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Factors that Influence Treatment Delay for Patients with Breast Cancer.
Padilla-Ruiz M, Zarcos-Pedrinaci I, Rivas-Ruiz F, Téllez T, García-Gutiérrez S, González N, Rivero A, Sarasqueta C, Serrano-Aguilar P, Castells X, Quintana JM, Sala M, Redondo M; REDISSEC-CaMISS Group; Castells X, Comas M, Domingo L, Macià F, Roman M, Romero A, Sala M, Barata T, de la Lastra ID, de la Vega M, Bare M, Torà N, Ferrer J, Castanyer F, Carmona C, García S, Martín M, González N, Orive M, Valverde MA, Saez A, Barredo I, de Toro M, Ferreiro J, Quintana JM, Pérez J, Rivero A, Valcárcel C, Padilla M, Redondo M, Téllez T, Zarcos I, Churruca C, Perales A, Recio J, Ruiz I, Sarasqueta C, Urraca JM, Michelena MJ, Moreno J, Mallabiabarrena G, Cobos P, Otero B, Gorostiaga J, Troya I. Padilla-Ruiz M, et al. Among authors: padilla m. Ann Surg Oncol. 2021 Jul;28(7):3714-3721. doi: 10.1245/s10434-020-09409-2. Epub 2020 Nov 27. Ann Surg Oncol. 2021. PMID: 33247362
Population-scale analysis of common and rare genetic variation associated with hearing loss in adults.
Praveen K, Dobbyn L, Gurski L, Ayer AH, Staples J, Mishra S, Bai Y, Kaufman A, Moscati A, Benner C, Chen E, Chen S, Popov A, Smith J; GHS-REGN DiscovEHR collaboration; Regeneron Genetics Center; Decibel-REGN collaboration; Melander O, Jones MB, Marchini J, Balasubramanian S, Zambrowicz B, Drummond MC, Baras A, Abecasis GR, Ferreira MA, Stahl EA, Coppola G. Praveen K, et al. Commun Biol. 2022 Jun 3;5(1):540. doi: 10.1038/s42003-022-03408-7. Commun Biol. 2022. PMID: 35661827 Free PMC article.
Assessment of genetic susceptibility to multiple primary cancers through whole-exome sequencing in two large multi-ancestry studies.
Cavazos TB, Kachuri L, Graff RE, Nierenberg JL, Thai KK, Alexeeff S, Van Den Eeden S, Corley DA, Kushi LH; Regeneron Genetics Center; Hoffmann TJ, Ziv E, Habel LA, Jorgenson E, Sakoda LC, Witte JS. Cavazos TB, et al. BMC Med. 2022 Oct 6;20(1):332. doi: 10.1186/s12916-022-02535-6. BMC Med. 2022. PMID: 36199081 Free PMC article.
Heterozygosity for a Pathogenic Variant in SLC12A3 That Causes Autosomal Recessive Gitelman Syndrome Is Associated with Lower Serum Potassium.
Wan X, Perry J, Zhang H, Jin F, Ryan KA, Van Hout C, Reid J, Overton J, Baras A, Han Z, Streeten E, Li Y, Mitchell BD, Shuldiner AR, Fu M; Regeneron Genetics Center. Wan X, et al. J Am Soc Nephrol. 2021 Mar;32(3):756-765. doi: 10.1681/ASN.2020071030. Epub 2021 Feb 4. J Am Soc Nephrol. 2021. PMID: 33542107 Free PMC article.
Advancing human genetics research and drug discovery through exome sequencing of the UK Biobank.
Szustakowski JD, Balasubramanian S, Kvikstad E, Khalid S, Bronson PG, Sasson A, Wong E, Liu D, Wade Davis J, Haefliger C, Katrina Loomis A, Mikkilineni R, Noh HJ, Wadhawan S, Bai X, Hawes A, Krasheninina O, Ulloa R, Lopez AE, Smith EN, Waring JF, Whelan CD, Tsai EA, Overton JD, Salerno WJ, Jacob H, Szalma S, Runz H, Hinkle G, Nioi P, Petrovski S, Miller MR, Baras A, Mitnaul LJ, Reid JG; UKB-ESC Research Team. Szustakowski JD, et al. Nat Genet. 2021 Jul;53(7):942-948. doi: 10.1038/s41588-021-00885-0. Epub 2021 Jun 28. Nat Genet. 2021. PMID: 34183854 Review.
GWAS of serum ALT and AST reveals an association of SLC30A10 Thr95Ile with hypermanganesemia symptoms.
Ward LD, Tu HC, Quenneville CB, Tsour S, Flynn-Carroll AO, Parker MM, Deaton AM, Haslett PAJ, Lotta LA, Verweij N, Ferreira MAR; Regeneron Genetics Center; Geisinger-Regeneron DiscovEHR Collaboration; Baras A, Hinkle G, Nioi P. Ward LD, et al. Nat Commun. 2021 Jul 27;12(1):4571. doi: 10.1038/s41467-021-24563-1. Nat Commun. 2021. PMID: 34315874 Free PMC article.
705 results