Oligogenic Inheritance of Monoallelic TRIP11, FKBP10, NEK1, TBX5, and NBAS Variants Leading to a Phenotype Similar to Odontochondrodysplasia

Yazar: Costantini, Alice, Valta, Helena, Suomi, Anne-Maarit, Mäkitie, Outi, Taylan, Fulya
Yayımlandı Front Genet (2021)

Mutations in COL1A1/A2 and CREB3L1 are associated with oligodontia in osteogenesis imperfecta

Yazar: Andersson, Kristofer, Malmgren, Barbro, Åström, Eva, Nordgren, Ann, Taylan, Fulya, Dahllöf, Göran
Yayımlandı Orphanet J Rare Dis (2020)

A novel mutation in the interleukin-1 receptor antagonist associated with intrauterine disease onset

Yazar: Altiok, Ender, Aksoy, Figen, Perk, Yıldız, Taylan, Fulya, Kim, Peter W., Ilıkkan, Barbaros, Asal, Gülten Turkkani, Goldbach-Mansky, Raphaela, Sanal, Ozden
Baskı/Yayın Bilgisi 2012

Rare Copy Number Variants in Array-Based Comparative Genomic Hybridization in Early-Onset Skeletal Fragility

Yazar: Costantini, Alice, Skarp, Sini, Kämpe, Anders, Mäkitie, Riikka E., Pettersson, Maria, Männikkö, Minna, Jiao, Hong, Taylan, Fulya, Lindstrand, Anna, Mäkitie, Outi
Yayımlandı Front Endocrinol (Lausanne) (2018)

Predisposition to childhood acute lymphoblastic leukemia caused by a constitutional translocation disrupting ETV6

Yazar: Järviaho, Tekla, Bang, Benedicte, Zachariadis, Vasilios, Taylan, Fulya, Moilanen, Jukka, Möttönen, Merja, Smith, C. I. Edvard, Harila-Saari, Arja, Niinimäki, Riitta, Nordgren, Ann
Yayımlandı Blood Adv (2019)

High-resolution detection of chromosomal rearrangements in leukemias through mate pair whole genome sequencing

Yazar: Tran, Anh Nhi, Taylan, Fulya, Zachariadis, Vasilios, Ivanov Öfverholm, Ingegerd, Lindstrand, Anna, Vezzi, Francesco, Lötstedt, Britta, Nordenskjöld, Magnus, Nordgren, Ann, Nilsson, Daniel, Barbany, Gisela
Yayımlandı PLoS One (2018)

Mutations in Influenza A Virus (H5N1) and Possible Limited Spread, Turkey, 2006

Yazar: Altiok, Ender, Taylan, Fulya, Yenen, Osman Ş., Demirkeser, Gülşah, Bozaci, Mürvet, Önel, Derya, Akcadag, Birsen, Iyisan, A. Selma, Ciblak, Meral, Bozkaya, Emel, Yuksel, Sirin, Badur, Selim
Baskı/Yayın Bilgisi 2008

Early activating somatic PIK3CA mutations promote ectopic muscle development and upper limb overgrowth

Yazar: Frisk, Sofia, Taylan, Fulya, Blaszczyk, Izabela, Nennesmo, Inger, Annerén, Göran, Herm, Bettina, Stattin, Eva‐Lena, Zachariadis, Vasilios, Lindstrand, Anna, Tesi, Bianca, Laurell, Tobias, Nordgren, Ann
Yayımlandı Clin Genet (2019)

Ataxia in Patients With Bi-Allelic NFASC Mutations and Absence of Full-Length NF186

Yazar: Kvarnung, Malin, Shahsavani, Mansoureh, Taylan, Fulya, Moslem, Mohsen, Breeuwsma, Nicole, Laan, Loora, Schuster, Jens, Jin, Zhe, Nilsson, Daniel, Lieden, Agne, Anderlid, Britt-Marie, Nordenskjöld, Magnus, Syk Lundberg, Elisabeth, Birnir, Bryndis, Dahl, Niklas, Nordgren, Ann, Lindstrand, Anna, Falk, Anna
Yayımlandı Front Genet (2019)

Gain-of-function mutation of microRNA-140 in human skeletal dysplasia

Yazar: Grigelioniene, Giedre, Suzuki, Hiroshi I., Taylan, Fulya, Mirzamohammadi, Fatemeh, Borochowitz, Zvi U., Ayturk, Ugur M., Tzur, Shay, Horemuzova, Eva, Lindstrand, Anna, Weis, Mary Ann, Grigelionis, Gintautas, Hammarsjö, Anna, Marsk, Elin, Nordgren, Ann, Nordenskjöld, Magnus, Eyre, David R., Warman, Matthew L., Nishimura, Gen, Sharp, Phillip A., Kobayashi, Tatsuya
Yayımlandı Nat Med (2019)

Choline transporter mutations in severe congenital myasthenic syndrome disrupt transporter localization

Yazar: Wang, Haicui, Salter, Claire G, Refai, Osama, Hardy, Holly, Barwick, Katy E S, Akpulat, Ugur, Kvarnung, Malin, Chioza, Barry A, Harlalka, Gaurav, Taylan, Fulya, Sejersen, Thomas, Wright, Jane, Zimmerman, Holly H, Karakaya, Mert, Stüve, Burkhardt, Weis, Joachim, Schara, Ulrike, Russell, Mark A, Abdul-Rahman, Omar A, Chilton, John, Blakely, Randy D, Baple, Emma L, Cirak, Sebahattin, Crosby, Andrew H
Yayımlandı Brain (2017)

Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S, which Encode Subcomponents C1r and C1s of Complement

Yazar: Kapferer-Seebacher, Ines, Pepin, Melanie, Werner, Roland, Aitman, Timothy J., Nordgren, Ann, Stoiber, Heribert, Thielens, Nicole, Gaboriaud, Christine, Amberger, Albert, Schossig, Anna, Gruber, Robert, Giunta, Cecilia, Bamshad, Michael, Björck, Erik, Chen, Christina, Chitayat, David, Dorschner, Michael, Schmitt-Egenolf, Marcus, Hale, Christopher J., Hanna, David, Hennies, Hans Christian, Heiss-Kisielewsky, Irene, Lindstrand, Anna, Lundberg, Pernilla, Mitchell, Anna L., Nickerson, Deborah A., Reinstein, Eyal, Rohrbach, Marianne, Romani, Nikolaus, Schmuth, Matthias, Silver, Rachel, Taylan, Fulya, Vandersteen, Anthony, Vandrovcova, Jana, Weerakkody, Ruwan, Yang, Margaret, Pope, F. Michael, Byers, Peter H., Zschocke, Johannes
Yayımlandı Am J Hum Genet (2016)

A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation

Yazar: Ferreira, Carlos R., Xia, Zhi-Jie, Clément, Aurélie, Parry, David A., Davids, Mariska, Taylan, Fulya, Sharma, Prashant, Turgeon, Coleman T., Blanco-Sánchez, Bernardo, Ng, Bobby G., Logan, Clare V., Wolfe, Lynne A., Solomon, Benjamin D., Cho, Megan T., Douglas, Ganka, Carvalho, Daniel R., Bratke, Heiko, Haug, Marte Gjøl, Phillips, Jennifer B., Wegner, Jeremy, Tiemeyer, Michael, Aoki, Kazuhiro, Nordgren, Ann, Hammarsjö, Anna, Duker, Angela L., Rohena, Luis, Hove, Hanne Buciek, Ek, Jakob, Adams, David, Tifft, Cynthia J., Onyekweli, Tito, Weixel, Tara, Macnamara, Ellen, Radtke, Kelly, Powis, Zöe, Earl, Dawn, Gabriel, Melissa, Russi, Alvaro H. Serrano, Brick, Lauren, Kozenko, Mariya, Tham, Emma, Raymond, Kimiyo M., Phillips, John A., Tiller, George E., Wilson, William G., Hamid, Rizwan, Malicdan, May C.V., Nishimura, Gen, Grigelioniene, Giedre, Jackson, Andrew, Westerfield, Monte, Bober, Michael B., Gahl, William A., Freeze, Hudson H.
Yayımlandı Am J Hum Genet (2018)

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

Yazar: 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
Baskı/Yayın Bilgisi 2014