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Identificação

Identificação pessoal

Nome completo
Sérgio Abílio Teixeira Bernardo de Sousa

Nomes de citação

  • Sousa, Sérgio

Identificadores de autor

Ciência ID
5C1A-7DC6-BCD2
ORCID iD
0000-0003-3921-1334
Formação
Grau Classificação
2014
Concluído
PhD (Doctor of Philosophy)
Especialização em Child Health
University College London Great Ormond Street Institute of Child Health, Reino Unido
"Clinical and molecular characterisation of rare genetic syndromes with unknown aetiology" (TESE/DISSERTAÇÃO)
2003/01/01 - 2009/02/20
Concluído
Internato Complementar de Genética Médica (Título de especialista)
Centro Hospitalar e Universitario de Coimbra EPE Hospital Pediátrico de Coimbra, Portugal
19.7/20
2008
Concluído
Mestrado em Medicina e Oncologia Molecular (Mestrado)
Universidade do Porto, Portugal
"Doença de Fabry: estudo da frequência das variantes alélicas do gene GLA na população portuguesa" (TESE/DISSERTAÇÃO)
Muito Bom
2001
Concluído
Medicina (Licenciatura)
Universidade de Coimbra Faculdade de Medicina, Portugal
Percurso profissional

Docência no Ensino Superior

Categoria Profissional
Instituição de acolhimento
Empregador
2017 - Atual Professor Auxiliar Convidado (Docente Universitário) Universidade de Coimbra Faculdade de Medicina, Portugal
2014 - 2017 Professor Auxiliar Convidado (Docente Universitário) Universidade da Beira Interior Faculdade de Ciências da Saúde, Portugal

Outras Carreiras

Categoria Profissional
Instituição de acolhimento
Empregador
2021 - Atual Assistente graduado (Médica) Centro Hospitalar e Universitario de Coimbra EPE Hospital Pediátrico de Coimbra, Portugal
2009 - 2021 Assistente (Médica) Centro Hospitalar e Universitario de Coimbra EPE Hospital Pediátrico de Coimbra, Portugal
Produções

Publicações

Artigo em revista
  1. Nmezi B; Guillermo Rodriguez-Bey; Oranburg TD; Dudnyk K; Santana Lardo; Herdman N; Jacko A; et al. "An oligodendrocyte silencer element underlies the pathogenic impact of lamin B1 structural variants.". Nature communications (2025): https://europepmc.org/articles/PMC11799162.
    10.1038/s41467-025-56378-9
  2. Hoover-Fong J; Semler O; Barron B; Collett-Solberg PF; Fung E; Irving M; Kitaoka T; et al. "Considerations for Anthropometry Specific to People with Disproportionate Short Stature.". Advances in therapy (2025): http://europepmc.org/abstract/med/39907899.
    10.1007/s12325-024-03061-y
  3. Karimi K; Weis D; Aukrust I; Hsieh TC; Horackova M; Paulsen J; Roberto Mendoza-Londono; et al. "Epigenomic and phenotypic characterization of DEGCAGS syndrome.". European journal of human genetics : EJHG (2024): https://doi.org/10.1038/s41431-024-01702-y.
    10.1038/s41431-024-01702-y
  4. Sarli C; van der Laan L; Reilly J; Trajkova S; Carli D; Brusco A; Levy MA; et al. "Blepharophimosis with intellectual disability and Helsmoortel-Van Der Aa Syndrome share episignature and phenotype.". American journal of medical genetics. Part C, Seminars in medical genetics (2024): http://europepmc.org/abstract/med/38884529.
    10.1002/ajmg.c.32089
  5. Fredwall S; AlSayed M; Ben-Omran T; Boero S; Cormier-Daire V; Fauroux B; Guillén-Navarro E; et al. "European Achondroplasia Forum Practical Considerations for Following Adults with Achondroplasia.". Advances in therapy (2024): http://europepmc.org/abstract/med/38748332.
    10.1007/s12325-024-02880-3
  6. Oliver Semler; Valérie Cormier-Daire; Ekkehart Lausch; Michael B. Bober; Ricki Carroll; Sérgio B. Sousa; David Deyle; et al. "Vosoritide Therapy in Children with Achondroplasia: Early Experience and Practical Considerations for Clinical Practice". Advances in Therapy (2024): https://doi.org/10.1007/s12325-023-02705-9.
    10.1007/s12325-023-02705-9
  7. Oliveira D; Maia S; Balacó I; Coelho P; Almeida S; Venâncio M; Saraiva J; Nishimura G; Sousa SB. "Pachydysostosis of the fibula in a case of familial adenomatous polyposis.". European journal of medical genetics (2024): http://europepmc.org/abstract/med/38286305.
    10.1016/j.ejmg.2024.104913
  8. Travessa AM; Dias P; Rosmaninho-Salgado J; Aza-Carmona M; Moldovan O; Díaz-González F; Godinho F; et al. "Characterization of three adults and an adolescent with Osteogenesis Imperfecta type VI and a novel founder SERPINF1 variant.". European journal of medical genetics (2023): http://europepmc.org/abstract/med/37839784.
    10.1016/j.ejmg.2023.104867
  9. Rots, Dmitrijs; Jakub, Taryn E; Keung, Crystal; Jackson, Adam; Banka, Siddharth; Pfundt, Rolph; de Vries, Bert B A; et al. "The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder". American journal of human genetics (2023): https://europepmc.org/articles/PMC10257005.
    10.1016/j.ajhg.2023.04.008
  10. Savarirayan, Ravi; Hoernschemeyer, Daniel G; Ljungberg, Merete; Zarate, Yuri A; Bacino, Carlos A; Bober, Michael B; Legare, Janet M; et al. "Once-weekly TransCon CNP (navepegritide) in children with achondroplasia (ACcomplisH): a phase 2, multicentre, randomised, double-blind, placebo-controlled, dose-escalation trial". EClinicalMedicine (2023): https://europepmc.org/articles/PMC10562841.
    10.1016/j.eclinm.2023.102258
  11. Maduro, Ana Isabel; Mendes, Beatriz; Saraiva, André Pinto; Sousa, Marlene; Marques, Marta; B Sousa, Sérgio; Salvador, Maria João; Malcata, Armando; Serra, Sara. "Fibrodysplasia ossificans progressiva: when a double skeleton is present". Clinical rheumatology (2023): https://link.springer.com/content/pdf/10.1007/s10067-023-06712-7.pdf.
    10.1007/s10067-023-06712-7
  12. Awamleh, Zain; Choufani, Sanaa; Cytrynbaum, Cheryl; Alkuraya, Fowzan S; Scherer, Stephen; Fernandes, Sofia; Rosas, Catarina; et al. "ANKRD11 pathogenic variants and 16q24.3 microdeletions share an altered DNA methylation signature in patients with KBG syndrome". Human molecular genetics (2023): https://europepmc.org/articles/PMC10117159.
    10.1093/hmg/ddac289
  13. Sousa, Marlene; Prata, Ana Rita; Maduro, Ana Isabel; Sousa, Sérgio B; Malcata, Armando. "Pycnodysostosis: A rare cause of pathological fractures and exuberant clinical manifestations in two sisters". Joint bone spine (2023): https://doi.org/10.1016/j.jbspin.2023.105547.
    10.1016/j.jbspin.2023.105547
  14. Irving, Melita; AlSayed, Moeenaldeen; Arundel, Paul; Baujat, Geneviève; Ben-Omran, Tawfeg; Boero, Silvio; Cormier-Daire, Valérie; et al. "European Achondroplasia Forum guiding principles for the detection and management of foramen magnum stenosis". Orphanet journal of rare diseases (2023): https://europepmc.org/articles/PMC10375694.
    10.1186/s13023-023-02795-2
  15. Díaz-González, Francisca; Parrón-Pajares, Manuel; Lucas-Castro, Elsa; Modamio-Høybjør, Silvia; Sentchordi-Montané, Lucia; Seidel, Verónica; Prieto, Pablo; et al. "Evolution of clinical and radiological presentations of spondyloepimetaphyseal dysplasia, RPL13-related: Description of 11 further cases". Clinical genetics (2023): https://doi.org/10.1111/cge.14351.
    10.1111/cge.14351
  16. Cormier-Daire, Valerie; AlSayed, Moeenaldeen; Alves, Inês; Bengoa, Joana; Ben-Omran, Tawfeg; Boero, Silvio; Fredwall, Svein; et al. "Optimising the diagnosis and referral of achondroplasia in Europe: European Achondroplasia Forum best practice recommendations". Orphanet journal of rare diseases (2022): https://europepmc.org/articles/PMC9327303.
    10.1186/s13023-022-02442-2
  17. Fredwall, Svein; Allum, Yana; AlSayed, Moeenaldeen; Alves, Inês; Ben-Omran, Tawfeg; Boero, Silvio; Cormier-Daire, Valerie; et al. "Optimising care and follow-up of adults with achondroplasia". Orphanet journal of rare diseases (2022): https://europepmc.org/articles/PMC9392284.
    10.1186/s13023-022-02479-3
  18. Maduro, Ana Isabel; Pinto Saraiva, André; Pimenta Rodrigues, Orlando; Marques, Marta; B Sousa, Sérgio; Malcata, Armando; Perez de Nanclares, Guiomar; Serra, Sara. "Albright's hereditary osteodystrophy: an entity to recognize". Rheumatology (Oxford, England) (2022): https://doi.org/10.1093/rheumatology/keac277.
    10.1093/rheumatology/keac277
  19. Calame, Daniel G; Herman, Isabella; Maroofian, Reza; Marshall, Aren E; Donis, Karina Carvalho; Fatih, Jawid M; Mitani, Tadahiro; et al. "Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia". Annals of neurology (2022): https://europepmc.org/articles/PMC10054521.
    10.1002/ana.26381
  20. Gomes, Tiago Fernandes; Kieselová, Katarina; Santiago, Felicidade; Cardoso, José C; Cunha, Fernanda; Sousa, Sérgio B; Perez de Nanclares, Guiomar. "Congenital cutaneous ossification". Journal of paediatrics and child health (2022): https://doi.org/10.1111/jpc.15814.
    10.1111/jpc.15814
  21. Kumble, Smitha; Levy, Amanda M; Punetha, Jaya; Gao, Hua; Ah Mew, Nicholas; Anyane-Yeboa, Kwame; Benke, Paul J; et al. "The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder". Human mutation (2022): https://findresearcher.sdu.dk/ws/files/196826433/humu.24308.pdf.
    10.1002/humu.24308
  22. Joana de Brito Chagas; Cordinhã C; do Carmo C; Cristina Alves; Karen E. Heath; Sousa SB; Gomes C. "Vitamin D-Dependent Rickets Type 1A in Two Siblings with a Hypomorphic CYP27B1 Variant Frequent in the African Population.". Journal of pediatric genetics (2021): https://europepmc.org/articles/PMC10984714.
    10.1055/s-0041-1736559
  23. Carminho-Rodrigues, Maria Teresa; Steel, Dora; Sousa, Sergio B; Brandt, Gregor; Guipponi, Michel; Laurent, Sacha; Fokstuen, Siv; et al. "Complex movement disorder in a patient with heterozygous YY1 mutation (Gabriele-de Vries syndrome)". American journal of medical genetics. Part A (2020): https://discovery.ucl.ac.uk/id/eprint/10111337/.
    10.1002/ajmg.a.61731
  24. Cappuccio, Gerarda; Sayou, Camille; Tanno, Pauline Le; Tisserant, Emilie; Bruel, Ange-Line; Kennani, Sara El; Sá, Joaquim; et al. "De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides-Baraitser syndrome". Genetics in medicine : official journal of the American College of Medical Genetics (2020): http://www.gimjournal.org/article/S1098360021007851/pdf.
    10.1038/s41436-020-0898-y
  25. Peter, Virginie G; Quinodoz, Mathieu; Pinto-Basto, Jorge; Sousa, Sergio B; Di Gioia, Silvio Alessandro; Soares, Gabriela; Ferraz Leal, Gabriela; et al. "The Liberfarb syndrome, a multisystem disorder affecting eye, ear, bone, and brain development, is caused by a founder pathogenic variant in thePISD gene". Genetics in medicine : official journal of the American College of Medical Genetics (2019): https://europepmc.org/articles/PMC6892740.
    10.1038/s41436-019-0595-x
  26. Szenker-Ravi E; Umut Altunoglu; Leushacke M; Bosso-Lefèvre C; Khatoo M; Thi Tran H; Thomas Naert; et al. "Author Correction: RSPO2 inhibition of RNF43 and ZNRF3 governs limb development independently of LGR4/5/6.". Nature (2018): https://doi.org/10.1038/s41586-018-0296-7.
    10.1038/s41586-018-0296-7
  27. Dale Bryant; Liu Y; Datta S; Hariri H; Seda M; Anderson G; Emma Peskett; et al. "SNX14 mutations affect endoplasmic reticulum-associated neutral lipid metabolism in autosomal recessive spinocerebellar ataxia 20.". Human molecular genetics (2018): https://europepmc.org/articles/PMC5961352.
    10.1093/hmg/ddy101
  28. Emmanuelle SZENKER-RAVI; Umut Altunoglu; Leushacke M; Célia Bosso-Lefèvre; Khatoo M; Thi Tran H; Thomas Naert; et al. "RSPO2 inhibition of RNF43 and ZNRF3 governs limb development independently of LGR4/5/6.". Nature (2018): https://doi.org/10.1038/s41586-018-0118-y.
    10.1038/s41586-018-0118-y
  29. Rainger, Joe; van Beusekom, Ellen; Ramsay, Jacqueline K; McKie, Lisa; Al-Gazali, Lihadh; Pallotta, Rosanna; Saponari, Anita; et al. "Correction: Loss of the BMP Antagonist, SMOC-1, Causes Ophthalmo-Acromelic (Waardenburg Anophthalmia) Syndrome in Humans and Mice". PLoS genetics (2018): https://europepmc.org/articles/PMC6306194.
    10.1371/journal.pgen.1007866
  30. Sentchordi-Montané, Lucía; Aza-Carmona, Miriam; Benito-Sanz, Sara; Barreda-Bonis, Ana C; Sánchez-Garre, Consuelo; Prieto-Matos, Pablo; Ruiz-Ocaña, Pablo; et al. "Heterozygous aggrecan variants are associated with short stature and brachydactyly: Description of 16 probands and a review of the literature". Clinical endocrinology (2018): http://rihuc.huc.min-saude.pt/bitstream/10400.4/2197/1/Heterozygous%20aggrecan%20variants%20are%20associated%20with%20short.pdf.
    10.1111/cen.13581
  31. Piard, Juliette; Lespinasse, James; Vlckova, Marketa; Mensah, Martin A; Iurian, Sorin; Simandlova, Martina; Malikova, Marcela; et al. "Cutis laxa and excessive bone growth due to de novo mutations in PTDSS1". American journal of medical genetics. Part A (2018): https://europepmc.org/articles/PMC5838527.
    10.1002/ajmg.a.38604
  32. Oud MM; Tuijnenburg P; Hempel M; van Vlies N; Ren Z; Sacha Ferdinandusse; Jansen MH; et al. "Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome.". American journal of human genetics (2017): https://europepmc.org/articles/PMC5294674.
    10.1016/j.ajhg.2017.01.013
  33. Ghosh, Somadri; Huber, Céline; Siour, Quentin; Sousa, Sérgio B; Wright, Michael; Cormier-Daire, Valérie; Erneux, Christophe. "Fibroblasts derived from patients with opsismodysplasia display SHIP2-specific cell migration and adhesion defects". Human mutation (2017): https://doi.org/10.1002/humu.23321.
    10.1002/humu.23321
  34. Sousa, Sérgio B; Ramos, Fabiana; Garcia, Paula; Pais, Rui P; Paiva, Catarina; Beales, Philip L; Moore, Gudrun E; Saraiva, Jorge M; Hennekam, Raoul C M. "Intellectual disability, coarse face, relative macrocephaly, and cerebellar hypotrophy in two sisters". American journal of medical genetics. Part A (2014): http://rihuc.huc.min-saude.pt/bitstream/10400.4/1925/1/Sousa%20et%20al%20%20AJMG%202013.pdf.
    10.1002/ajmg.a.36235
  35. Sousa, Sérgio B; Hennekam, Raoul C; Nicolaides-Baraitser Syndrome International Consortium. "Phenotype and genotype in Nicolaides-Baraitser syndrome". American journal of medical genetics. Part C, Seminars in medical genetics (2014): https://doi.org/10.1002/ajmg.c.31409.
    10.1002/ajmg.c.31409
  36. Sousa, Sérgio B; Jenkins, Dagan; Chanudet, Estelle; Tasseva, Guergana; Ishida, Miho; Anderson, Glenn; Docker, James; et al. "Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome". Nature genetics (2014): http://rihuc.huc.min-saude.pt/bitstream/10400.4/1596/1/ng.2829.pdf.
    10.1038/ng.2829
  37. Thomas, Anna C; Williams, Hywel; Setó-Salvia, Núria; Bacchelli, Chiara; Jenkins, Dagan; O'Sullivan, Mary; Mengrelis, Konstantinos; et al. "Mutations in SNX14 cause a distinctive autosomal-recessive cerebellar ataxia and intellectual disability syndrome". American journal of human genetics (2014): https://europepmc.org/articles/PMC4225633.
    10.1016/j.ajhg.2014.10.007
  38. Sousa, Sérgio B; Venâncio, Margarida; Chanudet, Estelle; Palmer, Rodger; Ramos, Lina; Beales, Philip L; Moore, Gudrun E; Saraiva, Jorge M; Hennekam, Raoul C. "Intellectual disability, unusual facial morphology and hand anomalies in sibs". American journal of medical genetics. Part A (2013): http://rihuc.huc.min-saude.pt/bitstream/10400.4/1589/1/AJMG.pdf.
    10.1002/ajmg.a.36124
  39. Van Houdt, Jeroen K J; Nowakowska, Beata Anna; Sousa, Sérgio B; van Schaik, Barbera D C; Seuntjens, Eve; Avonce, Nelson; Sifrim, Alejandro; et al. "Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome". Nature genetics (2012): https://doi.org/10.1038/ng.1105.
    10.1038/ng.1105
  40. Margot Bowen; Boyden ED; Ingrid Holm; Belinda Campos-Xavier; Bonafé L; Superti-Furga A; Ikegawa S; et al. "Loss-of-function mutations in PTPN11 cause metachondromatosis, but not Ollier disease or Maffucci syndrome.". PLoS genetics (2011): https://europepmc.org/articles/PMC3077396.
    10.1371/journal.pgen.1002050
  41. Beleza-Meireles, Ana; Cerqueira, Rita; Sousa, Sérgio B; Palmeiro, Aida; Ramos, Lina. "Novel deletion encompassing exons 5-12 of the UBE3A gene in a girl with Angelman syndrome". European journal of medical genetics (2011): https://doi.org/10.1016/j.ejmg.2011.02.010.
    10.1016/j.ejmg.2011.02.010
  42. Sousa, Sérgio B; Lambot-Juhan, Karen; Rio, Marlène; Baujat, Geneviève; Topouchian, Vicken; Hanna, Nadine; Le Merrer, Martine; et al. "Expanding the skeletal phenotype of Loeys-Dietz syndrome". American journal of medical genetics. Part A (2011): https://doi.org/10.1002/ajmg.a.33813.
    10.1002/ajmg.a.33813
  43. Rainger, Joe; van Beusekom, Ellen; Ramsay, Jacqueline K; McKie, Lisa; Al-Gazali, Lihadh; Pallotta, Rosanna; Saponari, Anita; et al. "Loss of the BMP antagonist, SMOC-1, causes Ophthalmo-acromelic (Waardenburg Anophthalmia) syndrome in humans and mice". PLoS genetics (2011): https://europepmc.org/articles/PMC3131273.
    10.1371/journal.pgen.1002114
  44. Sousa, Sérgio B; Baujat, Geneviéve; Abadie, Véronique; Bonnet, Damien; Sidi, Daniel; Munnich, Arnold; Krakow, Deborah; Cormier-Daire, Valérie. "Postnatal growth retardation, facial dysmorphism, spondylocarpal synostosis, cardiac defect, and inner ear malformation (cardiospondylocarpofacial syndrome?)--a distinct syndrome?". American journal of medical genetics. Part A (2010): https://doi.org/10.1002/ajmg.a.33277.
    10.1002/ajmg.a.33277
  45. Garcia, Paula; Sousa, Sérgio B; Ling, Tah Pu; Conceição, Mário; Seabra, Jorge; White, Klane K; Diogo, Luisa. "Skeletal complications in mucopolysaccharidosis VI patients: Case reports". Journal of pediatric rehabilitation medicine (2010): https://content.iospress.com:443/download/journal-of-pediatric-rehabilitation-medicine/prm00108?id=journal-of-pediatric-rehabilitation-medicine%2Fprm00108.
    10.3233/prm-2010-0108
  46. Maria Almeida; Belinda Campos-Xavier; Medeira A; Cordeiro I; Sousa AB; 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 (2009): https://doi.org/10.1111/j.1399-0004.2008.01123.x.
    10.1111/j.1399-0004.2008.01123.x
  47. Sousa, Sérgio B; Abdul-Rahman, Omar A; Bottani, Armand; Cormier-Daire, Valérie; Fryer, Alan; Gillessen-Kaesbach, Gabriele; Horn, Denise; et al. "Nicolaides-Baraitser syndrome: Delineation of the phenotype". American journal of medical genetics. Part A (2009): https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/ajmg.a.32956.
    10.1002/ajmg.a.32956
  48. Sousa, Sérgio B; Russell-Eggitt, Isabelle; Hall, Christine; Hall, Bryan D; Hennekam, Raoul C M. "Further delineation of spondylometaphyseal dysplasia with cone-rod dystrophy". American journal of medical genetics. Part A (2008): https://doi.org/10.1002/ajmg.a.32576.
    10.1002/ajmg.a.32576
  49. Sousa, Sérgio B; Pina, Raquel; Ramos, Lina; Pereira, Naigel; Krahn, Martin; Borozdin, Wiktor; Kohlhase, Jürgen; et al. "Tetra-amelia and lung hypo/aplasia syndrome: new case report and review". American journal of medical genetics. Part A (2008): https://estudogeral.sib.uc.pt/bitstream/10316/8440/1/obra.pdf.
    10.1002/ajmg.a.32489
  50. Christiane Zweier; Peippo MM; Hoyer J; Sousa S; Bottani A; Clayton-Smith J; Willie Reardon; et al. "Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome).". American journal of human genetics (2007): https://europepmc.org/articles/PMC1852727.
    10.1086/515583
Distinções

Prémio

2018 Prémio de Investigação Clinica best clinical research oral communication presented at the 21st Annual Meeting of the Sociedade Portuguesa de Genetica Humana
Sociedade Portuguesa de Genética Humana, Portugal
2014 First Prize for the Best Oral Communication at the 10th International Symposium of the Sociedade Portuguesa Doenças Metabólicas (SPDM)
Sociedade Portuguesa de Doenças Metabólicas, Portugal
2010 John M. Opitz Young Investigator Award
American Journal of Medical Genetics, Estados Unidos
2009 Isabelle Oberlé Award
European Society of Human Genetics, Áustria
2001 Prémio Prof. Doutor Henrique Oliveira
Universidade de Coimbra Faculdade de Medicina, Portugal