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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2010 1
2011 5
2012 2
2013 2
2014 5
2015 6
2016 9
2017 1
2018 9
2019 10
2020 6
2021 6
2022 4
2023 8
2024 1

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61 results

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Page 1
Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss.
Richard EM, Santos-Cortez RLP, Faridi R, Rehman AU, Lee K, Shahzad M, Acharya A, Khan AA, Imtiaz A, Chakchouk I, Takla C, Abbe I, Rafeeq M, Liaqat K, Chaudhry T, Bamshad MJ, Nickerson DA; University of Washington Center for Mendelian Genomics; Schrauwen I, Khan SN, Morell RJ, Zafar S, Ansar M, Ahmed ZM, Ahmad W, Riazuddin S, Friedman TB, Leal SM, Riazuddin S. Richard EM, et al. Among authors: santos cortez rlp. Hum Mutat. 2019 Jan;40(1):53-72. doi: 10.1002/humu.23666. Epub 2018 Nov 18. Hum Mutat. 2019. PMID: 30303587 Free PMC article.
Delineation of a Human Mendelian Disorder of the DNA Demethylation Machinery: TET3 Deficiency.
Beck DB, Petracovici A, He C, Moore HW, Louie RJ, Ansar M, Douzgou S, Sithambaram S, Cottrell T, Santos-Cortez RLP, Prijoles EJ, Bend R, Keren B, Mignot C, Nougues MC, Õunap K, Reimand T, Pajusalu S, Zahid M, Saqib MAN, Buratti J, Seaby EG, McWalter K, Telegrafi A, Baldridge D, Shinawi M, Leal SM, Schaefer GB, Stevenson RE, Banka S, Bonasio R, Fahrner JA. Beck DB, et al. Among authors: santos cortez rlp. Am J Hum Genet. 2020 Feb 6;106(2):234-245. doi: 10.1016/j.ajhg.2019.12.007. Epub 2020 Jan 9. Am J Hum Genet. 2020. PMID: 31928709 Free PMC article.
Editorial: Otitis media susceptibility due to genetic variants.
Marom T, Swords WE, Santos-Cortez RLP. Marom T, et al. Among authors: santos cortez rlp. Front Genet. 2023 Dec 12;14:1341669. doi: 10.3389/fgene.2023.1341669. eCollection 2023. Front Genet. 2023. PMID: 38152651 Free PMC article. No abstract available.
Editorial: Otitis Media Genomics and the Middle Ear Microbiome.
Santos-Cortez RLP, Ehrlich GD, Ryan AF. Santos-Cortez RLP, et al. Front Genet. 2021 Oct 12;12:763688. doi: 10.3389/fgene.2021.763688. eCollection 2021. Front Genet. 2021. PMID: 34712274 Free PMC article. No abstract available.
Rare Coding Variants in Patients with Non-Syndromic Vestibular Dysfunction.
Sumalde AAM, Scholes MA, Kalmanson OA, Terhune EA, Frejo L, Wethey CI, Roman-Naranjo P, Carry PM, Gubbels SP, Lopez-Escamez JA, Hadley-Miller N, Santos-Cortez RLP. Sumalde AAM, et al. Among authors: santos cortez rlp. Genes (Basel). 2023 Mar 30;14(4):831. doi: 10.3390/genes14040831. Genes (Basel). 2023. PMID: 37107589 Free PMC article.
Panel 3: Genomics, precision medicine and targeted therapies.
Santos-Cortez RLP, Bhutta MF, Earl JP, Hafrén L, Jennings M, Mell JC, Pichichero ME, Ryan AF, Tateossian H, Ehrlich GD. Santos-Cortez RLP, et al. Int J Pediatr Otorhinolaryngol. 2020 Mar;130 Suppl 1(Suppl 1):109835. doi: 10.1016/j.ijporl.2019.109835. Epub 2019 Dec 24. Int J Pediatr Otorhinolaryngol. 2020. PMID: 32007292 Free PMC article. Review.
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.
The role of CDHR3 in susceptibility to otitis media.
Hirsch SD, Elling CL, Bootpetch TC, Scholes MA, Hafrén L, Streubel SO, Pine HS, Wine TM, Szeremeta W, Prager JD, Einarsdottir E, Yousaf A, Baschal EE, Rehman S, Bamshad MJ, Nickerson DA, Riazuddin S, Leal SM, Ahmed ZM, Yoon PJ, Kere J, Chan KH, Mattila PS, Friedman NR, Chonmaitree T, Frank DN, Ryan AF, Santos-Cortez RLP. Hirsch SD, et al. Among authors: santos cortez rlp. J Mol Med (Berl). 2021 Nov;99(11):1571-1583. doi: 10.1007/s00109-021-02118-7. Epub 2021 Jul 28. J Mol Med (Berl). 2021. PMID: 34322716 Free PMC article.
Multi-omic studies on missense PLG variants in families with otitis media.
Bootpetch TC, Hafrén L, Elling CL, Baschal EE, Manichaikul AW, Pine HS, Szeremeta W, Scholes MA, Cass SP, Larson ED, Chan KH, Ishaq R, Prager JD, Shaikh RS, Gubbels SP, Yousaf A; University of Washington Center for Mendelian Genomics (UW-CMG); Wine TM, Bamshad MJ, Yoon PJ, Jenkins HA, Nickerson DA, Streubel SO, Friedman NR, Frank DN, Einarsdottir E, Kere J, Riazuddin S, Daly KA, Leal SM, Ryan AF, Mattila PS, Ahmed ZM, Sale MM, Chonmaitree T, Santos-Cortez RLP. Bootpetch TC, et al. Among authors: santos cortez rlp. Sci Rep. 2020 Sep 14;10(1):15035. doi: 10.1038/s41598-020-70498-w. Sci Rep. 2020. PMID: 32929111 Free PMC article.
Microbiota Associated With Cholesteatoma Tissue in Chronic Suppurative Otitis Media.
Frank DN, Magno JPM, Velasco KJS, Bootpetch TC, Salud JED, David KJV, Miller AL, Yee EC, Dulnuan HP, Pyles RB, Lacuata JAC, Arbizo JL, Kofonow JM, Guce B, Mendoza KMD, Robertson CE, Ilustre GMS, Chiong ANE, Lu SL, Tongol EA, Sacayan ND, Yarza TKL, Chiong CM, Santos-Cortez RLP. Frank DN, et al. Among authors: santos cortez rlp. Front Cell Infect Microbiol. 2022 Apr 19;12:746428. doi: 10.3389/fcimb.2022.746428. eCollection 2022. Front Cell Infect Microbiol. 2022. PMID: 35521215 Free PMC article.
61 results