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Critical assessment of missense variant effect predictors on disease-relevant variant data.
Rastogi R, Chung R, Li S, Li C, Lee K, Woo J, Kim DW, Keum C, Babbi G, Martelli PL, Savojardo C, Casadio R, Chennen K, Weber T, Poch O, Ancien F, Cia G, Pucci F, Raimondi D, Vranken W, Rooman M, Marquet C, Olenyi T, Rost B, Andreoletti G, Kamandula A, Peng Y, Bakolitsa C, Mort M, Cooper DN, Bergquist T, Pejaver V, Liu X, Radivojac P, Brenner SE, Ioannidis NM. Rastogi R, et al. Among authors: bergquist t. Hum Genet. 2025 Mar;144(2-3):281-293. doi: 10.1007/s00439-025-02732-2. Epub 2025 Mar 21. Hum Genet. 2025. PMID: 40113603 Free PMC article.
Calibration of additional computational tools expands ClinGen recommendation options for variant classification with PP3/BP4 criteria.
Bergquist T, Stenton SL, Nadeau EAW, Byrne AB, Greenblatt MS, Harrison SM, Tavtigian SV, O'Donnell-Luria A, Biesecker LG, Radivojac P, Brenner SE, Pejaver V; ClinGen Sequence Variant Interpretation Working Group. Bergquist T, et al. Genet Med. 2025 Jun;27(6):101402. doi: 10.1016/j.gim.2025.101402. Epub 2025 Mar 10. Genet Med. 2025. PMID: 40084623 Free article.
Calibration of additional computational tools expands ClinGen recommendation options for variant classification with PP3/BP4 criteria.
Bergquist T, Stenton SL, Nadeau EAW, Byrne AB, Greenblatt MS, Harrison SM, Tavtigian SV, O'Donnell-Luria A, Biesecker LG, Radivojac P, Brenner SE, Pejaver V; ClinGen Sequence Variant Interpretation Working Group. Bergquist T, et al. bioRxiv [Preprint]. 2024 Sep 21:2024.09.17.611902. doi: 10.1101/2024.09.17.611902. bioRxiv. 2024. Update in: Genet Med. 2025 Jun;27(6):101402. doi: 10.1016/j.gim.2025.101402. PMID: 39345488 Free PMC article. Updated. Preprint.
Traumatic Brain Injury.
Bergquist TF, Kew CL, Wisinger AM. Bergquist TF, et al. Neurol Clin. 2024 Nov;42(4):863-874. doi: 10.1016/j.ncl.2024.05.011. Epub 2024 Jun 17. Neurol Clin. 2024. PMID: 39343480 Review.
Cognitive Performance is Associated With 1-Year Participation and Life Satisfaction Outcomes: A Traumatic Brain Injury Model Systems Study.
Gilmore N, Bergquist TF, Bogner J, Corrigan JD, Dams-O'Connor K, Dreer LE, Healy BC, Juengst SB, Kumar RG, O'Neil-Pirozzi TM, Wagner AK, Giacino JT, Edlow BL, Bodien YG. Gilmore N, et al. Among authors: bergquist tf. J Head Trauma Rehabil. 2025 May-Jun 01;40(3):E226-E239. doi: 10.1097/HTR.0000000000000997. Epub 2024 Sep 23. J Head Trauma Rehabil. 2025. PMID: 39330921
Crowd-sourced machine learning prediction of long COVID using data from the National COVID Cohort Collaborative.
Bergquist T, Loomba J, Pfaff E, Xia F, Zhao Z, Zhu Y, Mitchell E, Bhattacharya B, Shetty G, Munia T, Delong G, Tariq A, Butzin-Dozier Z, Ji Y, Li H, Coyle J, Shi S, Philips RV, Mertens A, Pirracchio R, van der Laan M, Colford JM Jr, Hubbard A, Gao J, Chen G, Velingker N, Li Z, Wu Y, Stein A, Huang J, Dai Z, Long Q, Naik M, Holmes J, Mowery D, Wong E, Parekh R, Getzen E, Hightower J, Blase J; Long COVID Computational Challenge Participants; N3C Consortium. Bergquist T, et al. EBioMedicine. 2024 Oct;108:105333. doi: 10.1016/j.ebiom.2024.105333. Epub 2024 Sep 24. EBioMedicine. 2024. PMID: 39321500 Free PMC article.
90 results