Výsledky vyhledávání - "Matthew J. Steritz"

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

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

Publikováno v: Journal of Medical Genetics. 58:442-452

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 sequen

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::4c1f3273286a54b911b866b3c1c6e874
https://doi.org/10.1136/jmedgenet-2020-106844

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

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

Publikováno v: J Med Genet

BACKGROUND: Otitis 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. METHODS: We performed exome and Sanger se

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::b44b2d0faca9516c60eb8a0c6d7e44ef
https://pubmed.ncbi.nlm.nih.gov/32709676

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

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

Publikováno v: Clin Genet

[Image: see text]

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d8756becf50b155c4699008fdb4d9027
https://doi.org/10.1111/cge.13515

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

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

Publikováno v: Hum Mutat

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 Fi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ffa230c38770ef2c2a612a2e6653a5b4
http://hdl.handle.net/10138/312957

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Author response for 'Exome sequencing reveals novel variants and unique allelic spectrum for hearing impairment in Filipino cochlear implantees'

Autor: Charlotte M. Chiong, Talitha Karisse L. Yarza, Nanette R. Lee, Brittany T. Truong, Eva Maria C. Cutiongco de la Paz, Tori Bootpetch Roberts, Regie Lyn P. Santos-Cortez, Celina Ann M. Tobias-Grasso, Matthew J. Steritz, Maria Rina T. Reyes-Quintos, Karen L. Mohlke, Seema R. Lalani, Mahshid S. Azamian, Jonathan Xu

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::2b14711fec0e5e5b36207439d12078eb
https://doi.org/10.1111/cge.13515/v2/response1

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FUT2 Variants Confer Susceptibility to Familial Otitis Media

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

Publikováno v: American journal of human genetics. 103(5)

Non-secretor status due tohomozygosity for the commonFUT2 variant c. 461G> A(p. Trp154*) is associated witheither risk for autoimmune diseases or protection against viral diarrhea and HIV. We determined the role of FUT2 in otitis media susceptibility

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cc0ae5dcb12340c4ac56fe9788d70ca5
https://pubmed.ncbi.nlm.nih.gov/30401457

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