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Assessment of diagnostic yield and clinical utility of genome sequencing in critically ill infants.

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Title: Assessment of diagnostic yield and clinical utility of genome sequencing in critically ill infants.
Authors: Moreno CA; Hospital Israelita Albert Einstein, São Paulo, SP, Brazil. carolina.amoreno@einstein.br., de França M; Hospital Israelita Albert Einstein, São Paulo, SP, Brazil., Prota JRM; Hospital Israelita Albert Einstein, São Paulo, SP, Brazil., Migliavacca MP; Hospital Israelita Albert Einstein, São Paulo, SP, Brazil., Teixeira ACB; Hospital Israelita Albert Einstein, São Paulo, SP, Brazil., de Azevedo BMC; Centogene, Rostock, MV, Germany., de Santana LS; Hospital Israelita Albert Einstein, São Paulo, SP, Brazil., Perrone E; Hospital Israelita Albert Einstein, São Paulo, SP, Brazil., Espolaor JGA; Hospital Israelita Albert Einstein, São Paulo, SP, Brazil., Virmond LA; Hospital Israelita Albert Einstein, São Paulo, SP, Brazil., Minillo RM; Hospital Israelita Albert Einstein, São Paulo, SP, Brazil., Yamada RY; Hospital Israelita Albert Einstein, São Paulo, SP, Brazil., Cintra VP; Hospital Israelita Albert Einstein, São Paulo, SP, Brazil., Quaio CRDC; Hospital Israelita Albert Einstein, São Paulo, SP, Brazil., Ceroni JRM; Hospital Israelita Albert Einstein, São Paulo, SP, Brazil., Chen K; Hospital Israelita Albert Einstein, São Paulo, SP, Brazil., Silva TYT; Hospital Israelita Albert Einstein, São Paulo, SP, Brazil., Coelho AVC; Hospital Israelita Albert Einstein, São Paulo, SP, Brazil., de Oliveira GS; Hospital Israelita Albert Einstein, São Paulo, SP, Brazil., Nascimento Junior JB; Hospital Israelita Albert Einstein, São Paulo, SP, Brazil., Moura LMS; Hospital Israelita Albert Einstein, São Paulo, SP, Brazil., Mofatto LS; Hospital Israelita Albert Einstein, São Paulo, SP, Brazil., Caraciolo MP; Neogenomica Análises Genômicas, Recife, PE, Brazil., Guedes RLM; Genesis Genomics, São Paulo, SP, Brazil., Barreiro RAS; Hospital Israelita Albert Einstein, São Paulo, SP, Brazil., Gomes CS; Hospital Israelita Albert Einstein, São Paulo, SP, Brazil., Rodrigues RF; Hospital Israelita Albert Einstein, São Paulo, SP, Brazil., Correia LR; Hospital Israelita Albert Einstein, São Paulo, SP, Brazil., Oliveira APA; Hospital Israelita Albert Einstein, São Paulo, SP, Brazil., Carlos CD; Hospital Israelita Albert Einstein, São Paulo, SP, Brazil., da Matta MC; Neogenomica Análises Genômicas, Recife, PE, Brazil., Lima MM; Hospital Israelita Albert Einstein, São Paulo, SP, Brazil., Zurro NB; Hospital Israelita Albert Einstein, São Paulo, SP, Brazil., Ferreira AFM; Hospital Israelita Albert Einstein, São Paulo, SP, Brazil., Colichio GBC; Serviço Social da Indústria do Rio Grande do Sul, Porto Alegre, RS, Brazil., Campilongo GP; Hospital Israelita Albert Einstein, São Paulo, SP, Brazil., da Silva RMR; Hospital Israelita Albert Einstein, São Paulo, SP, Brazil., Ferreira LT; Hospital Israelita Albert Einstein, São Paulo, SP, Brazil., Higaki PI; Hospital Israelita Albert Einstein, São Paulo, SP, Brazil., Pelegrino KO; Hospital Israelita Albert Einstein, São Paulo, SP, Brazil., de Oliveira AC; Departamento de Pediatria, Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, SP, Brazil., Micheletti C; Departamento de Pediatria, Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, SP, Brazil., Fock RA; Departamento de Morfologia e Genética, Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, SP, Brazil., Sobreira ACXM; Faculdade de Ciências Médicas, Universidade do Estado do Rio de Janeiro, Rio de Janeiro, RJ, Brazil., Dos Santos AS; Faculdade de Ciências Médicas, Universidade do Estado do Rio de Janeiro, Rio de Janeiro, RJ, Brazil., da Silva RTB; Departamento de Pediatria, Faculdade de Ciências Médicas, Universidade do Estado do Rio de Janeiro, Rio de Janeiro, RJ, Brazil., Filho JS; Instituto de Medicina Integral Professor Fernando Figueira, Recife, PE, Brazil., Laurentino MBAL; Instituto de Medicina Integral Professor Fernando Figueira, Recife, PE, Brazil., Lyra PT; Instituto de Medicina Integral Professor Fernando Figueira, Recife, PE, Brazil., Cunha ALG; Hospital Infantil João Paulo II, Belo Horizonte, MG, Brazil., Mendes CCM; Hospital Infantil João Paulo II, Belo Horizonte, MG, Brazil., Lima JS; Hospital Infantil João Paulo II, Belo Horizonte, MG, Brazil., Steiner CE; Departamento de Genética Médica, Faculdade de Ciências Médicas, Universidade Estadual de Campinas, Campinas, SP, Brazil., Cavalcanti DP; Departamento de Genética Médica, Faculdade de Ciências Médicas, Universidade Estadual de Campinas, Campinas, SP, Brazil., Heleno JL; Departamento de Genética Médica, Faculdade de Ciências Médicas, Universidade Estadual de Campinas, Campinas, SP, Brazil., Kim CA; Departamento de Pediatria, Faculdade de Medicina da Universidade de São Paulo, São Paulo, SP, Brazil., Carneiro-Sampaio MMS; Departamento de Pediatria, Faculdade de Medicina da Universidade de São Paulo, São Paulo, SP, Brazil., de Carvalho WB; Departamento de Pediatria, Faculdade de Medicina da Universidade de São Paulo, São Paulo, SP, Brazil., Ramos ES; Departamento de Genética, Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo, Ribeirão Preto, SP, Brazil., de Almeida ML; Departamento de Neurociência e Ciências do Comportamento, Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo, Ribeirão Preto, SP, Brazil., Ferriani MPL; Departamento de Medicina, Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo, Ribeirão Preto, SP, Brazil., de Almeida TF; Hospital Israelita Albert Einstein, São Paulo, SP, Brazil., Oliveira JB; Hospital Israelita Albert Einstein, São Paulo, SP, Brazil. bosco@neogenomica.com.br.; Neogenomica Análises Genômicas, Recife, PE, Brazil. bosco@neogenomica.com.br.
Source: Pediatric research [Pediatr Res] 2026 May 08. Date of Electronic Publication: 2026 May 08.
Publication Type: Journal Article
Journal Info: Publisher: Nature Publishing Group Country of Publication: United States NLM ID: 0100714 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0447 (Electronic) Linking ISSN: 00313998 NLM ISO Abbreviation: Pediatr Res Subsets: MEDLINE
Database: MEDLINE Ultimate
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PubType: Academic Journal
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  Data: Assessment of diagnostic yield and clinical utility of genome sequencing in critically ill infants.
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  Data: <searchLink fieldCode="AU" term="%22Moreno+CA%22">Moreno CA</searchLink>; Hospital Israelita Albert Einstein, São Paulo, SP, Brazil. carolina.amoreno@einstein.br.<br /><searchLink fieldCode="AU" term="%22de+França+M%22">de França M</searchLink>; Hospital Israelita Albert Einstein, São Paulo, SP, Brazil.<br /><searchLink fieldCode="AU" term="%22Prota+JRM%22">Prota JRM</searchLink>; Hospital Israelita Albert Einstein, São Paulo, SP, Brazil.<br /><searchLink fieldCode="AU" term="%22Migliavacca+MP%22">Migliavacca MP</searchLink>; Hospital Israelita Albert Einstein, São Paulo, SP, Brazil.<br /><searchLink fieldCode="AU" term="%22Teixeira+ACB%22">Teixeira ACB</searchLink>; Hospital Israelita Albert Einstein, São Paulo, SP, Brazil.<br /><searchLink fieldCode="AU" term="%22de+Azevedo+BMC%22">de Azevedo BMC</searchLink>; Centogene, Rostock, MV, Germany.<br /><searchLink fieldCode="AU" term="%22de+Santana+LS%22">de Santana LS</searchLink>; Hospital Israelita Albert Einstein, São Paulo, SP, Brazil.<br /><searchLink fieldCode="AU" term="%22Perrone+E%22">Perrone E</searchLink>; 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            NameFull: Heleno JL
      – PersonEntity:
          Name:
            NameFull: Kim CA
      – PersonEntity:
          Name:
            NameFull: Carneiro-Sampaio MMS
      – PersonEntity:
          Name:
            NameFull: de Carvalho WB
      – PersonEntity:
          Name:
            NameFull: Ramos ES
      – PersonEntity:
          Name:
            NameFull: de Almeida ML
      – PersonEntity:
          Name:
            NameFull: Ferriani MPL
      – PersonEntity:
          Name:
            NameFull: de Almeida TF
      – PersonEntity:
          Name:
            NameFull: Oliveira JB
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 08
              M: 05
              Text: 2026 May 08
              Type: published
              Y: 2026
          Identifiers:
            – Type: issn-electronic
              Value: 1530-0447
          Titles:
            – TitleFull: Pediatric research
              Type: main
ResultId 1