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Ana Berta Sousa graduated in Medicine from Faculdade de Ciências Médicas da Universidade Nova de Lisboa in 1995. In 2000, she completed a PhD in Genetics at the Mathematisch-Naturwissenschaftliche Fakultät der Universität zu Köln. She trained in Medical Genetics at Hospital Santa Maria (CHULN), where she has been a Consultant in Clinical Genetics since 2008, and was appointed head of department in 2013. She is also a Clinical Geneticist at Hospital da Luz (from 2010). She has been an Invited Assistant Professor at Faculdade de Medicina da Universidade de Lisboa since 2003, mainly in the Laboratory of Basic Immunology, and as coordinator of the Familial Cancer Risk Module of the MSc in Oncobiology.
Identificação

Identificação pessoal

Nome completo
Ana Berta Fonseca Vieira Álvares Sousa Ferrand Almeida

Nomes de citação

  • Ana Berta Sousa

Identificadores de autor

Ciência ID
031D-CFAD-116A
ORCID iD
0000-0001-5889-2492

Endereços de correio eletrónico

  • anaalmeida@chln.min-saude.pt (Profissional)
  • absousa@hospitaldaluz.pt (Profissional)

Telefones

Telefone
  • 217805340 (Profissional)

Moradas

  • Serviço Genética / HSM/CHULN, Piso 1 / Av. Prof. Egas Moniz, 1649-035, Lisboa, Lisboa, Portugal (Profissional)
  • Consulta Genética / Hospital Luz Lisboa / Av. Lusíada, 100, 1500-650, Lisboa, Lisboa, Portugal (Profissional)

Domínios de atuação

  • Ciências Médicas e da Saúde - Biotecnologia Médica - Diagnóstico e Terapias de Base Genética
  • Ciências Médicas e da Saúde - Medicina Básica - Genética Humana
  • Ciências Médicas e da Saúde - Medicina Básica - Imunologia
  • Ciências Médicas e da Saúde - Medicina Clínica - Outras Áreas da Medicina Clínica

Idiomas

Idioma Conversação Leitura Escrita Compreensão Peer-review
Português (Idioma materno)
Inglês Utilizador proficiente (C1) Utilizador proficiente (C1) Utilizador proficiente (C1) Utilizador proficiente (C1) Utilizador proficiente (C1)
Francês Utilizador independente (B2) Utilizador proficiente (C1) Utilizador independente (B2) Utilizador proficiente (C1) Utilizador independente (B2)
Alemão Utilizador elementar (A1) Utilizador elementar (A2) Utilizador elementar (A1) Utilizador elementar (A2) Utilizador elementar (A2)
Formação
Grau Classificação
2000/12/20
Concluído
Doktorin der Naturwissenschaften (Doktor (PhD))
Universität zu Köln - Institut für Genetik, Alemanha
"The Gene Conversion Hypothesis of MHC Evolution: Studies on the Detection of Rare Segmental Exchange Variants in the Laboratory Mouse" (TESE/DISSERTAÇÃO)
1989 - 1995
Concluído
Licenciatura em Medicina (Licenciatura)
Universidade Nova de Lisboa Faculdade de Ciências Médicas, Portugal
Percurso profissional

Docência no Ensino Superior

Categoria Profissional
Instituição de acolhimento
Empregador
2003 - Atual Professor Auxiliar Convidado (Docente Universitário) Universidade de Lisboa Faculdade de Medicina, Portugal

Outras Carreiras

Categoria Profissional
Instituição de acolhimento
Empregador
2008 - Atual Assistente (Médica) Hospital de Santa Maria, Portugal
2003/01/01 - 2008/07 Interno (Médica) Hospital de Santa Maria, Portugal
2001/01/01 - 2002/12/31 Interno (Médica) Hospital de São Francisco Xavier, Lisboa, Portugal

Cargos e Funções

Categoria Profissional
Instituição de acolhimento
Empregador
2013/08/01 - Atual Director de Unidade Orgânica Centro Hospitalar Universitário Lisboa Norte EPE, Portugal
Centro Hospitalar Universitário Lisboa Norte EPE - Serviço de Genética, Portugal
Produções

Publicações

Artigo em revista
  1. Paneque M; Carvalho M; Rodrigues F; Saraiva J; Leonardo A; Sousa AB; Machado V; et al. "A new scale informed by the Reciprocal-Engagement Model for quality evaluation of genetic counselling by patients: Development and initial validation.". European journal of medical genetics (2021): http://europepmc.org/abstract/med/34740860.
    10.1016/j.ejmg.2021.104375
  2. Frede N; Rojas-Restrepo J; Caballero Garcia de Oteyza A; Buchta M; Hübscher K; Gámez-Díaz L; Proietti M; et al. "Genetic Analysis of a Cohort of 275 Patients with Hyper-IgE Syndromes and/or Chronic Mucocutaneous Candidiasis.". Journal of clinical immunology (2021): http://europepmc.org/abstract/med/34390440.
    10.1007/s10875-021-01086-4
  3. Polla DL; Edmondson AC; Duvet S; March ME; Sousa AB; Lehman A; CAUSES Study; et al. "Bi-allelic variants in the ER quality-control mannosidase gene EDEM3 cause a congenital disorder of glycosylation.". American journal of human genetics (2021): http://europepmc.org/abstract/med/34143952.
    10.1016/j.ajhg.2021.05.010
  4. Sangermano R; Deitch I; Peter VG; Ba-Abbad R; Place EM; Zampaglione E; Wagner NE; et al. "Broadening INPP5E phenotypic spectrum: detection of rare variants in syndromic and non-syndromic IRD.". NPJ genomic medicine (2021): http://europepmc.org/abstract/med/34188062.
    10.1038/s41525-021-00214-8
  5. Lamounier Junior A; Guitián González A; Rodríguez Vilela A; Repáraz Andrade A; Rubio Alcaide Á; Berta Sousa A; Benito López C; Alonso García D; Monserrat Iglesias L. "Genotype-phenotype correlations in hypertrophic cardiomyopathy: a multicenter study in Portugal and Spain of the TPM1 p.Arg21Leu variant.". Revista espanola de cardiologia (English ed.) (2021): http://europepmc.org/abstract/med/33642254.
    10.1016/j.rec.2021.01.001
  6. Dupont J; Vieira JP; Tavares ALT; Conceição CR; Khan S; Bertoli-Avella AM; Sousa AB. "Adding evidence to the role of NEUROG1 in congenital cranial dysinnervation disorders.". Clinical genetics (2021): http://europepmc.org/abstract/med/33439489.
    10.1111/cge.13922
  7. Quinodoz M; Peter VG; Bedoni N; Royer Bertrand B; Cisarova K; Salmaninejad A; Sepahi N; et al. "AutoMap is a high performance homozygosity mapping tool using next-generation sequencing data.". Nature communications (2021): http://europepmc.org/abstract/med/33483490.
    10.1038/s41467-020-20584-4
  8. Peter VG; Quinodoz M; Sadio S; Held S; Rodrigues M; Soares M; Sousa AB; et al. "New clinical and molecular evidence linking mutations in ARSG to Usher syndrome type IV.". Human mutation (2020): http://europepmc.org/abstract/med/33300174.
    10.1002/humu.24150
  9. Legrand A; Pujol C; Durand CM; Mesnil A; Rubera I; Duranton C; Zuily S; et al. "Pseudoxanthoma Elasticum overlaps Hereditary Spastic Paraplegia Type 56.". Journal of internal medicine (2020): http://europepmc.org/abstract/med/33107650.
    10.1111/joim.13193
  10. Escudeiro C; Pinto C; Vieira J; Peixoto A; Pinto P; Pinheiro M; Santos C; et al. "The role of TP53 pathogenic variants in early-onset HER2-positive breast cancer.". Familial cancer (2020): http://europepmc.org/abstract/med/33051812.
    10.1007/s10689-020-00212-2
  11. Travessa AM; Díaz-González F; Mirco T; Oliveira-Ramos F; Parrón-Pajares M; Heath KE; Sousa AB. "Spondyloepiphyseal dysplasia type Stanescu: Expanding the clinical and molecular spectrum of a very rare type II collagenopathy.". American journal of medical genetics. Part A (2020): http://europepmc.org/abstract/med/32856782.
    10.1002/ajmg.a.61817
  12. Travessa AM; Santo S; Luís R; Carvalho Afonso M; Carvalho R; Vitorino E; Sousa AB. "A fetus with an immature umbilical cord teratoma associated with exomphalos: case report and review of the literature.". Romanian journal of morphology and embryology = Revue roumaine de morphologie et embryologie (2020): http://europepmc.org/abstract/med/33817740.
    10.47162/rjme.61.3.37
  13. Martins R; Moldovan O; Sousa AB; Levy A; Quintas S. "[Epileptic Encephalopathies of Childhood: The New Paradigm of Genetic Diagnosis].". Acta medica portuguesa (2020): http://europepmc.org/abstract/med/32504517.
    10.20344/amp.12550
  14. Almeida, Ana. "VRK1 variants in two Portuguese unrelated patients with childhood-onset motor neuron disease.". Amyotrophic lateral sclerosis & frontotemporal degeneration (2020): https://doi.org/10.1080/21678421.2020.1746343.
    10.1080/21678421.2020.1746343
  15. Almeida, Ana. "Correction: GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder.". Genetics in medicine : official journal of the American College of Medical Genetics (2020): https://doi.org/10.1038/s41436-020-0760-2.
    10.1038/s41436-020-0760-2
  16. Lipari Pinto P; Machado C; Janeiro P; Dupont J; Quintas S; Sousa AB; Gaspar A. "NGLY1 deficiency-A rare congenital disorder of deglycosylation.". JIMD reports (2020): http://europepmc.org/abstract/med/32395402.
    10.1002/jmd2.12108
  17. Almeida, Ana. "Upper limb phocomelia: A prenatal case of thrombocytopenia-absent radius (TAR) syndrome illustrating the importance of chromosomal microarray in limb reduction defects.". Taiwanese journal of obstetrics & gynecology (2020): https://doi.org/10.1016/j.tjog.2020.01.024.
    10.1016/j.tjog.2020.01.024
  18. Almeida, Ana. "GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder.". Genetics in medicine : official journal of the American College of Medical Genetics (2020): https://doi.org/10.1038/s41436-019-0747-z.
    10.1038/s41436-019-0747-z
  19. Almeida, Ana. "Monozygotic Twins Concordant for Common Variable Immunodeficiency: Strikingly Similar Clinical and Immune Profile Associated With a Polygenic Burden.". Frontiers in immunology (2019): https://europepmc.org/articles/PMC6882918.
    10.3389/fimmu.2019.02503
  20. Travessa, A.; Dias, P.; Rocha, P.; Sousa, A.B.. "Prenatal diagnosis of holoprosencephaly associated with Smith–Lemli–Opitz syndrome (SLOS) in a 46,XX fetus". Taiwanese Journal of Obstetrics and Gynecology 56 4 (2017): 541-544. http://www.scopus.com/inward/record.url?eid=2-s2.0-85023742502&partnerID=MN8TOARS.
    10.1016/j.tjog.2017.01.012
  21. Duarte, C.; Farinha, R.R.; Santos, A.R.; Dias, P.; Sousa, A.B.; Pereira, A.M.. "Description of a child with a 6q14.1-q16.1 interstitial deletion: A very rare entity with airway manifestations". International Journal of Pediatric Otorhinolaryngology 84 (2016): 147-150. http://www.scopus.com/inward/record.url?eid=2-s2.0-84961797467&partnerID=MN8TOARS.
    10.1016/j.ijporl.2016.02.009
  22. Soeiro e Sá, M.; Moldovan, O.; Sousa, A.B.. "Macrodactyly in tuberous sclerosis complex: Case report and review of the literature". American Journal of Medical Genetics, Part A 170 7 (2016): 1903-1907. http://www.scopus.com/inward/record.url?eid=2-s2.0-84973162115&partnerID=MN8TOARS.
    10.1002/ajmg.a.37675
  23. Piard, J.; Aral, B.; Vabres, P.; Holder-Espinasse, M.; Mégarbané, A.; Gauthier, S.; Capra, V.; et al. "Search for ReCQL4 mutations in 39 patients genotyped for suspected Rothmund-Thomson/Baller-Gerold syndromes". Clinical Genetics 87 3 (2015): 244-251. http://www.scopus.com/inward/record.url?eid=2-s2.0-84922759785&partnerID=MN8TOARS.
    10.1111/cge.12361
  24. Lourenço, R.; Dias, P.; Gouveia, R.; Sousa, A.B.; Oliveira, G.. "Neonatal McCune-Albright syndrome with systemic involvement: A case report". Journal of Medical Case Reports 9 1 (2015): http://www.scopus.com/inward/record.url?eid=2-s2.0-84941009830&partnerID=MN8TOARS.
    10.1186/s13256-015-0689-2
  25. Alvelos, M.I.; Rodrigues, M.; Lobo, L.; Medeira, A.; Sousa, A.B.; Simão, C.; Lemos, M.C.. "A novel mutation of the HNF1B gene associated with hypoplastic glomerulocystic kidney disease and neonatal renal failure". Medicine (United States) 94 7 (2015): http://www.scopus.com/inward/record.url?eid=2-s2.0-84928414011&partnerID=MN8TOARS.
    10.1097/MD.0000000000000469
  26. Justino, A.; Dias, P.; João Pina, M.; Sousa, S.; Cirnes, L.; Berta Sousa, A.; Carlos Machado, J.; Costa, J.L.. "Comprehensive massive parallel DNA sequencing strategy for the genetic diagnosis of the neuro-cardio-facio-cutaneous syndromes". European Journal of Human Genetics 23 3 (2015): 347-353. http://www.scopus.com/inward/record.url?eid=2-s2.0-84938422130&partnerID=MN8TOARS.
    10.1038/ejhg.2014.97
  27. Almeida, Ana. "Unraveling the pathogenesis of ARX polyalanine tract variants using a clinical and molecular interfacing approach". Mol Genet Genomic Med (2015):
    10.1002/mgg3.133
  28. Syx, D.; Guillemyn, B.; Symoens, S.; Sousa, A.B.; Medeira, A.; Whiteford, M.; Hermanns-Lê, T.; et al. "Defective Proteolytic Processing of Fibrillar Procollagens and Prodecorin Due to Biallelic BMP1 Mutations Results in a Severe, Progressive Form of Osteogenesis Imperfecta". Journal of Bone and Mineral Research 30 8 (2015): 1445-1456. http://www.scopus.com/inward/record.url?eid=2-s2.0-84937161587&partnerID=MN8TOARS.
    10.1002/jbmr.2473
  29. Esposito, G.; De Falco, F.; Neri, I.; Graziano, C.; Toschi, B.; Auricchio, L.; Gouveia, C.; Sousa, A.B.; Salvatore, F.. "Different TGM1 mutation spectra in Italian and Portuguese patients with autosomal recessive congenital ichthyosis: Evidence of founder effects in Portugal". British Journal of Dermatology 168 6 (2013): 1364-1367. http://www.scopus.com/inward/record.url?eid=2-s2.0-84878645760&partnerID=MN8TOARS.
    10.1111/bjd.12179
  30. Barbosa, M.; Sousa, A.; Medeira, A.; Lourenço, T.; Saraiva, J.; Pinto-Basto, J.; Soares, G.; et al. "Clinical and molecular characterization of Diastrophic Dysplasia in the Portuguese population". Clinical Genetics 80 6 (2011): 550-557. http://www.scopus.com/inward/record.url?eid=2-s2.0-80054934970&partnerID=MN8TOARS.
    10.1111/j.1399-0004.2010.01595.x
  31. Gripp, K.W.; Hopkins, E.; Sol-Church, K.; Stabley, D.L.; Axelrad, M.E.; Doyle, D.; Dobyns, W.B.; et al. "Phenotypic analysis of individuals with Costello syndrome due to HRAS p.G13C". American Journal of Medical Genetics, Part A 155 4 (2011): 706-716. http://www.scopus.com/inward/record.url?eid=2-s2.0-79953295126&partnerID=MN8TOARS.
    10.1002/ajmg.a.33884
  32. Agarwal, A.K.; Xing, C.; Demartino, G.N.; Mizrachi, D.; Hernandez, M.D.; Sousa, A.B.; Martínez De Villarreal, L.; Dos Santos, H.G.; Garg, A.. "PSMB8 encoding the ß5i proteasome subunit is mutated in joint contractures, muscle atrophy, microcytic anemia, and panniculitis-induced lipodystrophy syndrome". American Journal of Human Genetics 87 6 (2010): 866-872. http://www.scopus.com/inward/record.url?eid=2-s2.0-78649775528&partnerID=MN8TOARS.
    10.1016/j.ajhg.2010.10.031
  33. Garg, A.; Hernandez, M.D.; Sousa, A.B.; Subramanyam, L.; De Villarreal, L.M.; Dos Santos, H.G.; Barboza, O.. "An autosomal recessive syndrome of joint contractures, muscular atrophy, microcytic anemia, and panniculitis-associated lipodystrophy". Journal of Clinical Endocrinology and Metabolism 95 9 (2010): http://www.scopus.com/inward/record.url?eid=2-s2.0-77956579857&partnerID=MN8TOARS.
    10.1210/jc.2010-0488
  34. Almeida, M.R.; Campos-Xavier, A.B.; Medeira, A.; Cordeiro, I.; Sousa, A.B.; Lima, M.; Soares, G.; et al. "Clinical and Molecular diagnosis of the skeletal dysplasias associated with mutations in the gene encoding Fibroblast Growth Factor Receptor 3 (FGFR3) in Portugal". Clinical Genetics 75 2 (2009): 150-156. http://www.scopus.com/inward/record.url?eid=2-s2.0-58849084644&partnerID=MN8TOARS.
    10.1111/j.1399-0004.2008.01123.x
  35. Sousa, A.B.; Medeira, A.; Kamath, B.M.; Spinner, N.B.; Cordeiro, I.. "Familial stenosis of the pulmonary artery branches with a JAG1 mutation | Estenose familiar dos ramos da artéria pulmonar com mutaçäo em JAG1". Revista Portuguesa de Cardiologia 25 4 (2006): 447-452. http://www.scopus.com/inward/record.url?eid=2-s2.0-33745650495&partnerID=MN8TOARS.
  36. Küppers R; Sousa AB; Baur AS; Strickler JG; Rajewsky K; Hansmann ML; Küppers, R.; et al. "Common germinal-center B-cell origin of the malignant cells in two composite lymphomas, involving classical Hodgkin's disease and either follicular lymphoma or B-CLL.". Molecular medicine (Cambridge, Mass.) 7 5 (2001): 285-292. http://europepmc.org/abstract/med/11474574.
    10.1007/bf03402211
  37. Martinsohn JT; Sousa AB; Guethlein LA; Howard JC; Martinsohn, J.Th.; Sousa, A.B.; Guethlein, L.A.; Howard, J.C.. "The gene conversion hypothesis of MHC evolution: a review.". Immunogenetics 50 3-4 (1999): 168-200. http://europepmc.org/abstract/med/10602879.
    10.1007/s002510050593

Outros

Outra produção
  1. Early onset non-syndromic retinal degeneration due to variants in INPP5E: phenotypic expansion of the ciliary gene previously associated with Joubert syndrome. 2020. Sangermano R; Deitch I; Peter VG; Ba-Abbad R; Place EM; Wagner NE; Fulton AB; et al. http://europepmc.org/abstract/PPR/PPR206493.
    10.1101/2020.08.24.20179085