Regie Lyn Santos-Cortez, MD, PhD

Professional Titles

• Associate Professor

Recognitions

• Honorary Fellow, Philippine Society of Otolaryngology Head and Neck Surgery (2019)
• Elected Member, Collegium Oto-Rhino-Laryngologicum Amicitiae Sacrum (2018)
• Collette Ramsey Baker Research Award, Hearing Health Foundation (2012)
• Balik-Scientist Awardee, Philippine Council for Health Research and Development (2016)
• National Awardee for Research, The University of the Philippines Medical Alumni Society in America (UPMASA) (2022)

Research Interests

Dr. Regie Santos-Cortez is an Associate Professor performing basic and translational research in the Department of Otolaryngology-Head and Neck Surgery. Her lab performs genomic analyses to identify common and rare variants that modulate susceptibility to several otolaryngologic diseases, including hearing loss and otitis media. Functional support for these variants is obtained by multi-omic studies that are performed in-house or through collaboration. The knowledge gained from these studies will help support risk screening, diagnosis and development of treatment protocols or new therapies for otolaryngologic diseases.

Publications

• Santos-Cortez RL, Reyes-Quintos MR, Tantoco ML, Abbe I, Llanes EG, Ajami NJ, Hutchinson DS, Petrosino JF, Padilla CD, Villarta RL Jr, 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 Nov;155(5):856-862. PubMed PMID: 27484237
• Santos-Cortez RL, Hutchinson DS, Ajami NJ, Reyes-Quintos MR, Tantoco ML, Labra PJ, Lagrana SM, Pedro M, Llanes EG, Gloria-Cruz TL, Chan AL, Cutiongco-de la Paz EM, Belmont JW, Chonmaitree T, Abes GT, Petrosino JF, Leal SM, Chiong CM. Middle ear microbiome differences in indigenous Filipinos with chronic otitis media due to a duplication in the A2ML1 gene. Infect Dis Poverty. 2016 Nov 1;5(1):97. PubMed PMID: 27799062
• van 't Hof FN, Ruigrok YM, Lee CH, Ripke S, Anderson G, de Andrade M, Baas AF, Blankensteijn JD, Böttinger EP, Bown MJ, Broderick J, Bijlenga P, Carrell DS, Crawford DC, Crosslin DR, Ebeling C, Eriksson JG, Fornage M, Foroud T, von Und Zu Fraunberg M, Friedrich CM, Gaál EI, Gottesman O, Guo DC, Harrison SC, Hernesniemi J, Hofman A, Inoue I, Jääskeläinen JE, Jones GT, Kiemeney LA, Kivisaari R, Ko N, Koskinen S, Kubo M, Kullo IJ, Kuivaniemi H, Kurki MI, Laakso A, Lai D, Leal SM, Lehto H, LeMaire SA, Low SK, Malinowski J, McCarty CA, Milewicz DM, Mosley TH, Nakamura Y, Nakaoka H, Niemelä M, Pacheco J, Peissig PL, Pera J, Rasmussen-Torvik L, Ritchie MD, Rivadeneira F, van Rij AM, Santos-Cortez RL, Saratzis A, Slowik A, Takahashi A, Tromp G, Uitterlinden AG, Verma SS, Vermeulen SH, Wang GT, Han B, Rinkel GJ, de Bakker PI. Shared Genetic Risk Factors of Intracranial, Abdominal, and Thoracic Aneurysms. J Am Heart Assoc. 2016 Jul 14;5(7). PubMed PMID: 27418160
• Rehman AU, Bird JE, Faridi R, Shahzad M, Shah S, Lee K, Khan SN, Imtiaz A, Ahmed ZM, Riazuddin S, Santos-Cortez RL, Ahmad W, Leal SM, Riazuddin S, Friedman TB. Mutational Spectrum of MYO15A and the Molecular Mechanisms of DFNB3 Human Deafness. Hum Mutat. 2016 Oct;37(10):991-1003. PubMed PMID: 27375115
• Lebeko K, Sloan-Heggen CM, Noubiap JJ, Dandara C, Kolbe DL, Ephraim SS, Booth KT, Azaiez H, Santos-Cortez RL, Leal SM, Smith RJ, Wonkam A. Targeted genomic enrichment and massively parallel sequencing identifies novel nonsyndromic hearing impairment pathogenic variants in Cameroonian families. Clin Genet. 2016 Sep;90(3):288-90. PubMed PMID: 27246798
• 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 RL, 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. PubMed PMID: 26880286
• 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 1;126(3):948-61. PubMed PMID: 26854927
• 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. PubMed PMID: 26838787
• Ahmad F, Ahmed I, Nasir A, Umair M, Shahzad S, Muhammad D, Santos-Cortez RLP, Leal SM, Ahmad W. Disease-causing novel missense variant in the ST14 gene underlies autosomal recessive ichthyosis with hypotrichosis syndrome in a consanguineous family. Eur J Dermatol, accepted
• Santos-Cortez RL, Faridi R, Rehman AU, Lee K, Ansar M, Wang X, Morell RJ, Isaacson R, Belyantseva IA, Dai H, Acharya A, Qaiser TA, Muhammad D, Ali RA, Shams S, Hassan MJ, Shahzad S, Raza SI, Bashir ZE, Smith JD, Nickerson DA, Bamshad MJ, Riazuddin S, Ahmad W, Friedman TB, Leal SM. Autosomal-Recessive Hearing Impairment Due to Rare Missense Variants within S1PR2. Am J Hum Genet. 2016 Feb 4;98(2):331-8. PubMed PMID: 26805784
• 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 Aug;24(8):1223-7. PubMed PMID: 26695873
• Ahmad F, Ansar M, Mehmood S, Izoduwa A, Lee K, Nasir A, Abrar M, Mehmood S, Ullah A, Aziz A, Smith JD, Shendure J, Bamshad MJ, Nicekrson DA, Santos-Cortez RL, Leal SM, Ahmad W. A novel missense variant in the PNPLA1 gene underlies congenital ichthyosis in three consanguineous families. J Eur Acad Dermatol Venereol. 2016 Dec;30(12):e210-e213. PubMed PMID: 26691440
• 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 Jun;89(6):719-23. PubMed PMID: 26621581
• Ullah R, Ansar M, Durrani ZU, Lee K, Santos-Cortez RL, Muhammad D, Ali M, Zia M, Ayub M, Khan S, Smith JD, Nickerson DA, Shendure J, Bamshad M, Leal SM, Ahmad W. Novel mutations in the genes TGM1 and ALOXE3 underlying autosomal recessive congenital ichthyosis. Int J Dermatol. 2016 May;55(5):524-30. PubMed PMID: 26578203
• 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, 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. FUT2 Variants Confer Susceptibility to Familial Otitis Media. Am J Hum Genet. 2018 Nov 1;103(5):679-690. PubMed PMID: 30401457
• Schrauwen I, Giese AP, Aziz A, Lafont DT, Chakchouk I, Santos-Cortez RLP, Lee K, Acharya A, Khan FS, Ullah A, Nickerson DA, Bamshad MJ, Ali G, Riazuddin S, Ansar M, Ahmad W, Ahmed ZM, Leal SM. FAM92A Underlies Nonsyndromic Postaxial Polydactyly in Humans and an Abnormal Limb and Digit Skeletal Phenotype in Mice. J Bone Miner Res. 2018 Nov 5. [Epub ahead of print] PubMed PMID: 30395363
• 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, Schrauwen I, Khan SN, Morell RJ, Zafar S, Ansar M, Ahmed ZM, Ahmad W, Riazuddin S, Friedman TB, Leal SM, Riazuddin S. Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss. Hum Mutat. 2019 Jan;40(1):53-72. PubMed PMID: 30303587
• 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 Sep 4;59(11):4552-4557. PubMed PMID: 30208423
• Liaqat K, Chiu I, Lee K, Chakchouk I, Andrade-Elizondo PB, Santos-Cortez RLP, Hussain S, Nawaz S, Ansar M, Khan MN, Basit S, Schrauwen I, Ahmad W, Leal SM. Novel missense and 3'-UTR splice site variants in LHFPL5 cause autosomal recessive nonsyndromic hearing impairment. J Hum Genet. 2018 Nov;63(11):1099-1107. PubMed PMID: 30177809
• 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. PubMed PMID: 30167849
• Chiong CM, Reyes-Quintos MRT, Yarza TKL, Tobias-Grasso CAM, Acharya A, Leal SM, Mohlke KL, Mayol NL, Cutiongco-de la Paz EM, Santos-Cortez RLP. The SLC26A4 c.706C>G (p.Leu236Val) Variant is a Frequent Cause of Hearing Impairment in Filipino Cochlear Implantees. Otol Neurotol. 2018 Sep;39(8):e726-e730. PubMed PMID: 30113565
• la Paz EMC, Pedro M, Yarza TKL, Lagrana-Villagracia SM, Amoranto AJP, Jover EJM, Domine MTB, Chiong CM, Santos-Cortez RLP. Genetic counseling in an indigenous Filipino community with a high prevalence of A2ML1-related otitis media. J Community Genet. 2019 Jan;10(1):143-151. PubMed PMID: 29949068
• Ahmad F, Ahmed I, Nasir A, Umair M, Shahzad S, Muhammad D, Santos-Cortez RLP, Leal SM, Ahmad W. A disease-causing novel missense mutation in the ST14 gene underlies autosomal recessive ichthyosis with hypotrichosis syndrome in a consanguineous family. Eur J Dermatol. 2018 Apr 1;28(2):209-216. PubMed PMID: 29611532
• 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 Feb;178(2):556-558. PubMed PMID: 28504827
• Truong BT, Yarza TKL, Bootpetch Roberts T, Roberts S, Xu J, Tobias-Grasso CAM, Lalani SR, Azamian M, 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, accepted.
• 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. Delineation of a Human Mendelian Disorder of the DNA Demethylation Machinery: TET3 Deficiency. Am J Hum Genet. 2020 Jan 3. [Epub ahead of print] PubMed PMID: 31928709
• Wiesen BM, Hafrén L, Einarsdottir E, Kere J, Mattila PS, Santos-Cortez RLP. ABO Genotype and Blood Type Are Associated with Otitis Media. Genet Test Mol Biomarkers. 2019 Nov;23(11):823-827. PubMed PMID: 31693456
• Chakchouk I, Zhang D, Zhang Z, Francioli LC, Santos-Cortez RLP, Schrauwen I, Leal SM. Disparities in discovery of pathogenic variants for autosomal recessive non-syndromic hearing impairment by ancestry. Eur J Hum Genet. 2019 Sep;27(9):1456-1465. PubMed PMID: 31053783
• 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, Hafrén L, Chiong CM, Santos-Cortez RLP. A2ML1 and otitis media: novel variants, differential expression, and relevant pathways. Hum Mutat. 2019 Aug;40(8):1156-1171. PubMed PMID: 31009165
• Ullah I, Kakar N, Schrauwen I, Hussain S, Chakchouk I, Liaqat K, Acharya A, Wasif N, Santos-Cortez RLP, Khan S, Aziz A, Lee K, Couthouis J, Horn D, Kragesteen BK, Spielmann M, Thiele H, Nickerson DA, Bamshad MJ, Gitler AD, Ahmad J, Ansar M, Borck G, Ahmad W, Leal SM. Variants in KIAA0825 underlie autosomal recessive postaxial polydactyly. Hum Genet. 2019 Jun;138(6):593-600. PubMed PMID: 30982135
• 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 May;95(5):634-636. PubMed PMID: 30828794
• Schrauwen I, Giese AP, Aziz A, Lafont DT, Chakchouk I, Santos-Cortez RLP, Lee K, Acharya A, Khan FS, Ullah A, Nickerson DA, Bamshad MJ, Ali G, Riazuddin S, Ansar M, Ahmad W, Ahmed ZM, Leal SM. FAM92A Underlies Nonsyndromic Postaxial Polydactyly in Humans and an Abnormal Limb and Digit Skeletal Phenotype in Mice. J Bone Miner Res. 2019 Feb;34(2):375-386. PubMed PMID: 30395363
• 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, Schrauwen I, Khan SN, Morell RJ, Zafar S, Ansar M, Ahmed ZM, Ahmad W, Riazuddin S, Friedman TB, Leal SM, Riazuddin S. Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss. Hum Mutat. 2019 Jan;40(1):53-72. PubMed PMID: 30303587
• Santos-Cortez RLP, Bhutta MF, Earl JP, Hafrén L, Jennings M, Mell JC, Pichichero ME, Ryan AF, Tateossian H, Ehrlich GD. Panel 3: Genomics, precision medicine and targeted therapies. Int J Pediatr Otorhinolaryngol. 2019 Dec 24;:109835. [Epub ahead of print] PubMed PMID: 32007292
• Baschal EE, Larson ED, Bootpetch Roberts TC, Pathak S, Frank G, Handley E, Dinwiddie J, Moloney M, Yoon PJ, Gubbels SP, Scholes MA, Cass SP, Jenkins HA, Frank DN, Yang IV, Schwartz DA, Ramakrishnan VR, Santos-Cortez RLP. Identification of Novel Genes and Biological Pathways That Overlap in Infectious and Nonallergic Diseases of the Upper and Lower Airways Using Network Analyses. Front Genet. 2019;10:1352. PubMed PMID: 32010199
• la Paz EMC, Pedro M, Yarza TKL, Lagrana-Villagracia SM, Amoranto AJP, Jover EJM, Domine MTB, Chiong CM, Santos-Cortez RLP. Genetic counseling in an indigenous Filipino community with a high prevalence of A2ML1-related otitis media. J Community Genet. 2019 Jan;10(1):143-151. PubMed PMID: 29949068
• Wiesen BM, Hafrén L, Einarsdottir E, Kere J, Mattila PS, Santos-Cortez RLP. ABO Genotype and Blood Type Are Associated with Otitis Media. Genet Test Mol Biomarkers. 2019 Nov;23(11):823-827. PubMed PMID: 31693456
• 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 May;95(5):634-636. PubMed PMID: 30828794
• 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, Hafrén L, Chiong CM, Santos-Cortez RLP. A2ML1 and otitis media: novel variants, differential expression, and relevant pathways. Hum Mutat. 2019 Aug;40(8):1156-1171. PubMed PMID: 31009165
• 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, 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. Multi-omic studies on missense PLG variants in families with otitis media. Sci Rep. 2020 Sep 14;10(1):15035. PubMed PMID: 32929111
• 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. 2020 Jul 24:jmedgenet-2020-106844. doi: 10.1136/jmedgenet-2020-106844. Online ahead of print. PubMed PMID: 32709676
• Yoon PJ, Sumalde AAM, Ray DC, Newton S, Cass SP, Chan KH, Santos-Cortez RLP. Novel Variants in Hearing Loss Genes and Associations With Audiometric Thresholds in a Multi-ethnic Cohort of US Patients With Cochlear Implants. Otol Neurotol. 2020 Aug;41(7):978-985. PubMed PMID: 32658404
• Santos-Cortez RLP, Bhutta MF, Earl JP, Hafrén L, Jennings M, Mell JC, Pichichero ME, Ryan AF, Tateossian H, Ehrlich GD. Panel 3: Genomics, precision medicine and targeted therapies. Int J Pediatr Otorhinolaryngol. 2020 Mar;130 Suppl 1:109835. PubMed PMID: 32007292
• 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. Delineation of a Human Mendelian Disorder of the DNA Demethylation Machinery: TET3 Deficiency. Am J Hum Genet. 2020 Feb 6;106(2):234-245. PubMed PMID: 31928709
• Baschal EE, Larson ED, Bootpetch Roberts TC, Pathak S, Frank G, Handley E, Dinwiddie J, Moloney M, Yoon PJ, Gubbels SP, Scholes MA, Cass SP, Jenkins HA, Frank DN, Yang IV, Schwartz DA, Ramakrishnan VR, Santos-Cortez RLP. Identification of Novel Genes and Biological Pathways That Overlap in Infectious and Nonallergic Diseases of the Upper and Lower Airways Using Network Analyses. Front Genet. 2020;10:1352. PubMed PMID: 32010199
• Santos-Cortez RLP, Ehrlich GD, Ryan AF. Editorial: Otitis Media Genomics and the Middle Ear Microbiome. Front Genet. 2021;12:763688. PubMed PMID: 34712274
• 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. The role of CDHR3 in susceptibility to otitis media. J Mol Med (Berl). 2021 Nov;99(11):1571-1583. PubMed PMID: 34322716
• Santos-Cortez RLP, Yarza TKL, Bootpetch TC, Tantoco MLC, Mohlke KL, Cruz TLG, Chiong Perez ME, Chan AL, Lee NR, Tobias-Grasso CAM, Reyes-Quintos MRT, Cutiongco-de la Paz EM, Chiong CM. Identification of Novel Candidate Genes and Variants for Hearing Loss and Temporal Bone Anomalies. Genes (Basel). 2021 Apr 13;12(4). PubMed PMID: 33924653
• 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 Jul;58(7):442-452. PubMed PMID: 32709676
• 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 Oct;25(10):1155-1161. PubMed PMID: 28905881
• Santos-Cortez RLP, Ong KMC, Carlos-Hiceta A, Tantoco MLC, Yarza TKL, San Agustin ML, Pedro M, Cruz TLG, Cutiongco-de la Paz EM, Abes GT, Llanes EGDV, Chan AL, Chiong CM, Reyes-Quintos MRT. Audiologic Measures in an Indigenous Community with A2ML1- and FUT2-Related Otitis Media. Genet Test Mol Biomarkers. 2023 Jan;27(1):12-17. PubMed PMID: 36719978
• Lee NK, Cass SP, Gubbels SP, Gomez HZ, Scholes MA, Jenkins HA, Santos-Cortez RLP. Novel candidate genes for cholesteatoma in chronic otitis media. Front Genet. 2022;13:1033965. PubMed PMID: 36699445
• 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. Microbiota Associated With Cholesteatoma Tissue in Chronic Suppurative Otitis Media. Front Cell Infect Microbiol. 2022;12:746428. PubMed PMID: 35521215
• Elling CL, Scholes MA, Streubel SO, Larson ED, Wine TM, Bootpetch TC, Yoon PJ, Kofonow JM, Gubbels SP, Cass SP, Robertson CE, Jenkins HA, Prager JD, Frank DN, Chan KH, Friedman NR, Ryan AF, Santos-Cortez RLP. The FUT2 Variant c.461G>A (p.Trp154*) Is Associated With Differentially Expressed Genes and Nasopharyngeal Microbiota Shifts in Patients With Otitis Media. Front Cell Infect Microbiol. 2021;11:798246. PubMed PMID: 35096646
• Bharadwaj T, Schrauwen I, Rehman S, Liaqat K, Acharya A, Giese APJ, Nouel-Saied LM, Nasir A, Everard JL, Pollock LM, Zhu S, Bamshad MJ, Nickerson DA, Ali RH, Ullah A, Wali A, Ali G, Santos-Cortez RLP, Ahmed ZM, McDermott BM Jr, Ansar M, Riazuddin S, Ahmad W, Leal SM. ADAMTS1, MPDZ, MVD, and SEZ6: candidate genes for autosomal recessive nonsyndromic hearing impairment. Eur J Hum Genet. 2022 Jan;30(1):22-33. PubMed PMID: 34135477
• Marom T, Swords WE, Santos-Cortez RLP. Editorial: Otitis media susceptibility due to genetic variants. Front Genet. 2023;14:1341669. PubMed PMID: 38152651
• 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. Lack of Methylation Changes in GJB2 and RB1 Non-coding Regions of Cochlear Implant Patients with Sensorineural Hearing Loss. Acta Med Philipp. 2023 Sep 28;57(9):116-120. PubMed PMID: 37990697
• Malik MA, Saqib MAN, Mientjes E, Acharya A, Alam MR, Wallaard I, Schrauwen I, Bamshad MJ, Santos-Cortez RLP, Elgersma Y, Leal SM, Ansar M. A loss of function variant in AGPAT3 underlies intellectual disability and retinitis pigmentosa (IDRP) syndrome. Eur J Hum Genet. 2023 Dec;31(12):1447-1454. PubMed PMID: 37821758
• Ziniel SI, Preciado D, Lee R, Kerschner JE, Ryan AF, Santos-Cortez RLP. Ensuring the future of otitis media research: Interest in and feasibility of a mentoring network program within the otitis media research community. Int J Pediatr Otorhinolaryngol. 2023 Sep;172:111693. PubMed PMID: 37579520
• Elling CL, Goff SH, Hirsch SD, Tholen K, Kofonow JM, Curtis D, Robertson CE, Prager JD, Yoon PJ, Wine TM, Chan KH, Scholes MA, Friedman NR, Frank DN, Herrmann BW, Santos-Cortez RLP. Otitis Media in Children with Down Syndrome Is Associated with Shifts in the Nasopharyngeal and Middle Ear Microbiotas. Genet Test Mol Biomarkers. 2023 Jul;27(7):221-228. PubMed PMID: 37522794
• 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 Mar 30;14(4). PubMed PMID: 37107589
• Santos-Cortez RLP, Ong KMC, Carlos-Hiceta A, Tantoco MLC, Yarza TKL, San Agustin ML, Pedro M, Cruz TLG, Cutiongco-de la Paz EM, Abes GT, Llanes EGDV, Chan AL, Chiong CM, Reyes-Quintos MRT. Audiologic Measures in an Indigenous Community with A2ML1- and FUT2-Related Otitis Media. Genet Test Mol Biomarkers. 2023 Jan;27(1):12-17. PubMed PMID: 36719978
• Lee NK, Cass SP, Gubbels SP, Gomez HZ, Scholes MA, Jenkins HA, Santos-Cortez RLP. Novel candidate genes for cholesteatoma in chronic otitis media. Front Genet. 2022;13:1033965. PubMed PMID: 36699445
• Lee NK, Santos-Cortez RLP. An overview of the genetic determinants of otitis media susceptibility. In: Goycoolea MV, Selaimen da Costa S, De Souza C, Paparella MM, eds. Otitis media: The basics, further and beyond. Cham, Switzerland: Springer Nature Switzerland AG, 2023.
• Lee NK, Yoon PJ, Santos-Cortez RLP. Chapter 4: Genetics and Hearing. In: Alessio H, Hutchinson Marron K, eds. Chapter 4: Health and Hearing. Singapore: World Scientific Publishing Co, 2023.
• 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). PubMed PMID: 39457448
• 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. PubMed PMID: 39302268
• Lee NK, Uhler KM, Yoon PJ, Santos-Cortez RLP. Clinical Genetic Testing for Hearing Loss: Implications for Genetic Counseling and Gene-Based Therapies. Biomedicines. 2024 Jun 27;12(7). PubMed PMID: 39062005
• Elling CL, Gomez HZ, Lee NK, Hirsch SD, Santos-Cortez RLP. The A2ml1-Knockout mouse as an animal model for non-syndromic otitis media. Int J Pediatr Otorhinolaryngol. 2024 Jun;181:111980. PubMed PMID: 38759260
• Tateossian H, Southern A, Vikhe P, Lana-Elola E, Watson-Scales S, Gibbins D, Williams D, Purnell T, Mburu P, Parker A, Norris DP, Santos-Cortez RLP, Herrmann BW, Wells S, Lad HV, Fisher EMC, Tybulewicz VLJ, Brown SDM. DYRK1A kinase triplication is the major cause of otitis media in Down syndrome. bioRxiv; https://www.biorxiv.org/content/10.1101/2024.10.03.616443v1
• Khan S, Ansar M, Kamal Khan A, Shah K, Muhammad N, Shahzad S, Nickerson DA, Bamshad MJ, Santos-Cortez RLP, Leal SM, Ahmad W. A Homozygous Missense Mutation in SLC25A16 is Associated with Autosomal Recessive Isolated Fingernail Dysplasia in a Pakistani Family. Br J Dermatol. 2017 May 15. [Epub ahead of print] PubMed PMID: 28504827
• 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 Oct;25(10):1155-1161. PubMed PMID: 28905881
• Shah K, Mehmood S, Jan A, Abbe I, Hussain Ali R, Khan A, Chishti MS, Lee K, Ahmad F, Ansar M, Shahzad S, Nickerson DA, Bamshad MJ, Coucke PJ, Santos-Cortez RLP, Spritz RA, Leal SM, Ahmad W. Sequence variants in nine different genes underlying rare skin disorders in 10 consanguineous families. Int J Dermatol. 2017 Dec;56(12):1406-1413. PubMed PMID: 29130490
• Santos-Cortez RLP, Reyes-Quintos MRT, Yarza TKL, Tobias-Grasso CAM, Acharya A, Leal SM, Mohlke K, Mayol NL, Cutiongco-de la Paz EM, Chiong CM. The SLC26A4 c.706C>G (p.Leu236Val) variant is a frequent cause of hearing impairment in Filipino cochlear implantees. 40th Annual ARO Midwinter Meeting, Baltimore, MD, USA, February 11, 2017
• Santos-Cortez RLP, Ong KMC, Nonato RMA, de la Cruz RAR, Labra, PJ, Rosanes RAQ, Llanes EGdV, Chan AL, Tantoco MLC, Reyes-Quintos MRT, Cutiongco-de la Paz EM, Chiong CM. Genetic and health services follow-up in an indigenous population with high prevalence of otitis media. 19th International Symposium on Recent Advances in Otitis Media, Gold Coast, Australia, June 4-8, 2017
• Santos-Cortez RLP, Ong KMC, Reyes-Quintos MRT, Tantoco MLC, Rosanes RAQ, Cutiongco-de la Paz EM, Chiong CM. A2ML1-related otitis media in an indigenous Filipino community. ENT World Congress, Paris, France, June 24-28, 2017

Professional Memberships

• Philippine Society of Otolaryngology-Head and Neck Surgery, Honorary Fellow, Diplomate
• Association for Research in Otolaryngology, Member
• American Society of Human Genetics, Member
• International Society for Otitis Media, Member
• Collegium Oto-Rhino-Laryngologicum Amicitiae Sacrum, Member