Microdeletion of chromosome 1q21.3 in fraternal twins is associated with mental retardation, microcephaly, and epilepsy

le Sonmez, Fatma Mujgan, Uctepe, Eyyup, Aktas, Dilek, Alikasifoglu, Mehmet
Foilsithe in Intractable Rare Dis Res (2017)

Association of LOXL1 gene polymorphisms with exfoliation syndrome/glaucoma and primary open angle glaucoma in a Turkish population

le Kasım, Burcu, İrkeç, Murat, Alikaşifoğlu, Mehmet, Orhan, Mehmet, Mocan, Mehmet Cem, Aktaş, Dilek
Foilsithe 2013

Clinically abnormal case with paternally derived partial trisomy 8p23.3 to 8p12 including maternal isodisomy of 8p23.3: a case report

le Aktas, Dilek, Weise, Anja, Utine, Eda, Alehan, Dursun, Mrasek, Kristin, von Eggeling, Ferdinand, Thieme, Heike, Tuncbilek, Ergul, Liehr, Thomas
Foilsithe 2009

European registration process for Clinical Laboratory Geneticists in genetic healthcare

le Liehr, Thomas, Carreira, Isabel M, Aktas, Dilek, Bakker, Egbert, Rodríguez de Alba, Marta, Coviello, Domenico A, Florentin, Lina, Scheffer, Hans, Rincic, Martina
Foilsithe in Eur J Hum Genet (2017)

Derivative chromosome 1 and GLUT1 deficiency syndrome in a sibling pair

le Aktas, Dilek, Utine, Eda G, Mrasek, Kristin, Weise, Anja, von Eggeling, Ferdinand, Yalaz, Kalbiye, Posorski, Nicole, Akarsu, Nurten, Alikasifoglu, Mehmet, Liehr, Thomas, Tuncbilek, Ergul
Foilsithe 2010

Disruption of ALX1 Causes Extreme Microphthalmia and Severe Facial Clefting: Expanding the Spectrum of Autosomal-Recessive ALX-Related Frontonasal Dysplasia

le Uz, Elif, Alanay, Yasemin, Aktas, Dilek, Vargel, Ibrahim, Gucer, Safak, Tuncbilek, Gokhan, von Eggeling, Ferdinand, Yilmaz, Engin, Deren, Ozgur, Posorski, Nicole, Ozdag, Hilal, Liehr, Thomas, Balci, Sevim, Alikasifoglu, Mehmet, Wollnik, Bernd, Akarsu, Nurten A.
Foilsithe 2010

Complex small supernumerary marker chromosomes – an update

le Liehr, Thomas, Cirkovic, Sanja, Lalic, Tanja, Guc-Scekic, Marija, de Almeida, Cynthia, Weimer, Jörg, Iourov, Ivan, Melaragno, Maria Isabel, Guilherme, Roberta S, Stefanou, Eunice-Georgia G, Aktas, Dilek, Kreskowski, Katharina, Klein, Elisabeth, Ziegler, Monika, Kosyakova, Nadezda, Volleth, Marianne, Hamid, Ahmed B
Foilsithe 2013

Mutations in the Gene Encoding the RER Protein FKBP65 Cause Autosomal-Recessive Osteogenesis Imperfecta

le Alanay, Yasemin, Avaygan, Hrispima, Camacho, Natalia, Utine, G. Eda, Boduroglu, Koray, Aktas, Dilek, Alikasifoglu, Mehmet, Tuncbilek, Ergul, Orhan, Diclehan, Bakar, Filiz Tiker, Zabel, Bernard, Superti-Furga, Andrea, Bruckner-Tuderman, Leena, Curry, Cindy J.R., Pyott, Shawna, Byers, Peter H., Eyre, David R., Baldridge, Dustin, Lee, Brendan, Merrill, Amy E., Davis, Elaine C., Cohn, Daniel H., Akarsu, Nurten, Krakow, Deborah
Foilsithe 2010

Mutations in the Gene Encoding the RER Protein FKBP65 Cause Autosomal-Recessive Osteogenesis Imperfecta

le Alanay, Yasemin, Avaygan, Hrispima, Camacho, Natalia, Utine, G. Eda, Boduroglu, Koray, Aktas, Dilek, Alikasifoglu, Mehmet, Tuncbilek, Ergul, Orhan, Diclehan, Bakar, Filiz Tiker, Zabel, Bernard, Superti-Furga, Andrea, Bruckner-Tuderman, Leena, Curry, Cindy J.R., Pyott, Shawna, Byers, Peter H., Eyre, David R., Baldridge, Dustin, Lee, Brendan, Merrill, Amy E., Davis, Elaine C., Cohn, Daniel H., Akarsu, Nurten, Krakow, Deborah
Foilsithe 2010

Paralog Studies Augment Gene Discovery: DDX and DHX Genes

le Paine, Ingrid, Posey, Jennifer E., Grochowski, Christopher M., Jhangiani, Shalini N., Rosenheck, Sarah, Kleyner, Robert, Marmorale, Taylor, Yoon, Margaret, Wang, Kai, Robison, Reid, Cappuccio, Gerarda, Pinelli, Michele, Magli, Adriano, Coban Akdemir, Zeynep, Hui, Joannie, Yeung, Wai Lan, Wong, Bibiana K.Y., Ortega, Lucia, Bekheirnia, Mir Reza, Bierhals, Tatjana, Hempel, Maja, Johannsen, Jessika, Santer, René, Aktas, Dilek, Alikasifoglu, Mehmet, Bozdogan, Sevcan, Aydin, Hatip, Karaca, Ender, Bayram, Yavuz, Ityel, Hadas, Dorschner, Michael, White, Janson J., Wilichowski, Ekkehard, Wortmann, Saskia B., Casella, Erasmo B., Kitajima, Joao Paulo, Kok, Fernando, Monteiro, Fabiola, Muzny, Donna M., Bamshad, Michael, Gibbs, Richard A., Sutton, V. Reid, Van Esch, Hilde, Brunetti-Pierri, Nicola, Hildebrandt, Friedhelm, Brautbar, Ariel, Van den Veyver, Ignatia B., Glass, Ian, Lessel, Davor, Lyon, Gholson J., Lupski, James R.
Foilsithe in Am J Hum Genet (2019)

Genes that affect brain structure and function identified by rare variant analyses of Mendelian neurologic disease

le Karaca, Ender, Harel, Tamar, Pehlivan, Davut, Jhangiani, Shalini N., Gambin, Tomasz, Akdemir, Zeynep Coban, Gonzaga-Jauregui, Claudia, Erdin, Serkan, Bayram, Yavuz, Campbell, Ian M., Hunter, Jill V., Atik, Mehmed M., Van Esch, Hilde, Yuan, Bo, Wiszniewski, Wojciech, Isikay, Sedat, Yesil, Gozde, Yuregir, Ozge O., Bozdogan, Sevcan Tug, Aslan, Huseyin, Aydin, Hatip, Tos, Tulay, Aksoy, Ayse, De Vivo, Darryl C., Jain, Preti, Geckinli, B. Bilge, Sezer, Ozlem, Gul, Davut, Durmaz, Burak, Cogulu, Ozgur, Ozkinay, Ferda, Topcu, Vehap, Candan, Sukru, Cebi, Alper Han, Ikbal, Mevlit, Gulec, Elif Yilmaz, Gezdirici, Alper, Koparir, Erkan, Ekici, Fatma, Coskun, Salih, Cicek, Salih, Karaer, Kadri, Koparir, Asuman, Duz, Mehmet Bugrahan, Kirat, Emre, Fenercioglu, Elif, Ulucan, Hakan, Seven, Mehmet, Guran, Tulay, Elcioglu, Nursel, Yildirim, Mahmut Selman, Aktas, Dilek, Alikaşifoğlu, Mehmet, Ture, Mehmet, Yakut, Tahsin, Overton, John D., Yuksel, Adnan, Ozen, Mustafa, Muzny, Donna M., Adams, David R., Boerwinkle, Eric, Chung, Wendy K., Gibbs, Richard A., Lupski, James R
Foilsithe in Neuron (2015)

Association of Rare CYP39A1 Variants With Exfoliation Syndrome Involving the Anterior Chamber of the Eye

le Li, Zheng, Wang, Zhenxun, Lee, Mei Chin, Zenkel, Matthias, Peh, Esther, Ozaki, Mineo, Topouzis, Fotis, Nakano, Satoko, Chan, Anita, Chen, Shuwen, Williams, Susan E. I., Orr, Andrew, Nakano, Masakazu, Kobakhidze, Nino, Zarnowski, Tomasz, Popa-Cherecheanu, Alina, Mizoguchi, Takanori, Manabe, Shin-ichi, Hayashi, Ken, Kazama, Shigeyasu, Inoue, Kenji, Mori, Yosai, Miyata, Kazunori, Sugiyama, Kazuhisa, Higashide, Tomomi, Chihara, Etsuo, Ideta, Ryuichi, Ishiko, Satoshi, Yoshida, Akitoshi, Tokumo, Kana, Kiuchi, Yoshiaki, Ohashi, Tsutomu, Sakurai, Toshiya, Sugimoto, Takako, Chuman, Hideki, Aihara, Makoto, Inatani, Masaru, Mori, Kazuhiko, Ikeda, Yoko, Ueno, Morio, Gaston, Daniel, Rafuse, Paul, Shuba, Lesya, Saunders, Joseph, Nicolela, Marcelo, Chichua, George, Tabagari, Sergo, Founti, Panayiota, Sim, Kar Seng, Meah, Wee Yang, Soo, Hui Meng, Chen, Xiao Yin, Chatzikyriakidou, Anthi, Keskini, Christina, Pappas, Theofanis, Anastasopoulos, Eleftherios, Lambropoulos, Alexandros, Panagiotou, Evangelia S., Mikropoulos, Dimitrios G., Kosior-Jarecka, Ewa, Cheong, Augustine, Li, Yuanhan, Lukasik, Urszula, Nongpiur, Monisha E., Husain, Rahat, Perera, Shamira A., Álvarez, Lydia, García, Montserrat, González-Iglesias, Héctor, Cueto, Andrés F. V., Cueto, Luis F. V., Martinón-Torres, Federico, Salas, Antonio, Oguz, Çilingir, Tamcelik, Nevbahar, Atalay, Eray, Batu, Bilge, Irkec, Murat, Aktas, Dilek, Kasım, Burcu, Astakhov, Yury S., Astakhov, Sergei Y., Akopov, Eugeny L., Giessl, Andreas, Mardin, Christian, Hellerbrand, Claus, Cooke Bailey, Jessica N., Igo, Robert P., Haines, Jonathan L., Edward, Deepak P., Heegaard, Steffen, Davila, Sonia, Tan, Patrick, Kang, Jae H., Pasquale, Louis R., Kruse, Friedrich E., Reis, André, Carmichael, Trevor R., Hauser, Michael, Ramsay, Michele, Mossböck, Georg, Yildirim, Nilgun, Tashiro, Kei, Konstas, Anastasios G. P., Coca-Prados, Miguel, Foo, Jia Nee, Kinoshita, Shigeru, Sotozono, Chie, Kubota, Toshiaki, Dubina, Michael, Ritch, Robert, Wiggs, Janey L., Pasutto, Francesca, Schlötzer-Schrehardt, Ursula, Ho, Ying Swan, Aung, Tin, Tam, Wai Leong, Khor, Chiea Chuen
Foilsithe in JAMA (2021)

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

le 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
Foilsithe in Nat Genet (2017)