Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Results by year

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

Year Number of Results
2010 1
2011 7
2012 4
2013 5
2014 7
2015 11
2016 14
2017 4
2018 10
2019 10
2020 6
2021 6
2022 4
2023 8
2024 4

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

82 results

Results by year

Filters applied: . Clear all
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.
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.
COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis.
Watkin LB, Jessen B, Wiszniewski W, Vece TJ, Jan M, Sha Y, Thamsen M, Santos-Cortez RL, Lee K, Gambin T, Forbes LR, Law CS, Stray-Pedersen A, Cheng MH, Mace EM, Anderson MS, Liu D, Tang LF, Nicholas SK, Nahmod K, Makedonas G, Canter DL, Kwok PY, Hicks J, Jones KD, Penney S, Jhangiani SN, Rosenblum MD, Dell SD, Waterfield MR, Papa FR, Muzny DM, Zaitlen N, Leal SM, Gonzaga-Jauregui C; Baylor-Hopkins Center for Mendelian Genomics; Boerwinkle E, Eissa NT, Gibbs RA, Lupski JR, Orange JS, Shum AK. Watkin LB, et al. Among authors: santos cortez rl. Nat Genet. 2015 Jun;47(6):654-60. doi: 10.1038/ng.3279. Epub 2015 Apr 20. Nat Genet. 2015. PMID: 25894502 Free PMC article.
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.
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.
82 results