SomatiCA: Identifying, Characterizing and Quantifying Somatic Copy Number Aberrations from Cancer Genome Sequencing Data

by Chen, Mengjie, Gunel, Murat, Zhao, Hongyu
Published 2013

Functional Synergy between Cholecystokinin Receptors CCKAR and CCKBR in Mammalian Brain Development

by Nishimura, Sayoko, Bilgüvar, Kaya, Ishigame, Keiko, Sestan, Nenad, Günel, Murat, Louvi, Angeliki
Published 2015

A patient with a novel homozygous missense mutation in FTO and concomitant nonsense mutation in CETP

by Çağlayan, Ahmet Okay, Tüysüz, Beyhan, Coşkun, Süleyman, Quon, Jennifer, Harmanci, Akdes Serin, Baranoski, Jacob F., Baran, Burçin, Erson-Omay, E. Zeynep, Henegariu, Octavian, Mane, Shrikant M., Bilgüvar, Kaya, Yasuno, Katsuhito, Günel, Murat
Published 2016

Intracranial Aneurysm Risk Locus 5q23.2 Is Associated with Elevated Systolic Blood Pressure

by Gaál, Emília Ilona, Salo, Perttu, Kristiansson, Kati, Rehnström, Karola, Kettunen, Johannes, Sarin, Antti-Pekka, Niemelä, Mika, Jula, Antti, Raitakari, Olli T., Lehtimäki, Terho, Eriksson, Johan G., Widen, Elisabeth, Günel, Murat, Kurki, Mitja, von und zu Fraunberg, Mikael, Jääskeläinen, Juha E., Hernesniemi, Juha, Järvelin, Marjo-Riitta, Pouta, Anneli, Newton-Cheh, Christopher, Salomaa, Veikko, Palotie, Aarno, Perola, Markus
Published 2012

IDH-mutant glioma specific association of rs55705857 located at 8q24.21 involves MYC deregulation

by Oktay, Yavuz, Ülgen, Ege, Can, Özge, Akyerli, Cemaliye B., Yüksel, Şirin, Erdemgil, Yiğit, Durası, İ. Melis, Henegariu, Octavian Ioan, Nanni, E. Paolo, Selevsek, Nathalie, Grossmann, Jonas, Erson-Omay, E. Zeynep, Bai, Hanwen, Gupta, Manu, Lee, William, Turcan, Şevin, Özpınar, Aysel, Huse, Jason T., Sav, M. Aydın, Flanagan, Adrienne, Günel, Murat, Sezerman, O. Uğur, Yakıcıer, M. Cengiz, Pamir, M. Necmettin, Özduman, Koray
Published 2016

Digenic mutations of human OCRL paralogs in Dent’s disease type 2 associated with Chiari I malformation

by Duran, Daniel, Jin, Sheng Chih, DeSpenza, Tyrone, Nelson-Williams, Carol, Cogal, Andrea G, Abrash, Elizabeth W, Harris, Peter C, Lieske, John C, Shimshak, Serena JE, Mane, Shrikant, Bilguvar, Kaya, DiLuna, Michael L, Günel, Murat, Lifton, Richard P, Kahle, Kristopher T
Published 2016

Whole‐exome sequencing defines the mutational landscape of pheochromocytoma and identifies KMT2D as a recurrently mutated gene

by Juhlin, C. Christofer, Stenman, Adam, Haglund, Felix, Clark, Victoria E., Brown, Taylor C., Baranoski, Jacob, Bilguvar, Kaya, Goh, Gerald, Welander, Jenny, Svahn, Fredrika, Rubinstein, Jill C., Caramuta, Stefano, Yasuno, Katsuhito, Günel, Murat, Bäckdahl, Martin, Gimm, Oliver, Söderkvist, Peter, Prasad, Manju L., Korah, Reju, Lifton, Richard P., Carling, Tobias
Published 2015

EXCEPTIONAL AGGRESSIVENESS OF CEREBRAL CAVERNOUS MALFORMATION DISEASE ASSOCIATED WITH PDCD10 MUTATIONS

by Shenkar, Robert, Shi, Changbin, Rebeiz, Tania, Stockton, Rebecca A., McDonald, David A., Mikati, Abdul Ghani, Zhang, Lingjiao, Austin, Cecilia, Akers, Amy L., Gallione, Carol J., Rorrer, Autumn, Gunel, Murat, Min, Wang, De Souza, Jorge Marcondes, Lee, Connie, Marchuk, Douglas A., Awad, Issam A.
Published 2014

Whole exome sequencing identifies recessive WDR62 mutations in severe brain malformations

by Bilgüvar, Kaya, Öztürk, Ali Kemal, Louvi, Angeliki, Kwan, Kenneth Y, Choi, Murim, Tatli, Burak, Yalnizoğlu, Dilek, Tüysüz, Beyhan, Çağlayan, Ahmet Okay, Gökben, Sarenur, Kaymakçalan, Hande, Barak, Tanyeri, Bakircioğlu, Mehmet, Yasuno, Katsuhito, Ho, Winson, Sanders, Stephan, Zhu, Ying, Yilmaz, Sanem, Dinçer, Alp, Johnson, Michele H, Bronen, Richard A, Koçer, Naci, Per, Hüseyin, Mane, Shrikant, Pamir, Mehmet Necmettin, Yalçinkaya, Cengiz, Kumandaş, Sefer, Topçu, Meral, Özmen, Meral, Šestan, Nenad, Lifton, Richard P, State, Matthew W, Günel, Murat
Published 2010

High Risk Population Isolate Reveals Low Frequency Variants Predisposing to Intracranial Aneurysms

by Kurki, Mitja I., Gaál, Emília Ilona, Kettunen, Johannes, Lappalainen, Tuuli, Menelaou, Androniki, Anttila, Verneri, van 't Hof, Femke N. G., von und zu Fraunberg, Mikael, Helisalmi, Seppo, Hiltunen, Mikko, Lehto, Hanna, Laakso, Aki, Kivisaari, Riku, Koivisto, Timo, Ronkainen, Antti, Rinne, Jaakko, Kiemeney, Lambertus A. L., Vermeulen, Sita H., Kaunisto, Mari A., Eriksson, Johan G., Aromaa, Arpo, Perola, Markus, Lehtimäki, Terho, Raitakari, Olli T., Salomaa, Veikko, Gunel, Murat, Dermitzakis, Emmanouil T., Ruigrok, Ynte M., Rinkel, Gabriel J. E., Niemelä, Mika, Hernesniemi, Juha, Ripatti, Samuli, de Bakker, Paul I. W., Palotie, Aarno, Jääskeläinen, Juha E.
Published 2014

Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction

by Akizu, Naiara, Cantagrel, Vincent, Zaki, Maha S., Al-Gazali, Lihadh, Wang, Xin, Rosti, Rasim Ozgur, Dikoglu, Esra, Gelot, Antoinette Bernabe, Rosti, Basak, Vaux, Keith K., Scott, Eric M., Silhavy, Jennifer L., Schroth, Jana, Copeland, Brett, Schaffer, Ashleigh E., Gordts, Philip, Esko, Jeffrey D., Buschman, Matthew D., Fields, Seth J., Napolitano, Gennaro, Ozgul, R. Koksal, Sagiroglu, Mahmut Samil, Azam, Matloob, Ismail, Samira, Aglan, Mona, Selim, Laila, Gamal, Iman, Hadi, Sawsan Abdel, El Badawy, Amera, Sadek, Abdelrahim A., Mojahedi, Faezeh, Kayserili, Hulya, Masri, Amira, Bastaki, Laila, Temtamy, Samia, Müller, Ulrich, Desguerre, Isabelle, Casanova, Jean-Laurent, Dursun, Ali, Gunel, Murat, Gabriel, Stacey B., de Lonlay, Pascale, Gleeson, Joseph G.
Published 2015

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge

by Brownstein, Catherine A, Beggs, Alan H, Homer, Nils, Merriman, Barry, Yu, Timothy W, Flannery, Katherine C, DeChene, Elizabeth T, Towne, Meghan C, Savage, Sarah K, Price, Emily N, Holm, Ingrid A, Luquette, Lovelace J, Lyon, Elaine, Majzoub, Joseph, Neupert, Peter, McCallie Jr, David, Szolovits, Peter, Willard, Huntington F, Mendelsohn, Nancy J, Temme, Renee, Finkel, Richard S, Yum, Sabrina W, Medne, Livija, Sunyaev, Shamil R, Adzhubey, Ivan, Cassa, Christopher A, de Bakker, Paul IW, Duzkale, Hatice, Dworzyński, Piotr, Fairbrother, William, Francioli, Laurent, Funke, Birgit H, Giovanni, Monica A, Handsaker, Robert E, Lage, Kasper, Lebo, Matthew S, Lek, Monkol, Leshchiner, Ignaty, MacArthur, Daniel G, McLaughlin, Heather M, Murray, Michael F, Pers, Tune H, Polak, Paz P, Raychaudhuri, Soumya, Rehm, Heidi L, Soemedi, Rachel, Stitziel, Nathan O, Vestecka, Sara, Supper, Jochen, Gugenmus, Claudia, Klocke, Bernward, Hahn, Alexander, Schubach, Max, Menzel, Mortiz, Biskup, Saskia, Freisinger, Peter, Deng, Mario, Braun, Martin, Perner, Sven, Smith, Richard JH, Andorf, Janeen L, Huang, Jian, Ryckman, Kelli, Sheffield, Val C, Stone, Edwin M, Bair, Thomas, Black-Ziegelbein, E Ann, Braun, Terry A, Darbro, Benjamin, DeLuca, Adam P, Kolbe, Diana L, Scheetz, Todd E, Shearer, Aiden E, Sompallae, Rama, Wang, Kai, Bassuk, Alexander G, Edens, Erik, Mathews, Katherine, Moore, Steven A, Shchelochkov, Oleg A, Trapane, Pamela, Bossler, Aaron, Campbell, Colleen A, Heusel, Jonathan W, Kwitek, Anne, Maga, Tara, Panzer, Karin, Wassink, Thomas, Van Daele, Douglas, Azaiez, Hela, Booth, Kevin, Meyer, Nic, Segal, Michael M, Williams, Marc S, Tromp, Gerard, White, Peter, Corsmeier, Donald, Fitzgerald-Butt, Sara, Herman, Gail, Lamb-Thrush, Devon, McBride, Kim L, Newsom, David, Pierson, Christopher R, Rakowsky, Alexander T, Maver, Aleš, Lovrečić, Luca, Palandačić, Anja, Peterlin, Borut, Torkamani, Ali, Wedell, Anna, Huss, Mikael, Alexeyenko, Andrey, Lindvall, Jessica M, Magnusson, Måns, Nilsson, Daniel, Stranneheim, Henrik, Taylan, Fulya, Gilissen, Christian, Hoischen, Alexander, van Bon, Bregje, Yntema, Helger, Nelen, Marcel, Zhang, Weidong, Sager, Jason, Zhang, Lu, Blair, Kathryn, Kural, Deniz, Cariaso, Michael, Lennon, Greg G, Javed, Asif, Agrawal, Saloni, Ng, Pauline C, Sandhu, Komal S, Krishna, Shuba, Veeramachaneni, Vamsi, Isakov, Ofer, Halperin, Eran, Friedman, Eitan, Shomron, Noam, Glusman, Gustavo, Roach, Jared C, Caballero, Juan, Cox, Hannah C, Mauldin, Denise, Ament, Seth A, Rowen, Lee, Richards, Daniel R, Lucas, F Anthony San, Gonzalez-Garay, Manuel L, Caskey, C Thomas, Bai, Yu, Huang, Ying, Fang, Fang, Zhang, Yan, Wang, Zhengyuan, Barrera, Jorge, Garcia-Lobo, Juan M, González-Lamuño, Domingo, Llorca, Javier, Rodriguez, Maria C, Varela, Ignacio, Reese, Martin G, De La Vega, Francisco M, Kiruluta, Edward, Cargill, Michele, Hart, Reece K, Sorenson, Jon M, Lyon, Gholson J, Stevenson, David A, Bray, Bruce E, Moore, Barry M, Eilbeck, Karen, Yandell, Mark, Zhao, Hongyu, Hou, Lin, Chen, Xiaowei, Yan, Xiting, Chen, Mengjie, Li, Cong, Yang, Can, Gunel, Murat, Li, Peining, Kong, Yong, Alexander, Austin C, Albertyn, Zayed I, Boycott, Kym M, Bulman, Dennis E, Gordon, Paul MK, Innes, A Micheil, Knoppers, Bartha M, Majewski, Jacek, Marshall, Christian R, Parboosingh, Jillian S, Sawyer, Sarah L, Samuels, Mark E, Schwartzentruber, Jeremy, Kohane, Isaac S, Margulies, David M
Published 2014