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Page 1
FUT2 Variants Confer Susceptibility to Familial Otitis Media.
Santos-Cortez RLP, Chiong CM, Frank DN, Ryan AF, Giese APJ, Bootpetch Roberts T, Daly KA, Steritz MJ, Szeremeta W, Pedro M, Pine H, Yarza TKL, Scholes MA, Llanes EGDV, Yousaf S, Friedman N, Tantoco MLC, Wine TM, Labra PJ, Benoit J, Ruiz AG, de la Cruz RAR, Greenlee C, Yousaf A, Cardwell J, Nonato RMA, Ray D, Ong KMC, So E, Robertson CE, Dinwiddie J, Lagrana-Villagracia SM; University of Washington Center for Mendelian Genomics (UWCMG); Gubbels SP, Shaikh RS, Cass SP, Einarsdottir E, Lee NR, Schwartz DA, Gloria-Cruz TLI, Bamshad MJ, Yang IV, Kere J, Abes GT, Prager JD, Riazuddin S, Chan AL, Yoon PJ, Nickerson DA, Cutiongco-de la Paz EM, Streubel SO, Reyes-Quintos MRT, Jenkins HA, Mattila P, Chan KH, Mohlke KL, Leal SM, Hafrén L, Chonmaitree T, Sale MM, Ahmed ZM. Santos-Cortez RLP, et al. Am J Hum Genet. 2018 Nov 1;103(5):679-690. doi: 10.1016/j.ajhg.2018.09.010. Epub 2018 Oct 25. Am J Hum Genet. 2018. PMID: 30401457 Free PMC article.
Methylation changes in the peripheral blood of Filipinos with type 2 diabetes suggest spurious transcription initiation at TXNIP.
Albao DS, Cutiongco-de la Paz EM, Mercado ME, Lirio A, Mariano M, Kim S, Yangco A, Melegrito J, Wad-Asen K, Gauran II, Francisco MA, Santos-Acuin C, David-Padilla C, Murphy EJ, Paz-Pacheco E, Seielstad M. Albao DS, et al. Hum Mol Genet. 2019 Dec 15;28(24):4208-4218. doi: 10.1093/hmg/ddz262. Hum Mol Genet. 2019. PMID: 31691802
A2ML1 and otitis media: novel variants, differential expression, and relevant pathways.
Larson ED, Magno JPM, Steritz MJ, Llanes EGDV, Cardwell J, Pedro M, Roberts TB, Einarsdottir E, Rosanes RAQ, Greenlee C, Santos RAP, Yousaf A, Streubel SO, Santos ATR, Ruiz AG, Lagrana-Villagracia SM, Ray D, Yarza TKL, Scholes MA, Anderson CB, Acharya A; University of Washington Center for Mendelian Genomics; Gubbels SP, Bamshad MJ, Cass SP, Lee NR, Shaikh RS, Nickerson DA, Mohlke KL, Prager JD, Cruz TLG, Yoon PJ, Abes GT, Schwartz DA, Chan AL, Wine TM, Cutiongco-de la Paz EM, Friedman N, Kechris K, Kere J, Leal SM, Yang IV, Patel JA, Tantoco MLC, Riazuddin S, Chan KH, Mattila PS, Reyes-Quintos MRT, Ahmed ZM, Jenkins HA, Chonmaitree T, Hafrén L, Chiong CM, Santos-Cortez RLP. Larson ED, et al. Hum Mutat. 2019 Aug;40(8):1156-1171. doi: 10.1002/humu.23769. Epub 2019 May 21. Hum Mutat. 2019. PMID: 31009165 Free PMC article.
Lack of Methylation Changes in GJB2 and RB1 Non-coding Regions of Cochlear Implant Patients with Sensorineural Hearing Loss.
Sumalde AAM, Yang IV, Yarza TKL, Tobias-Grasso CAM, Tantoco MLC, Davidson E, Chan AL, Azamian MS, Cruz TLG, Lalani SR, Reyes-Quintos MRT, Cutiongco-de la Paz EM, Santos-Cortez RLP, Chiong CM. Sumalde AAM, et al. Among authors: cutiongco de la paz em. Acta Med Philipp. 2023 Sep 28;57(9):116-120. doi: 10.47895/amp.v57i9.5200. Acta Med Philipp. 2023. PMID: 37990697 Free PMC article.
Exome sequencing reveals novel variants and unique allelic spectrum for hearing impairment in Filipino cochlear implantees.
Truong BT, Yarza TKL, Bootpetch Roberts T, Roberts S, Xu J, Steritz MJ, Tobias-Grasso CAM, Azamian M, Lalani SR, Mohlke KL, Lee NR, Cutiongco-de la Paz EM, Reyes-Quintos MRT, Santos-Cortez RLP, Chiong CM. Truong BT, et al. Clin Genet. 2019 May;95(5):634-636. doi: 10.1111/cge.13515. Epub 2019 Mar 4. Clin Genet. 2019. PMID: 30828794 Free PMC article.
Rare A2ML1 variants confer susceptibility to otitis media.
Santos-Cortez RL, Chiong CM, Reyes-Quintos MR, Tantoco ML, Wang X, Acharya A, Abbe I, Giese AP, Smith JD, Allen EK, Li B, Cutiongco-de la Paz EM, Garcia MC, Llanes EG, Labra PJ, Gloria-Cruz TL, Chan AL, Wang GT, Daly KA, Shendure J, Bamshad MJ, Nickerson DA, Patel JA, Riazuddin S, Sale MM; University of Washington Center for Mendelian Genomics; Chonmaitree T, Ahmed ZM, Abes GT, Leal SM. Santos-Cortez RL, et al. Nat Genet. 2015 Aug;47(8):917-20. doi: 10.1038/ng.3347. Epub 2015 Jun 29. Nat Genet. 2015. PMID: 26121085 Free PMC article.
Evidence of TAF1 dysfunction in peripheral models of X-linked dystonia-parkinsonism.
Domingo A, Amar D, Grütz K, Lee LV, Rosales R, Brüggemann N, Jamora RD, Cutiongco-Dela Paz E, Rolfs A, Dressler D, Walter U, Krainc D, Lohmann K, Shamir R, Klein C, Westenberger A. Domingo A, et al. Cell Mol Life Sci. 2016 Aug;73(16):3205-15. doi: 10.1007/s00018-016-2159-4. Epub 2016 Feb 15. Cell Mol Life Sci. 2016. PMID: 26879577
38 results