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641 results

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Page 1
Germline pathogenic SMARCA4 variants in neuroblastoma.
Witkowski L, Nichols KE, Jongmans M, van Engelen N, de Krijger RR, Herrera-Mullar J, Tytgat L, Bahrami A, Mar Fan H, Davidson AL, Robertson T, Anderson M, Hasselblatt M, Plon SE, Foulkes WD. Witkowski L, et al. J Med Genet. 2023 Oct;60(10):987-992. doi: 10.1136/jmg-2022-108854. Epub 2023 Feb 22. J Med Genet. 2023. PMID: 36813544 Free PMC article.
Optimising clinical care through CDH1-specific germline variant curation: improvement of clinical assertions and updated curation guidelines.
Luo X, Maciaszek JL, Thompson BA, Leong HS, Dixon K, Sousa S, Anderson M, Roberts ME, Lee K, Spurdle AB, Mensenkamp AR, Brannan T, Pardo C, Zhang L, Pesaran T, Wei S, Fasaye GA, Kesserwan C, Shirts BH, Davis JL, Oliveira C, Plon SE, Schrader KA, Karam R; ClinGen CDH1 Variant Curation Expert Panel. Luo X, et al. J Med Genet. 2023 Jun;60(6):568-575. doi: 10.1136/jmg-2022-108807. Epub 2022 Dec 7. J Med Genet. 2023. PMID: 36600593 Free PMC article.
Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel.
Parsons MT, de la Hoya M, Richardson ME, Tudini E, Anderson M, Berkofsky-Fessler W, Caputo SM, Chan RC, Cline MS, Feng BJ, Fortuno C, Gomez-Garcia E, Hadler J, Hiraki S, Holdren M, Houdayer C, Hruska K, James P, Karam R, Leong HS, Martins A, Mensenkamp AR, Monteiro AN, Nathan V, O'Connor R, Pedersen IS, Pesaran T, Radice P, Schmidt G, Southey M, Tavtigian S, Thompson BA, Toland AE, Turnbull C, Vogel MJ, Weyandt J, Wiggins GAR, Zec L, Couch FJ, Walker LC, Vreeswijk MPG, Goldgar DE, Spurdle AB. Parsons MT, et al. Am J Hum Genet. 2024 Sep 5;111(9):2044-2058. doi: 10.1016/j.ajhg.2024.07.013. Epub 2024 Aug 13. Am J Hum Genet. 2024. PMID: 39142283 Free article.
Host-microbe multiomic profiling identifies distinct COVID-19 immune dysregulation in solid organ transplant recipients.
Pickering H, Schaenman J, Phan HV, Maguire C, Tsitsiklis A, Rouphael N, Higuita NIA, Atkinson MA, Brakenridge S, Fung M, Messer W; IMPACC Network; Salehi-Rad R, Altman MC, Becker PM, Bosinger SE, Eckalbar W, Hoch A, Doni Jayavelu N, Kim-Schulze S, Jenkins M, Kleinstein SH, Krammer F, Maecker HT, Ozonoff A, Diray-Arce J, Shaw A, Baden L, Levy O, Reed EF, Langelier CR. Pickering H, et al. Nat Commun. 2025 Jan 10;16(1):586. doi: 10.1038/s41467-025-55823-z. Nat Commun. 2025. PMID: 39794319 Free PMC article.
Intrinsic and environmental drivers of pairwise cohesion in wild Canis social groups.
Benson JF, Keiter DA, Mahoney PJ, Allen BL, Allen L, Álvares F, Anderson ML, Barber-Meyer SM, Barocas A, Beasley JC, Behrendorff L, Belant JL, Beyer DE Jr, Boitani L, Borg BL, Boutin S, Boydston EE, Brown JL, Bump JK, Cepek JD, Chamberlain MJ, Chenaux-Ibrahim YM, Cherry SG, Ćirović D, Ciucci P, Cluff HD, Cooper SM, Crooks KR, Dupont DLJ, Fisher RN, Fortin D, Gable TD, García E, Geffen E, Gehrt SD, Gillingham M, Heard DC, Hebblewhite M, Hinton JW, Homkes AT, Howden CG, Huber D, Jackson PJ, Joly K, Kelly A, Kelly MJ, Kingdon KA, Kulkarni A, Kusak J, Kuzyk GW, Lake BC, Llaneza L, López-Bao JV, MacNulty DR, McLaren AAD, McLoughlin PD, Merrill EH, Mills KJ, Mitchell N, Moore SA, Mumma MA, Murray MH, Musiani M, Nakamura M, Neilson EW, Neufeld LM, Newsome TM, Oakleaf JK, Palacios V, Perdicas MM, Perry T, Petroelje TR, Piper CB, Prokopenko CM, Prugh LR, Riley SPD, Rio-Maior H, Roffler GH, Rollins D, Sand H, Schmiegelow FKA, Seip DR, Sorum MS, St Clair CC, Steenweg R, Strohbach MW, Tatler J, Thaker M, Thompson CA, Turner JW, Vanak AT, Vander Wal E, Wabakken P, Walter SE, Webster SC, Wheeldon TJ, Wikenros C, Windels SK, Young JK, Zabihi-Seissan S, Zimmermann B, Patterson BR. Benson JF, et al. Among authors: anderson ml. Ecology. 2024 Dec 12:e4492. doi: 10.1002/ecy.4492. Online ahead of print. Ecology. 2024. PMID: 39663892
Integration of lipidomics with targeted, single cell, and spatial transcriptomics defines an unresolved pro-inflammatory state in colon cancer.
Soundararajan R, Maurin MM, Rodriguez-Silva J, Upadhyay G, Alden AJ, Gowda SGB, Schell MJ, Yang M, Levine NJ, Gowda D, Sundaraswamy PM, Hui SP, Pflieger L, Wang H, Marcet J, Martinez C, Bennett RD, Chudzinski A, Karachristos A, Nywening TM, Cavallaro PM, Anderson ML, Coffey RJ, Nebozhyn MV, Loboda A, Coppola D, Pledger WJ, Halade GV, Yeatman TJ. Soundararajan R, et al. Among authors: anderson ml. Gut. 2024 Dec 20:gutjnl-2024-332535. doi: 10.1136/gutjnl-2024-332535. Online ahead of print. Gut. 2024. PMID: 39658263 Free article.
641 results