2024
Implications of mappings between International Classification of Diseases clinical diagnosis codes and Human Phenotype Ontology terms
Tan A, Gonçalves R, Yuan W, Brat G, Gentleman R, Kohane I, Masino A, Makoudjou A, Albayrak A, Gutiérrez-Sacristán A, Zambelli A, Malovini A, Carmona A, Hoffmann A, Gramfort A, Geva A, Blanco-Martínez A, Tan A, Terriza-Torres A, Spiridou A, Prunotto A, South A, Vallejos A, Atz A, Burgun A, Alloni A, Cattelan A, Jannot A, Neuraz A, Bellasi A, Maram A, Dagliati A, Sandrin A, Serret-Larmande A, Mensch A, Pfaff A, Batugo A, Krishnamurthy A, Adam A, Dionne A, Devkota B, Moal B, He B, Beaulieu-Jones B, Beaulieu-Jones B, Ostasiewski B, Aronow B, Tan B, Tan B, Torti C, Sáez C, Neto C, Sonday C, Caucheteux C, Mao C, Zucco C, Daniel C, Haverkamp C, Hong C, Bonzel C, Moraleda C, Leprovost D, Key D, Zöller D, Pillion D, Mowery D, Amendola D, Henderson D, Hanauer D, Taylor D, Wassermann D, Hazard D, Kraska D, Mazzotti D, Silvio D, Bell D, Murad D, Salamanca E, Bucholz E, Getzen E, Pfaff E, Schriver E, Toh E, Parimbelli E, Trecarichi E, Ashraf F, Vidorreta F, Bourgeois F, Sperotto F, Angoulvant F, Brat G, Varoquaux G, Omenn G, Agapito G, Albi G, Weber G, Verdy G, Lemaitre G, Roig-Domínguez G, Prokosch H, Zhang H, Estiri H, Krantz I, Kohane I, Honerlaw J, Cruz-Rojo J, Norman J, Balshi J, Cimino J, Aaron J, Santos J, Newburger J, Zahner J, Moore J, Marwaha J, Craig J, Klann J, Morris J, Obeid J, Vie J, Chen J, Son J, Zachariasse J, Booth J, Holmes J, Bernal-Sobrino J, Cruz-Bermúdez J, Leblanc J, Schuettler J, Dubiel J, Champ J, Olson K, Moshal K, Kernan K, Kirchoff K, Wagholikar K, Ngiam K, Cho K, Mandl K, Huling K, Chen K, Lynch K, Sanchez-Pinto L, Garmire L, Han L, Patel L, Waitman L, Lenert L, Anthony L, Esteve L, Chiudinelli L, Chiovato L, Scudeller L, Samayamuthu M, Martins M, Minicucci M, Menezes M, Vella M, Mazzitelli M, Savino M, Milano M, Okoshi M, Cannataro M, Alessiani M, Keller M, Hilka M, Wolkewitz M, Boeker M, Raskin M, Bucalo M, Hutch M, Bernaux M, Beraghi M, Morris M, Vitacca M, Pedrera-Jiménez M, Daniar M, Shah M, Liu M, Maripuri M, Kainth M, Yehya N, Santhanam N, Palmer N, Loh N, Sebire N, Romero-Garcia N, Brown N, Paris N, Griffon N, Gehlenborg N, Orlova N, García-Barrio N, Grisel O, Rojo P, Serrano-Balazote P, Sacchi P, Tippmann P, Martel P, Serre P, Avillach P, Azevedo P, Rubio-Mayo P, Schubert P, Guzzi P, Sliz P, Das P, Long Q, Ramoni R, Goh R, Badenes R, Bruno R, Kavuluru R, Bellazzi R, Issitt R, Follett R, Bradford R, Prudente R, Bey R, Griffier R, Duan R, Mahmood S, Mousavi S, Lozano-Zahonero S, Pizzimenti S, Maidlow S, Wong S, DuVall S, Cossin S, L'Yi S, Murphy S, Fan S, Visweswaran S, Rieg S, Bosari S, Makwana S, Bréant S, Bhatnagar S, Tanni S, Cormont S, Ahooyi T, Priya T, Naughton T, Ganslandt T, Colicchio T, Cai T, Gradinger T, González T, Zuccaro V, Tibollo V, Jouhet V, Quirós-González V, Panickan V, Benoit V, Njoroge W, Bryant W, Yuan W, Xiong X, Wang X, Ye Y, Luo Y, Ho Y, Strasser Z, Abad Z, Xia Z, Kate K, Hernández-Arango A, Schwamm E. Implications of mappings between International Classification of Diseases clinical diagnosis codes and Human Phenotype Ontology terms. JAMIA Open 2024, 7: ooae118. PMID: 39559493, PMCID: PMC11570992, DOI: 10.1093/jamiaopen/ooae118.Peer-Reviewed Original ResearchElectronic health recordsElectronic health record datasetInternational Classification of Diseases codesInternational Classification of DiseasesAlignment of ontologiesMedical Language SystemHuman Phenotype OntologyData annotationBiomedical entitiesUMLData integrationElectronic health record dataInternational ClassificationHuman Phenotype Ontology termsHealth recordsOntologyCodeAnnotated phenotypesClinical diagnosis codesClassification of DiseasesLanguage systemDatasetResearch ontologyMap coverageDiagnosis codes
2023
Characterization of long COVID temporal sub-phenotypes by distributed representation learning from electronic health record data: a cohort study
Dagliati A, Strasser Z, Abad Z, Klann J, Wagholikar K, Mesa R, Visweswaran S, Morris M, Luo Y, Henderson D, Samayamuthu M, Tan B, Verdy G, Omenn G, Xia Z, Bellazzi R, EHR T, Aaron J, Agapito G, Albayrak A, Albi G, Alessiani M, Alloni A, Amendola D, Angoulvant F, Anthony L, Aronow B, Ashraf F, Atz A, Avillach P, Azevedo P, Balshi J, Beaulieu-Jones B, Bell D, Bellasi A, Bellazzi R, Benoit V, Beraghi M, Bernal-Sobrino J, Bernaux M, Bey R, Bhatnagar S, Blanco-Martínez A, Bonzel C, Booth J, Bosari S, Bourgeois F, Bradford R, Brat G, Bréant S, Brown N, Bruno R, Bryant W, Bucalo M, Bucholz E, Burgun A, Cai T, Cannataro M, Carmona A, Caucheteux C, Champ J, Chen J, Chen K, Chiovato L, Chiudinelli L, Cho K, Cimino J, Colicchio T, Cormont S, Cossin S, Craig J, Cruz-Bermúdez J, Cruz-Rojo J, Dagliati A, Daniar M, Daniel C, Das P, Devkota B, Dionne A, Duan R, Dubiel J, DuVall S, Esteve L, Estiri H, Fan S, Follett R, Ganslandt T, Barrio N, Garmire L, Gehlenborg N, Getzen E, Geva A, Gradinger T, Gramfort A, Griffier R, Griffon N, Grisel O, Gutiérrez-Sacristán A, Han L, Hanauer D, Haverkamp C, Hazard D, He B, Henderson D, Hilka M, Ho Y, Holmes J, Hong C, Huling K, Hutch M, Issitt R, Jannot A, Jouhet V, Kavuluru R, Keller M, Kennedy C, Key D, Kirchoff K, Klann J, Kohane I, Krantz I, Kraska D, Krishnamurthy A, L'Yi S, Le T, Leblanc J, Lemaitre G, Lenert L, Leprovost D, Liu M, Loh N, Long Q, Lozano-Zahonero S, Luo Y, Lynch K, Mahmood S, Maidlow S, Makoudjou A, Malovini A, Mandl K, Mao C, Maram A, Martel P, Martins M, Marwaha J, Masino A, Mazzitelli M, Mensch A, Milano M, Minicucci M, Moal B, Ahooyi T, Moore J, Moraleda C, Morris J, Morris M, Moshal K, Mousavi S, Mowery D, Murad D, Murphy S, Naughton T, Neto C, Neuraz A, Newburger J, Ngiam K, Njoroge W, Norman J, Obeid J, Okoshi M, Olson K, Omenn G, Orlova N, Ostasiewski B, Palmer N, Paris N, Patel L, Pedrera-Jiménez M, Pfaff E, Pfaff A, Pillion D, Pizzimenti S, Prokosch H, Prudente R, Prunotto A, Quirós-González V, Ramoni R, Raskin M, Rieg S, Roig-Domínguez G, Rojo P, Rubio-Mayo P, Sacchi P, Sáez C, Salamanca E, Samayamuthu M, Sanchez-Pinto L, Sandrin A, Santhanam N, Santos J, Vidorreta F, Savino M, Schriver E, Schubert P, Schuettler J, Scudeller L, Sebire N, Serrano-Balazote P, Serre P, Serret-Larmande A, Shah M, Abad Z, Silvio D, Sliz P, Son J, Sonday C, South A, Spiridou A, Strasser Z, Tan A, Tan B, Tan B, Tanni S, Taylor D, Terriza-Torres A, Tibollo V, Tippmann P, Toh E, Torti C, Trecarichi E, Tseng Y, Vallejos A, Varoquaux G, Vella M, Verdy G, Vie J, Visweswaran S, Vitacca M, Wagholikar K, Waitman L, Wang X, Wassermann D, Weber G, Wolkewitz M, Wong S, Xia Z, Xiong X, Ye Y, Yehya N, Yuan W, Zambelli A, Zhang H, Zo¨ller D, Zuccaro V, Zucco C, Murphy S, Holmes J, Estiri H. Characterization of long COVID temporal sub-phenotypes by distributed representation learning from electronic health record data: a cohort study. EClinicalMedicine 2023, 64: 102210. PMID: 37745021, PMCID: PMC10511779, DOI: 10.1016/j.eclinm.2023.102210.Peer-Reviewed Original ResearchElectronic health record dataHealth record dataAdvancing Translational SciencesCohort studyNational InstituteMulti-center observational cohort studyHospitalized COVID-19 patientsObservational cohort studyPost-acute sequelaeRecord dataCOVID-19 patientsHealthcare systemLongitudinal electronic health record dataMedical Research CouncilTranslational scienceNational Medical Research CouncilPASC symptomsJoint painTotal cohortClinical characterizationHigh prevalenceMultiple symptomsNeurological disordersAverage prevalenceInfectious diseasesClinical phenotypes and outcomes in children with multisystem inflammatory syndrome across SARS-CoV-2 variant eras: a multinational study from the 4CE consortium
Sperotto F, Gutiérrez-Sacristán A, Makwana S, Li X, Rofeberg V, Cai T, Bourgeois F, Omenn G, Hanauer D, Sáez C, Bonzel C, Bucholz E, Dionne A, Elias M, García-Barrio N, González T, Issitt R, Kernan K, Laird-Gion J, Maidlow S, Mandl K, Ahooyi T, Moraleda C, Morris M, Moshal K, Pedrera-Jiménez M, Shah M, South A, Spiridou A, Taylor D, Verdy G, Visweswaran S, Wang X, Xia Z, Zachariasse J, EHR T, Aaron J, Adam A, Agapito G, Albayrak A, Albi G, Alessiani M, Alloni A, Amendola D, Angoulvant F, Anthony L, Aronow B, Ashraf F, Atz A, Avillach P, Panickan V, Azevedo P, Badenes R, Balshi J, Batugo A, Beaulieu-Jones B, Beaulieu-Jones B, Bell D, Bellasi A, Bellazzi R, Benoit V, Beraghi M, Bernal-Sobrino J, Bernaux M, Bey R, Bhatnagar S, Blanco-Martínez A, Boeker M, Bonzel C, Booth J, Bosari S, Bourgeois F, Bradford R, Brat G, Bréant S, Brown N, Bruno R, Bryant W, Bucalo M, Bucholz E, Burgun A, Cai T, Cannataro M, Carmona A, Cattelan A, Caucheteux C, Champ J, Chen J, Chen K, Chiovato L, Chiudinelli L, Cho K, Cimino J, Colicchio T, Cormont S, Cossin S, Craig J, Cruz-Bermúdez J, Cruz-Rojo J, Dagliati A, Daniar M, Daniel C, Das P, Devkota B, Dionne A, Duan R, Dubiel J, DuVall S, Esteve L, Estiri H, Fan S, Follett R, Ganslandt T, García-Barrio N, Garmire L, Gehlenborg N, Getzen E, Geva A, Goh R, González T, Gradinger T, Gramfort A, Griffier R, Griffon N, Grisel O, Gutiérrez-Sacristán A, Guzzi P, Han L, Hanauer D, Haverkamp C, Hazard D, He B, Henderson D, Hilka M, Ho Y, Holmes J, Honerlaw J, Hong C, Huling K, Hutch M, Issitt R, Jannot A, Jouhet V, Kainth M, Kate K, Kavuluru R, Keller M, Kennedy C, Kernan K, Key D, Kirchoff K, Klann J, Kohane I, Krantz I, Kraska D, Krishnamurthy A, L'Yi S, Leblanc J, Lemaitre G, Lenert L, Leprovost D, Liu M, Loh N, Long Q, Lozano-Zahonero S, Luo Y, Lynch K, Mahmood S, Maidlow S, Makoudjou A, Makwana S, Malovini A, Mandl K, Mao C, Maram A, Maripuri M, Martel P, Martins M, Marwaha J, Masino A, Mazzitelli M, Mazzotti D, Mensch A, Milano M, Minicucci M, Moal B, Ahooyi T, Moore J, Moraleda C, Morris J, Morris M, Moshal K, Mousavi S, Mowery D, Murad D, Murphy S, Naughton T, Neto C, Neuraz A, Newburger J, Ngiam K, Njoroge W, Norman J, Obeid J, Okoshi M, Olson K, Omenn G, Orlova N, Ostasiewski B, Palmer N, Paris N, Patel L, Pedrera-Jiménez M, Pfaff A, Pfaff E, Pillion D, Pizzimenti S, Priya T, Prokosch H, Prudente R, Prunotto A, Quirós-González V, Ramoni R, Raskin M, Rieg S, Roig-Domínguez G, Rojo P, Romero-Garcia N, Rubio-Mayo P, Sacchi P, Sáez C, Salamanca E, Samayamuthu M, Sanchez-Pinto L, Sandrin A, Santhanam N, Santos J, Vidorreta F, Savino M, Schriver E, Schubert P, Schuettler J, Scudeller L, Sebire N, Serrano-Balazote P, Serre P, Serret-Larmande A, Shah M, Abad Z, Silvio D, Sliz P, Son J, Sonday C, South A, Sperotto F, Spiridou A, Strasser Z, Tan A, Tan B, Tan B, Tanni S, Taylor D, Terriza-Torres A, Tibollo V, Tippmann P, Toh E, Torti C, Trecarichi E, Vallejos A, Varoquaux G, Vella M, Verdy G, Vie J, Visweswaran S, Vitacca M, Wagholikar K, Waitman L, Wang X, Wassermann D, Weber G, Wolkewitz M, Wong S, Xia Z, Xiong X, Ye Y, Yehya N, Yuan W, Zachariasse J, Zahner J, Zambelli A, Zhang H, Zöller D, Zuccaro V, Zucco C, Newburger J, Avillach P. Clinical phenotypes and outcomes in children with multisystem inflammatory syndrome across SARS-CoV-2 variant eras: a multinational study from the 4CE consortium. EClinicalMedicine 2023, 64: 102212. PMID: 37745025, PMCID: PMC10511777, DOI: 10.1016/j.eclinm.2023.102212.Peer-Reviewed Original ResearchSystemic inflammatory response syndromeSARS-CoV-2 eraMultisystem inflammatory syndromeLower lymphocyte countsLower troponinInflammatory syndromeLymphocyte countRisk differenceClinical phenotypeLower C-reactive proteinSARS-CoV-2 infectionPooled risk differenceInflammatory response syndromeLength of hospitalizationObservational retrospective studyC-reactive proteinElectronic health record dataSARS-CoV-2 variantsOutcomes of MISHealth record dataEffect sizeAnticoagulation therapyClinical characteristicsRespiratory symptomsRare complication