The genetic spectrum of familial hypercholesterolemia in Pakistan

著者: Ahmed, Waqas, Whittall, Ros, Riaz, Moeen, Ajmal, Muhammad, Sadeque, Ahmed, Ayub, Humaira, Qamar, Raheel, Humphries, Steve E.
出版事項 2013

Variants in the ASB10 Gene Are Associated with Primary Open Angle Glaucoma

著者: Micheal, Shazia, Ayub, Humaira, Islam, Farrah, Siddiqui, Sorath Noorani, Khan, Wajid Ali, Akhtar, Farah, Qamar, Raheel, Khan, Muhammad Imran, den Hollander, Anneke I.
出版年 PLoS One (2015)

Association of eNOS and HSP70 gene polymorphisms with glaucoma in Pakistani cohorts

著者: Ayub, Humaira, Khan, Muhammad Imran, Micheal, Shazia, Akhtar, Farah, Ajmal, Muhammad, Shafique, Sobia, Ali, Syeda Hafiza Benish, den Hollander, Anneke I., Ahmed, Asifa, Qamar, Raheel
出版事項 2010

Association of known common genetic variants with primary open angle, primary angle closure, and pseudoexfoliation glaucoma in Pakistani cohorts

著者: Micheal, Shazia, Ayub, Humaira, Khan, Muhammad Imran, Bakker, Bjorn, Schoenmaker-Koller, Frederieke E., Ali, Mahmood, Akhtar, Farah, Khan, Wajid Ali, Qamar, Raheel, den Hollander, Anneke I.
出版年 Mol Vis (2014)

Association of a Polymorphism in the BIRC6 Gene with Pseudoexfoliative Glaucoma

著者: Ayub, Humaira, Micheal, Shazia, Akhtar, Farah, Khan, Muhammad Imran, Bashir, Shaheena, Waheed, Nadia K., Ali, Mahmood, Schoenmaker-Koller, Frederieke E., Shafique, Sobia, Qamar, Raheel, den Hollander, Anneke I.
出版事項 2014

Exome Sequencing Identifies Three Novel Candidate Genes Implicated in Intellectual Disability

著者: Agha, Zehra, Iqbal, Zafar, Azam, Maleeha, Ayub, Humaira, Vissers, Lisenka E. L. M., Gilissen, Christian, Ali, Syeda Hafiza Benish, Riaz, Moeen, Veltman, Joris A., Pfundt, Rolph, van Bokhoven, Hans, Qamar, Raheel
出版年 PLoS One (2014)

Genetic Spectrum of Autosomal Recessive Non-Syndromic Hearing Loss in Pakistani Families

著者: Shafique, Sobia, Siddiqi, Saima, Schraders, Margit, Oostrik, Jaap, Ayub, Humaira, Bilal, Ammad, Ajmal, Muhammad, Seco, Celia Zazo, Strom, Tim M., Mansoor, Atika, Mazhar, Kehkashan, Shah, Syed Tahir A., Hussain, Alamdar, Azam, Maleeha, Kremer, Hannie, Qamar, Raheel
出版事項 2014

Exome sequencing identifies a novel and a recurrent BBS1 mutation in Pakistani families with Bardet-Biedl syndrome

著者: Ajmal, Muhammad, Khan, Muhammad Imran, Neveling, Kornelia, Tayyab, Ali, Jaffar, Sulman, Sadeque, Ahmed, Ayub, Humaira, Abbasi, Nasir Mahmood, Riaz, Moeen, Micheal, Shazia, Gilissen, Christian, Ali, Syeda Hafiza Benish, Azam, Maleeha, Collin, Rob W. J., Cremers, Frans P. M., Qamar, Raheel
出版事項 2013

Homozygosity Mapping and Targeted Sanger Sequencing Reveal Genetic Defects Underlying Inherited Retinal Disease in Families from Pakistan

著者: Maria, Maleeha, Ajmal, Muhammad, Azam, Maleeha, Waheed, Nadia Khalida, Siddiqui, Sorath Noorani, Mustafa, Bilal, Ayub, Humaira, Ali, Liaqat, Ahmad, Shakeel, Micheal, Shazia, Hussain, Alamdar, Shah, Syed Tahir Abbas, Ali, Syeda Hafiza Benish, Ahmed, Waqas, Khan, Yar Muhammad, den Hollander, Anneke I., Haer-Wigman, Lonneke, Collin, Rob W. J., Khan, Muhammad Imran, Qamar, Raheel, Cremers, Frans P. M.
出版年 PLoS One (2015)

The protective variant rs7173049 at LOXL1 locus impacts on retinoic acid signaling pathway in pseudoexfoliation syndrome

著者: Berner, Daniel, Hoja, Ursula, Zenkel, Matthias, Ross, James Julian, Uebe, Steffen, Paoli, Daniela, Frezzotti, Paolo, Rautenbach, Robyn M, Ziskind, Ari, Williams, Susan E, Carmichael, Trevor R, Ramsay, Michele, Topouzis, Fotis, Chatzikyriakidou, Anthi, Lambropoulos, Alexandros, Sundaresan, Periasamy, Ayub, Humaira, Akhtar, Farah, Qamar, Raheel, Zenteno, Juan C, Cruz-Aguilar, Marisa, Astakhov, Yury S, Dubina, Michael, Wiggs, Janey, Ozaki, Mineo, Kruse, Friedrich E, Aung, Tin, Reis, André, Khor, Chiea Chuen, Pasutto, Francesca, Schlötzer-Schrehardt, Ursula
出版年 Hum Mol Genet (2019)

Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci

著者: Aung, Tin, Ozaki, Mineo, Lee, Mei Chin, Schlötzer-Schrehardt, Ursula, Thorleifsson, Gudmar, Mizoguchi, Takanori, Igo, Robert P., Haripriya, Aravind, Williams, Susan E, Astakhov, Yury S., Orr, Andrew C, Burdon, Kathryn P., Nakano, Satoko, Mori, Kazuhiko, Abu-Amero, Khaled, Hauser, Michael, Li, Zheng, Prakadeeswari, Gopalakrishnan, Bailey, Jessica N. Cooke, Cherecheanu, Alina Popa, Kang, Jae H, Nelson, Sarah, Hayashi, Ken, Manabe, Shin-ichi, Kazama, Shigeyasu, Zarnowski, Tomasz, Inoue, Kenji, Irkec, Murat, Coca-Prados, Miguel, Sugiyama, Kazuhisa, Järvelä, Irma, Schlottmann, Patricio, Lerner, S. Fabian, Lamari, Hasnaa, Nilgün, Yildirim, Bikbov, Mukharram, Park, Ki Ho, Cha, Soon Cheol, Yamashiro, Kenji, Zenteno, Juan C., Jonas, Jost B., Kumar, Rajesh S, Perera, Shamira A, Chan, Anita S.Y., Kobakhidze, Nino, George, Ronnie, Vijaya, Lingam, Do, Tan, Edward, Deepak P., Marcos, Lourdes de Juan, Pakravan, Mohammad, Moghimi, Sasan, Ideta, Ryuichi, Bach-Holm, Daniella, Kappelgaard, Per, Wirostko, Barbara, Thomas, Samuel, Gaston, Daniel, Bedard, Karen, Greer, Wenda L, Yang, Zhenglin, Chen, Xueyi, Huang, Lulin, Sang, Jinghong, Jia, Hongyan, Jia, Liyun, Qiao, Chunyan, Zhang, Hui, Liu, Xuyang, Zhao, Bowen, Wang, Ya-Xing, Xu, Liang, Leruez, Stéphanie, Reynier, Pascal, Chichua, George, Tabagari, Sergo, Uebe, Steffen, Zenkel, Matthias, Berner, Daniel, Mossböck, Georg, Weisschuh, Nicole, Hoja, Ursula, Welge-Luessen, Ulrich-Christoph, Mardin, Christian, Founti, Panayiota, Chatzikyriakidou, Anthi, Pappas, Theofanis, Anastasopoulos, Eleftherios, Lambropoulos, Alexandros, Ghosh, Arkasubhra, Shetty, Rohit, Porporato, Natalia, Saravanan, Vijayan, Venkatesh, Rengaraj, Shivkumar, Chandrashekaran, Kalpana, Narendran, Sarangapani, Sripriya, Kanavi, Mozhgan R, Beni, Afsaneh Naderi, Yazdani, Shahin, lashay, Alireza, Naderifar, Homa, Khatibi, Nassim, Fea, Antonio, Lavia, Carlo, Dallorto, Laura, Rolle, Teresa, Frezzotti, Paolo, Paoli, Daniela, Salvi, Erika, Manunta, Paolo, Mori, Yosai, Miyata, Kazunori, Higashide, Tomomi, Chihara, Etsuo, Ishiko, Satoshi, Yoshida, Akitoshi, Yanagi, Masahide, Kiuchi, Yoshiaki, Ohashi, Tsutomu, Sakurai, Toshiya, Sugimoto, Takako, Chuman, Hideki, Aihara, Makoto, Inatani, Masaru, Miyake, Masahiro, Gotoh, Norimoto, Matsuda, Fumihiko, Yoshimura, Nagahisa, Ikeda, Yoko, Ueno, Morio, Sotozono, Chie, Jeoung, Jin Wook, Sagong, Min, Park, Kyu Hyung, Ahn, Jeeyun, Cruz-Aguilar, Marisa, Ezzouhairi, Sidi M, Rafei, Abderrahman, Chong, Yaan Fun, Ng, Xiao Yu, Goh, Shuang Ru, Chen, Yueming, Yong, Victor H.K., Khan, Muhammad Imran, Olawoye, Olusola O, Ashaye, Adeyinka O, Ugbede, Idakwo, Onakoya, Adeola, Kizor-Akaraiwe, Nkiru, Teekhasaenee, Chaiwat, Suwan, Yanin, Supakontanasan, Wasu, Okeke, Suhanya, Uche, Nkechi, Asimadu, Ifeoma, Ayub, Humaira, Akhtar, Farah, Kosior-Jarecka, Ewa, Lukasik, Urszula, Lischinsky, Ignacio, Castro, Vania, Grossmann, Rodolfo Perez, Megevand, Gordana Sunaric, Roy, Sylvain, Dervan, Edward, Silke, Eoin, Rao, Aparna, Sahay, Priti, Fornero, Pablo, Cuello, Osvaldo, Sivori, Delia, Zompa, Tamara, Mills, Richard A, Souzeau, Emmanuelle, Mitchell, Paul, Wang, Jie Jin, Hewitt, Alex W, Coote, Michael, Crowston, Jonathan G, Astakhov, Sergei Y., Akopov, Eugeny L., Emelyanov, Anton, Vysochinskaya, Vera, Kazakbaeva, Gyulli, Fayzrakhmanov, Rinat, Al-Obeidan, Saleh A., Owaidhah, Ohoud, Aljasim, Leyla Ali, Chowbay, Balram, Foo, Jia Nee, Soh, Raphael Q, Sim, Kar Seng, Xie, Zhicheng, Cheong, Augustine W.O., Mok, Shi Qi, Soo, Hui Meng, Chen, Xiao Yin, Peh, Su Qin, Heng, Khai Koon, Husain, Rahat, Ho, Su-Ling, Hillmer, Axel M., Cheng, Ching-Yu, Escudero-Domínguez, Francisco A., González-Sarmiento, Rogelio, Martinon-Torres, Frederico, Salas, Antonio, Pathanapitoon, Kessara, Hansapinyo, Linda, Wanichwecharugruang, Boonsong, Kitnarong, Naris, Sakuntabhai, Anavaj, Nguyễn, Hiệp X, Nguyễn, Giang T.T., Nguyễn, Trình V, Zenz, Werner, Binder, Alexander, Klobassa, Daniela S., Hibberd, Martin L., Davila, Sonia, Herms, Stefan, Nöthen, Markus M, Moebus, Susanne, Rautenbach, Robyn M, Ziskind, Ari, Carmichael, Trevor R, Ramsay, Michele, Álvarez, Lydia, García, Montserrat, González-Iglesias, Héctor, Rodríguez-Calvo, Pedro P., Cueto, Luis Fernández-Vega, Oguz, Çilingir, Tamcelik, Nevbahar, Atalay, Eray, Batu, Bilge, Aktas, Dilek, Kasim, Burcu, Wilson, M. Roy, Coleman, Anne L, Liu, Yutao, Challa, Pratap, Herndon, Leon, Kuchtey, Rachel W., Kuchtey, John, Curtin, Karen, Chaya, Craig J., Crandall, Alan, Zangwill, Linda M., Wong, Tien Yin, Nakano, Masakazu, Kinoshita, Shigeru, den Hollander, Anneke I., Vesti, Eija, Fingert, John H, Lee, Richard K., Sit, Arthur J., Shingleton, Bradford J., Wang, Ningli, Cusi, Daniele, Qamar, Raheel, Kraft, Peter, Pericak-Vance, Margaret A., Raychaudhuri, Soumya, Heegaard, Steffen, Kivelä, Tero, Reis, André, Kruse, Friedrich E., Weinreb, Robert N, Pasquale, Louis R., Haines, Jonathan L., Thorsteinsdottir, Unnur, Jonasson, Fridbert, Allingham, R Rand, Milea, Dan, Ritch, Robert, Kubota, Toshiaki, Tashiro, Kei, Vithana, Eranga N, Micheal, Shazia, Topouzis, Fotis, Craig, Jamie E., Dubina, Michael, Sundaresan, Periasamy, Stefansson, Kari, Wiggs, Janey L, Pasutto, Francesca, Khor, Chiea Chuen
出版年 Nat Genet (2017)