidemiology.". Human biology (1992):
  37. Gonçalves, João. "Novel promoter and splice junction defects add to the genetic, clinical or geographic heterogeneity of ?-thalassaemia in the Portuguese population". Human Genetics 89 5 (1992): http://dx.doi.org/10.1007/bf00219188.
    10.1007/bf00219188
Newspaper article
  1. "A de novo paradigm for male infertility", NATURE COMMUNICATIONS , 2022, https://doi.org/10.1038/s41467-021-27132-8.
    0.1038/s41467-021-27132-8
  2. "Disruption of human meiotic telomere complex genes TERB1, TERB2 and MAJIN in men with non-obstructive azoospermia", Human Genetics, 2021, https://doi.org/10.1007/s00439-021-02287-y.
    10.1007/s00439-021-02287-y
  3. "Variants in GCNA, X linked germ cell genome integrity gene, identifed in men with primary spermatogenic failure", Human Genetics , 2021, https://doi.org/10.1007/s00439-021-02287-y.
    10.1007/s00439-021-02287-y