Celeste Bento (2F17-8B0A-2D56)

Curriculum Vitae

Celeste Bento

Celeste Bento is the coordinator of the Congenital Red Blood Cell Diseases Unit at University Hospital Coimbra, Portugal. She is a Clinical Laboratory Geneticist certified by the European Board of Medical Genetics, and obtained his PhD in Biomedicine from ICBAS, University of Porto, with a thesis in advances in the Molecular Characterization of Congenital Erythrocytosis. She is also a researcher at the Research Centre for Anthropology and Health (CIAS), University of Coimbra. Main scientific areas of research are Hemoglobinopathies, Congenital Hemolytic Anemias and Congenital Erythrocytosis. In addition to his research activities, Dr Bento is involved in national scientific and patients associations, and international groups, as the European network for Experts on the Molecular Diagnosis of Myeloproliferative Neoplasm and MPN-related congenital diseases (MPN&MPNr-Euronet), the EuroBloodNet, the Red Cell and Iron Disorders group of EHA and the Human Variome Project.

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Identification

Personal identification

Full name: Celeste Bento

Citation names

Bento, Celeste
Bento, C

Author identifiers

Ciência ID: 2F17-8B0A-2D56
ORCID iD: 0000-0003-1080-411X

Websites

http://chuc-hematologiaclinica.org/ (Professional)
http://cias.uc.pt/ (Professional)

Knowledge fields

Medical and Health Sciences - Basic Medicine - Human Genetics

Languages

Language	Speaking	Reading	Writing	Listening	Peer-review
English	Advanced (C1)	Proficiency (C2)	Advanced (C1)	Advanced (C1)	Advanced (C1)
Portuguese (Mother tongue)
Spanish; Castilian	Advanced (C1)	Proficiency (C2)	Intermediate (B1)	Advanced (C1)	Advanced (C1)
French	Elementary (A2)	Intermediate (B1)	Elementary (A2)	Intermediate (B1)	Beginner (A1)

Education

	Degree	Classification
2015/07/06 Concluded	Doutoramento (Doutoramento) Major in Biomedicine Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal "Tese "Advances in the Molecular Characterization of Congenital Erythrocytosis" " (THESIS/DISSERTATION)	Excelente
2015 Concluded	Ciências Biomédicas (Doutoramento) Major in Sem especialidade Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal "Novel insights on molecular characterization of congenital erythrocytosis" (THESIS/DISSERTATION)	Aprovado com distinção
2014 Concluded	Clinical Laboratory Geneticist (Postgraduate Certificate) European Society of Human Genetics , France
1996 Concluded	Grau de especialista em Genética (Especialização pós-licenciatura) Administração Central do Sistema de Saúde do Ministério da Saúde, Portugal	Muito Bom
1995 Concluded	Mestrado em Biologia Celular e Molecular (Mestrado) Universidade de Coimbra, Portugal	Exceçlente
1989 Concluded	Bioquímica (Licenciatura) Universidade de Coimbra, Portugal	Muito Bom

Affiliation

Science

	Category Host institution	Employer
2015/07/24 - Current	Postdoc (Research)	Universidade de Coimbra, Portugal

Other Careers

	Category Host institution	Employer
1992/12/01 - Current	Assessor (Técnico Superior de Saúde)	Centro Hospitalar e Universitário de Coimbra EPE, Portugal

Projects

Contract

	Designation	Funders
2006/01/02 - Current	Estudo para determinar se na Doença Mieloproliferativa a perda de heterozigotia para a mutação JAK2 V617F e o aumento dos níveis de CD34+, de granulocitos e plaquetas activados em circulação se correlacionam com a progressão da doença PTDC/SAU-GMG/74375/2006 Researcher	Concluded

Other

	Designation	Funders
2013 - Current	Whole Genome Sequencing 500 WGS500 Researcher
2012/01/01 - Current	Web-based International database for Congenital Erythrocytosis MPN&MPNr-Euronet Technical development	Concluded

Outputs

Publications

Book chapter	Bento, C. "Capitulo 1: Eritropoyesis". In ERITROPATOLOGIA. Spain: Ambos Marketing Services, Barcelona, 2017. Published Bento, C. "Capitulo 7: Eritrocitosis Congénitas". In Eritropatologia. Spain: Ambos Marketing Services, Barcelona, 2017. Published Bento, C. "Primary Familial and Congenital Polycythemia". In GENEREVIEWS. United States: Seattle (WA): University of Washington, Seattle; 1993-2019, 2016. Published Bento, C. "Capítulo 30: Estudio molecular de las hemoglobinopatías y talasemias". In GENÉTICA HEMATOLÓGICA - MANUAL PRÁCTICO. Spain: Ambos Marketing Services, Barcelona, 2016. Published Bento, C. "Capítulo 36: Eritrocitosis Congénitas". In GENÉTICA HEMATOLÓGICA - MANUAL PRÁCTICO. Spain: Ambos Marketing Services, Barcelona, 2016. Published
Edited book	Bento, C. CONGENITAL ERYTHROCYTOSIS AND HEREDITARY THROMBOCYTOSIS: CLINICAL PRESENTATION, DIAGNOSIS, TREATMENT AND FOLLOW-UP. MPN&MPNr-Euronet COST Action. 2015. Published Bento, C. CURSO DE FORMAÇÃO PARA INTERNOS DE PEDIATRIA. Portugal: Centro de Investigação e Formação Clínica do HPC, Coimbra. 2014. Published
Journal article	Pagnamenta, Alistair T.; Camps, Carme; Giacopuzzi, Edoardo; Taylor, John M.; Hashim, Mona; Calpena, Eduardo; Kaisaki, Pamela J.; et al. "Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases". Genome Medicine 15 1 (2023): http://dx.doi.org/10.1186/s13073-023-01240-0. 10.1186/s13073-023-01240-0 Mañú Pereira, María del Mar; Colombatti, Raffaella; Alvarez, Federico; Bartolucci, Pablo; Bento, Celeste; Brunetta, Angelo Loris; Cela, Elena; et al. "Sickle cell disease landscape and challenges in the EU: the ERN-EuroBloodNet perspective". The Lancet Haematology 10 8 (2023): e687-e694. http://dx.doi.org/10.1016/s2352-3026(23)00182-5. 10.1016/s2352-3026(23)00182-5 Harteveld, Cornelis L.; Patrinos, George P.; Traeger-Synodinos, Joanne; Kountouris, Petros; Bento, Celeste; Adekile, Adekunle. "Submitting Novel Globin Gene Variants to Hemoglobin". Hemoglobin 47 4 (2023): 135-136. http://dx.doi.org/10.1080/03630269.2023.2258618. 10.1080/03630269.2023.2258618 Delamare, Marine; Le Roy, Amandine; Pacault, Mathilde; Schmitt, Loïc; Garrec, Céline; Maaziz, Nada; Myllykoski, Matti; et al. "Characterization of genetic variants in the <i>EGLN1/PHD2</i> gene identified in a European collection of patients with erythrocytosis". Haematologica 108 11 (2023): 3068-3085. http://dx.doi.org/10.3324/haematol.2023.282913. 10.3324/haematol.2023.282913 Karaghiannis, Valéna; Maric, Darko; Garrec, Céline; Maaziz, Nada; Buffet, Alexandre; Schmitt, Loïc; Antunes, Vincent; et al. "Comprehensive in silico and functional studies for classification of EPAS1/HIF2A genetic variants identified in patients with erythrocytosis". Haematologica 108 6 (2023): 1652-1666. http://dx.doi.org/10.3324/haematol.2022.281698. 10.3324/haematol.2022.281698 Minaidou, Anna; Tamana, Stella; Stephanou, Coralea; Xenophontos, Maria; Harteveld, Cornelis L.; Bento, Celeste; Kleanthous, Marina; Kountouris, Petros. "A Novel Tool for the Analysis and Detection of Copy Number Variants Associated with Haemoglobinopathies". International Journal of Molecular Sciences 23 24 (2022): 15920. http://dx.doi.org/10.3390/ijms232415920. 10.3390/ijms232415920 Tamana, Stella; Xenophontos, Maria; Minaidou, Anna; Stephanou, Coralea; Harteveld, Cornelis L; Bento, Celeste; Traeger-Synodinos, Joanne; et al. "Evaluation of in silico predictors on short nucleotide variants in HBA1, HBA2, and HBB associated with haemoglobinopathies". eLife 11 (2022): http://dx.doi.org/10.7554/elife.79713. 10.7554/elife.79713 Manco, Licínio; Bento, Celeste; Relvas, Luís; Maia, Tabita; Ribeiro, Maria Letícia. "Heterogeneidade Molecular da Deficiência em Glicose-6-Fosfato Desidrogenase (G6PD) na População Portuguesa". Acta Médica Portuguesa (2022): http://dx.doi.org/10.20344/amp.17584. 10.20344/amp.17584 Dasdemir, Sevgi; Kaya, Zühre; Bento, Celeste. "Peripheral Blood Smear Findings in 2 Patients With Coexisting Thalassemia and Hereditary Spherocytosis". Journal of Pediatric Hematology/Oncology 45 3 (2022): 149-150. http://dx.doi.org/10.1097/mph.0000000000002554. 10.1097/mph.0000000000002554 Rodrigues, Catarina Dantas; Pombal, Rita; Pereira, Janet; Relvas, Luís; Cunha, Elizabete; Almeida, José Carlos; Maia, Tabita; Silva, Helena; Bento, Celeste. "Variants in the new E1' cryptic exon of the VHL gene associated with congenital erythrocytosis—Description of three cases". eJHaem 3 3 (2022): 989-991. http://dx.doi.org/10.1002/jha2.490. 10.1002/jha2.490 Licínio Manco; Raquel Santos; Catarina Rocha; Luís Relvas; Celeste Bento; Tabita Maia; Verónica Gomes; António Amorim; Maria J. Prata. "Hb F Levels in ß-Thalassemia Carriers and Normal Individuals: Known and Unknown Quantitative Trait Loci in the ß-Globin Gene Cluster". Hemoglobin (2022): https://doi.org/10.1080/03630269.2022.2070498. 10.1080/03630269.2022.2070498 Kirschner, Martin; Heinen, Inga Rebecca; Koschmieder, Steffen; Manco, Licinio; Bento, Celeste; Eggermann, Thomas; Kurth, Ingo; et al. "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 (2022): http://dx.doi.org/10.1002/ccr3.5501. 10.1002/ccr3.5501 Kountouris, Petros; Stephanou, Coralea; Lederer, Carsten W.; Traeger-Synodinos, Joanne; Bento, Celeste; Harteveld, Cornelis L.; Fylaktou, Eirini; et al. "Adapting the ACMG/AMP variant classification framework: A perspective from the ClinGen Hemoglobinopathy Variant Curation Expert Panel". Human Mutation 43 8 (2021): 1089-1096. http://dx.doi.org/10.1002/humu.24280. 10.1002/humu.24280 Licínio Manco; Celeste Bento; Luís Relvas; Elisabete Cunha; Janet Pereira; Valeria Moreira; Manuela Alvarez; Tabita Maia; M. Letícia Ribeiro. "Multi-Locus Models to Address Hb F Variability in Portuguese ß-Thalassemia Carriers". Hemoglobin 44 2 (2020): 113-117. https://doi.org/10.1080/03630269.2020.1753766. 10.1080/03630269.2020.1753766 Celeste Bento; Petros Kountouris; Coralea Stephanou; Carsten W. Lederer; Marina Kleanthous. "Variant Scoring Based on ClinGen Tools and Hemoglobinopathy-Specific Criteria". Hemoglobin 43 6 (2019): 326-326. https://doi.org/10.1080/03630269.2020.1719589. 10.1080/03630269.2020.1719589 Barradas, J.; Rodrigues, C.D.; Ferreira, G.; Rocha, P.; Constanço, C.; Andrade, M.R.; Bento, C.; Silva, H.M.. "Congenital erythrocytosis – discover of a new mutation in the EGLN1 gene". Clinical Case Reports 6 6 (2018): 1109-1111. http://www.scopus.com/inward/record.url?eid=2-s2.0-85050039248&partnerID=MN8TOARS. 10.1002/ccr3.1499 Bento, C.. "Genetic basis of congenital erythrocytosis". International Journal of Laboratory Hematology 40 (2018): 62-67. http://www.scopus.com/inward/record.url?eid=2-s2.0-85046829212&partnerID=MN8TOARS. 10.1111/ijlh.12828 Lenglet, M.; Robriquet, F.; Schwarz, K.; Camps, C.; Couturier, A.; Hoogewijs, D.; Buffet, A.; et al. "Identification of a new VHL exon and complex splicing alterations in familial erythrocytosis or von Hippel-Lindau disease". Blood 132 5 (2018): 469-483. http://www.scopus.com/inward/record.url?eid=2-s2.0-85051219558&partnerID=MN8TOARS. 10.1182/blood-2018-03-838235 Lobitz, Stephan; Telfer, Paul; Cela, Elena; Allaf, Bichr; Angastiniotis, Michael; Backman Johansson, Carolina; Badens, Catherine; et al. "Newborn screening for sickle cell disease in Europe: recommendations from a Pan-European Consensus Conference". British Journal of Haematology 183 4 (2018): 648-660. http://hdl.handle.net/10400.18/6266. 10.1111/bjh.15600 Yilmaz Keskin E; Fettah A; Oliveira AC; Toprak S; Lopes A; Bento C. "First Observation of Hemoglobin San Diego, a High Oxygen Affinity Hemoglobin Variant, in Turkey.". Turkish journal of haematology : official journal of Turkish Society of Haematology (2017): http://europepmc.org/abstract/med/28832008. 10.4274/tjh.2017.0213 Bento, C. "ITHANET: Information and database community portal for haemoglobinopathies.". bioRxiv (2017): https://doi.org/10.1101/209361. Published Del Orbe Barreto R; Arrizabalaga B; De la Hoz AB; García-Orad Á; Tejada MI; Garcia-Ruiz JC; Fidalgo T; et al. "Detection of new pathogenic mutations in patients with congenital haemolytic anaemia using next-generation sequencing.". International journal of laboratory hematology (2016): http://europepmc.org/abstract/med/27427187. 10.1111/ijlh.12551 Del Orbe Barreto R; Arrizabalaga B; De la Hoz Rastrollo AB; García-Orad A; Gonzalez Vallejo I; Bento C; Villegas A; García-Ruiz JC. "Hereditary xerocytosis, a misleading anemia.". Annals of hematology (2016): http://europepmc.org/abstract/med/27250707. 10.1007/s00277-016-2716-9 Del Orbe Barreto R; Arrizabalaga B; de la Hoz AB; Aragües P; Garcia-Ruiz JC; Arrieta A; Adán R; et al. "Severe neonatal jaundice due to a de novo glucose-6-phosphate dehydrogenase deficient mutation.". International journal of laboratory hematology (2016): http://europepmc.org/abstract/med/26693676. 10.1111/ijlh.12455 Cabral V; Silva Nunes J; Bento C; Sobreira R; Rodrigues I; Shvets R; Silvestre MJ; Barros R. "Haemoglobin kenitra identified in a Portuguese man with type 2 diabetes and pheochromocytoma.". International journal of laboratory hematology (2016): http://europepmc.org/abstract/med/26541898. 10.1111/ijlh.12437 Engert A; Balduini C; Brand A; Coiffier B; Cordonnier C; Döhner H; de Wit TD; et al. "The European Hematology Association Roadmap for European Hematology Research: a consensus document.". Haematologica (2016): http://europepmc.org/abstract/med/26819058. 10.3324/haematol.2015.136739 Camps, Carme; Petousi, Nayia; Bento, Celeste; Cario, Holger; Copley, Richard R.; McMullin, Mary Frances; van Wijk, Richard; et al. "Gene panel sequencing improves the diagnostic work-up of patients with idiopathic erythrocytosis and identifies new mutations". Haematologica (2016): http://hdl.handle.net/10316/45850. 10.3324/haematol.2016.144063 Abecasis, Francisco; Marques, Inês; Bento, Celeste; Ferrão, Anabela; Abecasis F; Marques I; Bento C; Ferrão A. "A novel haemoglobin variant mimicking cyanotic congenital heart disease". BMJ case reports (2016): http://hdl.handle.net/10316/45843. 10.1136/bcr-2015-213615 Pereira, Janet; Bento, Celeste; Manco, Licinio; Gonzalez, Ataulfo; Vagace, Jose; Ribeiro, Maria Letícia; Pereira J; et al. "Congenital dyserythropoietic anemia associated to a GATA1 mutation aggravated by pyruvate kinase deficiency". Annals of hematology (2016): http://hdl.handle.net/10316/45869. 10.1007/s00277-016-2720-0 Manco, Licínio; Bento, Celeste; Victor, Bruno L.; Pereira, Janet; Relvas, Luís; Brito, Rui M.; Seabra, Carlos; et al. "Hereditary nonspherocytic hemolytic anemia caused by red cell glucose-6-phosphate isomerase (GPI) deficiency in two Portuguese patients: Clinical features and molecular study". Blood cells, molecules & diseases (2016): http://hdl.handle.net/10316/45864. 10.1016/j.bcmd.2016.06.002 McMullin MF; Bento C; Rossi C; Rainey MG; Girodon F; Cario H. "Outcomes of pregnancy in patients with congenital erythrocytosis.". British journal of haematology (2015): http://europepmc.org/abstract/med/25732921. 10.1111/bjh.13313 Taylor JC; Martin HC; Lise S; Broxholme J; Cazier JB; Rimmer A; Kanapin A; et al. "Factors influencing success of clinical genome sequencing across a broad spectrum of disorders.". Nature genetics (2015): http://europepmc.org/abstract/med/25985138. 10.1038/ng.3304 Pereira C; Relvas L; Bento C; Abade A; Ribeiro ML; Manco L; Pereira, Clara; et al. "Polymorphic variations influencing fetal hemoglobin levels: association study in beta-thalassemia carriers and in normal individuals of Portuguese origin.". Blood cells, molecules & diseases (2015): http://europepmc.org/abstract/med/25842369. 10.1016/j.bcmd.2015.02.001 Vagace JM; Peças A; Groiss J; Bento C; Ribeiro ML; Gervasini G; Vagace, Jose M.; et al. "Clinical relevance of erythrocyte ferritin in microcytic anemias.". Clinica chimica acta; international journal of clinical chemistry (2015): http://europepmc.org/abstract/med/25562818. 10.1016/j.cca.2014.12.035 Tamura S; Tamura T; Gima H; Nishikawa A; Okamoto Y; Kanazawa N; Relvas L; et al. "A Japanese Family with Congenital Erythrocytosis Caused by Haemoglobin Bethesda.". Internal medicine (Tokyo, Japan) (2015): http://europepmc.org/abstract/med/26370867. 10.2169/internalmedicine.54.4520 Toste, Sandra; Relvas, Luís; Pinto, Catarina; Bento, Celeste; Abade, Augusto; Ribeiro, M Letícia; Manco, Licínio; et al. "Intragenic haplotype analysis of common HFE mutations in the Portuguese population". Journal of genetics (2015): http://hdl.handle.net/10316/45909. 10.1007/s12041-015-0510-4 Petousi N; Copley RR; Lappin TR; Haggan SE; Bento CM; Cario H; Percy MJ; et al. "Erythrocytosis associated with a novel missense mutation in the BPGM gene.". Haematologica (2014): http://europepmc.org/abstract/med/25015942. 10.3324/haematol.2014.109306 Gross M; Ben-Califa N; McMullin MF; Percy MJ; Bento C; Cario H; Minkov M; Neumann D. "Polycythaemia-inducing mutations in the erythropoietin receptor (EPOR): mechanism and function as elucidated by epidermal growth factor receptor-EPOR chimeras.". British journal of haematology (2014): http://europepmc.org/abstract/med/24533580. 10.1111/bjh.12782 Bento C; Percy MJ; Gardie B; Maia TM; van Wijk R; Perrotta S; Della Ragione F; et al. "Genetic basis of congenital erythrocytosis: mutation update and online databases.". Human mutation (2014): http://europepmc.org/abstract/med/24115288. 10.1002/humu.22448 Coucelo M; Caetano G; Sevivas T; Almeida Santos S; Fidalgo T; Bento C; Fortuna M; et al. "JAK2V617F allele burden is associated with thrombotic mechanisms activation in polycythemia vera and essential thrombocythemia patients.". International journal of hematology (2014): http://europepmc.org/abstract/med/24277659. 10.1007/s12185-013-1475-9 Gardie B; Percy MJ; Hoogewijs D; Chowdhury R; Bento C; Arsenault PR; Richard S; et al. "The role of PHD2 mutations in the pathogenesis of erythrocytosis.". Hypoxia (Auckland, N.Z.) (2014): http://europepmc.org/abstract/med/27774468. Spinola, Ana Isabel Franco; Guilherme, Raquel Ferreira; Bento, Celeste; Relvas, Luís; Oliveira, Ana Catarina; Neves, José Farela; Ribeiro, Maria Letícia. "Cianose Central Neonatal: nem sempre cardíaca, nem sempre pulmonar". (2014): https://pjp.spp.pt//article/view/3690. 10.25754/pjp.2014.3690 Bento, Celeste; Percy, Melanie J.; Gardie, Betty; Maia, Tabita Magalhães; van Wijk, Richard; Perrotta, Silverio; Della Ragione, Fulvio; et al. "Genetic Basis of Congenital Erythrocytosis: Mutation Update and Online Databases". (2014): http://hdl.handle.net/10316/45644. Cario H; McMullin MF; Bento C; Pospisilova D; Percy MJ; Hussein K; Schwarz J; et al. "Erythrocytosis in children and adolescents-classification, characterization, and consensus recommendations for the diagnostic approach.". Pediatric blood & cancer (2013): http://europepmc.org/abstract/med/23776154. 10.1002/pbc.24625 Bento C; Almeida H; Fernandez-Lago C; Ribeiro ML. "Primary familial congenital erythrocytosis: two novel EPOR mutations found in Spain.". International journal of laboratory hematology (2013): http://europepmc.org/abstract/med/23521759. 10.1111/ijlh.12061 Bento C; Almeida H; Maia TM; Relvas L; Oliveira AC; Rossi C; Girodon F; et al. "Molecular study of congenital erythrocytosis in 70 unrelated patients revealed a potential causal mutation in less than half of the cases (Where is/are the missing gene(s)?).". European journal of haematology (2013): http://europepmc.org/abstract/med/23859443. 10.1111/ejh.12170 Bento C; Magalhães Maia T; Carvalhais I; Moita F; Abreu G; Relvas L; Pereira A; et al. "Transient neonatal cyanosis associated with a new Hb F variant: Hb F viseu.". Journal of pediatric hematology/oncology 35 2 (2013): http://europepmc.org/abstract/med/22935660. 10.1097/mph.0b013e3182667be3 Bento C; Maia TM; Milosevic JD; Carreira IM; Kralovics R; Ribeiro ML. "ß Thalassemia major due to acquired uniparental disomy in a previously healthy adolescent.". Haematologica (2013): http://europepmc.org/abstract/med/22875618. 10.3324/haematol.2012.064097 Cunha E; Bento C; Oliveira A; Relvas L; Neves J; Gameiro M; Barros C; et al. "Hb Plasencia [a125(H8)Leu¿Arg (a2)] is a frequent cause of a+-thalassemia in the Portuguese population.". Hemoglobin (2013): http://europepmc.org/abstract/med/23368878. 10.3109/03630269.2013.763822 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 (2013): http://europepmc.org/abstract/med/23431002. 10.1093/gbe/evt029 Millimono TS; Loua KM; Rath SL; Relvas L; Bento C; Diakite M; Jarvis M; et al. "High prevalence of hemoglobin disorders and glucose-6-phosphate dehydrogenase (G6PD) deficiency in the Republic of Guinea (West Africa).". Hemoglobin (2012): http://europepmc.org/abstract/med/21929367. 10.3109/03630269.2011.600491 Bento C; Oliveira AC; Neves J; Gameiro M; Cunha E; Coucelo M; Costa RM; et al. "Hb Iberia [a104(G11)Cys ¿ Arg,TGC>CGC (a2) (HBA2:c.313T>C)], a new a-thalassemic hemoglobin variant found in the Iberian Peninsula: report of six cases.". Hemoglobin (2012): http://europepmc.org/abstract/med/23181747. 10.3109/03630269.2012.742911 Catré D; Lopes MF; Bento C; Cabrita AS; Catré,Dora; Lopes,Maria Francelina; Bento,Celeste; Cabrita,António Silvério. "Protective perioperative strategy using a third generation hydroxyethyl starch during surgery in a murine model of liver reperfusion injury.". Acta cirurgica brasileira (2011): http://europepmc.org/abstract/med/22042108. 10.1590/s0102-86502011000600009 Manco L; Pereira J; Relvas L; Rebelo U; Crisóstomo AI; Bento C; Ribeiro ML. "Chronic hemolytic anemia is associated with a new glucose-6-phosphate dehydrogenase in-frame deletion in an older woman.". Blood cells, molecules & diseases (2011): http://europepmc.org/abstract/med/21397531. 10.1016/j.bcmd.2011.02.001 Catré, D.; Lopes, M.F.; Bento, C.; Cabrita, A.S.. "Protective perioperative strategy using a third generation hydroxyethyl starch during surgery in a murine model of liver reperfusion injury,Estratégia protetora perioperatória usando um hidroxietilamido de terceira geração para expansão volêmica durante a cirurgia em modelo murino de lesão de reperfusão hepática". Acta Cirurgica Brasileira 26 6 (2011): 456-462. http://www.scopus.com/inward/record.url?eid=2-s2.0-82355182903&partnerID=MN8TOARS. 10.1590/S0102-86502011000600009 Constanço, C.; Rocha, P.; Bento, C.; Silva, H.M.. "Heterozygous? Thalassemia with Triplication of the? Globin Gene,Talassemia B heterozigotica com triplicação do gene a globínico". Acta Medica Portuguesa 24 4 (2011): 633-636. http://www.scopus.com/inward/record.url?eid=2-s2.0-84856003530&partnerID=MN8TOARS. Constanço, Ma Conceição; Rocha, Paula; Bento, Celeste; Silva, Helena M; Constanço MC; Rocha P; Bento C; Silva HM. "Heterozygous ß thalassemia with triplication of the a globin gene.". Acta medica portuguesa (2011): https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/476. 10.20344/amp.476 Manco L; Vagace JM; Relvas L; Rebelo U; Bento C; Villegas A; Letícia Ribeiro M. "Chronic haemolytic anaemia because of pyruvate kinase (PK) deficiency in a child heterozygous for haemoglobin S and no clinical features of sickle cell disease.". European journal of haematology (2010): http://europepmc.org/abstract/med/19758413. 10.1111/j.1600-0609.2009.01353.x Coutinho R; Bento C; Almeida H; Cunha E; Manco L; Ferreira F; Ribeiro ML. "Complex inheritance of chronic haemolytic anaemia.". British journal of haematology (2009): http://europepmc.org/abstract/med/19036089. 10.1111/j.1365-2141.2008.07479.x Relvas, L.; Claro, M.T.; Bento, M.C.; Ribeiro, M.L.. "Novel human pathological mutations. Gene symbol: SLC40A1. Disease: haemochromatosis, type 4.". Human genetics 125 3 (2009): 338-338. http://www.scopus.com/inward/record.url?eid=2-s2.0-64249083699&partnerID=MN8TOARS. Coutinho, Ana; Sousa, Inês; Martins, Madalena; Correia, Catarina; Morgadinho, Teresa; Bento, Celeste; Marques, Carla; et al. "Evidence for epistasis between SLC6A4 and ITGB3 in autism etiology and in the determination of platelet serotonin levels". Human genetics (2007): http://hdl.handle.net/10316/8477. 10.1007/s00439-006-0301-3 Coutinho, Ana M.; Oliveira, Guiomar; Katz, Cécile; Feng, Jinong; Yan, Jin; Yang, Chunmei; Marques, Carla; et al. "MECP2 coding sequence and 3'UTR variation in 172 unrelated autistic patients". American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics (2007): http://hdl.handle.net/1822/67669. 10.1002/ajmg.b.30490 Bento C; Relvas L; Vazão H; Campos J; Rebelo U; Ribeiro ML; Bento, C.; et al. "The use of capillary blood samples in a large scale screening approach for the detection of beta-thalassemia and hemoglobin variants.". Haematologica 91 11 (2006): 1565-1565. http://europepmc.org/abstract/med/17082015. Vazão, H.; Bento, C.; Ribeiro, L.; Vazão H; Bento C; Ribeiro L. "Gene symbol: HBA1. Disease: Haemoglobin alpha 1.". Human genetics 117 2-3 (2005): 296-296. http://www.scopus.com/inward/record.url?eid=2-s2.0-26944476012&partnerID=MN8TOARS. Bento, M.C.; Chang, K.-T.; Guan, Y.; Liu, E.; Caldas, G.; Gatti, R.A.; Prchal, J.T.. "Congenital polycythemia with homozygous and heterozygous mutations of von Hippel-Lindau gene: Five new Caucasian patients". Haematologica 90 1 (2005): 128-129. http://www.scopus.com/inward/record.url?eid=2-s2.0-13244272302&partnerID=MN8TOARS. Manco, L.; Pereira, J.; Bento, M.C.; Ribeiro, M.L.. "Gene symbol: NT5C3. Disease: haemolytic anemia.". Human genetics 118 3-4 (2005): 534-534. http://www.scopus.com/inward/record.url?eid=2-s2.0-33644957107&partnerID=MN8TOARS. Coutinho AM; Oliveira G; Morgadinho T; Fesel C; Macedo TR; Bento C; Marques C; et al. "Variants of the serotonin transporter gene (SLC6A4) significantly contribute to hyperserotonemia in autism.". Molecular Psychiatry (2004): http://europepmc.org/abstract/med/15094787. 10.1038/sj.mp.4001409 Silva, S.C.; Correia, C.; Fesel, C.; Barreto, M.; Coutinho, A.M.; Marques, C.; Miguel, T.S.; et al. "Autoantibody repertoires to brain tissue in autism nuclear families". Journal of Neuroimmunology 152 1-2 (2004): 176-182. http://www.scopus.com/inward/record.url?eid=2-s2.0-3042615494&partnerID=MN8TOARS. 10.1016/j.jneuroim.2004.03.015 Bento, M.C.; Ribeiro, M.L.; Relvas, L.. "Gene symbol: HFE. Disease: Haemochromatosis.". Human genetics 114 4 (2004): 405-405. http://www.scopus.com/inward/record.url?eid=2-s2.0-2142657297&partnerID=MN8TOARS. Manco L; Bento C; Ribeiro ML; Tamagnini G. "Consequences at mRNA level of the PKLR gene splicing mutations IVS10(+1)G-->C and IVS8(+2)T-->G causing pyruvate kinase deficiency.". British journal of haematology (2002): http://europepmc.org/abstract/med/12181074. 10.1046/j.0007-1048.2002.03665.x Manco, L.; Bento, C.; Ribeiro, M.L.; Tamagnini, G.. "Consequences at mRNa level of the PKLR gene splicing mutations IVS10(+1)G ¿ C and IVS8(+2)T ¿ G causing pyruvate kinase deficiency [7]". British Journal of Haematology 118 3 (2002): 927-928. http://www.scopus.com/inward/record.url?eid=2-s2.0-0036037287&partnerID=MN8TOARS. Bento, M.C.; Ribeiro, M.L.; Cunha, E.; Rebelo, U.; Granjo, E.; Granado, C.; Tamagnini, G.P.. "Hb Vila Real [ß36(C2)Pro¿His]: A newly discovered high oxygen affinity variant". Hemoglobin 24 1 (2000): 59-63. http://www.scopus.com/inward/record.url?eid=2-s2.0-0034010662&partnerID=MN8TOARS. 10.3109/03630260009002275 Bento, M.C.; Ribeiro, M.L.; Cunha, E.; Goncalves, P.; Martin-Nunez, G.; Tamagnini, G.. "ß-thalassemia intermedia resulting from compound heterozygosity for an IVSI-1 (G-A) and a silent 5'UTR +33 (C-G) mutation". Haematologica 85 4 (2000): 443-441. http://www.scopus.com/inward/record.url?eid=2-s2.0-0034170499&partnerID=MN8TOARS. Bento, C.; Almeida, H.; Pereira, J.; Martin Núñez, G.; Tamagnini, G.P.; Ribeiro ML; Gonçalves P; et al. "Genetic heterogeneity of ß-thalassemia in populations of the Iberian Peninsula". Hemoglobin 21 3 (1997): 261-269. http://www.scopus.com/inward/record.url?eid=2-s2.0-8244250127&partnerID=MN8TOARS. 10.3109/03630269708997387
Thesis / Dissertation	Lopes, Andreia Sofia dos Santos. "Genetic basis of congenital Erythrocytosis: search for new mutations and associated genes and update of online databases". Master, 2017. http://hdl.handle.net/10773/22704. Gameiro, Mariline da Silva. "Caraterização molecular e funcional de variantes alfa de hemoglobina identificadas no Centro Hospitalar e Universitário de Coimbra". Master, 2012. http://hdl.handle.net/10316/25415.

Other

Other output

ITHANET: Information and database community portal for haemoglobinopathies. 2017. Petros Kountouris; Coralea Stephanou; Celeste Bento; Pavlos Fanis; Jacques Elion; Raj S Ramesar; Bin Alwi Zilfalil; et al. https://doi.org/10.1101/209361.
10.1101/209361

Activities

Oral presentation

	Presentation title	Event name Host (Event location)
2020	Impacto del Diagnóstico Molecular en Hematología: Serie Roja LXII Congreso Nacional de la SEHH Y XXXVI Congreso Nacional de la SETH, Virtual, 2020	LXII Congreso Nacional de la SEHH Y XXXVI Congreso Nacional de la SETH (Pamplona, Spain)
2019	Novel Insights in the Molecular Characterization of Congenital Erythrocytosis Belgrado, Sérvia, Maio, 2019	14th Meeting of the MPN&MPNr-EuroNet (Belgrado)
2019	Hemoglobinopathies update – Portugal	Conference on Global Globin 2020 Challenge Unesco (Paris, France)
2019	Variant Scoring Based on ClinGen Tools and Haemoglobinopathy-specific Criteria	Conference on Global Globin 2020 Challenge Unesco (Paris, France)
2019	Towards harmonization of Diagnosis of PK deficiency in EU - Portugal	2nd PKD Diagnostics Advisory Board Meeting for PK deficiency (Paris, France)
2019	A mais-valia da Next Generation Sequencing (NGS) no diagnóstico de doenças hematológicas congénitas: Anemias congénitas.	Reunião Genes, populações e doenças: Contributo da sequenciação de nova geração para o diagnóstico molecular. CIAS,
2018	Congenital Erythrocytosis	XXXIst International Symposium on Technological Innovations in Laboratory Hematology (Bruxelas, Belgium)
2018	Eritrocitosis congénitas. Clasificación y diagnóstico	Advances en Hematologia – Formación Continuada (Madrid, Spain)
2017	Diagnosis of congenital hemolytic anemia in the era of NGS	10th Conference of African Society of Human Genetics (Cairo, Egypt)
2017	Newborn Screening Sickle Cell Disorders: Portugal	Pan-European Consensus Conference on NBS for Haemoglobinopathies (Berlim, Germany)
2016	Congenital hemolytic anemia study with a targeted NGS panel Clinical Interpretation of Variants from NGS: The 2016 Scientific Meeting of the Human Genome Variation Society Barcelona, Espanha, 2016	Clinical Interpretation of Variants from NGS: The 2016 Scientific Meeting of the Human Genome Variation Society Human Genome Variation Society (Barcelona, Spain)
2015	NGS: new mutations and genes Zagreb, Croácia, 2015	MPN&MPNr-EuroNet Tenth Meeting MPN&MPNr-EuroNet (Croacia)

Event organisation

	Event name Type of event (Role)	Institution / Organization
2019 - Current	Dia D da Drepanocitose (2019) Conference (President of the Organising Committee)	Associaçao Portuguesa de Pais e Doentes com Hemoglobinopatias, Portugal
2014 - Current	Training School on Congenital Erythrocytosis MPN&MPNr-EuroNet Barcelona, Espanha, 2014 (2014) Conference	MPN&MPNr-EuroNet , France
2013 - Current	Mesa Redonda: Human Variome Project/UNESCO (2013) Round table (President of the Organising Committee)	Sociedade Portuguesa de Genética Humana, Portugal

Jury of academic degree

	Topic Role	Candidate name (Type of degree) Institution / Organization
2020	Assessing the role of genetic variations at the ß–globin gene cluster in levels of fetal hemoglobin (Thesis) Main arguer	Catarina Rocha Pacheco (Master) Universidade do Porto, Portugal
2017	Bases genéticas da Eritrocitose Congénita (Thesis) Main arguer	Andreia Sofia dos Santos Lopes (Master) Universidade de Aveiro, Portugal
2013	Caracterização molecular de anemias hipocrómicas e microcíticas com hemoglobina A2 normal Supervisor	Ana Catarina Oliveira (Master) Instituto Politécnico de Coimbra Escola Superior de Tecnologia da Saúde de Coimbra, Portugal
2012	Caraterização molecular e funcional de variantes alfa de hemoglobina identificadas no Centro Hospitalar e Universitário de Coimbra Supervisor	Mariline da Silva Gameiro (Master) Universidade de Coimbra, Portugal

Association member

	Society Organization name	Role
2017 - Current	Human Variome Project - Global Globin 2020	Fundador e membro da direcção
2012 - Current	Associação Portuguesa de Pais e Doentes com Hemoglobinopatias (APPDH)
2012 - Current	MPN&MPNr – Euronet	Representante nacional e Co-Chair de WG
2010 - Current	Centro Investigação e Formação Clínica do Hospital Pediátrico de Coimbra	Fundador e membro da direcção
1995 - Current	Sociedade Portuguesa de Genética Humana	Sócio fundador

Course / Discipline taught

	Academic session	Degree Subject (Type)	Institution / Organization
2021 - Current	Avaliação das alterações do glóbulo vermelho	Mestrado em Análises Clínicas	Universidade de Coimbra Faculdade de Farmácia, Portugal
2019 - Current	Technical basis and principle of Sanger sequencing	4th Course Basics in Human Genetic Diagnostics – A course for CLGs in education	European Society of Human Genetics , France
2018 - Current	From genotype to phenotype - Nomenclature in molecular biology	Programa de doutoramento em Ciências da Saúde	Universidade de Coimbra Faculdade de Medicina, Portugal
2018 - Current	Seminário Nomenclatura em Biologia Molecular	Curso teórico-prático em Citogenética e Genómica	Universidade de Coimbra Faculdade de Medicina, Portugal

Other jury / evaluation

	Activity description	Institution / Organization
2015 - Current	Revisor da French National Research Agency (Agence Nationale de la Recherche (ANR)), Paris, França	Agence Nationale de la Recherche (ANR), France