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Page 1
Response to Grosse et al.
Kingsmore SF, Smith LD, Kunard CM, Bainbridge M, Batalov S, Benson W, Blincow E, Caylor S, Chambers C, Del Angel G, Dimmock DP, Ding Y, Ellsworth K, Feigenbaum A, Frise E, Green RC, Guidugli L, Hall KP, Hansen C, Hobbs CA, Kahn SD, Kiel M, Van Der Kraan L, Krilow C, Kwon YH, Madhavrao L, Le J, Lefebvre S, Mardach R, Mowrey WR, Oh D, Owen MJ, Powley G, Scharer G, Shelnutt S, Tokita M, Mehtalia SS, Oriol A, Papadopoulos S, Perry J, Rosales E, Sanford E, Schwartz S, Tran D, Reese MG, Wright M, Veeraraghavan N, Wigby K, Willis MJ, Wolen AR, Defay T. Kingsmore SF, et al. Among authors: oriol a. Am J Hum Genet. 2023 Jun 1;110(6):1017. doi: 10.1016/j.ajhg.2023.05.004. Am J Hum Genet. 2023. PMID: 37267897 Free PMC article. No abstract available.
A genome sequencing system for universal newborn screening, diagnosis, and precision medicine for severe genetic diseases.
Kingsmore SF, Smith LD, Kunard CM, Bainbridge M, Batalov S, Benson W, Blincow E, Caylor S, Chambers C, Del Angel G, Dimmock DP, Ding Y, Ellsworth K, Feigenbaum A, Frise E, Green RC, Guidugli L, Hall KP, Hansen C, Hobbs CA, Kahn SD, Kiel M, Van Der Kraan L, Krilow C, Kwon YH, Madhavrao L, Le J, Lefebvre S, Mardach R, Mowrey WR, Oh D, Owen MJ, Powley G, Scharer G, Shelnutt S, Tokita M, Mehtalia SS, Oriol A, Papadopoulos S, Perry J, Rosales E, Sanford E, Schwartz S, Tran D, Reese MG, Wright M, Veeraraghavan N, Wigby K, Willis MJ, Wolen AR, Defay T. Kingsmore SF, et al. Among authors: oriol a. Am J Hum Genet. 2022 Sep 1;109(9):1605-1619. doi: 10.1016/j.ajhg.2022.08.003. Epub 2022 Aug 24. Am J Hum Genet. 2022. PMID: 36007526 Free PMC article. Review.
An RCT of Rapid Genomic Sequencing among Seriously Ill Infants Results in High Clinical Utility, Changes in Management, and Low Perceived Harm.
Dimmock DP, Clark MM, Gaughran M, Cakici JA, Caylor SA, Clarke C, Feddock M, Chowdhury S, Salz L, Cheung C, Bird LM, Hobbs C, Wigby K, Farnaes L, Bloss CS, Kingsmore SF; RCIGM Investigators. Dimmock DP, et al. Am J Hum Genet. 2020 Nov 5;107(5):942-952. doi: 10.1016/j.ajhg.2020.10.003. Am J Hum Genet. 2020. PMID: 33157007 Free PMC article. Clinical Trial.
An automated 13.5 hour system for scalable diagnosis and acute management guidance for genetic diseases.
Owen MJ, Lefebvre S, Hansen C, Kunard CM, Dimmock DP, Smith LD, Scharer G, Mardach R, Willis MJ, Feigenbaum A, Niemi AK, Ding Y, Van Der Kraan L, Ellsworth K, Guidugli L, Lajoie BR, McPhail TK, Mehtalia SS, Chau KK, Kwon YH, Zhu Z, Batalov S, Chowdhury S, Rego S, Perry J, Speziale M, Nespeca M, Wright MS, Reese MG, De La Vega FM, Azure J, Frise E, Rigby CS, White S, Hobbs CA, Gilmer S, Knight G, Oriol A, Lenberg J, Nahas SA, Perofsky K, Kim K, Carroll J, Coufal NG, Sanford E, Wigby K, Weir J, Thomson VS, Fraser L, Lazare SS, Shin YH, Grunenwald H, Lee R, Jones D, Tran D, Gross A, Daigle P, Case A, Lue M, Richardson JA, Reynders J, Defay T, Hall KP, Veeraraghavan N, Kingsmore SF. Owen MJ, et al. Among authors: oriol a. Nat Commun. 2022 Jul 26;13(1):4057. doi: 10.1038/s41467-022-31446-6. Nat Commun. 2022. PMID: 35882841 Free PMC article.
Diagnosis of genetic diseases in seriously ill children by rapid whole-genome sequencing and automated phenotyping and interpretation.
Clark MM, Hildreth A, Batalov S, Ding Y, Chowdhury S, Watkins K, Ellsworth K, Camp B, Kint CI, Yacoubian C, Farnaes L, Bainbridge MN, Beebe C, Braun JJA, Bray M, Carroll J, Cakici JA, Caylor SA, Clarke C, Creed MP, Friedman J, Frith A, Gain R, Gaughran M, George S, Gilmer S, Gleeson J, Gore J, Grunenwald H, Hovey RL, Janes ML, Lin K, McDonagh PD, McBride K, Mulrooney P, Nahas S, Oh D, Oriol A, Puckett L, Rady Z, Reese MG, Ryu J, Salz L, Sanford E, Stewart L, Sweeney N, Tokita M, Van Der Kraan L, White S, Wigby K, Williams B, Wong T, Wright MS, Yamada C, Schols P, Reynders J, Hall K, Dimmock D, Veeraraghavan N, Defay T, Kingsmore SF. Clark MM, et al. Among authors: oriol a. Sci Transl Med. 2019 Apr 24;11(489):eaat6177. doi: 10.1126/scitranslmed.aat6177. Sci Transl Med. 2019. PMID: 31019026 Free PMC article.
Automated prioritization of sick newborns for whole genome sequencing using clinical natural language processing and machine learning.
Peterson B, Hernandez EJ, Hobbs C, Malone Jenkins S, Moore B, Rosales E, Zoucha S, Sanford E, Bainbridge MN, Frise E, Oriol A, Brunelli L, Kingsmore SF, Yandell M. Peterson B, et al. Among authors: oriol a. Genome Med. 2023 Mar 16;15(1):18. doi: 10.1186/s13073-023-01166-7. Genome Med. 2023. PMID: 36927505 Free PMC article.
The genomic profiling of high-risk smoldering myeloma patients treated with an intensive strategy unveils potential markers of resistance and progression.
Medina-Herrera A, Vazquez I, Cuenca I, Rosa-Rosa JM, Ariceta B, Jimenez C, Fernandez-Mercado M, Larrayoz MJ, Gutierrez NC, Fernandez-Guijarro M, Gonzalez-Calle V, Rodriguez-Otero P, Oriol A, Rosiñol L, Alegre A, Escalante F, De La Rubia J, Teruel AI, De Arriba F, Hernandez MT, Lopez-Jimenez J, Ocio EM, Puig N, Paiva B, Lahuerta JJ, Bladé J, San Miguel JF, Mateos MV, Martinez-Lopez J, Calasanz MJ, Garcia-Sanz R; GEM/PETHEMA (Grupo Español de Mieloma/Programa para el Estudio de la Terapéutica en Hemopatías Malignas) cooperative study group. Medina-Herrera A, et al. Among authors: oriol a. Blood Cancer J. 2024 Apr 29;14(1):74. doi: 10.1038/s41408-024-01053-3. Blood Cancer J. 2024. PMID: 38684670 Free PMC article. Clinical Trial.
Safety and efficacy of belantamab mafodotin with pembrolizumab in patients with relapsed or refractory multiple myeloma.
Suvannasankha A, Bahlis N, Trudel S, Weisel K, Koenecke C, Oriol A, Voorhees PM, Alonso AA, Callander NS, Mateos MV, Reddy N, Hakim S, LaMacchia J, Patel N, Williams D, Jewell RC, Zhou X, Gupta I, Opalinska J, Nooka AK. Suvannasankha A, et al. Among authors: oriol a. Cancer. 2024 Apr 17. doi: 10.1002/cncr.35319. Online ahead of print. Cancer. 2024. PMID: 38630908
An open-label phase 2 study treating patients with first or second relapse of multiple myeloma with carfilzomib, pomalidomide, and dexamethasone (KPd): SELECT study.
Perrot A, Delimpasi S, Spanoudakis E, Frølund U, Belotti A, Oriol A, Moreau P, McFadden I, Xia Q, Arora M, Dimopoulos MA. Perrot A, et al. Among authors: oriol a. Leuk Lymphoma. 2024 Mar 18:1-10. doi: 10.1080/10428194.2024.2322030. Online ahead of print. Leuk Lymphoma. 2024. PMID: 38497533
CD200 genotype is associated with clinical outcome of patients with multiple myeloma.
Gonzalez-Montes Y, Osca-Gelis G, Rodriguez-Romanos R, Villavicencio A, González-Bártulos M, Llopis F, Clapes V, Oriol A, Sureda A, Escoda L, Sarrà J, Garzó A, Lloveras N, Gómez B, Granada I, Gallardo D. Gonzalez-Montes Y, et al. Among authors: oriol a. Front Immunol. 2024 Feb 22;15:1252445. doi: 10.3389/fimmu.2024.1252445. eCollection 2024. Front Immunol. 2024. PMID: 38455039 Free PMC article.
370 results