Not logged in Clinical and genetic aspects of Bardet-Biedl syndrome in adults in Norway Rustad, Cecilie Fremstad; Bragadottir, Ragnheidur; Tveten, Kristian; Nordgarden, Hilde; Miller, Jeanette Ullmann; Asten, Pamela Marika; Vasconcelos, Gisela; Kulseth, Mari Ann; Holla, oystein Lunde; Olsen, Hanne Gro; von der Lippe, Charlotte; Sigurdardottir, Solrun Share Save
Homozygous variants in WDR83OS lead to a neurodevelopmental disorder with hypercholanemia Barish, Scott; Lin, Sheng-Jia; Maroofian, Reza; Gezdirici, Alper; Alhebby, Hamoud; Trimouille, Aurelien; Waberski, Marta Biderman; Mitani, Tadahiro; Huber, Ilka; Tveten, Kristian; Holla, Oystein L.; Busk, Oyvind L.; Houlden, Henry; Karimiani, Ehsan Ghayoor; Toosi, Mehran Beiraghi; Badv, Reza Shervin; Torbati, Paria Najarzadeh; Eghbal, Fatemeh; Akhondian, Javad; Al Safar, Ayat; Alswaid, Abdulrahman; Zifarelli, Giovanni; Bauer, Peter; Marafi, Dana; Fatih, Jawid M.; Huang, Kevin; Petree, Cassidy; Calame, Daniel G.; von der Lippe, Charlotte; Alkuraya, Fowzan S.; Wali, Sami; Lupski, James R.; Varshney, Gaurav K.; Posey, Jennifer E.; Pehlivan, Davut Share Save
Comparison of the ABC and ACMG systems for variant classification Houge, Gunnar; Bratland, Eirik; Aukrust, Ingvild; Tveten, Kristian; Zukauskaite, Gabriele; Sansovic, Ivona; Brea-Fernandez, Alejandro J.; Mayer, Karin; Paakkola, Teija; McKenna, Caoimhe; Wright, William; Markovic, Milica Keckarevic; Lildballe, Dorte L.; Konecny, Michal; Smol, Thomas; Alhopuro, Pia; Gouttenoire, Estelle Arnaud; Obeid, Katharina; Todorova, Albena; Jankovic, Milena; Lubieniecka, Joanna M.; Stojiljkovic, Maja; Buisine, Marie-Pierre; Haukanes, Bjorn Ivar; Lorans, Marie; Roomere, Hanno; Petit, Francois M.; Haanpaa, Maria K.; Beneteau, Claire; Perez, Belen; Plaseska-Karanfilska, Dijana; Rath, Matthias; Fuhrmann, Nico; Ferreira, Bibiana I.; Stephanou, Coralea; Sjursen, Wenche; Maver, Ales; Rouzier, Cecile; Chirita-Emandi, Adela; Goncalves, Joao; Kuek, Wei Cheng David; Broly, Martin; Haer-Wigman, Lonneke; Thong, Meow-Keong; Tae, Sok-Kun; Hyblova, Michaela; den Dunnen, Johan T.; Laner, Andreas Share Save
Rare de novo gain-of-function missense variants in DOT1L are associated with developmental delay and congenital anomalies Nil, Zelha; Deshwar, Ashish R.; Huang, Yan; Barish, Scott; Zhang, Xi; Choufani, Sanaa; Stabej, Polona Le Quesne; Hayes, Ian; Yap, Patrick; Haldeman-Englert, Chad; Wilson, Carolyn; Prescott, Trine; Tveten, Kristian; Vollo, Arve; Haynes, Devon; Wheeler, Patricia G.; Zon, Jessica; Cytrynbaum, Cheryl; Jobling, Rebekah; Blyth, Moira; Banka, Siddharth; Afenjar, Alexandra; Mignot, Cyril; Robin-Renaldo, Florence; Keren, Boris; Kanca, Oguz; Mao, Xiao; Wegner, Daniel J.; Sisco, Kathleen; Shinawi, Marwan; Wangler, Michael F.; Weksberg, Rosanna; Yamamoto, Shinya; Costain, Gregory; Bellen, Hugo J. Share Save
Alternative polyadenylation alters protein dosage by switching between intronic and 3′UTR sites de Prisco, Nicola; Ford, Caitlin; Elrod, Nathan D.; Lee, Winston; Tang, Lauren C.; Huang, Kai-Lieh; Lin, Ai; Ji, Ping; Jonnakuti, Venkata S.; Boyle, Lia; Cabaj, Maximilian; Botta, Salvatore; ounap, Katrin; Reinson, Karit; Wojcik, Monica H.; Rosenfeld, Jill A.; Bi, Weimin; Tveten, Kristian; Prescott, Trine; Gerstner, Thorsten; Schroeder, Audrey; Fong, Chin-To; George-Abraham, Jaya K.; Buchanan, Catherine A.; Hanson-Khan, Andrea; Bernstein, Jonathan A.; Nella, Aikaterini A.; Chung, Wendy K.; Brandt, Vicky; Jovanovic, Marko; Targoff, Kimara L.; Yalamanchili, Hari Krishna; Wagner, Eric J.; Gennarino, Vincenzo A. Share Save
Genetic Epidemiology of Amyotrophic Lateral Sclerosis in Norway: A 2-Year Population-Based Study Olsen, Cathrine Goberg; Busk, Oyvind Lovold; Aanjesen, Tori Navestad; Alstadhaug, Karl Bjornar; Bjorna, Ingrid Kristine; Braathen, Geir Julius; Breivik, Kristin Lif; Demic, Natasha; Flemmen, Heidi Oyen; Hallerstig, Erika; HogenEsch, Ineke; Holla, Oystein Lunde; Jontvedt, Anne Berit; Kampman, Margitta T.; Kleveland, Grethe; Kvernmo, Helene Ballo; Ljostad, Unn; Maniaol, Angelina; Morsund, Ase Hagen; Nakken, Ola; Novy, Camilla; Rekand, Tiina; Schluter, Katrin; Schuler, Stephan; Tveten, Kristian; Tysnes, Ole-Bjorn; Holmoy, Trygve; Hoyer, Helle Share Save
KCND2 variants associated with global developmental delay differentially impair Kv4.2 channel gating Zhang, Yongqiang; Tachtsidis, Georgios; Schob, Claudia; Koko, Mahmoud; Hedrich, Ulrike B. S.; Lerche, Holger; Lemke, Johannes R.; van Haeringen, Arie; Ruivenkamp, Claudia; Prescott, Trine; Tveten, Kristian; Gerstner, Thorsten; Pruniski, Brianna; DiTroia, Stephanie; VanNoy, Grace E.; Rehm, Heidi L.; McLaughlin, Heather; Bolz, Hanno J.; Zechner, Ulrich; Bryant, Emily; McDonough, Tiffani; Kindler, Stefan; Baehring, Robert Share Save
Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature Rots, Dmitrijs; Chater-Diehl, Eric; Dingemans, Alexander J. M.; Goodman, Sarah J.; Siu, Michelle T.; Cytrynbaum, Cheryl; Choufani, Sanaa; Hoang, Ny; Walker, Susan; Awamleh, Zain; Charkow, Joshua; Meyn, Stephen; Pfundt, Rolph; Rinne, Tuula; Gardeitchik, Thatjana; de Vries, Bert B. A.; Deden, A. Chantal; Leenders, Erika; Kwint, Michael; Stumpel, Constance T. R. M.; Stevens, Servi J. C.; Vermeulen, Jeroen R.; van Harssel, Jeske V. T.; Bosch, Danielle G. M.; van Gassen, Koen L., I; van Binsbergen, Ellen; de Geus, Christa M.; Brackel, Hein; Hempel, Maja; Lessel, Davor; Denecke, Jonas; Slavotinek, Anne; Strober, Jonathan; Crunk, Amy; Folk, Leandra; Wentzensen, Ingrid M.; Yang, Hui; Zou, Fanggeng; Millan, Francisca; Person, Richard; Xie, Yili; Liu, Shuxi; Ousager, Lilian B.; Larsen, Martin; Schultz-Rogers, Laura; Morava, Eva; Klee, Eric W.; Berry, Ian R.; Campbell, Jennifer; Lindstrom, Kristin; Pruniski, Brianna; Neumeyer, Ann M.; Radley, Jessica A.; Phornphutkul, Chanika; Schmidt, Berkley; Wilson, William G.; Ounap, Katrin; Reinson, Karit; Pajusalu, Sander; van Haeringen, Arie; Ruivenkamp, Claudia; Cuperus, Roos; Santos-Simarro, Fernando; Palomares-Bralo, Maria; Pacio-Miguez, Marta; Ritter, Alyssa; Bhoj, Elizabeth; Tonne, Elin; Tveten, Kristian; Cappuccio, Gerarda; Brunetti-Pierri, Nicola; Rowe, Leah; Bunn, Jason; Saenz, Margarita; Platzer, Konrad; Mertens, Mareike; Caluseriu, Oana; Nowaczyk, Malgorzata J. M.; Cohn, Ronald D.; Kannu, Peter; Alkhunaizi, Ebba; Chitayat, David; Scherer, Stephen W.; Brunner, Han G.; Vissers, Lisenka E. L. M.; Kleefstra, Tjitske; Koolen, David A.; Weksberg, Rosanna Share Save
Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy Voisin, Norine; Schnur, Rhonda E.; Douzgou, Sofia; Hiatt, Susan M.; Rustad, Cecilie F.; Brown, Natasha J.; Earl, Dawn L.; Keren, Boris; Levchenko, Olga; Geuer, Sinje; Verheyen, Sarah; Johnson, Diana; Zarate, Yuri A.; Hancarova, Miroslava; Amor, David J.; Bebin, E. Martina; Blatterer, Jasmin; Brusco, Alfredo; Cappuccio, Gerarda; Charrow, Joel; Chatron, Nicolas; Cooper, Gregory M.; Courtin, Thomas; Dadali, Elena; Delafontaine, Julien; Del Giudice, Ennio; Doco, Martine; Douglas, Ganka; Eisenkolbl, Astrid; Funari, Tara; Giannuzzi, Giuliana; Gruber-Sedlmayr, Ursula; Guex, Nicolas; Heron, Delphine; Holla, Oystein L.; Hurst, Anna C. E.; Juusola, Jane; Kronn, David; Lavrov, Alexander; Lee, Crystle; Lorrain, Severine; Merckoll, Else; Mikhaleva, Anna; Norman, Jennifer; Pradervand, Sylvain; Prchalova, Darina; Rhodes, Lindsay; Sanders, Victoria R.; Sedlacek, Zdenek; Seebacher, Heidelis A.; Sellars, Elizabeth A.; Sirchia, Fabio; Takenouchi, Toshiki; Tanaka, Akemi J.; Taska-Tench, Heidi; Tonne, Elin; Tveten, Kristian; Vitiello, Giuseppina; Vlckova, Marketa; Uehara, Tomoko; Nava, Caroline; Yalcin, Binnaz; Kosaki, Kenjiro; Donnai, Dian; Mundlos, Stefan; Brunetti-Pierri, Nicola; Chung, Wendy K.; Reymond, Alexandre Share Save
Benefits of clinical criteria and high-throughput sequencing for diagnosing children with syndromic craniosynostosis Tonne, Elin; Due-Tonnessen, Bernt Johan; Mero, Inger-Lise; Wiig, Ulrikke Straume; Kulseth, Mari Ann; Vigeland, Magnus Dehli; Sheng, Ying; von der Lippe, Charlotte; Tveten, Kristian; Meling, Torstein Ragnar; Helseth, Eirik; Heimdal, Ketil Riddervold Share Save
De novo substitutions of TRPM3 cause intellectual disability and epilepsy Dyment, David A.; Terhal, Paulien A.; Rustad, Cecilie F.; Tveten, Kristian; Griffith, Christopher; Jayakar, Parul; Shinawi, Marwan; Ellingwood, Sara; Smith, Rosemarie; van Gassen, Koen; McWalter, Kirsty; Innes, A. Micheil; Lines, Matthew A. Share Save
De Novo Variants in TAOK1 Cause Neurodevelopmental Disorders Dulovic-Mahlow, Marija; Trinh, Joanne; Kandaswamy, Krishna Kumar; Braathen, Geir Julius; Di Donato, Nataliya; Rahikkala, Elisa; Beblo, Skadi; Werber, Martin; Krajka, Victor; Busk, Oyvind L.; Baumann, Hauke; Al-Sannaa, Nouriya Abbas; Hinrichs, Frauke; Affan, Rabea; Navot, Nir; Al Balwi, Mohammed A.; Oprea, Gabriela; Holla, Oystein L.; Weiss, Maximilian E. R.; Jamra, Rami A.; Kahlert, Anne-Karin; Kishore, Shivendra; Tveten, Kristian; Vos, Melissa; Rolfs, Arndt; Lohmann, Katja Share Save
Calmodulin mutations and life-threatening cardiac arrhythmias: insights from the International Calmodulinopathy Registry Crotti, Lia; Spazzolini, Carla; Tester, David J.; Ghidoni, Alice; Baruteau, Alban-Elouen; Beckmann, Britt-Maria; Behr, Elijah R.; Bennett, Jeffrey S.; Bezzina, Connie R.; Bhuiyan, Zahurul A.; Celiker, Alpay; Cerrone, Marina; Dagradi, Federica; De Ferrari, Gaetano M.; Etheridge, Susan P.; Fatah, Meena; Garcia-Pavia, Pablo; Al-Ghamdi, Saleh; Hamilton, Robert M.; Al-Hassnan, Zuhair N.; Horie, Minoru; Jimenez-Jaimez, Juan; Kanter, Ronald J.; Kaski, Juan P.; Kotta, Maria-Christina; Lahrouchi, Najim; Makita, Naomasa; Norrish, Gabrielle; Odland, Hans H.; Ohno, Seiko; Papagiannis, John; Parati, Gianfranco; Sekarski, Nicole; Tveten, Kristian; Vatta, Matteo; Webster, Gregory; Wilde, Arthur A. M.; Wojciak, Julianne; George, Alfred L., Jr.; Ackerman, Michael J.; Schwartz, Peter J. Share Save
Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies Yuan, Bo; Neira, Juanita; Pehlivan, Davut; Santiago-Sim, Teresa; Song, Xiaofei; Rosenfeld, Jill; Posey, Jennifer E.; Patel, Vipulkumar; Jin, Weihong; Adam, Margaret P.; Baple, Emma L.; Dean, John; Fong, Chin-To; Hickey, Scott E.; Hudgins, Louanne; Leon, Eyby; Madan-Khetarpal, Suneeta; Rawlins, Lettie; Rustad, Cecilie F.; Stray-Pedersen, Asbjorg; Tveten, Kristian; Wenger, Olivia; Diaz, Jullianne; Jenkins, Laura; Martin, Laura; McGuire, Marianne; Pietryga, Marguerite; Ramsdell, Linda; Slattery, Leah; Abid, Farida; Bertuch, Alison A.; Grange, Dorothy; Immken, LaDonna; Schaaf, Christian P.; Van Esch, Hilde; Bi, Weimin; Cheung, Sau Wai; Breman, Amy M.; Smith, Janice L.; Shaw, Chad; Crosby, Andrew H.; Eng, Christine; Yang, Yaping; Lupski, James R.; Xiao, Rui; Liu, Pengfei Share Save
Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability Cogne, Benjamin; Ehresmann, Sophie; Beauregard-Lacroix, Eliane; Rousseau, Justine; Besnard, Thomas; Garcia, Thomas; Petrovski, Slave; Avni, Shiri; McWalter, Kirsty; Blackburn, Patrick R.; Sanders, Stephan J.; Uguen, Kevin; Harris, Jacqueline; Cohen, Julie S.; Blyth, Moira; Lehman, Anna; Berg, Jonathan; Li, Mindy H.; Kini, Usha; Joss, Shelagh; von der Lippe, Charlotte; Gordon, Christopher T.; Humberson, Jennifer B.; Robak, Laurie; Scott, Daryl A.; Sutton, Vernon R.; Skraban, Cara M.; Johnston, Jennifer J.; Poduri, Annapurna; Nordenskjold, Magnus; Shashi, Vandana; Gerkes, Erica H.; Bongers, Ernie M. H. F.; Gilissen, Christian; Zarate, Yuri A.; Kvarnung, Malin; Lally, Kevin P.; Kulch, Peggy A.; Daniels, Brina; Hernandez-Garcia, Andres; Stong, Nicholas; McGaughran, Julie; Retterer, Kyle; Tveten, Kristian; Sullivan, Jennifer; Geisheker, Madeleine R.; Stray-Pedersen, Asbjorg; Tarpinian, Jennifer M.; Klee, Eric W.; Sapp, Julie C.; Zyskind, Jacob; Holla, Oystein L.; Bedoukian, Emma; Filippini, Francesca; Guimier, Anne; Picard, Arnaud; Busk, Oyvind L.; Punetha, Jaya; Pfundt, Rolph; Lindstrand, Anna; Nordgren, Ann; Kalb, Fayth; Desai, Megha; Ebanks, Ashley Harmon; Jhangiani, Shalini N.; Dewan, Tammie; Akdemir, Zeynep H. Coban; Telegrafi, Aida; Zackai, Elaine H.; Begtrup, Amber; Song, Xiaofei; Toutain, Annick; Wentzensen, Ingrid M.; Odent, Sylvie; Bonneau, Dominique; Latypova, Xenia; Deb, Wallid; Redon, Sylvia; Bilan, Frederic; Legendre, Marine; Troyer, Caitlin; Whitlock, Kerri; Caluseriu, Oana; Murphree, Marine, I; Pichurin, Pavel N.; Agre, Katherine; Gavrilova, Ralitza; Rinne, Tuula; Park, Meredith; Shain, Catherine; Heinzen, Erin L.; Xiao, Rui; Amiel, Jeanne; Lyonnet, Stanislas; Isidor, Bertrand; Biesecker, Leslie G.; Lowenstein, Dan; Posey, Jennifer E.; Denomme-Pichon, Anne-Sophie; Ferec, Claude; Yang, Xiang-Jiao; Rosenfeld, Jill A.; Gilbert-Dussardier, Brigitte; Audebert-Bellanger, Severine; Redon, Richard; Stessman, Holly A. F.; Nellaker, Christoffer; Yang, Yaping; Lupski, James R.; Goldstein, David B.; Eichler, Evan E.; Bolduc, Francois; Bezieau, Stephane; Kury, Sebastien; Campeau, Philippe M. Share Save
De novo variants in FBXO11 cause a syndromic form of intellectual disability with behavioral problems and dysmorphisms Jansen, Sandra; van der Werf, Ilse M.; Innes, A. Micheil; Afenjar, Alexandra; Agrawal, Pankaj B.; Anderson, Ilse J.; Atwal, Paldeep S.; van Binsbergen, Ellen; van den Boogaard, Marie-Jose; Castiglia, Lucia; Coban-Akdemir, Zeynep H.; van Dijck, Anke; Doummar, Diane; van Eerde, Albertien M.; van Essen, Anthonie J.; van Gassen, Koen L.; Sacoto, Maria J. Guillen; van Haelst, Mieke M.; Iossifov, Ivan; Jackson, Jessica L.; Judd, Elizabeth; Kaiwar, Charu; Keren, Boris; Klee, Eric W.; Wassink-Ruiter, Jolien S. Klein; Meuwissen, Marije E.; Monaghan, Kristin G.; de Munnik, Sonja A.; Nava, Caroline; Ockeloen, Charlotte W.; Pettinato, Rosa; Racher, Hilary; Rinne, Tuula; Romano, Corrado; Sanders, Victoria R.; Schnur, Rhonda E.; Smeets, Eric J.; Stegmann, Alexander P. A.; Stray-Pedersen, Asbjorg; Sweetser, David A.; Terhal, Paulien A.; Tveten, Kristian; VanNoy, Grace E.; de Vries, Petra F.; Waxler, Jessica L.; Willing, Marcia; Pfundt, Rolph; Veltman, Joris A.; Kooy, R. Frank; Vissers, Lisenka E. L. M.; de Vries, Bert B. A. Share Save
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De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability Kury, Sebastien; van Woerden, Geeske M.; Besnard, Thomas; Onori, Martina Proietti; Latypova, Xenia; Towne, Meghan C.; Cho, Megan T.; Prescott, Trine E.; Ploeg, Melissa A.; Sanders, Stephan; Stessman, Holly A. F.; Pujol, Aurora; Ben Distel; Robak, Laurie A.; Bernstein, Jonathan A.; Denomme-Pichon, Anne-Sophie; Lesca, Gaetan; Sellars, Elizabeth A.; Berg, Jonathan; Carre, Wilfrid; Busk, Oyvind Lovold; van Bon, Bregje W. M.; Waugh, Jeff L.; Deardorff, Matthew; Hoganson, George E.; Bosanko, Katherine B.; Johnson, Diana S.; Dabir, Tabib; Holla, Oystein Lunde; Sarkar, Ajoy; Tveten, Kristian; de Bellescize, Julitta; Braathen, Geir J.; Terhal, Paulien A.; Grange, Dorothy K.; van Haeringen, Arie; Lam, Christina; Mirzaa, Ghayda; Burton, Jennifer; Bhoj, Elizabeth J.; Douglas, Jessica; Santani, Avni B.; Nesbitt, Addie I.; Helbig, Katherine L.; Andrews, Marisa V.; Begtrup, Amber; Tang, Sha; van Gassen, Koen L. I.; Juusola, Jane; Foss, Kimberly; Enns, Gregory M.; Moog, Ute; Hinderhofer, Katrin; Paramasivam, Nagarajan; Lincoln, Sharyn; Kusako, Brandon H.; Lindenbaum, Pierre; Charpentier, Eric; Nowak, Catherine B.; Cherot, Elouan; Simonet, Thomas; Ruivenkamp, Claudia A. L.; Hahn, Sihoun; Brownstein, Catherine A.; Xia, Fan; Schmitt, Sebastien; Deb, Wallid; Bonneau, Dominique; Nizon, Mathilde; Quinquis, Delphine; Chelly, Jamel; Rudolf, Gabrielle; Sanlaville, Damien; Parent, Philippe; Gilbert-Dussardier, Brigitte; Toutain, Annick; Sutton, Vernon R.; Thies, Jenny; Peart-Vissers, Lisenka E. L. M.; Boisseau, Pierre; Vincent, Marie; Grabrucker, Andreas M.; Dubourg, Christele; Tan, Wen-Hann; Verbeek, Nienke E.; Granzow, Martin; Santen, Gijs W. E.; Shendure, Jay; Isidor, Bertrand; Pasquier, Laurent; Redon, Richard; Yang, Yaping; State, Matthew W.; Kleefstra, Tjitske; Cogne, Benjamin; Petrovski, Slave; Retterer, Kyle; Eichler, Evan E.; Rosenfeld, Jill A.; Agrawal, Pankaj B.; Bezieau, Stephane; Odent, Sylvie; Elgersma, Ype; Mercier, Sandra Share Save
Next-generation sequencing of the monogenic obesity genes LEP, LEPR, MC4R, PCSK1 and POMC in a Norwegian cohort of patients with morbid obesity and normal weight controls Nordang, Gry B. N.; Busk, Oyvind L.; Tveten, Kristian; Hanevik, Hans Ivar; Fell, Anne Kristin M.; Hjelmesaeth, Joran; Holla, Oystein L.; Hertel, Jens K. Share Save
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