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669 results

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Page 1
The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the Clinical Validity of 111 Gene-Disease Relationships.
Broeren E, Gitau V, Byrne A, Ajuyah P, Balzotti M, Berg J, Bluske K, Bowen BM, Brown MP, Buchanan A, Burns B, Burns NJ, Chandrasekhar A, Chawla A, Chong J, Chopra M, Clause A, DiStefano M, DiTroia S, Elnagheeb M, Girod A, Goel H, Golden-Grant K, Ha T, Hamosh A, Huang J, Hughes M, Jamuar S, Kam S, Kesari A, Koh AL, Lassiter R, Leigh S, Lemire G, Lim JY, Malhotra A, McCurry H, Milewski B, Moosa S, Murray S, Owens E, Palmer E, Palus B, Patel M, Rajkumar R, Ratliff J, Raymond FL, Assis BDRR, Sajan S, Schlachetzki Z, Schmidt S, Stark Z, Strom S, Taylor J, Thaxton C, Thrush D, Toro S, Tshering K, Vasilevsky N, Wayburn B, Webb R, O'Donnell-Luria A, Coffey AJ. Broeren E, et al. Among authors: strom s. medRxiv [Preprint]. 2024 Nov 20:2024.11.19.24317561. doi: 10.1101/2024.11.19.24317561. medRxiv. 2024. PMID: 39606380 Free PMC article. Preprint.
Expanded Newborn Screening Using Genome Sequencing for Early Actionable Conditions.
Ziegler A, Koval-Burt C, Kay DM, Suchy SF, Begtrup A, Langley KG, Hernan R, Amendola LM, Boyd BM, Bradley J, Brandt T, Cohen LL, Coffey AJ, Devaney JM, Dygulska B, Friedman B, Fuleihan RL, Gyimah A, Hahn S, Hofherr S, Hruska KS, Hu Z, Jeanne M, Jin G, Johnson DA, Kavus H, Leibel RL, Lobritto SJ, McGee S, Milner JD, McWalter K, Monaghan KG, Orange JS, Pimentel Soler N, Quevedo Y, Ratner S, Retterer K, Shah A, Shapiro N, Sicko RJ, Silver ES, Strom S, Torene RI, Williams O, Ustach VD, Wynn J, Taft RJ, Kruszka P, Caggana M, Chung WK. Ziegler A, et al. Among authors: strom s. JAMA. 2024 Oct 24:e2419662. doi: 10.1001/jama.2024.19662. Online ahead of print. JAMA. 2024. PMID: 39446378
Parkinson's disease variant detection and disclosure: PD GENEration, a North American study.
Cook L, Verbrugge J, Schwantes-An TH, Schulze J, Foroud T, Hall A, Marder KS, Mata IF, Mencacci NE, Nance MA, Schwarzschild MA, Simuni T, Bressman S, Wills AM, Fernandez HH, Litvan I, Lyons KE, Shill HA, Singer C, Tropea TF, Vanegas Arroyave N, Carbonell J, Cruz Vicioso R, Katus L, Quinn JF, Hodges PD, Meng Y, Strom SP, Blauwendraat C, Lohmann K, Casaceli C, Rao SC, Ghosh Galvelis K, Naito A, Beck JC, Alcalay RN. Cook L, et al. Among authors: strom sp. Brain. 2024 Aug 1;147(8):2668-2679. doi: 10.1093/brain/awae142. Brain. 2024. PMID: 39074992 Free PMC article.
Morphology, behavior, and phylogenomics of Oxytoxum lohmannii, Dinoflagellata.
Cooney EC, Jacobson DM, Wolfe GV, Bright KJ, Saldarriaga JF, Keeling PJ, Leander BS, Strom SL. Cooney EC, et al. Among authors: strom sl. J Eukaryot Microbiol. 2024 Nov-Dec;71(6):e13050. doi: 10.1111/jeu.13050. Epub 2024 Jul 17. J Eukaryot Microbiol. 2024. PMID: 39019843 Free PMC article.
The psychosocial impact of prostate cancer screening for BRCA1 and BRCA2 carriers.
Bancroft EK, Page EC, Brook MN, Pope J, Thomas S, Myhill K, Helfand BT, Talaty P, Ong KR, Douglas E, Cook J, Rosario DJ, Salinas M, Buys SS, Anson J, Davidson R, Longmuir M, Side L, Eccles DM, Tischkowitz M, Taylor A, Cruellas M, Ballestero EP, Cleaver R, Varughese M, Barwell J, LeButt M, Greenhalgh L, Hart R, Azzabi A, Jobson I, Cogley L, Evans DG, Rothwell J, Taylor N, Hogben M, Saya S; IMPACT Study Steering Committee; IMPACT Collaborators; Eeles RA, Aaronson NK. Bancroft EK, et al. BJU Int. 2024 Sep;134(3):484-500. doi: 10.1111/bju.16432. Epub 2024 Jun 5. BJU Int. 2024. PMID: 38839570
Development of a comprehensive cardiovascular disease genetic risk assessment test.
Amendola LM, Coffey AJ, Lowry J, Avecilla J, Malhotra A, Chawla A, Thacker S, Taylor JP, Rajkumar R, Brown CM, Golden-Grant K, Hejja R, Lee JA, Medrano P, Milewski B, Mullen F, Walker A, Huertez-Vasquez A, Longoni M, Perry DL, Hostin D, Ajay SS, Kesari A, Strom SP, Margulies E, Belmont J, Lanfear DE, Taft RJ. Amendola LM, et al. Among authors: strom sp. medRxiv [Preprint]. 2024 May 9:2024.05.06.24306379. doi: 10.1101/2024.05.06.24306379. medRxiv. 2024. PMID: 38766118 Free PMC article. Preprint.
A west African ancestry-associated SNP on 8q24 predicts a positive biopsy in African American men with suspected prostate cancer following PSA screening.
Gu J, Chery L, González GMN, Huff C, Strom S, Jones JA, Griffith DP, Canfield SE, Wang X, Huang X, Roberson P, Meng QH, Troncoso P, Ittmann M, Covinsky M, Scheurer M, Irizarry Ramirez M, Pettaway CA. Gu J, et al. Among authors: strom s. Prostate. 2024 May;84(7):694-705. doi: 10.1002/pros.24686. Epub 2024 Mar 13. Prostate. 2024. PMID: 38477020
669 results