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Universal Genetic Testing vs. Guideline-Directed Testing for Hereditary Cancer Syndromes Among Traditionally Underrepresented Patients in a Community Oncology Program.
Jones JC, Golafshar MA, Coston TW, Rao R, Wysokinska E, Johnson E, Esplin ED, Nussbaum RL, Heald B, Klint M, Barrus K, Uson PL Jr, Nguyen CC, Colon-Otero G, Bekaii-Saab TS, Dronca R, Kunze KL, Samadder NJ. Jones JC, et al. Among authors: nussbaum rl. Cureus. 2023 Apr 11;15(4):e37428. doi: 10.7759/cureus.37428. eCollection 2023 Apr. Cureus. 2023. PMID: 37181954 Free PMC article.
Comparison of Germline Genetic Testing Before and After a Medical Policy Covering Universal Testing Among Patients With Colorectal Cancer.
Moretz C, Byfield SD, Hatchell KE, Dalton J, Onglao PN, Hang L, Hansen P, Radford C, Nielsen SM, Heald B, Munro SB, Nussbaum RL, Esplin ED. Moretz C, et al. Among authors: nussbaum rl. JAMA Netw Open. 2022 Oct 3;5(10):e2238167. doi: 10.1001/jamanetworkopen.2022.38167. JAMA Netw Open. 2022. PMID: 36279135 Free PMC article.
Efficacy of National Comprehensive Cancer Network Guidelines in Identifying Pathogenic Germline Variants Among Unselected Patients with Prostate Cancer: The PROCLAIM Trial.
Shore N, Gazi M, Pieczonka C, Heron S, Modh R, Cahn D, Belkoff LH, Berger A, Mazzarella B, Veys J, Idom C, Morris D, Jayram G, Engelman A, Bukkapatnam R, Dato P, Bevan-Thomas R, Cornell R, Wise DR, Hardwick MK, Hernandez RD, Rojahn S, Layman P, Hatchell KE, Heald B, Nussbaum RL, Nielsen SM, Esplin ED. Shore N, et al. Among authors: nussbaum rl. Eur Urol Oncol. 2023 Oct;6(5):477-483. doi: 10.1016/j.euo.2023.07.008. Epub 2023 Aug 12. Eur Urol Oncol. 2023. PMID: 37574391 Free article.
Patterns of mosaicism for sequence and copy-number variants discovered through clinical deep sequencing of disease-related genes in one million individuals.
Truty R, Rojahn S, Ouyang K, Kautzer C, Kennemer M, Pineda-Alvarez D, Johnson B, Stafford A, Basel-Salmon L, Saitta S, Slavotinek A, Chandrasekharappa SC, Suarez CJ, Burnett L, Nussbaum RL, Aradhya S. Truty R, et al. Among authors: nussbaum rl. Am J Hum Genet. 2023 Apr 6;110(4):551-564. doi: 10.1016/j.ajhg.2023.02.013. Epub 2023 Mar 17. Am J Hum Genet. 2023. PMID: 36933558 Free PMC article.
Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice.
McKnight D, Morales A, Hatchell KE, Bristow SL, Bonkowsky JL, Perry MS, Berg AT, Borlot F, Esplin ED, Moretz C, Angione K, Ríos-Pohl L, Nussbaum RL, Aradhya S; ELEVIATE Consortium; Haldeman-Englert CR, Levy RJ, Parachuri VG, Lay-Son G, de Montellano DJD, Ramirez-Garcia MA, Benítez Alonso EO, Ziobro J, Chirita-Emandi A, Felix TM, Kulasa-Luke D, Megarbane A, Karkare S, Chagnon SL, Humberson JB, Assaf MJ, Silva S, Zarroli K, Boyarchuk O, Nelson GR, Palmquist R, Hammond KC, Hwang ST, Boutlier SB, Nolan M, Batley KY, Chavda D, Reyes-Silva CA, Miroshnikov O, Zuccarelli B, Amlie-Wolf L, Wheless JW, Seinfeld S, Kanhangad M, Freeman JL, Monroy-Santoyo S, Rodriguez-Vazquez N, Ryan MM, Machie M, Guerra P, Hassan MJ, Candee MS, Bupp CP, Park KL, Muller E 2nd, Lupo P, Pedersen RC, Arain AM, Murphy A, Schatz K, Mu W, Kalika PM, Plaza L, Kellogg MA, Lora EG, Carson RP, Svystilnyk V, Venegas V, Luke RR, Jiang H, Stetsenko T, Dueñas-Roque MM, Trasmonte J, Burke RJ, Hurst ACE, Smith DM, Massingham LJ, Pisani L, Costin CE, Ostrander B, Filloux FM, Ananth AL, Mohamed IS, Nechai A, Dao JM, Fahey MC, Aliu E, Falchek S, Press CA, Treat L, Eschbach K, Starks A, Kammeyer R, Bear JJ, Jacobson M, Che… See abstract for full author list ➔ McKnight D, et al. Among authors: nussbaum rl. JAMA Neurol. 2022 Dec 1;79(12):1267-1276. doi: 10.1001/jamaneurol.2022.3651. JAMA Neurol. 2022. PMID: 36315135 Free PMC article.
A Systematic Method for Detecting Abnormal mRNA Splicing and Assessing Its Clinical Impact in Individuals Undergoing Genetic Testing for Hereditary Cancer Syndromes.
Kamps-Hughes N, Carlton VEH, Fresard L, Osazuwa S, Starks E, Vincent JJ, Albritton S, Nussbaum RL, Nykamp K. Kamps-Hughes N, et al. Among authors: nussbaum rl. J Mol Diagn. 2023 Mar;25(3):156-167. doi: 10.1016/j.jmoldx.2022.12.002. Epub 2022 Dec 21. J Mol Diagn. 2023. PMID: 36563937 Free article.
Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19.
Matuozzo D, Talouarn E, Marchal A, Zhang P, Manry J, Seeleuthner Y, Zhang Y, Bolze A, Chaldebas M, Milisavljevic B, Gervais A, Bastard P, Asano T, Bizien L, Barzaghi F, Abolhassani H, Abou Tayoun A, Aiuti A, Alavi Darazam I, Allende LM, Alonso-Arias R, Arias AA, Aytekin G, Bergman P, Bondesan S, Bryceson YT, Bustos IG, Cabrera-Marante O, Carcel S, Carrera P, Casari G, Chaïbi K, Colobran R, Condino-Neto A, Covill LE, Delmonte OM, El Zein L, Flores C, Gregersen PK, Gut M, Haerynck F, Halwani R, Hancerli S, Hammarström L, Hatipoğlu N, Karbuz A, Keles S, Kyheng C, Leon-Lopez R, Franco JL, Mansouri D, Martinez-Picado J, Metin Akcan O, Migeotte I, Morange PE, Morelle G, Martin-Nalda A, Novelli G, Novelli A, Ozcelik T, Palabiyik F, Pan-Hammarström Q, de Diego RP, Planas-Serra L, Pleguezuelo DE, Prando C, Pujol A, Reyes LF, Rivière JG, Rodriguez-Gallego C, Rojas J, Rovere-Querini P, Schlüter A, Shahrooei M, Sobh A, Soler-Palacin P, Tandjaoui-Lambiotte Y, Tipu I, Tresoldi C, Troya J, van de Beek D, Zatz M, Zawadzki P, Al-Muhsen SZ, Alosaimi MF, Alsohime FM, Baris-Feldman H, Butte MJ, Constantinescu SN, Cooper MA, Dalgard CL, Fellay J, Heath JR, Lau YL, Lifton RP, Maniatis T, Mogensen TH, v… See abstract for full author list ➔ Matuozzo D, et al. Genome Med. 2023 Apr 5;15(1):22. doi: 10.1186/s13073-023-01173-8. Genome Med. 2023. PMID: 37020259 Free PMC article.
Using a chat-based informed consent tool in large-scale genomic research.
Savage SK, LoTempio J, Smith ED, Andrew EH, Mas G, Kahn-Kirby AH, Délot E, Cohen AJ, Pitsava G, Nussbaum R, Fusaro VA, Berger S, Vilain E. Savage SK, et al. J Am Med Inform Assoc. 2024 Jan 18;31(2):472-478. doi: 10.1093/jamia/ocad181. J Am Med Inform Assoc. 2024. PMID: 37665746 Free PMC article.
285 results