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R

Regie Lyn P. Santos-Cortez

baylor college of medicine
H指数:18
被引数:1,195

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A Novel SLPI Splice Variant Confers Susceptibility to Otitis Media in Humans

一种新型的SLPI剪接变体使人类易患中耳炎

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
IF4.9
2025-02-070
OA
Elling, Christina L.; Ryan, Allen F.; Yarza, Talitha Karisse L.; Ghaffar, Amama; Llanes, Erasmo Gonzalo d. V.; Kofonow, Jennifer M.; Reyes-Quintos, Maria Rina T.; Riazuddin, Saima; Robertson, Charles E.; Tantoco, Ma. Leah C.; Ahmed, Zubair M.; Chan, Abner L.; Frank, Daniel N.; Chiong, Charlotte M.; Santos-Cortez, Regie Lyn P.
ADAMTS1, MPDZ, MVD, and SEZ6: candidate genes for autosomal recessive nonsyndromic hearing impairment
EUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
2021-06-169
OAAI
Bharadwaj, Thashi; Schrauwen, Isabelle; Rehman, Sakina; Liaqat, Khurram; Acharya, Anushree; Giese, Arnaud P. J.; Nouel-Saied, Liz M.; Nasir, Abdul; Everard, Jenna L.; Pollock, Lana M.; Zhu, Shaoyuan; Bamshad, Michael J.; Nickerson, Deborah A.; Ali, Raja Hussain; Ullah, Asmat; Wali, Abdul; Ali, Ghazanfar; Santos-Cortez, Regie Lyn P.; Ahmed, Zubair M.; McDermott Jr, Brian M.; Ansar, Muhammad; Riazuddin, Saima; Ahmad, Wasim; Leal, Suzanne M.
Otitis media susceptibility and shifts in the head and neck microbiome due to SPINK5 variants
JOURNAL OF MEDICAL GENETICS
IF3.7
2020-07-2419
OAAI
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.
A2ML1 and otitis media: novel variants, differential expression, and relevant pathways
HUMAN MUTATION
IF3.7
2019-05-2116
OAAI
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.; Mae Lagrana-Villagracia, Sheryl; Ray, Dylan; Yarza, Talitha Karisse L.; Scholes, Melissa A.; Anderson, Catherine B.; Acharya, Anushree; 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.; Maria Cutiongco-de la Paz, Eva; 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; Hafren, Lena; Chiong, Charlotte M.; Santos-Cortez, Regie Lyn P.
Variants in KIAA0825 underlie autosomal recessive postaxial polydactyly
HUMAN GENETICS
IF3.6
2019-04-1321
OAAI
Ullah, Irfan; Kakar, Naseebullah; Schrauwen, Isabelle; Hussain, Shabir; Chakchouk, Imen; Liaqat, Khurram; Acharya, Anushree; Wasif, Naveed; Santos-Cortez, Regie Lyn P.; Khan, Saadullah; Aziz, Abdul; Lee, Kwanghyuk; Couthouis, Julien; Horn, Denise; Kragesteen, Bjort K.; Spielmann, Malte; Thiele, Holger; Nickerson, Deborah A.; Bamshad, Michael J.; Gitler, Aaron D.; Ahmad, Jamil; Ansar, Muhammad; Borck, Guntram; Ahmad, Wasim; Leal, Suzanne M.
Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss
HUMAN MUTATION
IF3.7
2018-11-1865
OAAI
Richard, Elodie M.; Santos-Cortez, Regie Lyn P.; Faridi, Rabia; Rehman, Atteeq U.; Lee, Kwanghyuk; Shahzad, Mohsin; Acharya, Anushree; Khan, Asma A.; Imtiaz, Ayesha; Chakchouk, Imen; Takla, Christina; Abbe, Izoduwa; Rafeeq, Maria; Liaqat, Khurram; Chaudhry, Taimur; Bamshad, Michael J.; Nickerson, Deborah A.; Schrauwen, Isabelle; Khan, Shaheen N.; Morell, Robert J.; Zafar, Saba; Ansar, Muhammad; Ahmed, Zubair M.; Ahmad, Wasim; Riazuddin, Sheikh; Friedman, Thomas B.; Leal, Suzanne M.; Riazuddin, Saima
FUT2 Variants Confer Susceptibility to Familial Otitis Media
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2018-11-0135
OAAI
Santos-Cortez, Regie Lyn P.; Chiong, Charlotte M.; Frank, Daniel N.; Ryan, Allen F.; Giese, Arnaud P. J.; Roberts, Tori Bootpetch; 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.; John Labra, Patrick; 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.; Hafren, Lena; Chonmaitree, Tasnee; Sale, Michele M.; Ahmed, Zubair M.
Rare A2ML1 variants confer susceptibility to otitis media
NATURE GENETICS
IF31.8
2015-06-2934
OAAI
Santos-Cortez, Regie Lyn P.; Chiong, Charlotte M.; Reyes-Quintos, Ma Rina T.; Tantoco, Ma Leah C.; Wang, Xin; Acharya, Anushree; Abbe, Izoduwa; Giese, Arnaud P.; Smith, Joshua D.; Allen, E. Kaitlynn; Li, Biao; Maria Cutiongco-de la Paz, Eva; Garcia, Marieflor Cristy; Llanes, Erasmo Gonzalo D. V.; Labra, Patrick John; Gloria-Cruz, Teresa Luisa I.; Chan, Abner L.; Wang, Gao T.; Daly, Kathleen A.; Shendure, Jay; Bamshad, Michael J.; Nickerson, Deborah A.; Patel, Janak A.; Riazuddin, Saima; Sale, Michele M.; Chonmaitree, Tasnee; Ahmed, Zubair M.; Abes, Generoso T.; Leal, Suzanne M.
Adenylate cyclase 1 (ADCY1) mutations cause recessive hearing impairment in humans and defects in hair cell function and hearing in zebrafish
HUMAN MOLECULAR GENETICS
IF3.2
2014-01-2947
OAAI
Santos-Cortez, Regie Lyn P.; Lee, Kwanghyuk; Giese, Arnaud P.; Ansar, Muhammad; Amin-Ud-Din, Muhammad; Rehn, Kira; Wang, Xin; Aziz, Abdul; Chiu, Ilene; Ali, Raja Hussain; Smith, Joshua D.; Shendure, Jay; Bamshad, Michael; Nickerson, Deborah A.; Ahmed, Zubair M.; Ahmad, Wasim; Riazuddin, Saima; Leal, Suzanne M.
TM4SF20 Ancestral Deletion and Susceptibility to a Pediatric Disorder of Early Language Delay and Cerebral White Matter Hyperintensities
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2013-08-0148
OAAI
Wiszniewski, Wojciech; Hunter, Jill V.; Hanchard, Neil A.; Willer, Jason R.; Shaw, Chad; Tian, Qi; Illner, Anna; Wang, Xueqing; Cheung, Sau W.; Patel, Ankita; Campbell, Ian M.; Gelowani, Violet; Hixson, Patricia; Ester, Audrey R.; Azamian, Mahshid S.; Potocki, Lorraine; Zapata, Gladys; Hernandez, Patricia P.; Ramocki, Melissa B.; Santos-Cortez, Regie L. P.; Wang, Gao; York, Michele K.; Justice, Monica J.; Chu, Zili D.; Bader, Patricia I.; Omo-Griffith, Lisa; Madduri, Nirupama S.; Scharer, Gunter; Crawford, Heather P.; Yanatatsaneejit, Pattamawadee; Eifert, Anna; Kerr, Jeffery; Bacino, Carlos A.; Franklin, Adiaha I. A.; Goin-Kochel, Robin P.; Simpson, Gayle; Immken, Ladonna; Haque, Muhammad E.; Stosic, Marija; Williams, Misti D.; Morgan, Thomas M.; Pruthi, Sumit; Omary, Reed; Boyadjiev, Simeon A.; Win, Kay K.; Thida, Aye; Hurles, Matthew; Hibberd, Martin Lloyd; Khor, Chiea Chuen; Chau, Nguyen Van Vinh; Gallagher, Thomas E.; Mutirangura, Apiwat; Stankiewicz, Pawel; Beaudet, Arthur L.; Maletic-Savatic, Mirjana; Rosenfeld, Jill A.; Shaffer, Lisa G.; Davis, Erica E.; Belmont, John W.; Dunstan, Sarah; Simmons, Cameron P.; Bonnen, Penelope E.; Leal, Suzanne M.; Katsanis, Nicholas; Lupski, James R.; Lalani, Seema R.

研究方向

暂未获取到该数据
S
Suzanne M. Leal
H 指数:74论文数:383被引数:3.0万
D
Deborah A. Nickerson
H 指数:120论文数:675被引数:10.1万
S
Saima Riazuddin
H 指数:52论文数:207被引数:9,603
Z
Zubair M. Ahmed
H 指数:54论文数:203被引数:1.2万
M
Michael J. Bamshad
H 指数:96论文数:552被引数:4.5万
W
Wasim Ahmad
H 指数:46论文数:357被引数:8,986
M
Muhammad Ansar
H 指数:32论文数:170被引数:4,382
A
Anushree Acharya
H 指数:20论文数:75被引数:1,223
A
Arnaud P. J. Giese
H 指数:15论文数:41被引数:1,130
K
Kwanghyuk Lee
H 指数:21论文数:37被引数:1,597