Search

Your search keyword '"Chiong, Charlotte M."' showing total 36 results
Start Over Author "Chiong, Charlotte M." Publication Year Range Last 10 years
36 results on '"Chiong, Charlotte M."'

4. Student Evaluation of a Learning Enhancement in Anatomy Program (LEAP) during the COVID-19 Pandemic: A Retrospective Study

Author

Tecson III, Jose V., primary, Bundoc, Rafael C., additional, Abdulla, Abdel Jeffri A., additional, Baticulon, Ronnie E., additional, Carillo, Ryner Jose D., additional, Constantino, Christopher S., additional, Dumlao, Karen June P., additional, Genuino, Rowena F., additional, Mantaring, Blesile Suzette S., additional, Pascual, Jose Leonard R., additional, Rubio, Donnel Alexis T., additional, Seng, Kenny S., additional, Taladtad, Florida F., additional, Alip, Sylvia Karina L., additional, Asis, Joannes Luke B., additional, Villacorta, Pio Renato F., additional, and Chiong, Charlotte M., additional

Published
2023
Full Text
View/download PDF

6. List of Contributors

Author

Acosta, Anna M., primary, Acuin, Jose M., additional, Adam, Rodney D., additional, Afroze, Farzana, additional, Ahmed, Nadia, additional, Ahmed, Sabeena, additional, Ahmed, Tahmeed, additional, Ahmed, A.M. Shamsir, additional, Ali, S. Asad, additional, Ali, Ibne K., additional, Alroy, Karen A., additional, Ananthakrishnan, Ashwin N., additional, Ansong, Daniel, additional, Anstead, Gregory M., additional, Appleby, Laura J., additional, Armah, George E., additional, Aronson, Naomi E., additional, Aston, Stephen J., additional, Barnett, Elizabeth D., additional, Bartelt, Luther A., additional, Bates, Imelda, additional, Bausch, Daniel G., additional, Beadling, Charles W., additional, Beeching, Nicholas J., additional, Bennish, Michael L., additional, Bern, Caryn, additional, Bernstein, Wendy B., additional, Bird, Brian H., additional, Bloom, Allyson K., additional, Bodeker, Gerard, additional, Boyer Chammard, Timothée, additional, Bradsher, Robert W., additional, Brooker, Simon J., additional, Brooks, W. Abdullah, additional, Brouqui, Philippe, additional, Brown, Michael, additional, Brown, Michael R., additional, Broyles, Laura N., additional, Bruschi, Fabrizio, additional, Bundy, Donald A.P., additional, Burton, Matthew, additional, Cabrera-Sosa, Luis, additional, Callahan, Michael V., additional, Carapetis, Jonathan R., additional, Cardemil, Cristina V., additional, Carrol, Enitan D., additional, Caswell, Rachel, additional, Caumes, Eric, additional, Cavalheiro, Ana P., additional, Chan, Abner L., additional, Charunwatthana, Prakaykaew, additional, Checkley, Anna M., additional, Chen, Lin H., additional, Chher, Tepirou, additional, Chiong, Charlotte M., additional, Chisti, M. Jobayer, additional, Christiani, David C., additional, Clark, Taryn N., additional, Connor, Bradley A., additional, Conway, Devin J., additional, Cooper, Philip J., additional, Cope, Jennifer R., additional, Coughlin, R. Richard, additional, Coulibaly, Yaya I., additional, Coyle, Christina M., additional, Crozier, Ian, additional, Cunliffe, Nigel A., additional, Cupido, Blanche, additional, Curren, Emily J., additional, Danta, Mark, additional, Day, Nicholas P.J., additional, Debboun, Mustapha, additional, DeFraites, Robert F., additional, Dekumyoy, Paron, additional, del Castillo, Maria, additional, den Hoed, Caroline M., additional, de Silva, Nilanthi, additional, Deye, Gregory, additional, Dillingham, Rebecca A., additional, Drancourt, Michel, additional, Durward, Callum S., additional, Eddleston, Michael, additional, El-Kamary, Samer S., additional, Elshaboury, Ramy H., additional, Endtz, Hubert P., additional, Endy, Timothy P., additional, Fang, Shona C., additional, Fawzi, Wafaie, additional, Feasey, Nicholas A., additional, Field, Vanessa K., additional, Fischer, Marc, additional, Forsyth, Kevin, additional, Fournier, Pierre-Edouard, additional, Friedlander, Arthur M., additional, Furin, Jennifer J., additional, Gandhi, Ronak G., additional, Garcia, Hector H., additional, Garcia, Lynne S., additional, Geretti, Anna Maria, additional, Gikas, Achilleas, additional, Gilman, Robert H., additional, Giri, Sidhartha, additional, Gkika, Meropi, additional, Gordon, Melita A., additional, Gosselin, Richard A., additional, Gotuzzo, Eduardo, additional, Gould, Carolyn V., additional, Graeff-Teixeira, Carlos, additional, Graham, Stephen M., additional, Grant, Alison D., additional, Graybill, John R., additional, Graz, Bertrand, additional, Green, Stephen T., additional, Griffiths, Jeffrey K., additional, Griffiths, Michael J., additional, Gryseels, Bruno, additional, Gubler, Duane J., additional, Guhadasan, Rathi, additional, Hall, Aron J., additional, Hamer, Davidson H., additional, Hand, Robert M., additional, Harley, David, additional, Harris, Jason B., additional, Hassall, Oliver, additional, Hay, Roderick J., additional, Hickey, Patrick, additional, Hill, David R., additional, Hills, Susan L., additional, Hobdell, Martin H., additional, Hochberg, Natasha S., additional, Hopkins, Donald R., additional, Hossain, M. Iqbal, additional, Hotez, Peter J., additional, Howard, Cynthia R., additional, Hu, Victor, additional, Hung, Chien-Ching, additional, Islam, Munirul, additional, Iturriza-Gómara, Miren, additional, Joekes, Elizabeth, additional, Johnston, Victoria, additional, Jose, Jo-Ann, additional, Junghanss, Thomas, additional, Kamgno, Joseph, additional, Kampondeni, Sam, additional, Kang, Gagandeep, additional, Kazanjian, Powel, additional, Keshtkar-Jahromi, Maryam, additional, Keshtkar-Jahromi, Marzieh, additional, Keystone, Jay S., additional, Kim, Arthur Y., additional, Kim, Sung-Han, additional, King, Christopher L., additional, Kittitrakul, Chatporn, additional, Kleine, Christian, additional, Klion, Amy D., additional, Knight, Richard, additional, Koren, Michael, additional, Kottilil, Shyamasundaran, additional, Krause, Peter J., additional, Krishna, Sanjeev, additional, Kuhn, Jens H., additional, Kuipers, Ernst J., additional, LaBeaud, Angelle D., additional, Labra, Patrick John P., additional, Lalloo, David G., additional, Lambert, Saba, additional, Lanternier, Fanny, additional, LaRocque, Regina C., additional, Last, Anna, additional, Lawrenson, John, additional, Le, Thuy, additional, Lee, Keun Hwa, additional, Lewis, David A., additional, Libraty, Daniel H., additional, Lo, Nathan C., additional, Lockwood, Diana N.J., additional, Lockwood, Stephen J., additional, Lommerse, Kinke, additional, López-Vélez, Rogelio, additional, Lortholary, Olivier, additional, Mabey, David, additional, Magill, Alan J., additional, Maguiña, Ciro P., additional, Manji, Hadi, additional, Marks, Michael, additional, Maurin, Max, additional, Mayaud, Philippe, additional, Mayosi, Bongani M., additional, M'baya, Bridon, additional, McCarthy, Matthew W., additional, McCartney, Daniel, additional, McCormick, Joseph B., additional, McKew, Stephen, additional, McLellan, Susan L.F., additional, McMinn, Peter C., additional, Mertz, Gregory, additional, Milner, Danny A., additional, Molyneux, Elizabeth M., additional, Montgomery, Susan P., additional, Moonah, Shannon, additional, Moss, William J., additional, Murrell, K. Darwin, additional, Nanda, Neha, additional, Navarro, Eileen E., additional, Ndayizeye, Leonard, additional, Neafie, Ronald C., additional, Negroni, Ricardo, additional, Nelson, Ann M., additional, Newton, Paul N., additional, Nichol, Stuart T., additional, Norman, Francesca F., additional, Nunes, Marcio R.T., additional, Nutman, Thomas B., additional, Nyirenda, Tonney S., additional, Ochoa, Theresa J., additional, O'Farrell, Nigel, additional, Olayemi, Edeghonghon, additional, Oldfield, Edward C., additional, Omidian, Zahra, additional, Ordaya, Eloy E., additional, Paddock, Christopher D., additional, Paessler, Slobodan, additional, Papanikolaou, Ilias C., additional, Paris, Luc, additional, Parry, Christopher M., additional, Patel, Pragna, additional, Peacock, Sharon J., additional, Peeling, Rosanna W., additional, Persson, Hans, additional, Phillips, Jonathan J., additional, Phillips, Richard O., additional, Poovorawan, Kittiyod, additional, Powers, Ann M., additional, Qamar, Farah Naz, additional, Qureshi, Sonia, additional, Rabe, Ingrid B., additional, Rahman, Atif, additional, Rahmati, Elham, additional, Raizes, Elliot, additional, Ramalho-Ortigao, Marcelo, additional, Raoult, Didier, additional, Rein, Michael F., additional, Retik, Alan B., additional, Reynes, Jean-Marc, additional, Rhatigan, Joseph J., additional, Rickard, Jennifer, additional, Riddle, Mark S., additional, Rimoin, Anne W., additional, Riviello, Robert, additional, Robert, Leon L., additional, Rodrigues, Ema G., additional, Rodriguez, Rubens, additional, Ronald, Allan R., additional, Rosenthal, Benjamin M., additional, Rosmarin, David, additional, Ryan, Edward T., additional, Saavedra, Arturo, additional, Schiaffino, Francesca, additional, Schumacher, Sandra K., additional, Sejvar, James J., additional, Sethi, Aisha, additional, Seung, Kwonjune J., additional, Seydel, Karl B., additional, Shah, Melisa M., additional, Shakoor, Sadia, additional, Shankar, Anuraj H., additional, Sharp, Trueman W., additional, Shin, Sonya S., additional, Shirley, Debbie-Ann, additional, Silachamroon, Udomsak, additional, Smith, Catherine C., additional, Snelling, Thomas L., additional, Solomon, Tom, additional, Staat, Mary Allen, additional, Staples, J. Erin, additional, Steiger, Samantha N., additional, Stewart, Robert C., additional, Stich, August, additional, Strickman, Daniel, additional, Suh, Kathryn N., additional, Suhrbier, Andreas, additional, Sutcliffe, Catherine G., additional, Tappe, Dennis, additional, Taylor, Terrie E., additional, Thanh, Nguyen Tat, additional, Thanh, Nguyen Thi, additional, Thwaites, C. Louise, additional, Thwaites, Guy E., additional, Tiwari, Tejpratap S.P., additional, Tsenempi, Xenia A., additional, Turner, Angus W., additional, van den Broek, Nynke R., additional, van Doorn, H. Rogier, additional, Van Sickels, Nicholas J., additional, Vannier, Edouard, additional, Varda, Briony K., additional, Vasconcelos, Pedro F.C., additional, Vega-López, Francisco, additional, Vietri, Nicholas J., additional, Vinetz, Joseph M., additional, Visvesvara, Govinda S., additional, Vyas, Keyur S., additional, Walsh, Thomas J., additional, Wansbrough-Jones, Mark H., additional, Warraich, Haider J., additional, Warrell, David A., additional, Warrell, Mary J., additional, Watt, George, additional, Wattanagoon, Yupaporn, additional, Watthanakulpanich, Dorn, additional, Weaver, Scott C., additional, Weil, Ana A., additional, Weiss, Louis M., additional, White, Nicholas J., additional, Whitty, Christopher J.M., additional, Wilson, Mary E., additional, Xavier, Ramnik J., additional, Xiao, Lihua, additional, Yoon, In-Kyu, additional, Yu, Hongjie, additional, and Zaidi, Anita K.M., additional

Published
2020
Full Text
View/download PDF

10. Determinants of Acquisition, Persistence, and Clearance of Oncogenic Cervical Human Papillomavirus Infection in the Philippines Using a Multi-Omics Approach: DEFEAT HPV Study Protocol

Author

de Paz-Silava, Sheriah Laine M., primary, Tabios, Ian Kim B., additional, Tantengco, Ourlad Alzeus G., additional, Climacosa, Fresthel Monica M., additional, Velayo, Clarissa L., additional, Lintao, Ryan C. V., additional, Cando, Leslie Faye T., additional, Perias, Glenmarie Angelica S., additional, Idolor, Maria Isabel C., additional, Francisco, Abialbon G., additional, Catral, Charlene Divine M., additional, Chiong, Charlotte M., additional, and Dalmacio, Leslie Michele M., additional

Published
2023
Full Text
View/download PDF

11. Audiologic Measures in an Indigenous Community with A2ML1- and FUT2-Related Otitis Media

Author

Santos-Cortez, Regie Lyn P., primary, Ong, Kimberly Mae C., additional, Carlos-Hiceta, Angeli, additional, Tantoco, Ma. Leah C., additional, Yarza, Talitha Karisse L., additional, San Agustin, Ma. Luz, additional, Pedro, Melquiadesa, additional, Cruz, Teresa Luisa G., additional, Cutiongco-de la Paz, Eva Maria, additional, Abes, Generoso T., additional, Llanes, Erasmo Gonzalo d.V., additional, Chan, Abner L., additional, Chiong, Charlotte M., additional, and Reyes-Quintos, Maria Rina T., additional

Published
2023
Full Text
View/download PDF

14. Microbiota Associated With Cholesteatoma Tissue in Chronic Suppurative Otitis Media

Author

Frank, Daniel N., primary, Magno, Jose Pedrito M., additional, Velasco, Karen Joyce S., additional, Bootpetch, Tori C., additional, Salud, Jacob Ephraim D., additional, David, Kevin Jer V., additional, Miller, Aaron L., additional, Yee, Eljohn C., additional, Dulnuan, Heather P., additional, Pyles, Richard B., additional, Lacuata, Jan Alexeis C., additional, Arbizo, Jeric L., additional, Kofonow, Jennifer M., additional, Guce, Beatrice, additional, Mendoza, Kevin Michael D., additional, Robertson, Charles E., additional, Ilustre, Gabriel Martin S., additional, Chiong, Alessandra Nadine E., additional, Lu, Shi-Long, additional, Tongol, Erik A., additional, Sacayan, Nicole D., additional, Yarza, Talitha Karisse L., additional, Chiong, Charlotte M., additional, and Santos-Cortez, Regie Lyn P., additional

Published
2022
Full Text
View/download PDF

16. Validation of Snort-spit Saliva in Detecting COVID-19 Using RT-PCR and Rapid Antigen Detection Test

Author

CARRILLO, RYNER JOSE, primary, Sarmiento, Abigail D., additional, Ang, Mark Anthony C., additional, Diwa, Michelle H., additional, Dungog, Cecille C., additional, Tan, Daniel I., additional, Lacuata, Jan Alexis C., additional, Salud, Jacob Ephraim D., additional, Lopa, Ramon Antonio B., additional, Velasco, John Mark S., additional, Berba, Regina P., additional, and Chiong, Charlotte M., additional

Published
2021
Full Text
View/download PDF

17. Identification of Novel Candidate Genes and Variants for Hearing Loss and Temporal Bone Anomalies

Author

Santos-Cortez, Regie Lyn P., primary, Yarza, Talitha Karisse L., additional, Bootpetch, Tori C., additional, Tantoco, Ma. Leah C., additional, Mohlke, Karen L., additional, Cruz, Teresa Luisa G., additional, Chiong Perez, Mary Ellen, additional, Chan, Abner L., additional, Lee, Nanette R., additional, Tobias-Grasso, Celina Ann M., additional, Reyes-Quintos, Maria Rina T., additional, Cutiongco-de la Paz, Eva Maria, additional, and Chiong, Charlotte M., additional

Published
2021
Full Text
View/download PDF

19. Direct Saliva versus Conventional Nasopharyngeal Swab qRT-PCR to Diagnose SARS – CoV2: Validity Study

Author

Tee, Michael L., primary, Ubial, Paulyn Jean R., primary, Ranoa, Diana Rose E., primary, Tee, Cherica A., primary, Abrilla, Aedrian A., primary, Trinidad, Lawrence John Paulo L., primary, Chiong, Charlotte M., primary, Berba, Regina P., primary, Carrillo, Ryner Jose D., primary, Lim, Maria Cecilia F., primary, and Dalmacio, Leslie Michelle M., primary

Published
2021
Full Text
View/download PDF

20. Otitis media susceptibility and shifts in the head and neck microbiome due to SPINK5 variants

Author

Frank, Daniel N., primary, Giese, Arnaud P. J., additional, Hafren, Lena, additional, Bootpetch, Tori C., additional, Yarza, Talitha Karisse L., additional, Steritz, Matthew J., additional, Pedro, Melquiadesa, additional, Labra, Patrick John, additional, Daly, Kathleen A., additional, Tantoco, Ma. Leah C., additional, Szeremeta, Wasyl, additional, Reyes-Quintos, Maria Rina T., additional, Ahankoob, Niaz, additional, Llanes, Erasmo Gonzalo d.V., additional, Pine, Harold S., additional, Yousaf, Sairah, additional, Ir, Diana, additional, Einarsdottir, Elisabet, additional, de la Cruz, Rhodieleen Anne R., additional, Lee, Nanette R., additional, Nonato, Rachelle Marie A., additional, Robertson, Charles E., additional, Ong, Kimberly Mae C., additional, Magno, Jose Pedrito M., additional, Chiong, Alessandra Nadine E., additional, Espiritu-Chiong, Ma. Carmina, additional, San Agustin, Maria Luz, additional, Cruz, Teresa Luisa G., additional, Abes, Generoso T., additional, Bamshad, Michael J., additional, Cutiongco-de la Paz, Eva Maria, additional, Kere, Juha, additional, Nickerson, Deborah A., additional, Mohlke, Karen L., additional, Riazuddin, Saima, additional, Chan, Abner, additional, Mattila, Petri S., additional, Leal, Suzanne M., additional, Ryan, Allen F., additional, Ahmed, Zubair M., additional, Chonmaitree, Tasnee, additional, Sale, Michele M., additional, Chiong, Charlotte M., additional, and Santos-Cortez, Regie Lyn P., additional

Published
2020
Full Text
View/download PDF

23. A2ML1and otitis media: novel variants, differential expression, and relevant pathways

Author

Larson, Eric D., primary, Magno, Jose Pedrito M., additional, Steritz, Matthew J., additional, Llanes, Erasmo Gonzalo d.V., additional, Cardwell, Jonathan, additional, Pedro, Melquiadesa, additional, Roberts, Tori Bootpetch, additional, Einarsdottir, Elisabet, additional, Rosanes, Rose Anne Q., additional, Greenlee, Christopher, additional, Santos, Rachel Ann P., additional, Yousaf, Ayesha, additional, Streubel, Sven‐Olrik, additional, Santos, Aileen Trinidad R., additional, Ruiz, Amanda G., additional, Lagrana‐Villagracia, Sheryl Mae, additional, Ray, Dylan, additional, Yarza, Talitha Karisse L., additional, Scholes, Melissa A., additional, Anderson, Catherine B., additional, Acharya, Anushree, additional,  , University of Washington Center for, additional, Gubbels, Samuel P., additional, Bamshad, Michael J., additional, Cass, Stephen P., additional, Lee, Nanette R., additional, Shaikh, Rehan S., additional, Nickerson, Deborah A., additional, Mohlke, Karen L., additional, Prager, Jeremy D., additional, Cruz, Teresa Luisa G., additional, Yoon, Patricia J., additional, Abes, Generoso T., additional, Schwartz, David A., additional, Chan, Abner L., additional, Wine, Todd M., additional, Cutiongco‐de la Paz, Eva Maria, additional, Friedman, Norman, additional, Kechris, Katerina, additional, Kere, Juha, additional, Leal, Suzanne M., additional, Yang, Ivana V., additional, Patel, Janak A., additional, Tantoco, Ma. Leah C., additional, Riazuddin, Saima, additional, Chan, Kenny H., additional, Mattila, Petri S., additional, Reyes‐Quintos, Maria Rina T., additional, Ahmed, Zubair M., additional, Jenkins, Herman A., additional, Chonmaitree, Tasnee, additional, Hafrén, Lena, additional, Chiong, Charlotte M., additional, and Santos‐Cortez, Regie Lyn P., additional

Published
2019
Full Text
View/download PDF

24. Exome sequencing reveals novel variants and unique allelic spectrum for hearing impairment in Filipino cochlear implantees

Author

Truong, Brittany T., primary, Yarza, Talitha K.L., additional, Bootpetch Roberts, Tori, additional, Roberts, Susannah, additional, Xu, Jonathan, additional, Steritz, Matthew J., additional, Tobias‐Grasso, Celina A.M., additional, Azamian, Mahshid, additional, Lalani, Seema R., additional, Mohlke, Karen L., additional, Lee, Nanette R., additional, Cutiongco‐de la Paz, Eva Maria, additional, Reyes‐Quintos, Maria Rina T., additional, Santos‐Cortez, Regie Lyn P., additional, and Chiong, Charlotte M., additional

Published
2019
Full Text
View/download PDF

25. FUT2 Variants Confer Susceptibility to Familial Otitis Media

Author

Santos-Cortez, Regie Lyn P., primary, Chiong, Charlotte M., additional, Frank, Daniel N., additional, Ryan, Allen F., additional, Giese, Arnaud P.J., additional, Bootpetch Roberts, Tori, additional, Daly, Kathleen A., additional, Steritz, Matthew J., additional, Szeremeta, Wasyl, additional, Pedro, Melquiadesa, additional, Pine, Harold, additional, Yarza, Talitha Karisse L., additional, Scholes, Melissa A., additional, Llanes, Erasmo Gonzalo d.V., additional, Yousaf, Saira, additional, Friedman, Norman, additional, Tantoco, Ma. Leah C., additional, Wine, Todd M., additional, Labra, Patrick John, additional, Benoit, Jeanne, additional, Ruiz, Amanda G., additional, de la Cruz, Rhodieleen Anne R., additional, Greenlee, Christopher, additional, Yousaf, Ayesha, additional, Cardwell, Jonathan, additional, Nonato, Rachelle Marie A., additional, Ray, Dylan, additional, Ong, Kimberly Mae C., additional, So, Edward, additional, Robertson, Charles E., additional, Dinwiddie, Jordyn, additional, Lagrana-Villagracia, Sheryl Mae, additional, Gubbels, Samuel P., additional, Shaikh, Rehan S., additional, Cass, Stephen P., additional, Einarsdottir, Elisabet, additional, Lee, Nanette R., additional, Schwartz, David A., additional, Gloria-Cruz, Teresa Luisa I., additional, Bamshad, Michael J., additional, Yang, Ivana V., additional, Kere, Juha, additional, Abes, Generoso T., additional, Prager, Jeremy D., additional, Riazuddin, Saima, additional, Chan, Abner L., additional, Yoon, Patricia J., additional, Nickerson, Deborah A., additional, Cutiongco-de la Paz, Eva Maria, additional, Streubel, Sven-Olrik, additional, Reyes-Quintos, Maria Rina T., additional, Jenkins, Herman A., additional, Mattila, Petri, additional, Chan, Kenny H., additional, Mohlke, Karen L., additional, Leal, Suzanne M., additional, Hafrén, Lena, additional, Chonmaitree, Tasnee, additional, Sale, Michele M., additional, and Ahmed, Zubair M., additional

Published
2018
Full Text
View/download PDF

26. Genetic counseling in an indigenous Filipino community with a high prevalence of A2ML1-related otitis media

Author

la Paz, Eva Maria Cutiongco-de, primary, Pedro, Melquiadesa, additional, Yarza, Talitha Karisse L., additional, Lagrana-Villagracia, Sheryl Mae, additional, Amoranto, Abegail Jayne P., additional, Jover, Edbert Jasper M., additional, Domine, Ma. Theresa B., additional, Chiong, Charlotte M., additional, and Santos-Cortez, Regie Lyn P., additional

Published
2018
Full Text
View/download PDF

27. Otitis media susceptibility and shifts in the head and neck microbiome due to SPINK5variants

Author

Frank, Daniel N., Giese, Arnaud P. J., Hafren, Lena, Bootpetch, Tori C., Yarza, Talitha Karisse L., Steritz, Matthew J., Pedro, Melquiadesa, Labra, Patrick John, Daly, Kathleen A., Tantoco, Ma. Leah C., Szeremeta, Wasyl, Reyes-Quintos, Maria Rina T., Ahankoob, Niaz, Llanes, Erasmo Gonzalo d.V., Pine, Harold S., Yousaf, Sairah, Ir, Diana, Einarsdottir, Elisabet, de la Cruz, Rhodieleen Anne R., Lee, Nanette R., Nonato, Rachelle Marie A., Robertson, Charles E., Ong, Kimberly Mae C., Magno, Jose Pedrito M., Chiong, Alessandra Nadine E., Espiritu-Chiong, Ma. Carmina, San Agustin, Maria Luz, Cruz, Teresa Luisa G., Abes, Generoso T., Bamshad, Michael J., Cutiongco-de la Paz, Eva Maria, Kere, Juha, Nickerson, Deborah A., Mohlke, Karen L., Riazuddin, Saima, Chan, Abner, Mattila, Petri S., Leal, Suzanne M., Ryan, Allen F., Ahmed, Zubair M., Chonmaitree, Tasnee, Sale, Michele M., Chiong, Charlotte M., and Santos-Cortez, Regie Lyn P.

Abstract

BackgroundOtitis media (OM) susceptibility has significant heritability; however, the role of rare variants in OM is mostly unknown. Our goal is to identify novel rare variants that confer OM susceptibility.MethodsWe performed exome and Sanger sequencing of >1000 DNA samples from 551 multiethnic families with OM and unrelated individuals, RNA-sequencing and microbiome sequencing and analyses of swabs from the outer ear, middle ear, nasopharynx and oral cavity. We also examined protein localisation and gene expression in infected and healthy middle ear tissues.ResultsA large, intermarried pedigree that includes 81 OM-affected and 53 unaffected individuals cosegregates two known rare A2ML1variants, a common FUT2variant and a rare, novel pathogenic variant c.1682A>G (p.Glu561Gly) within SPINK5(LOD=4.09). Carriage of the SPINK5missense variant resulted in increased relative abundance of Microbacteriaceae in the middle ear, along with occurrence of Microbacteriaceae in the outer ear and oral cavity but not the nasopharynx. Eight additional novel SPINK5variants were identified in 12 families and individuals with OM. A role for SPINK5in OM susceptibility is further supported by lower RNA counts in variant carriers, strong SPINK5 localisation in outer ear skin, faint localisation to middle ear mucosa and eardrum and increased SPINK5expression in human cholesteatoma.ConclusionSPINK5variants confer susceptibility to non-syndromic OM. These variants potentially contribute to middle ear pathology through breakdown of mucosal and epithelial barriers, immunodeficiency such as poor vaccination response, alteration of head and neck microbiota and facilitation of entry of opportunistic pathogens into the middle ear.

Published
2021
Full Text
View/download PDF

31. Middle ear microbiome differences in indigenous Filipinos with chronic otitis media due to a duplication in the A2ML1 gene

Author

Santos-Cortez, Regie Lyn P., primary, Hutchinson, Diane S., additional, Ajami, Nadim J., additional, Reyes-Quintos, Ma. Rina T., additional, Tantoco, Ma. Leah C., additional, Labra, Patrick John, additional, Lagrana, Sheryl Mae, additional, Pedro, Melquiadesa, additional, Llanes, Erasmo Gonzalo d. V., additional, Gloria-Cruz, Teresa Luisa, additional, Chan, Abner L., additional, Cutiongco-de la Paz, Eva Maria, additional, Belmont, John W., additional, Chonmaitree, Tasnee, additional, Abes, Generoso T., additional, Petrosino, Joseph F., additional, Leal, Suzanne M., additional, and Chiong, Charlotte M., additional

Published
2016
Full Text
View/download PDF

32. Genetic and Environmental Determinants of Otitis Media in an Indigenous Filipino Population

Author

Santos‐Cortez, Regie Lyn P., primary, Reyes‐Quintos, Ma. Rina T., additional, Tantoco, Ma. Leah C., additional, Abbe, Izoduwa, additional, Llanes, Erasmo Gonzalo d.V., additional, Ajami, Nadim J., additional, Hutchinson, Diane S., additional, Petrosino, Joseph F., additional, Padilla, Carmencita D., additional, Villarta, Romeo L., additional, Gloria‐Cruz, Teresa Luisa, additional, Chan, Abner L., additional, Cutiongco‐de la Paz, Eva Maria, additional, Chiong, Charlotte M., additional, Leal, Suzanne M., additional, and Abes, Generoso T., additional

Published
2016
Full Text
View/download PDF

34. Rare A2ML1 variants confer susceptibility to otitis media.

Author

Santos-Cortez, Regie Lyn P, Wang, Xin, Acharya, Anushree, Abbe, Izoduwa, Li, Biao, Wang, Gao T, Leal, Suzanne M, Patel, Janak A, Chonmaitree, Tasnee, Sale, Michele M, Chiong, Charlotte M, Reyes-Quintos, Ma Rina T, Llanes, Erasmo Gonzalo D V, Gloria-Cruz, Teresa Luisa I, Chan, Abner L, Abes, Generoso T, Tantoco, Ma Leah C, Giese, Arnaud P, Riazuddin, Saima, and Ahmed, Zubair M

Subjects
PATHOLOGICAL physiology, OTITIS media, HAPLOTYPES, DNA, PROTEASE inhibitors
Abstract

A duplication variant within the middle ear-specific gene A2ML1 cosegregates with otitis media in an indigenous Filipino pedigree (LOD score = 7.5 at reduced penetrance) and lies within a founder haplotype that is also shared by 3 otitis-prone European-American and Hispanic-American children but is absent in non-otitis-prone children and >62,000 next-generation sequences. We identified seven additional A2ML1 variants in six otitis-prone children. Collectively, our studies support a role for A2ML1 in the pathophysiology of otitis media. [ABSTRACT FROM AUTHOR]

Published
2015
Full Text
View/download PDF

35. Lack of Methylation Changes in GJB2 and RB1 Non-coding Regions of Cochlear Implant Patients with Sensorineural Hearing Loss.

Author

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, and Chiong CM

Abstract

Objective: Recent advances in epigenetic studies continue to reveal novel mechanisms of gene regulation and control, however little is known on the role of epigenetics in sensorineural hearing loss (SNHL) in humans. We aimed to investigate the methylation patterns of two regions, one in RB1 and another in GJB2 in Filipino patients with SNHL compared to hearing control individuals., Methods: We investigated an RB1 promoter region that was previously identified as differentially methylated in children with SNHL and lead exposure. Additionally, we investigated a sequence in an enhancer-like region within GJB2 that contains four CpGs in close proximity. Bisulfite conversion was performed on salivary DNA samples from 15 children with SNHL and 45 unrelated ethnically-matched individuals. We then performed methylation-specific real-time PCR analysis (qMSP) using TaqMan ® probes to determine percentage methylation of the two regions., Results: Using qMSP, both our cases and controls had zero methylation at the targeted GJB2 and RB1 regions., Conclusion: Our study showed no changes in methylation at the selected CpG regions in RB1 and GJB2 in the two comparison groups with or without SNHL. This may be due to a lack of environmental exposures to these target regions. Other epigenetic marks may be present around these regions as well as those of other HL-associated genes., Competing Interests: Author Disclosure All authors declared no conflicts of interest.

Published
2023
Full Text
View/download PDF

36. A2ML1 and otitis media: novel variants, differential expression, and relevant pathways.

Author

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, and Santos-Cortez RLP

Subjects
Adolescent, Adult, Child, Child, Preschool, Female, Finland, Gene Expression Regulation, Genetic Predisposition to Disease, Humans, Infant, Male, Middle Aged, Pakistan, Pedigree, Philippines, Sequence Analysis, RNA, Signal Transduction, United States, Young Adult, Down-Regulation, Gene Expression Profiling methods, Mutation, Otitis Media genetics, Sequence Analysis, DNA methods, alpha-Macroglobulins genetics
Abstract

A genetic basis for otitis media is established, however, the role of rare variants in disease etiology is largely unknown. Previously a duplication variant within A2ML1 was identified as a significant risk factor for otitis media in an indigenous Filipino population and in US children. In this report exome and Sanger sequencing was performed using DNA samples from the indigenous Filipino population, Filipino cochlear implantees, US probands, Finnish, and Pakistani families with otitis media. Sixteen novel, damaging A2ML1 variants identified in otitis media patients were rare or low-frequency in population-matched controls. In the indigenous population, both gingivitis and A2ML1 variants including the known duplication variant and the novel splice variant c.4061 + 1 G>C were independently associated with otitis media. Sequencing of salivary RNA samples from indigenous Filipinos demonstrated lower A2ML1 expression according to the carriage of A2ML1 variants. Sequencing of additional salivary RNA samples from US patients with otitis media revealed differentially expressed genes that are highly correlated with A2ML1 expression levels. In particular, RND3 is upregulated in both A2ML1 variant carriers and high-A2ML1 expressors. These findings support a role for A2ML1 in keratinocyte differentiation within the middle ear as part of otitis media pathology and the potential application of ROCK inhibition in otitis media., (© 2019 Wiley Periodicals, Inc.)

Published
2019
Full Text
View/download PDF

Catalog

Books, media, physical & digital resources
See catalog results