 Connection
Regie Lyn Santos-Cortez to Adult
This is a "connection" page, showing publications Regie Lyn Santos-Cortez has written about Adult.
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0.372 |
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Santos-Cortez RLP, Gomez HZ, Elling CL, Mayher L, Diala OR, Gardner C, Willford K, Zamora VC, Agyepong A, Lee NK, Green KK, Darr OA, Wine TM, Francom CR, Larson ED, Gitomer SA, Schell AE, Frank DN, Friedman NR, Herrmann BW. APOBR Is Downregulated in EBV+ Tonsils of Children with Obstructive Sleep-Disordered Breathing. Genes (Basel). 2024 Oct 14; 15(10).
Score: 0.048
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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. Rare Coding Variants in Patients with Non-Syndromic Vestibular Dysfunction. Genes (Basel). 2023 03 30; 14(4).
Score: 0.043
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Frank DN, Giese APJ, Hafren L, Bootpetch TC, Yarza TKL, Steritz MJ, Pedro M, Labra PJ, Daly KA, Tantoco MLC, Szeremeta W, Reyes-Quintos MRT, Ahankoob N, Llanes EGDV, Pine HS, Yousaf S, Ir D, Einarsdottir E, de la Cruz RAR, Lee NR, Nonato RMA, Robertson CE, Ong KMC, Magno JPM, Chiong ANE, Espiritu-Chiong MC, San Agustin ML, Cruz TLG, Abes GT, Bamshad MJ, Cutiongco-de la Paz EM, Kere J, Nickerson DA, Mohlke KL, Riazuddin S, Chan A, Mattila PS, Leal SM, Ryan AF, Ahmed ZM, Chonmaitree T, Sale MM, Chiong CM, Santos-Cortez RLP. Otitis media susceptibility and shifts in the head and neck microbiome due to SPINK5 variants. J Med Genet. 2021 07; 58(7):442-452.
Score: 0.036
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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, 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, Hafr?n L, Chiong CM, Santos-Cortez RLP. A2ML1 and otitis media: novel variants, differential expression, and relevant pathways. Hum Mutat. 2019 08; 40(8):1156-1171.
Score: 0.033
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Santos-Cortez RLP, Khan V, Khan FS, Mughal ZU, Chakchouk I, Lee K, Rasheed M, Hamza R, Acharya A, Ullah E, Saqib MAN, Abbe I, Ali G, Hassan MJ, Khan S, Azeem Z, Ullah I, Bamshad MJ, Nickerson DA, Schrauwen I, Ahmad W, Ansar M, Leal SM. Novel candidate genes and variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability. Hum Genet. 2018 Sep; 137(9):735-752.
Score: 0.031
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Santos-Cortez RLP, Hu Y, Sun F, Benahmed-Miniuk F, Tao J, Kanaujiya JK, Ademola S, Fadiora S, Odesina V, Nickerson DA, Bamshad MJ, Olaitan PB, Oluwatosin OM, Leal SM, Reichenberger EJ. Identification of ASAH1 as a susceptibility gene for familial keloids. Eur J Hum Genet. 2017 10; 25(10):1155-1161.
Score: 0.029
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Santos-Cortez RL, Reyes-Quintos MR, Tantoco ML, Abbe I, Llanes EG, Ajami NJ, Hutchinson DS, Petrosino JF, Padilla CD, Villarta RL, Gloria-Cruz TL, Chan AL, Cutiongco-de la Paz EM, Chiong CM, Leal SM, Abes GT. Genetic and Environmental Determinants of Otitis Media in an Indigenous Filipino Population. Otolaryngol Head Neck Surg. 2016 11; 155(5):856-862.
Score: 0.027
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Santos RL, H?fner FM, Huygen PL, Linder TE, Schinzel AA, Spillmann T, Leal SM. Phenotypic characterization of DFNA24: prelingual progressive sensorineural hearing impairment. Audiol Neurootol. 2006; 11(5):269-75.
Score: 0.013
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Santos RL, Aulchenko YS, Huygen PL, van der Donk KP, de Wijs IJ, Kemperman MH, Admiraal RJ, Kremer H, Hoefsloot LH, Cremers CW. Hearing impairment in Dutch patients with connexin 26 (GJB2) and connexin 30 (GJB6) mutations. Int J Pediatr Otorhinolaryngol. 2005 Feb; 69(2):165-74.
Score: 0.012
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Yousaf A, Yousaf S, Shabbir AS, Yousaf R, Riazuddin S, Shaikh RS, Santos-Cortez RLP, Ahmed ZM. Identification of rare missense variants in the BSN gene co-segregating with chronic otitis media in a consanguineous Pakistani family. Mol Genet Genomic Med. 2024 Sep; 12(9):e2478.
Score: 0.012
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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, ?unap 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. Delineation of a Human Mendelian Disorder of the DNA Demethylation Machinery: TET3 Deficiency. Am J Hum Genet. 2020 02 06; 106(2):234-245.
Score: 0.009
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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. Exome sequencing reveals novel variants and unique allelic spectrum for hearing impairment in Filipino cochlear implantees. Clin Genet. 2019 05; 95(5):634-636.
Score: 0.008
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Latif Z, Chakchouk I, Schrauwen I, Lee K, Santos-Cortez RLP, Abbe I, Acharya A, Jarral A, Ali I, Ullah E, Khan MN, Ali G, Tahir TH, Bamshad MJ, Nickerson DA, Ahmad W, Ansar M, Leal SM. Confirmation of the Role of DHX38 in the Etiology of Early-Onset Retinitis Pigmentosa. Invest Ophthalmol Vis Sci. 2018 09 04; 59(11):4552-4557.
Score: 0.008
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Khan S, Ansar M, Khan AK, Shah K, Muhammad N, Shahzad S, Nickerson DA, Bamshad MJ, Santos-Cortez RLP, Leal SM, Ahmad W. A homozygous missense mutation in SLC25A16 associated with autosomal recessive isolated fingernail dysplasia in a Pakistani family. Br J Dermatol. 2018 02; 178(2):556-558.
Score: 0.007
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Shah K, Ali RH, Ansar M, Lee K, Chishti MS, Abbe I, Li B, Smith JD, Nickerson DA, Shendure J, Coucke PJ, Steyaert W, Bamshad MJ, Santos-Cortez RLP, Leal SM, Ahmad W. Mitral regurgitation as a phenotypic manifestation of nonphotosensitive trichothiodystrophy due to a splice variant in MPLKIP. BMC Med Genet. 2016 Feb 16; 17:13.
Score: 0.007
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Kuang SQ, Medina-Martinez O, Guo DC, Gong L, Regalado ES, Reynolds CL, Boileau C, Jondeau G, Prakash SK, Kwartler CS, Zhu LY, Peters AM, Duan XY, Bamshad MJ, Shendure J, Nickerson DA, Santos-Cortez RL, Dong X, Leal SM, Majesky MW, Swindell EC, Jamrich M, Milewicz DM. FOXE3 mutations predispose to thoracic aortic aneurysms and dissections. J Clin Invest. 2016 Mar 01; 126(3):948-61.
Score: 0.007
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Regalado ES, Guo DC, Santos-Cortez RL, Hostetler E, Bensend TA, Pannu H, Estrera A, Safi H, Mitchell AL, Evans JP, Leal SM, Bamshad M, Shendure J, Nickerson DA, Milewicz DM. Pathogenic FBN1 variants in familial thoracic aortic aneurysms and dissections. Clin Genet. 2016 06; 89(6):719-23.
Score: 0.007
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Guo DC, Regalado ES, Gong L, Duan X, Santos-Cortez RL, Arnaud P, Ren Z, Cai B, Hostetler EM, Moran R, Liang D, Estrera A, Safi HJ, Leal SM, Bamshad MJ, Shendure J, Nickerson DA, Jondeau G, Boileau C, Milewicz DM. LOX Mutations Predispose to Thoracic Aortic Aneurysms and Dissections. Circ Res. 2016 Mar 18; 118(6):928-34.
Score: 0.007
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Ansar M, Jan A, Santos-Cortez RL, Wang X, Suliman M, Acharya A, Habib R, Abbe I, Ali G, Lee K, Smith JD, Nickerson DA, Shendure J, Bamshad MJ, Ahmad W, Leal SM. Expansion of the spectrum of ITGB6-related disorders to adolescent alopecia, dentogingival abnormalities and intellectual disability. Eur J Hum Genet. 2016 08; 24(8):1223-7.
Score: 0.007
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Guo DC, Gong L, Regalado ES, Santos-Cortez RL, Zhao R, Cai B, Veeraraghavan S, Prakash SK, Johnson RJ, Muilenburg A, Willing M, Jondeau G, Boileau C, Pannu H, Moran R, Debacker J, Bamshad MJ, Shendure J, Nickerson DA, Leal SM, Raman CS, Swindell EC, Milewicz DM. MAT2A mutations predispose individuals to thoracic aortic aneurysms. Am J Hum Genet. 2015 Jan 08; 96(1):170-7.
Score: 0.006
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Cecchi AC, Guo D, Ren Z, Flynn K, Santos-Cortez RL, Leal SM, Wang GT, Regalado ES, Steinberg GK, Shendure J, Bamshad MJ, Grotta JC, Nickerson DA, Pannu H, Milewicz DM. RNF213 rare variants in an ethnically diverse population with Moyamoya disease. Stroke. 2014 Nov; 45(11):3200-7.
Score: 0.006
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Guo DC, Regalado E, Casteel DE, Santos-Cortez RL, Gong L, Kim JJ, Dyack S, Horne SG, Chang G, Jondeau G, Boileau C, Coselli JS, Li Z, Leal SM, Shendure J, Rieder MJ, Bamshad MJ, Nickerson DA, Kim C, Milewicz DM. Recurrent gain-of-function mutation in PRKG1 causes thoracic aortic aneurysms and acute aortic dissections. Am J Hum Genet. 2013 Aug 08; 93(2):398-404.
Score: 0.006
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Tariq A, Santos RL, Khan MN, Lee K, Hassan MJ, Ahmad W, Leal SM. Localization of a novel autosomal recessive nonsyndromic hearing impairment locus DFNB65 to chromosome 20q13.2-q13.32. J Mol Med (Berl). 2006 Jun; 84(6):484-90.
Score: 0.003
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Connection Strength
The connection strength for concepts is the sum of the scores for each matching publication.
Publication scores are based on many factors, including how long ago they were written and whether the person is a first or senior author.
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