Novel OTOA mutations cause autosomal recessive non-syndromic hearing impairment in Pakistani families
Lee, K, Chiu, I, Santos-Cortez, RLP, Basit, S, Khan, S, Azeem, Z, Andrade, PB, Kim, SS, Ahmad, W, Leal, SM
Published in Clinical genetics (01.09.2013)
Published in Clinical genetics (01.09.2013)
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A homozygous missense mutation in SLC25A16 associated with autosomal recessive isolated fingernail dysplasia in a Pakistani family
Khan, S., Ansar, M., Khan, A. K., Shah, K., Muhammad, N., Shahzad, S., Nickerson, D.A., Bamshad, M.J., Santos‐Cortez, R.L.P., Leal, S.M., Ahmad, W.
Published in British journal of dermatology (1951) (01.02.2018)
Published in British journal of dermatology (1951) (01.02.2018)
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Low prevalence of Connexin 26 (GJB2) variants in Pakistani families with autosomal recessive non-syndromic hearing impairment
Santos, RLP, Wajid, M, Pham, TL, Hussan, J, Ali, G, Ahmad, W, Leal, SM
Published in Clinical genetics (01.01.2005)
Published in Clinical genetics (01.01.2005)
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Heritability of fasting glucose levels in a young genetically isolated population
Santos, R. L. P, Zillikens, M. C, Rivadeneira, F. R, Pols, H. A. P, Oostra, B. A, van Duijn, C. M, Aulchenko, Y. S
Published in Diabetologia (01.04.2006)
Published in Diabetologia (01.04.2006)
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FUT2 Variants Confer Susceptibility to Familial Otitis Media
Santos-Cortez, Regie Lyn P., Chiong, Charlotte M., Frank, Daniel N., Ryan, Allen F., Giese, Arnaud P.J., Bootpetch Roberts, Tori, Daly, Kathleen A., Steritz, Matthew J., Szeremeta, Wasyl, Pedro, Melquiadesa, Pine, Harold, Yarza, Talitha Karisse L., Scholes, Melissa A., Llanes, Erasmo Gonzalo d.V., Yousaf, Saira, Friedman, Norman, Tantoco, Ma. Leah C., Wine, Todd M., Labra, Patrick John, Benoit, Jeanne, Ruiz, Amanda G., de la Cruz, Rhodieleen Anne R., Greenlee, Christopher, Yousaf, Ayesha, Cardwell, Jonathan, Nonato, Rachelle Marie A., Ray, Dylan, Ong, Kimberly Mae C., So, Edward, Robertson, Charles E., Dinwiddie, Jordyn, Lagrana-Villagracia, Sheryl Mae, Gubbels, Samuel P., Shaikh, Rehan S., Cass, Stephen P., Einarsdottir, Elisabet, Lee, Nanette R., Schwartz, David A., Gloria-Cruz, Teresa Luisa I., Bamshad, Michael J., Yang, Ivana V., Kere, Juha, Abes, Generoso T., Prager, Jeremy D., Riazuddin, Saima, Chan, Abner L., Yoon, Patricia J., Nickerson, Deborah A., Cutiongco-de la Paz, Eva Maria, Streubel, Sven-Olrik, Reyes-Quintos, Maria Rina T., Jenkins, Herman A., Mattila, Petri, Chan, Kenny H., Mohlke, Karen L., Leal, Suzanne M., Hafrén, Lena, Chonmaitree, Tasnee, Sale, Michele M., Ahmed, Zubair M.
Published in American journal of human genetics (01.11.2018)
Published in American journal of human genetics (01.11.2018)
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Otitis media susceptibility and shifts in the head and neck microbiome due to SPINK5 variants
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., Santos-Cortez, Regie Lyn P.
Published in Journal of medical genetics (01.07.2021)
Published in Journal of medical genetics (01.07.2021)
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DFNB68, a novel autosomal recessive non-syndromic hearing impairment locus at chromosomal region 19p13.2
SANTOS, Regie Lyn P, MUHAMMAD JAWAD HASSAN, SIKANDAR, Shaheen, LEE, Kwanghyuk, ALI, Ghazanfar, MARTIN, Protacio E, WAMBANGCO, Michael Angelo L, AHMAD, Wasim, LEAL, Suzanne M
Published in Human genetics (01.08.2006)
Published in Human genetics (01.08.2006)
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The role of CDHR3 in susceptibility to otitis media
Hirsch, Scott D., Elling, Christina L., Bootpetch, Tori C., Scholes, Melissa A., Hafrén, Lena, Streubel, Sven-Olrik, Pine, Harold S., Wine, Todd M., Szeremeta, Wasyl, Prager, Jeremy D., Einarsdottir, Elisabet, Yousaf, Ayesha, Baschal, Erin E., Rehman, Sakina, Bamshad, Michael J., Nickerson, Deborah A., Riazuddin, Saima, Leal, Suzanne M., Ahmed, Zubair M., Yoon, Patricia J., Kere, Juha, Chan, Kenny H., Mattila, Petri S., Friedman, Norman R., Chonmaitree, Tasnee, Frank, Daniel N., Ryan, Allen F., Santos-Cortez, Regie Lyn P.
Published in Journal of molecular medicine (Berlin, Germany) (01.11.2021)
Published in Journal of molecular medicine (Berlin, Germany) (01.11.2021)
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Novel sequence variants in the TMIE gene in families with autosomal recessive nonsyndromic hearing impairment
SANTOS, Regie Lyn P, EI-SHANTI, Hatem, AHMAD, Wasim, LEAL, Suzanne M, SIKANDAR, Shaheen, LEE, Kwanghyuk, BHATTI, Attya, KAI YAN, CHAHROUR, Maria H, MCARTHUR, Nathan, PHAM, Thanh L, AMJAD ABDULLAH MAHASNEH
Published in Journal of molecular medicine (Berlin, Germany) (01.03.2006)
Published in Journal of molecular medicine (Berlin, Germany) (01.03.2006)
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A2ML1 and otitis media: novel variants, differential expression, and relevant pathways
Larson, Eric D., Magno, Jose Pedrito M., Steritz, Matthew J., Llanes, Erasmo Gonzalo d.V., Cardwell, Jonathan, Pedro, Melquiadesa, Roberts, Tori Bootpetch, Einarsdottir, Elisabet, Rosanes, Rose Anne Q., Greenlee, Christopher, Santos, Rachel Ann P., Yousaf, Ayesha, Streubel, Sven‐Olrik, Santos, Aileen Trinidad R., Ruiz, Amanda G., Lagrana‐Villagracia, Sheryl Mae, Ray, Dylan, Yarza, Talitha Karisse L., Scholes, Melissa A., Anderson, Catherine B., Acharya, Anushree, , University of Washington Center for Mendelian Genomics, Gubbels, Samuel P., Bamshad, Michael J., Cass, Stephen P., Lee, Nanette R., Shaikh, Rehan S., Nickerson, Deborah A., Mohlke, Karen L., Prager, Jeremy D., Cruz, Teresa Luisa G., Yoon, Patricia J., Abes, Generoso T., Schwartz, David A., Chan, Abner L., Wine, Todd M., Cutiongco‐de la Paz, Eva Maria, Friedman, Norman, Kechris, Katerina, Kere, Juha, Leal, Suzanne M., Yang, Ivana V., Patel, Janak A., Tantoco, Ma. Leah C., Riazuddin, Saima, Chan, Kenny H., Mattila, Petri S., Reyes‐Quintos, Maria Rina T., Ahmed, Zubair M., Jenkins, Herman A., Chonmaitree, Tasnee, Hafrén, Lena, Chiong, Charlotte M., Santos‐Cortez, Regie Lyn P.
Published in Human mutation (01.08.2019)
Published in Human mutation (01.08.2019)
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Multi-omic studies on missense PLG variants in families with otitis media
Bootpetch, Tori C, Hafrén, Lena, Elling, Christina L, Baschal, Erin E, Manichaikul, Ani W, Pine, Harold S, Szeremeta, Wasyl, Scholes, Melissa A, Cass, Stephen P, Larson, Eric D, Chan, Kenny H, Ishaq, Rafaqat, Prager, Jeremy D, Shaikh, Rehan S, Gubbels, Samuel P, Yousaf, Ayesha, Wine, Todd M, Bamshad, Michael J, Yoon, Patricia J, Jenkins, Herman A, Nickerson, Deborah A, Streubel, Sven-Olrik, Friedman, Norman R, Frank, Daniel N, Einarsdottir, Elisabet, Kere, Juha, Riazuddin, Saima, Daly, Kathleen A, Leal, Suzanne M, Ryan, Allen F, Mattila, Petri S, Ahmed, Zubair M, Sale, Michele M, Chonmaitree, Tasnee, Santos-Cortez, Regie Lyn P
Published in Scientific reports (14.09.2020)
Published in Scientific reports (14.09.2020)
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Short Report: Localization of a novel autosomal recessive non-syndromic hearing impairment locus DFNB55 to chromosome 4q12-q13.2
Irshad, S, Santos, RLP, Muhammad, D, Lee, K, McArthur, N, Haque, S, Ahmad, W, Leal, S M
Published in Clinical genetics (01.09.2005)
Published in Clinical genetics (01.09.2005)
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Hearing impairment in Dutch patients with connexin 26 ( GJB2) and connexin 30 ( GJB6) mutations
Santos, Regie Lyn P., Aulchenko, Yurii S., Huygen, Patrick L.M., Donk, Kim P. van der, Wijs, Ilse J. de, Kemperman, Martijn H., Admiraal, Ronald J.C., Kremer, Hannie, Hoefsloot, Lies H., Cremers, Cor W.R.J.
Published in International journal of pediatric otorhinolaryngology (01.02.2005)
Published in International journal of pediatric otorhinolaryngology (01.02.2005)
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The mapping of DFNB62, a new locus for autosomal recessive non-syndromic hearing impairment, to chromosome 12p13.2-p11.23
Ali, G, Santos, RLP, John, P, Wambangco, MAL, Lee, K, Ahmad, W, Leal, SM
Published in Clinical genetics (01.05.2006)
Published in Clinical genetics (01.05.2006)
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A novel autosomal recessive non-syndromic hearing impairment locus (DFNB47) maps to chromosome 2p25.1-p24.3
MUHAMMAD JAWAD HASSAN, SANTOS, Regie Lyn P, KAI YAN, AHMAD, Wasim, LEAL, Suzanne M, MUHAMMAD ARSHAD RAFIQ, CHAHROUR, Maria H, PHAM, Thanh L, WAJID, Muhammad, HIJAB, Nadine, WAMBANGCO, Michael, LEE, Kwanghyuk, ANSAR, Muhammad
Published in Human genetics (01.01.2006)
Published in Human genetics (01.01.2006)
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Pathogenic FBN1 variants in familial thoracic aortic aneurysms and dissections
Regalado, E.S., Guo, D.C., Santos-Cortez, R.L.P., Hostetler, E., Bensend, T.A., Pannu, H., Estrera, A., Safi, H., Mitchell, A.L., Evans, J.P., Leal, S.M., Bamshad, M., Shendure, J., Nickerson, D.A., Milewicz, D.M.
Published in Clinical genetics (01.06.2016)
Published in Clinical genetics (01.06.2016)
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