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Assessment of the Diagnostic Yield of Combined Cardiomyopathy and Arrhythmia Genetic Testing.
Dellefave-Castillo LM, Cirino AL, Callis TE, Esplin ED, Garcia J, Hatchell KE, Johnson B, Morales A, Regalado E, Rojahn S, Vatta M, Nussbaum RL, McNally EM. Dellefave-Castillo LM, et al. Among authors: nussbaum rl. JAMA Cardiol. 2022 Sep 1;7(9):966-974. doi: 10.1001/jamacardio.2022.2455. JAMA Cardiol. 2022. PMID: 35947370 Free PMC article.
Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer.
Rebbeck TR, Mitra N, Wan F, Sinilnikova OM, Healey S, McGuffog L, Mazoyer S, Chenevix-Trench G, Easton DF, Antoniou AC, Nathanson KL; CIMBA Consortium; Laitman Y, Kushnir A, Paluch-Shimon S, Berger R, Zidan J, Friedman E, Ehrencrona H, Stenmark-Askmalm M, Einbeigi Z, Loman N, Harbst K, Rantala J, Melin B, Huo D, Olopade OI, Seldon J, Ganz PA, Nussbaum RL, Chan SB, Odunsi K, Gayther SA, Domchek SM, Arun BK, Lu KH, Mitchell G, Karlan BY, Walsh C, Lester J, Godwin AK, Pathak H, Ross E, Daly MB, Whittemore AS, John EM, Miron A, Terry MB, Chung WK, Goldgar DE, Buys SS, Janavicius R, Tihomirova L, Tung N, Dorfling CM, van Rensburg EJ, Steele L, Neuhausen SL, Ding YC, Ejlertsen B, Gerdes AM, Hansen Tv, Ramón y Cajal T, Osorio A, Benitez J, Godino J, Tejada MI, Duran M, Weitzel JN, Bobolis KA, Sand SR, Fontaine A, Savarese A, Pasini B, Peissel B, Bonanni B, Zaffaroni D, Vignolo-Lutati F, Scuvera G, Giannini G, Bernard L, Genuardi M, Radice P, Dolcetti R, Manoukian S, Pensotti V, Gismondi V, Yannoukakos D, Fostira F, Garber J, Torres D, Rashid MU, Hamann U, Peock S, Frost D, Platte R, Evans DG, Eeles R, Davidson R, Eccles D, Cole T, Cook J, Brewer C, Hodgson S, Morrison PJ, Walker L… See abstract for full author list ➔ Rebbeck TR, et al. Among authors: nussbaum rl. JAMA. 2015 Apr 7;313(13):1347-61. doi: 10.1001/jama.2014.5985. JAMA. 2015. PMID: 25849179 Free PMC article.
Regional Variation in RBM20 Causes a Highly Penetrant Arrhythmogenic Cardiomyopathy.
Parikh VN, Caleshu C, Reuter C, Lazzeroni LC, Ingles J, Garcia J, McCaleb K, Adesiyun T, Sedaghat-Hamedani F, Kumar S, Graw S, Gigli M, Stolfo D, Dal Ferro M, Ing AY, Nussbaum R, Funke B, Wheeler MT, Hershberger RE, Cook S, Steinmetz LM, Lakdawala NK, Taylor MRG, Mestroni L, Merlo M, Sinagra G, Semsarian C, Meder B, Judge DP, Ashley E. Parikh VN, et al. Circ Heart Fail. 2019 Mar;12(3):e005371. doi: 10.1161/CIRCHEARTFAILURE.118.005371. Circ Heart Fail. 2019. PMID: 30871351 Free PMC article.
Possible precision medicine implications from genetic testing using combined detection of sequence and intragenic copy number variants in a large cohort with childhood epilepsy.
Truty R, Patil N, Sankar R, Sullivan J, Millichap J, Carvill G, Entezam A, Esplin ED, Fuller A, Hogue M, Johnson B, Khouzam A, Kobayashi Y, Lewis R, Nykamp K, Riethmaier D, Westbrook J, Zeman M, Nussbaum RL, Aradhya S. Truty R, et al. Among authors: nussbaum rl. Epilepsia Open. 2019 Jul 1;4(3):397-408. doi: 10.1002/epi4.12348. eCollection 2019 Sep. Epilepsia Open. 2019. PMID: 31440721 Free PMC article.
332 results