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

por Costantini, Alice, Valta, Helena, Suomi, Anne-Maarit, Mäkitie, Outi, Taylan, Fulya
Publicado 2021

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

por Andersson, Kristofer, Malmgren, Barbro, Åström, Eva, Nordgren, Ann, Taylan, Fulya, Dahllöf, Göran
Publicado 2020

A somatic UBA2 variant preceded ETV6-RUNX1 in the concordant BCP-ALL of monozygotic twins

por Bang, Benedicte, Eisfeldt, Jesper, Barbany, Gisela, Harila-Saari, Arja, Heyman, Mats, Zachariadis, Vasilios, Taylan, Fulya, Nordgren, Ann
Publicado 2022

International Undiagnosed Diseases Programs (UDPs): components and outcomes

por Curic, Ela, Ewans, Lisa, Pysar, Ryan, Taylan, Fulya, Botto, Lorenzo D., Nordgren, Ann, Gahl, William, Palmer, Elizabeth Emma
Publicado 2023

Mosaic Deletions of Known Genes Explain Skeletal Dysplasias With High and Low Bone Mass

por Muurinen, Mari, Taylan, Fulya, Tournis, Symeon, Eisfeldt, Jesper, Balanika, Alexia, Vastardis, Heleni, Ala‐Mello, Sirpa, Mäkitie, Outi, Costantini, Alice
Publicado 2022

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

por Costantini, Alice, Skarp, Sini, Kämpe, Anders, Mäkitie, Riikka E., Pettersson, Maria, Männikkö, Minna, Jiao, Hong, Taylan, Fulya, Lindstrand, Anna, Mäkitie, Outi
Publicado 2018

Detection of germline mosaicism in fathers of children with intellectual disability syndromes caused by de novo variants

por Frisk, Sofia, Wachtmeister, Alexandra, Laurell, Tobias, Lindstrand, Anna, Jäntti, Nina, Malmgren, Helena, Lagerstedt‐Robinson, Kristina, Tesi, Bianca, Taylan, Fulya, Nordgren, Ann
Publicado 2022

A complex DICER1 syndrome phenotype associated with a germline pathogenic variant affecting the RNase IIIa domain of DICER1

por Pontén, Emeli, Frisk, Sofia, Taylan, Fulya, Vaz, Raquel, Wessman, Sandra, de Kock, Leanne, Pal, Niklas, Foulkes, William D, Lagerstedt-Robinson, Kristina, Nordgren, Ann
Publicado 2022

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

por Tran, Anh Nhi, Taylan, Fulya, Zachariadis, Vasilios, Ivanov Öfverholm, Ingegerd, Lindstrand, Anna, Vezzi, Francesco, Lötstedt, Britta, Nordenskjöld, Magnus, Nordgren, Ann, Nilsson, Daniel, Barbany, Gisela
Publicado 2018

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

por 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
Publicado 2008

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

por 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
Publicado 2019

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

por 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
Publicado 2019

A missense mutation converts the Na(+),K(+)-ATPase into an ion channel and causes therapy-resistant epilepsy

por Ygberg, Sofia, Akkuratov, Evgeny E., Howard, Rebecca J., Taylan, Fulya, Jans, Daniel C., Mahato, Dhani R., Katz, Adriana, Kinoshita, Paula F., Portal, Benjamin, Nennesmo, Inger, Lindskog, Maria, Karlish, Steven J.D., Andersson, Magnus, Lindstrand, Anna, Brismar, Hjalmar, Aperia, Anita
Publicado 2021

Register-based and genetic studies of Prader-Willi syndrome show a high frequency of gonadal tumors and a possible mechanism for tumorigenesis through imprinting relaxation

por Maya-González, Carolina, Wessman, Sandra, Lagerstedt-Robinson, Kristina, Taylan, Fulya, Tesi, Bianca, Kuchinskaya, Ekaterina, McCluggage, W. Glenn, Poluha, Anna, Holm, Stefan, Nergårdh, Ricard, Díaz De Ståhl, Teresita, Höybye, Charlotte, Tettamanti, Giorgio, Delgado-Vega, Angelica Maria, Skarin Nordenvall, Anna, Nordgren, Ann
Publicado 2023

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

por 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
Publicado 2019

High diagnostic yield in skeletal ciliopathies using massively parallel genome sequencing, structural variant screening and RNA analyses

por Hammarsjö, Anna, Pettersson, Maria, Chitayat, David, Handa, Atsuhiko, Anderlid, Britt-Marie, Bartocci, Marco, Basel, Donald, Batkovskyte, Dominyka, Beleza-Meireles, Ana, Conner, Peter, Eisfeldt, Jesper, Girisha, Katta M., Chung, Brian Hon-Yin, Horemuzova, Eva, Hyodo, Hironobu, Korņejeva, Liene, Lagerstedt-Robinson, Kristina, Lin, Angela E., Magnusson, Måns, Moosa, Shahida, Nayak, Shalini S., Nilsson, Daniel, Ohashi, Hirofumi, Ohashi-Fukuda, Naoko, Stranneheim, Henrik, Taylan, Fulya, Traberg, Rasa, Voss, Ulrika, Wirta, Valtteri, Nordgren, Ann, Nishimura, Gen, Lindstrand, Anna, Grigelioniene, Giedre
Publicado 2021

Diagnostic Yield From a Nationwide Implementation of Precision Medicine for all Children With Cancer

por Wadensten, Elisabeth, Wessman, Sandra, Abel, Frida, Diaz De Ståhl, Teresita, Tesi, Bianca, Orsmark Pietras, Christina, Arvidsson, Linda, Taylan, Fulya, Fransson, Susanne, Vogt, Hartmut, Poluha, Anna, Pradhananga, Sailendra, Hellberg, Maria, Lagerstedt-Robinson, Kristina, Raj Somarajan, Praveen, Samuelsson, Sofie, Orrsjö, Sara, Maqbool, Khurram, Henning, Karin, Strid, Tobias, Ek, Torben, Fagman, Henrik, Olsson Bontell, Thomas, Martinsson, Tommy, Puls, Florian, Kogner, Per, Wirta, Valtteri, Pronk, Cornelis Jan, Wille, Joakim, Rosenquist, Richard, Nistér, Monica, Mertens, Fredrik, Sabel, Magnus, Norén-Nyström, Ulrika, Grillner, Pernilla, Nordgren, Ann, Ljungman, Gustaf, Sandgren, Johanna, Gisselsson, David
Publicado 2023

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

por 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
Publicado 2016

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

por 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
Publicado 2014