# Publications Search Within Results Search Within Results search ## 100 results Show filters filter\_alt Sort by Year of PublicationAlphabetical A-Z sort ## 100 results Download 100 citations download- [BibTeX](/node/1774776/export?format=bibtex) - [EndNote X3 XML](/node/1774776/export?format=endnote8) - [EndNote 7 XML](/node/1774776/export?format=endnote7) - [Endnote tagged](/node/1774776/export?format=tagged) - [Marc](/node/1774776/export?format=marc) - [PubMedId](/node/1774776/export?format=pubmed_id) - [RIS](/node/1774776/export?format=ris) ### 2025 Alkuraya I, Almansa AS, Eleonu A, Avillach P, Poduri A, Srivastava S. [Use of Computational Phenotypes for Predicting Genetic Subgroups of Cerebral Palsy.](/publication/use-computational-phenotypes-predicting-genetic-subgroups-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.](/publication/use-computational-phenotypes-predicting-genetic-subgroups-cerebral-palsy) medRxiv : the preprint server for health sciences. 2025; PMID: 39990554 - add\_circle do\_not\_disturb\_on Abstract INTRODUCTION: Emerging evidence suggests that 20-30% of cases of cerebral palsy (CP) may have a genetic cause. Our group previously identified subsets of patients with CP or CP-masquerading conditions who warrant genetic testing, including those with... 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.](/publication/robust-automated-harmonization-heterogeneous-data-through-ensemble-machine-learning) 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.](/publication/robust-automated-harmonization-heterogeneous-data-through-ensemble-machine-learning) JMIR medical informatics. 2025;13:e54133. PMID: 39844378 - add\_circle do\_not\_disturb\_on Abstract BACKGROUND: Cohort studies contain rich clinical data across large and diverse patient populations and are a common source of observational data for clinical research. Because large scale cohort studies are both time and resource intensive, one... 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.](/publication/potential-generative-pre-trained-transformer-4-gpt-4-analyse-medical-notes-three) 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.](/publication/potential-generative-pre-trained-transformer-4-gpt-4-analyse-medical-notes-three) The Lancet. Digital health. 2025;7(1):e35-e43. PMID: 39722251 - add\_circle do\_not\_disturb\_on Abstract BACKGROUND: Patient notes contain substantial information but are difficult for computers to analyse due to their unstructured format. Large-language models (LLMs), such as Generative Pre-trained Transformer 4 (GPT-4), have changed our ability to process... ### 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.](/publication/development-and-validation-open-source-pipeline-automatic-population-case-report-forms) 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.](/publication/development-and-validation-open-source-pipeline-automatic-population-case-report-forms) EBioMedicine. 2024;108:105337. PMID: 39288532 - add\_circle do\_not\_disturb\_on Abstract BACKGROUND: Clinical trials and registry studies are essential for advancing research and developing novel treatments. However, these studies rely on manual entry of thousands of variables for each patient. Repurposing real-world data can significantly... 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.](/publication/phenome-wide-profiling-identifies-genotype-phenotype-associations-phelan-mcdermid) 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.](/publication/phenome-wide-profiling-identifies-genotype-phenotype-associations-phelan-mcdermid) Molecular autism. 2024;15(1):40. PMID: 39350236 - add\_circle do\_not\_disturb\_on Abstract BACKGROUND: Phelan-McDermid syndrome (PMS) is a rare neurodevelopmental disorder caused by 22q13 deletions that include the SHANK3 gene or pathogenic sequence variants in SHANK3. It is characterized by global developmental delay, intellectual disability... Hernández-Agosto J, Santiago-Quiñones DI, García-Carmona LM, Gutiérrez-Sacristán A. [Substance use disorders and disparities in hispanic and non-hispanic older adults.](/publication/substance-use-disorders-and-disparities-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.](/publication/substance-use-disorders-and-disparities-hispanic-and-non-hispanic-older-adults) Drug and alcohol dependence. 2024;261:111357. PMID: 38896947 - add\_circle do\_not\_disturb\_on Abstract BACKGROUND: The global longevity revolution increased the older adult population, posing unique health and economic challenges with implications for healthcare, especially substance use disorders (SUD). METHODS: This was a retrospective cohort study of... Yin R, Gutierrez A, Network UD, Kobren SN, Avillach P. [VarPPUD: Variant post prioritization developed for undiagnosed genetic disorders.](/publication/varppud-variant-post-prioritization-developed-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.](/publication/varppud-variant-post-prioritization-developed-undiagnosed-genetic-disorders) medRxiv : the preprint server for health sciences. 2024; PMID: 38699371 - add\_circle do\_not\_disturb\_on Abstract Rare and ultra-rare genetic conditions are estimated to impact nearly 1 in 17 people worldwide, yet accurately pinpointing the diagnostic variants underlying each of these conditions remains a formidable challenge. Because comprehensive, functional... 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.](/publication/neurological-diagnoses-hospitalized-covid-19-patients-associated-adverse-outcomes) 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.](/publication/neurological-diagnoses-hospitalized-covid-19-patients-associated-adverse-outcomes) PLOS digital health. 2024;3(4):e0000484. PMID: 38620037 - add\_circle do\_not\_disturb\_on Abstract Few studies examining the patient outcomes of concurrent neurological manifestations during acute COVID-19 leveraged multinational cohorts of adults and children or distinguished between central and peripheral nervous system (CNS vs. PNS) involvement... 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.](/publication/contraceptive-content-shared-social-media-analysis-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.](/publication/contraceptive-content-shared-social-media-analysis-twitter) Contraception and reproductive medicine. 2024;9(1):5. PMID: 38321582 - add\_circle do\_not\_disturb\_on Abstract BACKGROUND: Information on social media may affect peoples' contraceptive decision making. We performed an exploratory analysis of contraceptive content on Twitter (recently renamed X), a popular social media platform. METHODS: We selected a random subset... 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.](/publication/human-phenotype-ontology-2024-phenotypes-around-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.](/publication/human-phenotype-ontology-2024-phenotypes-around-world) Nucleic acids research. 2024;52(D1):D1333-D1346. PMID: 37953324 - add\_circle do\_not\_disturb\_on Abstract The Human Phenotype Ontology (HPO) is a widely used resource that comprehensively organizes and defines the phenotypic features of human disease, enabling computational inference and supporting genomic and phenotypic analyses through semantic similarity... ### 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.](/publication/clinical-phenotypes-and-outcomes-children-multisystem-inflammatory-syndrome-across-0) 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.](/publication/clinical-phenotypes-and-outcomes-children-multisystem-inflammatory-syndrome-across-0) EClinicalMedicine. 2023;64:102212. PMID: 37745025 - add\_circle do\_not\_disturb\_on Abstract BACKGROUND: Multisystem inflammatory syndrome in children (MIS-C) is a severe complication of SARS-CoV-2 infection. It remains unclear how MIS-C phenotypes vary across SARS-CoV-2 variants. We aimed to investigate clinical characteristics and outcomes of... 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.](/publication/characterization-long-covid-temporal-sub-phenotypes-distributed-representation-0) 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.](/publication/characterization-long-covid-temporal-sub-phenotypes-distributed-representation-0) EClinicalMedicine. 2023;64:102210. PMID: 37745021 - add\_circle do\_not\_disturb\_on Abstract BACKGROUND: Characterizing Post-Acute Sequelae of COVID (SARS-CoV-2 Infection), or has been challenging due to the multitude of sub-phenotypes, temporal attributes, and definitions. Scalable characterization of PASC sub-phenotypes can enhance screening... - Previous page chevron\_left - [1](?page=0 "Current page") - [2](?page=1 "Go to page 2") - [3](?page=2 "Go to page 3") - [ Last page 9 ](?page=8 "Go to last page") - [ Next page chevron\_right ](?page=1 "Go to next page")