Publications
100 results
100 results
2025
Alkuraya I, Almansa AS, Eleonu A, Avillach P, Poduri A, Srivastava S. Use of Computational Phenotypes for Predicting Genetic Subgroups of Cerebral Palsy.
medRxiv : the preprint server for health sciences. 2025; PMID: 39990554
Alkuraya I, Almansa AS, Eleonu A, Avillach P, Poduri A, Srivastava S. Use of Computational Phenotypes for Predicting Genetic Subgroups of Cerebral Palsy.
medRxiv : the preprint server for health sciences. 2025; PMID: 39990554
Yang D, Zhou D, Cai S, Gan Z, Pencina M, Avillach P, Cai T, Hong C. Robust Automated Harmonization of Heterogeneous Data Through Ensemble Machine Learning: Algorithm Development and Validation Study.
JMIR medical informatics. 2025;13:e54133. PMID: 39844378
Yang D, Zhou D, Cai S, Gan Z, Pencina M, Avillach P, Cai T, Hong C. Robust Automated Harmonization of Heterogeneous Data Through Ensemble Machine Learning: Algorithm Development and Validation Study.
JMIR medical informatics. 2025;13:e54133. PMID: 39844378
Menezes MCS, Hoffmann AF, Tan ALM, Nalbandyan M, Omenn GS, Mazzotti DR, Hernández-Arango A, Visweswaran S, Venkatesh S, Mandl KD, Bourgeois FT, Lee JWK, Makmur A, Hanauer DA, Semanik MG, Kerivan LT, Hill T, Forero J, Restrepo C, Vigna M, Ceriana P, Abu-El-Rub N, Avillach P, Bellazzi R, Callaci T, Gutiérrez-Sacristán A, Malovini A, Mathew JP, Morris M, Murthy VL, Buonocore TM, Parimbelli E, Patel LP, Saez C, Samayamuthu MJ, Thompson JA, Tibollo V, Xia Z, Kohane IS, Records C for CC of C 19 by EH. The potential of Generative Pre-trained Transformer 4 (GPT-4) to analyse medical notes in three different languages: a retrospective model-evaluation study.
The Lancet. Digital health. 2025;7(1):e35-e43. PMID: 39722251
Menezes MCS, Hoffmann AF, Tan ALM, Nalbandyan M, Omenn GS, Mazzotti DR, Hernández-Arango A, Visweswaran S, Venkatesh S, Mandl KD, Bourgeois FT, Lee JWK, Makmur A, Hanauer DA, Semanik MG, Kerivan LT, Hill T, Forero J, Restrepo C, Vigna M, Ceriana P, Abu-El-Rub N, Avillach P, Bellazzi R, Callaci T, Gutiérrez-Sacristán A, Malovini A, Mathew JP, Morris M, Murthy VL, Buonocore TM, Parimbelli E, Patel LP, Saez C, Samayamuthu MJ, Thompson JA, Tibollo V, Xia Z, Kohane IS, Records C for CC of C 19 by EH. The potential of Generative Pre-trained Transformer 4 (GPT-4) to analyse medical notes in three different languages: a retrospective model-evaluation study.
The Lancet. Digital health. 2025;7(1):e35-e43. PMID: 39722251
2024
Gutiérrez-Sacristán A, Makwana S, Dionne A, Mahanta S, Dyer KJ, Serrano F, Watrin C, Pages P, Mousavi S, Degala A, Lyons J, Pillion D, Zachariasse JM, Shekerdemian LS, Truong DT, Newburger JW, Avillach P. Development and validation of an open-source pipeline for automatic population of case report forms from electronic health records: a pediatric multi-center prospective study.
EBioMedicine. 2024;108:105337. PMID: 39288532
Gutiérrez-Sacristán A, Makwana S, Dionne A, Mahanta S, Dyer KJ, Serrano F, Watrin C, Pages P, Mousavi S, Degala A, Lyons J, Pillion D, Zachariasse JM, Shekerdemian LS, Truong DT, Newburger JW, Avillach P. Development and validation of an open-source pipeline for automatic population of case report forms from electronic health records: a pediatric multi-center prospective study.
EBioMedicine. 2024;108:105337. PMID: 39288532
Yin R, Wack M, Hassen-Khodja C, McDuffie MT, Bliss G, Horn EJ, Kothari C, McLarney B, Davis R, Hanson K, O’Boyle M, Betancur C, Avillach P. Phenome-wide profiling identifies genotype-phenotype associations in Phelan-McDermid syndrome using family-sourced data from an international registry.
Molecular autism. 2024;15(1):40. PMID: 39350236
Yin R, Wack M, Hassen-Khodja C, McDuffie MT, Bliss G, Horn EJ, Kothari C, McLarney B, Davis R, Hanson K, O’Boyle M, Betancur C, Avillach P. Phenome-wide profiling identifies genotype-phenotype associations in Phelan-McDermid syndrome using family-sourced data from an international registry.
Molecular autism. 2024;15(1):40. PMID: 39350236
Hernández-Agosto J, Santiago-Quiñones DI, García-Carmona LM, Gutiérrez-Sacristán A. Substance use disorders and disparities in hispanic and non-hispanic older adults.
Drug and alcohol dependence. 2024;261:111357. PMID: 38896947
Hernández-Agosto J, Santiago-Quiñones DI, García-Carmona LM, Gutiérrez-Sacristán A. Substance use disorders and disparities in hispanic and non-hispanic older adults.
Drug and alcohol dependence. 2024;261:111357. PMID: 38896947
Yin R, Gutierrez A, Network UD, Kobren SN, Avillach P. VarPPUD: Variant post prioritization developed for undiagnosed genetic disorders.
medRxiv : the preprint server for health sciences. 2024; PMID: 38699371
Yin R, Gutierrez A, Network UD, Kobren SN, Avillach P. VarPPUD: Variant post prioritization developed for undiagnosed genetic disorders.
medRxiv : the preprint server for health sciences. 2024; PMID: 38699371
Hutch MR, Son J, Le TT, Hong C, Wang X, Abad ZSH, Morris M, Gutiérrez-Sacristán A, Klann JG, Spiridou A, Batugo A, Bellazzi R, Benoit V, Bonzel CL, Bryant WA, Chiudinelli L, Cho K, Das P, González TG, Hanauer DA, Henderson DW, Ho YL, Loh NHW, Makoudjou A, Makwana S, Malovini A, Moal B, Mowery DL, Neuraz A, Samayamuthu MJ, Vidorreta FJS, Schriver ER, Schubert P, Talbert J, Tan ALM, Tan BWL, Tan BWQ, Tibollo V, Tippman P, Verdy G, Yuan W, Avillach P, Gehlenborg N, Omenn GS, EHR C for CC of C 19 by, Visweswaran S, Cai T, Luo Y, Xia Z. Neurological diagnoses in hospitalized COVID-19 patients associated with adverse outcomes: A multinational cohort study.
PLOS digital health. 2024;3(4):e0000484. PMID: 38620037
Hutch MR, Son J, Le TT, Hong C, Wang X, Abad ZSH, Morris M, Gutiérrez-Sacristán A, Klann JG, Spiridou A, Batugo A, Bellazzi R, Benoit V, Bonzel CL, Bryant WA, Chiudinelli L, Cho K, Das P, González TG, Hanauer DA, Henderson DW, Ho YL, Loh NHW, Makoudjou A, Makwana S, Malovini A, Moal B, Mowery DL, Neuraz A, Samayamuthu MJ, Vidorreta FJS, Schriver ER, Schubert P, Talbert J, Tan ALM, Tan BWL, Tan BWQ, Tibollo V, Tippman P, Verdy G, Yuan W, Avillach P, Gehlenborg N, Omenn GS, EHR C for CC of C 19 by, Visweswaran S, Cai T, Luo Y, Xia Z. Neurological diagnoses in hospitalized COVID-19 patients associated with adverse outcomes: A multinational cohort study.
PLOS digital health. 2024;3(4):e0000484. PMID: 38620037
Huang M, Gutiérrez-Sacristán A, Janiak E, Young K, Starosta A, Blanton K, Azhir A, Goldfarb CN, Kuperwasser F, Schaefer KM, Stoddard RE, Vatsa R, Merz-Herrala AA, Bartz D. Contraceptive content shared on social media: an analysis of Twitter.
Contraception and reproductive medicine. 2024;9(1):5. PMID: 38321582
Huang M, Gutiérrez-Sacristán A, Janiak E, Young K, Starosta A, Blanton K, Azhir A, Goldfarb CN, Kuperwasser F, Schaefer KM, Stoddard RE, Vatsa R, Merz-Herrala AA, Bartz D. Contraceptive content shared on social media: an analysis of Twitter.
Contraception and reproductive medicine. 2024;9(1):5. PMID: 38321582
Gargano MA, Matentzoglu N, Coleman B, Addo-Lartey EB, Anagnostopoulos A V, Anderton J, Avillach P, Bagley AM, Bakštein E, Balhoff JP, Baynam G, Bello SM, Berk M, Bertram H, Bishop S, Blau H, Bodenstein DF, Botas P, Boztug K, Čady J, Callahan TJ, Cameron R, Carbon SJ, Castellanos F, Caufield H, Chan LE, Chute CG, Cruz-Rojo J, Dahan-Oliel N, Davids JR, de Dieuleveult M, de Souza V, de Vries BBA, de Vries E, DePaulo R, Derfalvi B, Dhombres F, Diaz-Byrd C, Dingemans AJM, Donadille B, Duyzend M, Elfeky R, Essaid S, Fabrizzi C, Fico G, Firth H V, Freudenberg-Hua Y, Fullerton JM, Gabriel DL, Gilmour K, Giordano J, Goes FS, Moses RG, Green I, Griese M, Groza T, Gu W, Guthrie J, Gyori B, Hamosh A, Hanauer M, Hanušová K, He YO, Hegde H, Helbig I, Holasová K, Hoyt CT, Huang S, Hurwitz E, Jacobsen JOB, Jiang X, Joseph L, Keramatian K, King B, Knoflach K, Koolen DA, Kraus ML, Kroll C, Kusters M, Ladewig MS, Lagorce D, Lai MC, Lapunzina P, Laraway B, Lewis-Smith D, Li X, Lucano C, Majd M, Marazita ML, Martinez-Glez V, McHenry TH, McInnis MG, McMurry JA, Mihulová M, Millett CE, Mitchell PB, Moslerová V, Narutomi K, Nematollahi S, Nevado J, Nierenberg AA, Čajbiková NN, Nurnberger JI, Ogishima S, Olson D, Ortiz A, Pachajoa H, de Nanclares GP, Peters A, Putman T, Rapp CK, Rath A, Reese J, Rekerle L, Roberts AM, Roy S, Sanders SJ, Schuetz C, Schulte EC, Schulze TG, Schwarz M, Scott K, Seelow D, Seitz B, Shen Y, Similuk MN, Simon ES, Singh B, Smedley D, Smith CL, Smolinsky JT, Sperry S, Stafford E, Stefancsik R, Steinhaus R, Strawbridge R, Sundaramurthi JC, Talapova P, Castano JAT, Tesner P, Thomas RH, Thurm A, Turnovec M, van Gijn ME, Vasilevsky NA, Vlčková M, Walden A, Wang K, Wapner R, Ware JS, Wiafe AA, Wiafe SA, Wiggins LD, Williams AE, Wu C, Wyrwoll MJ, Xiong H, Yalin N, Yamamoto Y, Yatham LN, Yocum AK, Young AH, Yüksel Z, Zandi PP, Zankl A, Zarante I, Zvolský M, Toro S, Carmody LC, Harris NL, Munoz-Torres MC, Danis D, Mungall CJ, Köhler S, Haendel MA, Robinson PN. The Human Phenotype Ontology in 2024: phenotypes around the world.
Nucleic acids research. 2024;52(D1):D1333-D1346. PMID: 37953324
Gargano MA, Matentzoglu N, Coleman B, Addo-Lartey EB, Anagnostopoulos A V, Anderton J, Avillach P, Bagley AM, Bakštein E, Balhoff JP, Baynam G, Bello SM, Berk M, Bertram H, Bishop S, Blau H, Bodenstein DF, Botas P, Boztug K, Čady J, Callahan TJ, Cameron R, Carbon SJ, Castellanos F, Caufield H, Chan LE, Chute CG, Cruz-Rojo J, Dahan-Oliel N, Davids JR, de Dieuleveult M, de Souza V, de Vries BBA, de Vries E, DePaulo R, Derfalvi B, Dhombres F, Diaz-Byrd C, Dingemans AJM, Donadille B, Duyzend M, Elfeky R, Essaid S, Fabrizzi C, Fico G, Firth H V, Freudenberg-Hua Y, Fullerton JM, Gabriel DL, Gilmour K, Giordano J, Goes FS, Moses RG, Green I, Griese M, Groza T, Gu W, Guthrie J, Gyori B, Hamosh A, Hanauer M, Hanušová K, He YO, Hegde H, Helbig I, Holasová K, Hoyt CT, Huang S, Hurwitz E, Jacobsen JOB, Jiang X, Joseph L, Keramatian K, King B, Knoflach K, Koolen DA, Kraus ML, Kroll C, Kusters M, Ladewig MS, Lagorce D, Lai MC, Lapunzina P, Laraway B, Lewis-Smith D, Li X, Lucano C, Majd M, Marazita ML, Martinez-Glez V, McHenry TH, McInnis MG, McMurry JA, Mihulová M, Millett CE, Mitchell PB, Moslerová V, Narutomi K, Nematollahi S, Nevado J, Nierenberg AA, Čajbiková NN, Nurnberger JI, Ogishima S, Olson D, Ortiz A, Pachajoa H, de Nanclares GP, Peters A, Putman T, Rapp CK, Rath A, Reese J, Rekerle L, Roberts AM, Roy S, Sanders SJ, Schuetz C, Schulte EC, Schulze TG, Schwarz M, Scott K, Seelow D, Seitz B, Shen Y, Similuk MN, Simon ES, Singh B, Smedley D, Smith CL, Smolinsky JT, Sperry S, Stafford E, Stefancsik R, Steinhaus R, Strawbridge R, Sundaramurthi JC, Talapova P, Castano JAT, Tesner P, Thomas RH, Thurm A, Turnovec M, van Gijn ME, Vasilevsky NA, Vlčková M, Walden A, Wang K, Wapner R, Ware JS, Wiafe AA, Wiafe SA, Wiggins LD, Williams AE, Wu C, Wyrwoll MJ, Xiong H, Yalin N, Yamamoto Y, Yatham LN, Yocum AK, Young AH, Yüksel Z, Zandi PP, Zankl A, Zarante I, Zvolský M, Toro S, Carmody LC, Harris NL, Munoz-Torres MC, Danis D, Mungall CJ, Köhler S, Haendel MA, Robinson PN. The Human Phenotype Ontology in 2024: phenotypes around the world.
Nucleic acids research. 2024;52(D1):D1333-D1346. PMID: 37953324
2023
Sperotto F, Gutiérrez-Sacristán A, Makwana S, Li X, Rofeberg VN, Cai T, Bourgeois FT, Omenn GS, Hanauer DA, Saez C, Bonzel CL, Bucholz E, Dionne A, Elias MD, García-Barrio N, González TG, Issitt RW, Kernan KF, Laird-Gion J, Maidlow SE, Mandl KD, Ahooyi TM, Moraleda C, Morris M, Moshal KL, Pedrera-Jiménez M, Shah MA, South AM, Spiridou A, Taylor DM, Verdy G, Visweswaran S, Wang X, Xia Z, Zachariasse JM, EHR C for CC of C 19 by, Newburger JW, 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
Sperotto F, Gutiérrez-Sacristán A, Makwana S, Li X, Rofeberg VN, Cai T, Bourgeois FT, Omenn GS, Hanauer DA, Saez C, Bonzel CL, Bucholz E, Dionne A, Elias MD, García-Barrio N, González TG, Issitt RW, Kernan KF, Laird-Gion J, Maidlow SE, Mandl KD, Ahooyi TM, Moraleda C, Morris M, Moshal KL, Pedrera-Jiménez M, Shah MA, South AM, Spiridou A, Taylor DM, Verdy G, Visweswaran S, Wang X, Xia Z, Zachariasse JM, EHR C for CC of C 19 by, Newburger JW, 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
Dagliati A, Strasser ZH, Abad ZSH, Klann JG, Wagholikar KB, Mesa R, Visweswaran S, Morris M, Luo Y, Henderson DW, Samayamuthu MJ, Tan BWQ, Verdy G, Omenn GS, Xia Z, Bellazzi R, EHR C for CC of C 19 by, Murphy SN, Holmes JH, Estiri H, EHR C for CC of C 19 by. 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
Dagliati A, Strasser ZH, Abad ZSH, Klann JG, Wagholikar KB, Mesa R, Visweswaran S, Morris M, Luo Y, Henderson DW, Samayamuthu MJ, Tan BWQ, Verdy G, Omenn GS, Xia Z, Bellazzi R, EHR C for CC of C 19 by, Murphy SN, Holmes JH, Estiri H, EHR C for CC of C 19 by. 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