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Year Number of Results
2014 1
2016 1
2017 1
2020 1
2021 1
2022 3
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Page 1
Germline Cancer Predisposition Variants in Pediatric Rhabdomyosarcoma: A Report From the Children's Oncology Group.
Li H, Sisoudiya SD, Martin-Giacalone BA, Khayat MM, Dugan-Perez S, Marquez-Do DA, Scheurer ME, Muzny D, Boerwinkle E, Gibbs RA, Chi YY, Barkauskas DA, Lo T, Hall D, Stewart DR, Schiffman JD, Skapek SX, Hawkins DS, Plon SE, Sabo A, Lupo PJ. Li H, et al. Among authors: dugan perez s. J Natl Cancer Inst. 2021 Jul 1;113(7):875-883. doi: 10.1093/jnci/djaa204. J Natl Cancer Inst. 2021. PMID: 33372952 Free PMC article.
Whole genome sequence analysis of pulmonary function and COPD in 19,996 multi-ethnic participants.
Zhao X, Qiao D, Yang C, Kasela S, Kim W, Ma Y, Shrine N, Batini C, Sofer T, Taliun SAG, Sakornsakolpat P, Balte PP, Prokopenko D, Yu B, Lange LA, Dupuis J, Cade BE, Lee J, Gharib SA, Daya M, Laurie CA, Ruczinski I, Cupples LA, Loehr LR, Bartz TM, Morrison AC, Psaty BM, Vasan RS, Wilson JG, Taylor KD, Durda P, Johnson WC, Cornell E, Guo X, Liu Y, Tracy RP, Ardlie KG, Aguet F, VanDenBerg DJ, Papanicolaou GJ, Rotter JI, Barnes KC, Jain D, Nickerson DA, Muzny DM, Metcalf GA, Doddapaneni H, Dugan-Perez S, Gupta N, Gabriel S, Rich SS, O'Connor GT, Redline S, Reed RM, Laurie CC, Daviglus ML, Preudhomme LK, Burkart KM, Kaplan RC, Wain LV, Tobin MD, London SJ, Lappalainen T, Oelsner EC, Abecasis GR, Silverman EK, Barr RG; NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium; TOPMed Lung Working Group, Cho MH, Manichaikul A. Zhao X, et al. Among authors: dugan perez s. Nat Commun. 2020 Oct 14;11(1):5182. doi: 10.1038/s41467-020-18334-7. Nat Commun. 2020. PMID: 33057025 Free PMC article.
Genome Sequencing in the Parkinson Disease Clinic.
Hill EJ, Robak LA, Al-Ouran R, Deger J, Fong JC, Vandeventer PJ, Schulman E, Rao S, Saade H, Savitt JM, von Coelln R, Desai N, Doddapaneni H, Salvi S, Dugan-Perez S, Muzny DM, McGuire AL, Liu Z, Gibbs RA, Shaw C, Jankovic J, Shulman LM, Shulman JM. Hill EJ, et al. Among authors: dugan perez s. Neurol Genet. 2022 Jun 9;8(4):e200002. doi: 10.1212/NXG.0000000000200002. eCollection 2022 Aug. Neurol Genet. 2022. PMID: 35747619 Free PMC article.
Accounting for population structure in genetic studies of cystic fibrosis.
Kingston H, Stilp AM, Gordon W, Broome J, Gogarten SM, Ling H, Barnard J, Dugan-Perez S, Ellinor PT, Gabriel S, Germer S, Gibbs RA, Gupta N, Rice K, Smith AV, Zody MC; Cystic Fibrosis Genome Project; NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium, Blackman SM, Cutting G, Knowles MR, Zhou YH, Rosenfeld M, Gibson RL, Bamshad M, Fohner A, Blue EE. Kingston H, et al. Among authors: dugan perez s. HGG Adv. 2022 May 12;3(3):100117. doi: 10.1016/j.xhgg.2022.100117. eCollection 2022 Jul 14. HGG Adv. 2022. PMID: 35647563 Free PMC article.
Polygenic transcriptome risk scores for COPD and lung function improve cross-ethnic portability of prediction in the NHLBI TOPMed program.
Hu X, Qiao D, Kim W, Moll M, Balte PP, Lange LA, Bartz TM, Kumar R, Li X, Yu B, Cade BE, Laurie CA, Sofer T, Ruczinski I, Nickerson DA, Muzny DM, Metcalf GA, Doddapaneni H, Gabriel S, Gupta N, Dugan-Perez S, Cupples LA, Loehr LR, Jain D, Rotter JI, Wilson JG, Psaty BM, Fornage M, Morrison AC, Vasan RS, Washko G, Rich SS, O'Connor GT, Bleecker E, Kaplan RC, Kalhan R, Redline S, Gharib SA, Meyers D, Ortega V, Dupuis J, London SJ, Lappalainen T, Oelsner EC, Silverman EK, Barr RG, Thornton TA, Wheeler HE; TOPMed Lung Working Group, Cho MH, Im HK, Manichaikul A. Hu X, et al. Among authors: dugan perez s. Am J Hum Genet. 2022 May 5;109(5):857-870. doi: 10.1016/j.ajhg.2022.03.007. Epub 2022 Apr 5. Am J Hum Genet. 2022. PMID: 35385699
A t(5;16) translocation is the likely driver of a syndrome with ambiguous genitalia, facial dysmorphism, intellectual disability, and speech delay.
Ozantürk A, Davis EE, Sabo A, Weiss MM, Muzny D, Dugan-Perez S, Sistermans EA, Gibbs RA, Özgül KR, Yalnızoglu D, Serdaroglu E, Dursun A, Katsanis N. Ozantürk A, et al. Among authors: dugan perez s. Cold Spring Harb Mol Case Stud. 2016 Mar;2(2):a000703. doi: 10.1101/mcs.a000703. Cold Spring Harb Mol Case Stud. 2016. PMID: 27148584 Free PMC article.
Whole exome sequencing identifies novel genes for fetal hemoglobin response to hydroxyurea in children with sickle cell anemia.
Sheehan VA, Crosby JR, Sabo A, Mortier NA, Howard TA, Muzny DM, Dugan-Perez S, Aygun B, Nottage KA, Boerwinkle E, Gibbs RA, Ware RE, Flanagan JM. Sheehan VA, et al. Among authors: dugan perez s. PLoS One. 2014 Oct 31;9(10):e110740. doi: 10.1371/journal.pone.0110740. eCollection 2014. PLoS One. 2014. PMID: 25360671 Free PMC article. Clinical Trial.