Publications

Queiroz, G., Monteiro, C., Manco, L., Relvas, L., Trovoada, M. de J., Leite, A., & Bento, C. (2024). Sickle cell trait in São Tomé e Príncipe: a population-based prevalence study in women of reproductive age. BMC Public Health, 24(1), 850. https://doi.org/10.1186/s12889-024-17761-1

Dias, H. C., & Manco, L. (2024). Predicting age from blood by droplet digital PCR using a set of three DNA methylation markers. Forensic Science International, 356, 111950. https://doi.org/10.1016/j.forsciint.2024.111950

Delamare, M., Le Roy, A., Pacault, M., Schmitt, L., Garrec, C., Maaziz, N., Myllykoski, M., Rimbert, A., Karaghiannis, V., Aral, B., Catherwood, M., Airaud, F., Mansour-Hendili, L., Hoogewijs, D., Peroni, E., Idriss, S., Lesieur, V., Caillaud, A., Si-Tayeb, K., … ECYT-3 consortium. (2023). Characterization of genetic variants in the EGLN1/PHD2 gene identified in a European collection of patients with erythrocytosis. Haematologica, 108(11), 3068–3085. https://doi.org/10.3324/haematol.2023.282913

Manco, L., Albuquerque, D., Rodrigues, D., Machado-Rodrigues, A. M., & Padez, C. (2023). Protective Association of APOC1/rs4420638 with Risk of Obesity: A case-control Study in Portuguese Children. Biochemical Genetics. https://doi.org/10.1007/s10528-023-10427-4

Videira-Silva, A., Manco, L., Sardinha, L. B., & Fonseca, H. (2023). Vigorous physical activity: A potential ally in adolescent obesity management. European Journal of Sport Science, 23(4), 607–616. https://doi.org/10.1080/17461391.2022.2035437

Manco, L., Pereira, J., Fidalgo, T., Cunha, M., Pinto-Gouveia, J., Padez, C., & Palmeira, L. (2023). Next-generation sequencing of 12 obesity genes in a Portuguese cohort of patients with overweight and obesity. European Journal of Medical Genetics, 66(4), 104728. https://doi.org/10.1016/j.ejmg.2023.104728

Manco, L., Bento, C., Relvas, L., Maia, T., & Ribeiro, M. L. (2023). Molecular Heterogeneity of Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency in the Portuguese Population. Acta Medica Portuguesa, 36(2), 81–87. https://doi.org/10.20344/amp.17584

Karaghiannis, V., Maric, D., Garrec, C., Maaziz, N., Buffet, A., Schmitt, L., Antunes, V., Airaud, F., Aral, B., Roy, A. L., Corbineau, S., Mansour-Hendili, L., Lesieur, V., Rimbert, A., Laporte, F., Delamare, M., Rab, M., Bézieau, S., Cassinat, B., … Gardie, B. (2023). Comprehensive in silico and functional studies for classification of EPAS1/HIF2A genetic variants identified in patients with erythrocytosis. Haematologica, 108(6), 1652–1666. https://doi.org/10.3324/haematol.2022.281698

Manco, L., Albuquerque, D., Aranda, B., Rodrigues, D., Machado-Rodrigues, A. M., & Padez, C. (2023). Differential sex-association between PCSK1 polymorphisms and obesity risk in Portuguese children. American Journal of Human Biology, n/a(n/a), e24023. https://doi.org/10.1002/ajhb.24023

Mañú Pereira, M. D. M., Colombatti, R., Alvarez, F., Bartolucci, P., Bento, C., Brunetta, A. L., Cela, E., Christou, S., Collado, A., de Montalembert, M., Dedeken, L., Fenaux, P., Galacteros, F., Glenthøj, A., Gutiérrez Valle, V., Kattamis, A., Kunz, J., Lobitz, S., McMahon, C., … Gulbis, B. (2023). Sickle cell disease landscape and challenges in the EU: the ERN-EuroBloodNet perspective. The Lancet. Haematology, 10(8), e687–e694. Scopus. https://doi.org/10.1016/S2352-3026(23)00182-5

Kountouris, P., Stephanou, C., Lederer, C. W., Traeger-Synodinos, J., Bento, C., Harteveld, C. L., Fylaktou, E., Koopmann, T. T., Halim-Fikri, H., Michailidou, K., Nfonsam, L. E., Waye, J. S., Zilfalil, B. A., Kleanthous, M., & ClinGen Hemoglobinopathy Variant Curation Expert Panel. (2022). Adapting the ACMG/AMP variant classification framework: A perspective from the ClinGen Hemoglobinopathy Variant Curation Expert Panel. Human Mutation, 43(8), 1089–1096. https://doi.org/10.1002/humu.24280

Manco, L., Santos, R., Rocha, C., Relvas, L., Bento, C., Maia, T., Gomes, V., Amorim, A., & Prata, M. J. (2022). Hb F Levels in β-Thalassemia Carriers and Normal Individuals: Known and Unknown Quantitative Trait Loci in the β-Globin Gene Cluster. Hemoglobin, 46(3), 168–175. https://doi.org/10.1080/03630269.2022.2070498

Manco, L., & Dias, H. C. (2022). DNA methylation analysis of ELOVL2 gene using droplet digital PCR for age estimation purposes. Forensic Science International, 333, 111206. https://doi.org/10.1016/j.forsciint.2022.111206

Kirschner, M., Heinen, I. R., Koschmieder, S., Manco, L., Bento, C., Eggermann, T., Kurth, I., Jost, E., Brümmendorf, T. H., & Fuchs, R. (2022). Novel homozygous nonsense mutation in the P5′N-1 coding gene as an alternative cause for hereditary anemia with basophilic stippling. Clinical Case Reports, 10(3), e05501. https://doi.org/10.1002/ccr3.5501

Pascual, C., Nieto, J. M., Fidalgo, T., Seguí, I. G., Díaz-Ricart, M., Docampo, M. F., del Rio, J., & Salinas, R. (2021). Multicentric evaluation of the new HemosIL Acustar® chemiluminescence ADAMTS13 activity assay. International Journal of Laboratory Hematology, 43(3), 485–493. https://doi.org/10.1111/ijlh.13414

Correia Dias, H., Manco, L., Corte Real, F., & Cunha, E. (2021). A Blood–Bone–Tooth Model for Age Prediction in Forensic Contexts. Biology, 10(12), 1312. https://doi.org/10.3390/biology10121312

Dias, H. (2021). Metilação de DNA como um preditor de idade à morte. Tese de Doutoramento em Antropologia, especialização em Antropologia Forense. Departamento de Ciências da Vida, Faculdade de Ciências e Tecnologia, Universidade de Coimbra [Orientação: Professora Eugénia Cunha, Professor Licínio Manco, Professor Francisco Corte Real].

González, L., García‑Herráiz, A., Mota‑Zamorano, S., Flores, I., Albuquerque, D., & Gervacini, G. (2021). Variability in cannabinoid receptor genes is associated with psychiatric comorbidities in anorexia nervosa. Eating and Weight Disorders, [Early View]. https://doi.org/10.1007/s40519-021-01106-7

Moreira Fonseca, N., Cardoso, F., Monteiro, M., Góis, M., Sousa, H., Fidalgo, T., Calado, J., & Nolasco, F. (2020). A case of bortezomib-associated thrombotic microangiopathy in a multiple myeloma patient. Journal of Onco-Nephrology, 4(1–2), 46–51. https://doi.org/10.1177/2399369319894343

Relvas, M., Tavares, I., Fidalgo, T., Mendonça, L., & Coentrão, L. (2020). Reviewing thrombotic thrombocytopenic purpura diagnosis and treatment in a Portuguese hospital. European Journal of Internal Medicine, 71, 95–97. https://doi.org/10.1016/j.ejim.2019.11.004

Manco, L., Bento, C., Relvas, L., Cunha, E., Pereira, J., Moreira, V., Alvarez, M., Maia, T., & Ribeiro, M. L. (2020). Multi-Locus Models to Address Hb F Variability in Portuguese β-Thalassemia Carriers. Hemoglobin – International Journal for Hemoglobin Research, 44(2), 113–117. https://doi.org/10.1080/03630269.2020.1753766

Manco, L., Machado-Rodrigues, A. M., & Padez, C. (2020). Association study of common functional genetic polymorphisms in SLC6A4 (5-HTT) and MAOA genes with obesity in portuguese children. Archives of Physiology and Biochemistry, Epub(Jun), 1–6. https://doi.org/10.1080/13813455.2020.1779312

Correia Dias, H., Corte Real, F., Cunha, E., & Manco, L. (2020). DNA methylation age estimation from human bone and teeth. Australian Journal of Forensic Sciences, [Epub]. https://doi.org/10.1080/00450618.2020.1805011

Correia Dias, H., Cunha, E., Corte Real, F., & Manco, L. (2020). Age prediction in living: Forensic epigenetic age estimation based on blood samples. Legal Medicine, 47, 101763. https://doi.org/10.1016/j.legalmed.2020.101763

Correia Dias, H., Cordeiro, C., Pereira, J., Pinto, C., Real, F. C., Cunha, E., & Manco, L. (2020). DNA methylation age estimation in blood samples of living and deceased individuals using a multiplex SNaPshot assay. Forensic Science International, 311, 110267. https://doi.org/10.1016/j.forsciint.2020.110267

Correia Dias, H., Cordeiro, C., Real, F. C., Cunha, E., & Manco, L. (2020). Age Estimation Based on DNA Methylation Using Blood Samples From Deceased Individuals. Journal of Forensic Sciences, 65(2), 465–470. https://doi.org/10.1111/1556-4029.14185

Michiels, J. J., Hansen, D. F., Smejkal, P., Fidalgo, T., Battle, F. J., Blatny, J., Penka, M., Batorova, A., Prigancova, T., Budde, U., Vangenechten, I., & Gadisseur, A. (2019). Molecular Etiology and Laboratory Phenotypes of Recessive Von Willebrand Disease 2N Due to Mutations in the D’D3 Factor VIII-Binding Domain of the Von Willebrand Factor Gene: A Critical Appraisal of the Literature and Personal Experiences. Acta Scientific Medical Sciences, 3(12). https://doi.org/http://dx.doi.org/10.31080/asms.2019.03.0483

Mutlu, B., Keskin, E. Y., Oliveira, A., Relvas, L., & Bento, C. (2019). A Rare Cause of Cyanosis Since Birth: Hb M-Iwate. Turkish Journal of Haematology, 36(4), 299–301. https://doi.org/10.4274/tjh.galenos.2019.2019.0123

Palmeira, L., Cunha, M., Padez, C., Alvarez, M., Pinto-Gouveia, J., & Manco, L. (2019). Association study of variants in genes FTO, SLC6A4, DRD2, BDNF and GHRL with binge eating disorder (BED) in Portuguese women. Psychiatry Research, 273, 309–311. https://doi.org/10.1016/j.psychres.2019.01.047

Marini, S. C., Carda, P., Guilherme, R., Pinto, C. S., Fidalgo, T., & Ribeiro, M. L. (2019). Atypical hemolytic – uremic syndrome : recurrent phenotypic expression of a patient with MCP gene mutation combined with risk haplotypes. BLOOD COAGULATION & FIBRINOLYSIS, 30(2), 68–70. https://doi.org/10.1097/MBC.0000000000000793

Manco, L., Pinho, S., Albuquerque, D., Machado-Rodrigues, A. M., & Padez, C. (2019). Physical activity and the association between the FTO rs9939609 polymorphism and obesity in Portuguese children aged 3 to 11 years. American Journal of Human Biology, 31([Epub ahead of print]), e23312. https://doi.org/10.1002/ajhb.23312

Borràs, N., & [...] & Fidalgo, T. (2019). Unraveling the effect of silent, intronic and missense mutations on VWF splicing: contribution of next generation sequencing in the study of mRNA. Haematologica, 104(3), 587–598. https://doi.org/10.3324/haematol.2018.203166

Gimeno-Ferrer, F., Albuquerque, D., Banacloy, A. G., Luján, C. G., Benito, G. M., Juan, C. S., Esteban, M. B., & Rodríguez-López, R. (2019). Genetic screening for MC4R gene identifies three novel mutations associated with severe familiar obesity in a cohort of Spanish individuals. Gene, April([In press]). https://doi.org/10.1016/j.gene.2019.04.018

Gimeno-Ferrer, F., Albuquerque, D., Luján, C. G., Benito, G. M., Banzas, C. T., Repáraz-Andrade, A., Cogollos, V. B., Pérez-Gramunt, M. A., Gómez, E. G., Quintela, I., & Rodríguez-López, R. (2019). The effect of copy number variations in chromosome 16p on body weight in patients with intellectual disability. Journal of Human Genetics, 64(3), 221–231. https://doi.org/10.1038/s10038-018-0545-5

Albuquerque, D., González, L. M., Ferrer, F. G., Bruna, M., Sánchez, C., Benito, G. M., Rodríguez-López, R., & Manco, L. (2018). Association study of six single nucleotide polymorphisms with obesity in two independent Iberian samples. Meta Gene, 17, 17–22. https://doi.org/10.1016/j.mgene.2018.04.006

Navarro, D., Azevedo, A., Sequeira, S., Ferreira, A., Carvalho, F., Fidalgo, T., Vilarinho, L., Santos, M., Calado, J., & Nolasco, F. (2018). Atypical adult-onset methylmalonic acidemia and homocystinuria presenting as hemolytic uremic syndrome. CEN Case Reports, 7(1), 73–76. https://doi.org/10.1007/s13730-017-0298-6

Azevedo, A., Faria, B., Teixeira, C., Carvalho, F., Neto, G., Santos, J., Santos, M. C., Oliveira, N., Fidalgo, T., & Calado, J. (2018). Portuguese Consensus Document Statement in diagnostic and management of atypical hemolytic uremic syndrome. Port J Nephrol Hypertens, 32, 211–232.

Gimeno-Ferrer, F., Albuquerque, D., Ledesma, M., Monzó, C., Gervasini, G., Angueira, F., Carbonell, J., Benito, G., Rodríguez-López, R., & Gómez, E. (2018). Molecular characterization of the coexistence of 18q haploinsufficiency and 18p duplication, causal of a complex syndromic phenotype. Genética Médica y Genómica, [Epub].

Coelho, S., Fernandes, A., Soares, E., Valério, P., Matos, B., Romão, H., Góis, M., Sousa, H., Fidalgo, T., Natário, A., & Barreto, C. (2018). A new complement factor B mutation associated with crescentic C3 glomerulopathy; a case report. Journal of Nephropathology, 7([Epub]). https://doi.org/10.15171/jnp.2018.xx

Barradas, J., Rodrigues, C., Ferreira, G., Rocha, P., Constanço, C., Andrade, M., Bento, C., & Silva, H. (2018). Congenital erythrocytosis – discover of a new mutation in the EGLN 1 gene. Clinical Case Reports, 6(6), 1109–1111. https://doi.org/10.1002/ccr3.1499

Manco, L., Soares, A., & Wasterlain, S. N. (2018). Association of 5-HTTLPR genotypes with antissocial behavior in response to childhood environment: a study in young adults of Portuguese origin. Psychiatry Research, 262, 325–327. https://doi.org/10.1016/j.psychres.2017.01.001

Pinho, S., Padez, C., & Manco, L. (2018). High AMY1 copy number protects against obesity in Portuguese young adults. Annals of Human Biology, 45(5), 435–439. https://doi.org/10.1080/03014460.2018.1490452

Silva, M. J. F. (2018). Applying Landscape Genetic Tools to Biological Anthropology: Conservation of Nonhuman Primate Species in Guinea-Bissau, West Africa. CAPP/ISCSP da UL, CIBIO e Universidade de Cardiff [Co-orientação: Professora Catarina Casanova].

Alvarez, M. (2018). O envelhecimento e a saúde. In Excelência em Saúde 2. FAF.

Alvarez, M. (2018). Os determinantes biológicos, sociais e culturais do envelhecimento saudável. In Manual de Boas práticas para o Envelhecimento Activo e Saudável (Agein@Coimbra e Comissão de Coordenação e Desenvolvimento da Região Centro). http://www.ccdrc.pt/index.regiao-centro-partilha- boas-praticas-de-envelhecimento-ativo-e- saudavel&catid=1573:destaques&Itemid=756

Lobitz, Z., Telfer, P., Cela, E., Allaf, B., Angastiniotis, M., Backman Johansson, C., Badens, C., Bento, C., Bouva, M. J., Canatan, D., Charlton, M., Coppinger, C., Daniel, Y., de Montalembert, M., Ducoroy, P., Dulin, E., Fingerhut, R., Frömmel, C., García-Morin, M., … with the endorsement of EuroBloodNet, the European Reference Network in Rare Haematological Diseases. (2018). Newborn screening for sickle cell disease in Europe: recommendations from a Pan- European Consensus Conference. British Journal of Haematology, 183(4), 648–660. https://doi.org/10.1111/bjh.15600

Manco, L., Albuquerque, D., Sousa, M., Martiniano, R., de Oliveria, R., Marques, S., Gomes, V., Amorim, A., Alvarez, L., & Prata, M. (2018). The Eastern side of the Westernmost Europeans: Insights from subclades within Y-chromosome haplogroup J-M304. American Journal of Human Biology, 30(2), e23082. https://doi.org/10.1002/ajhb.23082

Manco, L., Silva, C., Fidalgo, T., Martinho, P., Sarmento, A., & Ribeiro, M. (2018). Venous thromboembolism risk associated with ABO, F11 and FGG loci. Blood Coagulation and Fibrinolysis, 29(6), 528–532. https://doi.org/10.1097/MBC.0000000000000753

Fidalgo, T., Martinho, P., Silva Pinto, C., Catarino, C., Rodrigues, F., Salvado, R., Carvalho, M., Calheiros, M., Caetano, G., Azevedo, J., Araújo, L. F., Kjollerstrom, P., Costa, M., & Ribeiro, M. L. (2018). Estudio de coagulopatias hereditarias por secuenciación masiva (NGS) La experiencia de un centro de diagnóstico. Thrombosis and Haemostasis, Ponencias y Comunicaciones Sociedad Española de Trombosis y Hemostasia, Granada, 11-13 de octubre de 2018, 140–141.

Borràs Agustí, N., & [...] & Fidalgo, T. (2018). Explorando el efecto de mutaciones intrónicas, sinónimas y missense del VWF sobre el splicing: aportación de la NGS en el estudio del RNA. Thrombosis and Haemostasis, Ponencias y Comunicaciones Sociedad Española de Trombosis y Hemostasia (11-13 de octubre de 2018), 93–94.