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1790 citation(s) found for "Yu, Stephanie".

Novel approach to improving teamwork in healthcare
Collura, Christopher A. , Misgen, Megan M., Stetson, Raymond C. , Mavis, Stephanie C. , Omdahl, Tami K, Reeve, Claire E, Colby, Christopher E. , Brumbaugh, Jane E.

Mayo Clinic

BMJ Leader | July 10, 2025 | Volume: 9 | Issue: 4 | Pages: 467-469

10.1136/leader-2024-001159 | PMID 40639938 Get It

Background Excellence in healthcare delivery is dependent on individuals working together on a team. Objective We sought to enhance team performance by partnering with human resources (HR) to identify opportunities unrecognised by unit leadership. Methods 100 individuals representing a cross-section of the multidisciplinary team participated in an interview focused on teamwork conducted by an HR representative. Action plans were then developed and implemented. Press Ganey Survey results for the question, “Staff worked together to care for you/your baby?” were tracked to assess patient perception of teamwork. Results Between 2022 and 2024, we observed improvement in the per cent of patients who assigned the highest rating of teamwork, culminating in 100% of patients reporting the highest score in the final quarter. Conclusion The model of HR facilitated discussions with work unit team members identified barriers to optimal teamwork, led to the implementation of action plans and resulted in an improvement in our teamwork rating by patients.
Lifetime Risk of First Symptomatic ICH or Seizure in Familial Cerebral Cavernous Malformations
Dammann, Philipp , Santos, Alejandro N. , Mavarani, Laven , Chabriat, Hugues , Croft, Jacob , Renteria, Mellisa, Jang, David, Zhang, Jun , Li, Da , Weng, Jiancong , Pilz, Robin A. , Felbor, Ute , Steinberg, Gary K. , Bervini, David , Raabe, Andreas , Rosales, Julieta , Rieß, Christoph , Karadachi, Hannah, Li, Yan , Köhrmann, Martin, Frank, Benedikt , Schmidt, Börge , Overstijns, Manou , Fung, Christian , Zafar, Atif , Nelson, Jeffrey , Zabramski, Joseph M. , Akers, Amy , Kim, Helen , Guey, Stéphanie , Chabriat, Hugues , Herve, Dominique , Zhang, Jun , Weng, Jian-Cong , Rath, Matthias , Steinberg, Gary K , Bervini, David , Rauschenbach, Laurèl , Jabbarli, Ramazan , Beck, Jürgen , Fung, Christian , Al-Shahi Salman, Rustam , Flemming, Kelly D , Lanzino, Giuseppe , Morrison, Leslie , Kim, Helen , Sure, Ulrich , Karadachi, Hanah Hadice , Santos, Alejandro N. , Guey, Stéphanie , Wu, Zhenhua , Petracca, Antonio , Fusco, Carmela , D’Agruma, Leonardo , Castori, Marco , Gu, Jing , Goldberg, Johannes , Cervio, Andrés , Villamil, Facundo , Rauschenbach, Laurèl , Oppong, Marvin Darkwah , Ahmadipour, Yahya , Wrede, Karsten Henning , Jabbarli, Ramazan , Deuschl, Cornelius , Piedade, Guilherme Santos , Wälchli, Thomas , Salman, Rustam Al‐Shahi , Flemming, Kelly D. , Lanzino, Giuseppe , Weinsheimer, Shantel , McCulloch, Charles E. , Sure, Ulrich

Mayo Clinic

Neurology | July 10, 2025 | Volume: 105 | Issue: 3 | Pages: No page available

10.1212/wnl.0000000000213798 | PMID 40638881 Get It

NCCN Guidelines® Insights: Thyroid Carcinoma, Version 1.2025
Haddad, Robert I. , Bischoff, Lindsay , Applewhite, Megan K. , Bernet, Victor , Blomain, Erik , Brito, Maria , Busaidy, Naifa L. , Campbell, Michael J. , DeLozier, Olivia M. , Duh, Quan‐Yang , Ehya, Hormoz, Grady, Erin C., Hunt, Jason P. , Kandeel, Fouad , Lamonica, Dominick , Lorch, Jochen H. , Mandel, Susan J., Mydlarz, Wojciech K. , Raeburn, Christopher D., Rezaee, Rod , Ritter, Hadley E., Roth, Mara Y. , Salgado, Sarimar Agosto , Scheri, Randall P., Sipos, Jennifer A. , Wirth, Lori J. , Darlow, Susan, Cassara, Carly J., Sliker, Bailee , Haddad, Robert , Guo, Theresa , Haymart, Megan R. , Kotwal, Anupam , Markovina, Stephanie T. , Nabell, Lisle M. , Ridge, John Andrew , Shah, Jatin P. , Sippel, Rebecca S. , Sturgeon, Cord , Wong, Richard J. , Worden, Francis P. , Yeh, Michael W.

Mayo Clinic

Journal of the National Comprehensive Cancer Network | July 10, 2025 | Volume: 23 | Issue: 7 | Pages: No page available

10.6004/jnccn.2025.0033 | PMID 40639400 Get It

The NCCN Guidelines for Thyroid Carcinoma address the management of different types of thyroid carcinoma, including papillary, follicular, oncocytic, medullary, and anaplastic carcinoma. The NCCN Thyroid Carcinoma Panel meets at least annually to review comments from reviewers within their institutions, examine relevant new data from publications and abstracts, and reevaluate and update their recommendations. These NCCN Guidelines Insights focus on the panel’s most recent recommendations regarding systemic therapies for thyroid carcinoma as well as the supporting clinical data.
Postoperative Opioid Prescribing Following Cleft Lip Repair in 1497 Patients
Gharavi, Aidin , Srikumar, Jainaha K. , Haile, Dawit T. , Polites, Stephanie F. , Bite, Uldis, Cofer, Shelagh A. , Gibreel, Waleed , Haile, Dawit, Gibreel, Waleed , Gharavi, Aidin , Habermann, Elizabeth B. , Mardini, Samir

Mayo Clinic

The Cleft Palate Craniofacial Journal | July 10, 2025 | Volume: 63 | Issue: 7 | Pages: 1963-1967

10.1177/10556656251357432 | PMID 40635468 Get It

Objective We sought to characterize the frequency of postoperative opioid prescriptions in patients undergoing cleft lip repair (CLR). Design The NSQIP-P 2023 database was queried to identify patients undergoing CLR using CPT codes. Univariable analysis was conducted to identify factors associated with postoperative opioid prescription. Setting A multicenter sample from 157 participating sites. Patients/participants A total of 1497 cases (1215 unilateral CLR and 282 bilateral CLR) were identified. Main outcomes/measures The postoperative outcomes of interest were whether an opioid was prescribed to a patient at discharge and what factors were independently associated with opioid prescribing at discharge. Results A total of 44.6% of patients with a mean age of 5.1 ± 1.9 months were prescribed opioids at discharge, most commonly oxycodone (76.3%). Univariable analysis identified an increase in weight (kg) (OR: 1.09, 95% CI: 1.02-1.17, P = .03), American Society of Anesthesiologists (ASA) classification (ordinal) (OR: 1.25, 95% CI: 1.06-1.47, P = .01), anesthesia time (10 min) (OR: 1.02, 95% CI: 1.01-1.04, P = .03), and age (months) (OR: 1.06, 95% CI: 1.00-1.12, P = .04) as being associated with opioid prescription at discharge. Bilateral versus unilateral CLR ( P = .49) and outpatient versus inpatient operation ( P = .38) were not associated with opioid prescribing. Conclusion Opioid stewardship is important in pediatric care, with our results showing age, weight, anesthesia time, and ASA classifications are predictors of opioid prescription. Further research examining contributors to patient pain following CLR is necessary to optimize opioid prescribing without negatively impacting the patient.
A Signal for Voice and Speech Abnormalities in Myalgic Encephalomyelitis/Chronic Fatigue Syndrome
Grach, Stephanie L. , Seltzer, J. L. , Orbelo, Diana M. , Seltzer, Jaime , Grach, Stephanie L , Orbelo, Diana

Mayo Clinic

Journal of Clinical Medicine | July 8, 2025 | Volume: 14 | Issue: 14 | Pages: 4847

10.3390/jcm14144847 | PMID 40725538 Get It

Background/Objectives: Patients with myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS) may report abnormalities in voice and speech; however, no formal research has been conducted in this area. Methods: An online mixed-methods survey was completed by 685 people with ME/CFS. A total of 302 respondents completed the qualitative component (44.09%). Questions assessed disease experience with ME/CFS and post-exertional malaise without prompting on specific symptoms. Within the qualitative results, a search of the terms “speech, voice,” “words,” and “speak” was conducted. Results: Excluding neurocognitive associations, colloquial phrases, and “speech therapy,” there were 38 mentions of the terms in the context of voice or speech changes across 28 unique qualitative survey responses (9.27%). Conclusions: A notable portion of respondents reported voice or speech changes when responding to open-ended qualitative questions about their disease experience. More research is needed regarding the implications of voice and speech anomalies in ME/CFS pathology and disease monitoring.
Identifying features of prior hemorrhage in cerebral cavernous malformations on quantitative susceptibility maps: a machine learning pilot study
Kinkade, Serena , Li, Hui , Stadnik, Agnieszka , Papaioannou, John , Kim, Helen , Torbey, Michel , Awad, Issam A., Kim, Helen , Hage, Stephanie , Koskimäki, Janne , Lee, Justine C. , Shenkar, Robert , Flemming, Kelly D. , Huang, Judy , Carroll, Timothy , Girard, Romuald , Giger, Maryellen , Awad, Issam A.

Mayo Clinic

Journal of Neurosurgery | July 4, 2025 | Volume: 143 | Issue: 6 | Pages: 1567-1574

10.3171/2025.3.jns243051 | PMID 40614265 Get It

Features of new bleeding on conventional imaging in cerebral cavernous malformations (CCMs) often disappear after several weeks, yet the risk of rebleeding persists long thereafter. Increases in mean lesional quantitative susceptibility mapping (QSM) ≥ 6% on MRI during 1 year of prospective surveillance have been associated with new symptomatic hemorrhage (SH) during that period. The authors hypothesized that QSM at a single time point reflects features of hemorrhage in the prior year or potential bleeding in the subsequent year. Twenty-eight features were extracted from 265 QSM acquisitions in 120 patients enrolled in a prospective trial readiness project, and machine learning methods examined associations with SH and biomarker bleed (QSM increase ≥ 6%) in prior and subsequent years. QSM features including sum variance, variance, and correlation had lower average values in lesions with SH in the prior year (p < 0.05, false discovery rate corrected). A support-vector machine classifier recurrently selected sum average, mean lesional QSM, sphericity, and margin sharpness features to distinguish biomarker bleeds in the prior year (area under the curve = 0.61, 95% CI 0.52–0.70; p = 0.02). No QSM features were associated with a subsequent bleed. These results provide proof of concept that machine learning may derive features of QSM reflecting prior hemorrhagic activity, meriting further investigation. Clinical trial registration no.: NCT03652181 ( ClinicalTrials.gov )
Imaging-based Surgical Site Infection Detection Using Artificial Intelligence
Muaddi, Hala , Anderson, Stephanie , Etzioni, David A. , McLaughlin, Sarah A. , Kendrick, Michael L. , Salehinejad, Hojjat , Anderson, Stephanie S., Etzioni, David, Kendrick, Michael, Choudhary, Ashok, Lee, Frank, Habermann, Elizabeth B. , Thiels, Cornelius A.

Mayo Clinic

Annals of Surgery | July 3, 2025 | Volume: 282 | Issue: 3 | Pages: 419-428

10.1097/sla.0000000000006826 | PMID 40607706 Get It

Objective: To develop an artificial intelligence–based pipeline to assess and triage patient-submitted postoperative wound images. Background: The rise of outpatient surgeries, remote monitoring, and patient-submitted wound images via online portals has contributed to a growing administrative workload on clinicians. Early identification of surgical site infection (SSI) is essential for reducing postoperative morbidity. Methods: Patients ≥18 years old who underwent surgery at 9 affiliated Mayo Clinic hospitals (2019-2022) and were captured by the National Surgical Quality Improvement Program (NSQIP) were included. Eligibility required submission of one image via the patient portal within 30 days after surgery. Images were independently screened in duplicate to determine the presence of an incision. SSI outcomes were obtained from NSQIP. The developed model consisted of 2 stages: incision detection and SSI detection in images with incisions. Four pretrained architectures were evaluated using 10-fold cross-validation, with upsampling and data augmentation to mitigate class imbalance. An end-to-end pipeline, image quality assessment and sensitivity analysis stratified by race were also performed. Results: Among 6060 patients, the median age was 54 years (interquartile range: 40–65), 61.4% (n=3805) were female, and 92.5% (n=5731) identified as White. SSIs were confirmed in 6.2% (n=386) images. Vision Transformer outperformed all others, achieving an incision detection accuracy of 0.94 (area under the curve=0.98) and an SSI detection accuracy of 0.73 (area under the curve=0.81). In addition, it demonstrated strong performance in assessing image quality. Sensitivity analysis revealed comparable performance across racial subgroups. Conclusion: This artificial intelligence pipeline demonstrates promising performance in automating wound image assessment and SSI detection, reducing clinical workload and improving postoperative care.
Survey of Early Practices and Perceptions of Liver Machine Perfusion Among US Liver Transplant Surgeons
Nguyen, Michelle , Li, Xingjie , Ohara, Stephanie, Motamed, Mehrdad, Moss, Adyr A. , Reddy, Kunam S. , Mathur, Amit K. , Nguyen, Michelle C , Zhang, Chi , Motamed, Mehrdad, Jadlowiec, Caroline C.

Mayo Clinic

Transplantation Direct | June 27, 2025 | Volume: 11 | Issue: 7 | Pages: e1841

10.1097/txd.0000000000001841 | PMID 40590003 Get It

Background. Ex vivo machine perfusion (MP) has transformed organ preservation, offering significant benefits in liver transplantation (LT), particularly with high-risk donor grafts. However, adoption in the United States has been limited. We aimed to examine early adoption trends, surgeon perceptions, and barriers to implementing MP in the United States after Food and Drug Administration approval of MP platforms. Methods. A 23-question electronic survey was distributed to members of the American Society of Transplant Surgeons between October and November 2022, capturing attitudes and practices related to MP adoption. Responses from 96 surgeons representing 77 LT centers across 11 Organ Procurement and Transplantation Network regions were analyzed. Results. Forty-four respondents (48%) reported having an MP program at their institution. Adoption of MP was significantly more common in high-volume centers and those performing ≥20 donation after circulatory death (DCD) transplants annually (P < 0.001). MP utilization received strong support, with 88% endorsing its use for DCD liver allografts and 82% for donation after brain death allografts. Respondents cited MP’s ability to reduce ischemic cholangiopathy, enable graft repair, and facilitate viability assessment as key benefits. Normothermic MP was preferred for high-risk donor profiles, including DCD grafts, older donors, and steatotic livers, and was associated with an increased willingness to accept medically complex grafts compared with static cold storage. Barriers to MP utilization included program costs, personnel demands, and logistical complexities. Centers with higher proportions of privately insured patients were more likely to adopt MP. Despite these challenges, 84% of respondents expressed interest in future MP adoption. Conclusions. MP enhances graft utilization and outcomes, particularly for complex and high-risk donor livers, but widespread US adoption requires addressing financial and logistical barriers. Future efforts should focus on refining cost-effectiveness analyses, collaboration with organ procurement organizations and device companies, and developing standardized training to optimize MP integration and maximize its clinical impact on LT.
Ruxolitinib in Patients With Corticosteroid-Refractory or Corticosteroid-Dependent Chronic Graft-Versus-Host Disease: 3-Year Final Analysis of the Phase III REACH3 Study
Zeiser, Robert , Russo, Domenico , Ram, Ron , Hashmi, Shahrukh K. , Chakraverty, Ronjon , Middeke, Jan Moritz , Musso, Maurizio , Uzay, Ant , Langmuir, Peter, Burock, K., Gowda, Maanasa, Stefanelli, Tommaso , Lee, Stephanie J. , Hamad, Nada , Lee, Stephanie J , Teshima, Takanori , Locatelli, Franco , Giebel, Sebastian , Hamad, Nada

Mayo Clinic

Journal of Clinical Oncology | June 25, 2025 | Volume: 43 | Issue: 23 | Pages: 2566-2571

10.1200/jco-24-02477 | PMID 40561385 Get It

In REACH3 (ClinicalTrials.gov identifier: NCT03112603 ), ruxolitinib was investigated versus best available therapy (BAT) for 3 years in patients with steroid-refractory/dependent chronic graft-versus-host-disease (SR/D-cGVHD). Patients received ruxolitinib (10 mg twice daily) or BAT for 24 weeks; thereafter (weeks 24-156), patients continued randomized treatment, entered long-term survival follow-up, or crossed over from BAT to ruxolitinib. In 329 randomly assigned patients (ruxolitinib: 165; BAT: 164), the median failure-free survival (FFS) was 38.4 months for ruxolitinib versus 5.7 months for BAT (hazard ratio, 0.36 [95% CI, 0.27 to 0.49]). Median duration of response (DOR) was not reached for ruxolitinib versus 6.4 months for BAT. Ruxolitinib-treated patients had a higher probability of FFS (ruxolitinib: 56.5%; BAT: 18.2%) and maintaining a response (ruxolitinib: 59.6%; BAT: 26.7%) at 36 months. Median overall survival was not reached. Nonrelapse mortality and malignancy relapse/recurrence events were low. In 70 patients who crossed over to ruxolitinib, the overall response rate (50.0%) at week 24 and best overall response (81.4%) during the crossover period were consistent with the primary analysis of randomly assigned patients. No new safety signals were observed. Ruxolitinib provided longer FFS and DOR than BAT, demonstrating sustained efficacy and manageable safety over 3 years of follow-up in patients with SR/D-cGVHD.
Genomic dimensions deconstruct the clinical heterogeneity of bipolar disorder
Veen, Tracey van der , Tesfaye, Markos , Yang, Jessica , Boltz, Toni , David, Friederike S. , Crinion, Shane , Koromina, Maria , Bigdeli, Tim B., Coombes, Brandon J., Panagiotaropoulou, Georgia, Parker, Nadine, Sung, Heejong , Bass, Nicholas, Coleman, Jonathan R. I., Guzman-Parra, José , Kálmán, János , McGrouther, Caroline C., Rangan, Aaditya V. , Scott, Katie , Vreeker, Annabel , Bauer, Michael , Brunkhorst-Kanaan, Nathalie, Byerley, William , Cervantes, Pablo , Chatzinakos, Chris , Claus, Isabelle , Cruceanu, Cristiana , Cuellar-Barboza, Alfredo, Dafnas, Konstantinos , Degenhardt, Franziska, Fanous, Ayman H. , Ferrier, I. Nicol , Forty, Liz , Frank, Josef , Freimer, Nelson B. , Hamshere, Marian L., Harder, Arvid , Hautzinger, Martin , Hellgren, Dennis, Hoffmann, Per, Jönsson, Lina , Kittel‐Schneider, Sarah , Knowles, James A. , Lavebratt, Catharina , Lawrence, Jacob , Leber, Markus , Lucae, Susanne , Lundberg, Martin , Maier, Wolfgang , Maihofer, Adam X. , Maratou, Eirini , McKay, James , Medeiros, Helena , Meyer‐Lindenberg, Andreas , Moutsatsou, Paraskevi , Mühleisen, Thomas W. , O’Connell, Kevin S. , Papiol, Sergi , Perry, Amy , Pisanu, Claudia , Potash, James B. , Rapaport, Mark Hyman , Regeer, Eline J. , Rice, John P. , Schulte, Eva C. , Senner, Fanny , Shilling, Paul D. , Sirignano, Lea , Slaney, Claire , Smeland, Olav B. , Sobell, Janet L. , Stein, Dan J. , Vawter, Marquis P. , Vedder, Helmut , Witt, Stephanie H. , Zandi, Peter P. , Investigators, Genomic Psychiatry Cohort (GPC), Psychiatry, HUNT All-In, Bengesser, Susanne , Berrettini, Wade H. , Blackwood, Douglas, Boehnke, Michael , Catts, Stanley V. , Craddock, Nicholas , Dikeos, Dimitris , Ferentinos, Panagiotis , Frye, Mark A. , Gawlik, Micha , Kahn, René S., Landén, Mikael , Lenger, Melanie , Loughland, Carmel , Melle, Ingrid , Myers, R , Müller‐Myhsok, Bertram , Neale, Benjamin M. , Øedegaard, Ketil J. , Paciga, Sara A. , Pato, Carlos N. , Pawlak, Joanna , Perlis, Roy H. , Reif, Andreas , Schalling, Martin , Scott, Laura J. , Scott, Rodney J., Stahl, Eli A. , Stordal, Eystein , Sullivan, Patrick F., Vaaler, Arne E. , Waldman, Irwin D. , Ophoff, Roel A. , Mullins, Niamh , Forstner, Andreas J. , van der Veen, Tracey , Yang, Jessica Mei Kay , Alda, Martin , Ophoff, Roel A , O'Connell, Kevin S , Mullins, Niamh , Forstner, Andreas J , Grigoroiu-Serbanescu, Maria , Edenberg, Howard J , McMahon, Francis , Andreassen, Ole A , Di Florio, Arianna , McQuillin, Andrew , Witt, Stephanie H , Meyer-Lindenberg, Andreas , Stein, Dan J , Papiol, Sergi , Cruceanu, Cristiana , Schulte, Eva , Kittel-Schneider, Sarah , Lavebratt, Catharina , Pisanu, Claudia , Reif, Andreas , Perlis, Roy H , Andlauer, Till F. M. , Bigdeli, Tim B. , Coombes, Brandon J. , Greenwood, Tiffany A. , Panagiotaropoulou, Georgia , Parker, Nadine , Bass, Nicholas, Coleman, Jonathan Ri , Mitchell, Brittany L. , Shadrin, Alexey A. , Smith, Daniel J. , Adorjan, Kristina , Albani, Diego , Alemany, Silvia , Alliey‐Rodriguez, Ney , Antoniou, Anastasia , Beins, Eva Carolina , Boks, Marco P. , Bosch, Rosa , Brumpton, Ben , Budde, Monika , Cabana‐Domínguez, Judit , Cairns, Murray J. , Carpiniello, Bernardo , Casas, Miguel , Clarke, Toni‐Kim , Cuéllar‐Barboza, Alfredo B. , Czerski, Piotr M. , Dale, Anders M. , Dalkner, Nina , DePaulo, J Raymond , Djurovic, Srdjan , Escott‐Price, Valentina , Fellendorf, Frederike T. , Frei, Oleksandr , Garnham, Julie , Gizer, Ian R. , Gordon, Scott D. , Gordon‐Smith, Katherine , Hahn, Tim , Hamshere, Marian L. , Heilbronner, Urs , Herms, Stefan , Hickie, Ian Bernard , Hoffmann, Per , Holmans, Peter , Jamain, Stéphane , Kennedy, James L. , Koch, Elise , Kogevinas, Manolis , Kranz, Thorsten M. , Kushner, Steven A. , Lind, Penelope A. , Lundberg, Martin, MacIntyre, Donald J. , Malaspina, Dolores , Manchia, Mirko , Martinsson, Lina , McInnis, Melvin G. , Millischer, Vincent , Morris, Derek W. , Olsen, Catherine M. , Pardiñas, Antonio F. , Pfennig, Andrea , Quested, Digby J. , Rivera, Margarita , Sindermann, Lisa , Siskind, Dan , Artigas, María Soler , Stein, Frederike , Świątkowska, Beata , Thorp, Jackson G. , Toma, Claudio , Tondo, Leonardo , Tooney, Paul A. , Walters, James , Young, Allan H. , Zillich, Lea , Adolfsson, Rolf , Alfredsson, Lars , Backlund, Lena , Baune, Bernhard , Bellivier, Frank , Biernacka, Joanna M. , Blackwood, Douglas , Breen, Gerome , Carr, Vaughan J , Cichon, Sven , Corvin, Aiden , Dannlowski, Udo , Esko, Tõnu , Étain, Bruno , Fullerton, Janice M. , Gershon, Elliot S. , Goes, Fernando , Green, Melissa J. , Hauser, Joanna , Henskens, Frans A , Hjerling‐Leffler, Jens , Jones, Ian Richard , Jones, Lisa Anne , Kahn, René S. , Kelsoe, John R , Kircher, Tilo , Kirov, George , Kobayashi, Nene, Leboyer, Marion , Li, Qingqin S. , Lissowska, Jolanta , Loughland, Carmel M. , Luykx, Jurjen J. , Martin, Nicholas G. , Mathews, Carol A. , Mayoral, Fermín , McElroy, Susan L. , McIntosh, Andrew M. , Medland, Sarah E. , Mitchell, Philip B , Morken, Gunnar , Möser, Chiara, Nievergelt, Caroline M , Nurnberger, John I , Nöthen, Markus M. , O‘Donovan, Michael , Olsson, Tomas , Owen, Michael J. , Pantelis, Christos , Pato, Michele T. , Patrinos, George P. , Ramos‐Quiroga, Josep Antoni , Reininghaus, Eva , Ribasés, Marta , Rietschel, Marcella , Ripke, Stephan , Rouleau, Guy Armand , Schall, Ulrich , Schofield, Peter R. , Schulze, Thomas , Scott, Rodney J. , Serretti, Alessandro , Smoller, Jordan W. , Squassina, Alessio , Streit, Fabian , Turecki, Gustavo , Vieta, Eduard , Vincent, John B. , Weickert, Cynthia Shannon , Weickert, Thomas Wesley , Whiteman, David C. , Alda, Martin , Grigoroiu‐Serbânescu, Maria , McMahon, Francis J. , Andreassen, Ole A. , McQuillin, Andrew

Mayo Clinic

No container title available | June 25, 2025 | Volume: No volume available | Issue: No issue available | Pages: No page available

10.1101/2025.06.23.25330155 | PMID 40666370 Get It

ABSTRACT Bipolar disorder’s (BD) clinical heterogeneity has an unresolved genetic basis. We meta-analyzed genome-wide association studies (GWAS) of 16 BD subphenotypes in 226,032 individuals from 57 cohorts (38,022 cases); 10 advanced to multivariate and multi-trait analyses. Four factors (compulsive, psychotic, dysregulated, internalizing) explained 82.8% of shared genetic variance. BD1 and BD2 loaded on distinct factors despite a high genetic correlation; 87.0% of common-factor loci were significant in neither subtype. Unipolar mania aligned with psychosis over internalizing, and was distinguishable from BD1, and rapid cycling showed heritable cross-domain liability. We identified 356 risk loci, 158 novel, including the first univariate-GWAS associations for psychosis, unipolar mania, rapid cycling and schizoaffective disorder—and 249 credible genes (89 high-confidence), 12 with approved-drug or clinical-phase annotations. Cell-type association showed a midbrain dopaminergic–GABAergic gradient along the psychotic factor. BD’s genetic architecture appears hierarchical—a general liability resolving into dimensions of course and comorbidity beyond diagnostic subtypes.