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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
BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations Peron, Angela; D'Arco, Felice; Aldinger, Kimberly A.; Smith-Hicks, Constance; Zweier, Christiane; Gradek, Gyri A.; Bradbury, Kimberley; Accogli, Andrea; Andersen, Erica F.; Au, Ping Yee Billie; Battini, Roberta; Beleford, Daniah; Bird, Lynne M.; Bouman, Arjan; Bruel, Ange-Line; Busk, Oyvind Lovold; Campeau, Philippe M.; Capra, Valeria; Carlston, Colleen; Carmichael, Jenny; Chassevent, Anna; Clayton-Smith, Jill; Bamshad, Michael J.; Earl, Dawn L.; Faivre, Laurence; Philippe, Christophe; Ferreira, Patrick; Graul-Neumann, Luitgard; Green, Mary J.; Haffner, Darrah; Haldipur, Parthiv; Hanna, Suhair; Houge, Gunnar; Jones, Wendy D.; Kraus, Cornelia; Kristiansen, Birgit Elisabeth; Lespinasse, James; Low, Karen J.; Lynch, Sally Ann; Maia, Sofia; Mao, Rong; Kalinauskiene, Ruta; Melver, Catherine; McDonald, Kimberly; Montgomery, Tara; Morleo, Manuela; Motter, Constance; Openshaw, Amanda S.; Palumbos, Janice Cox; Parikh, Aditi Shah; Perilla-Young, Yezmin; Powell, Cynthia M.; Person, Richard; Desai, Megha; Piard, Juliette; Pfundt, Rolph; Scala, Marcello; Serey-Gaut, Margaux; Shears, Deborah; Slavotinek, Anne; Suri, Mohnish; Turner, Claire; Tvrdik, Tatiana; Weiss, Karin; Wentzensen, Ingrid M.; Zollino, Marcella; Hsieh, Tzung-Chien; de Vries, Bert B. A.; Guillemot, Francois; Dobyns, William B.; Viskochil, David; Dias, Cristina Share Save
Repeat expansions in AR, ATXN1, ATXN2 and HTT in Norwegian patients diagnosed with amyotrophic lateral sclerosis Novy, Camilla; Busk, Oyvind L.; Tysnes, Ole-Bjorn; Landa, Sigve S.; Aanjesen, Tori N.; Alstadhaug, Karl B.; Bjerknes, Tale L.; Bjorna, Ingrid K.; Brathen, Geir; Dahl, Elin; Demic, Natasha; Fahlstrom, Maria; Flemmen, Heidi O.; Hallerstig, Erika; HogenEsch, Ineke; Kampman, Margitta T.; Kleveland, Grethe; Kvernmo, Helene B.; Ljostad, Unn; Maniaol, Angelina; Morsund, Aase Hagen; Nakken, Ola; Olsen, Cathrine G.; Schluter, Katrin; Utvik, May-Sissel; Yaseen, Ryaz; Holla, Oystein L.; Holmoy, Trygve; Hoyer, Helle 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
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NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns Stamberger, Hannah; Hammer, Trine B.; Gardella, Elena; Vlaskamp, Danique R. M.; Bertelsen, Birgitte; Mandelstam, Simone; de Lange, Iris; Zhang, Jing; Myers, Candace T.; Fenger, Christina; Afawi, Zaid; Fuerte, Edith P. Almanza; Andrade, Danielle M.; Balcik, Yunus; Ben Zeev, Bruria; Bennett, Mark F.; Berkovic, Samuel F.; Isidor, Bertrand; Bouman, Arjan; Brilstra, Eva; Busk, Oyvind L.; Cairns, Anita; Caumes, Roseline; Chatron, Nicolas; Dale, Russell C.; de Geus, Christa; Edery, Patrick; Gill, Deepak; Granild-Jensen, Jacob Bie; Gunderson, Lauren; Gunning, Boudewijn; Heimer, Gali; Helle, Johan R.; Hildebrand, Michael S.; Hollingsworth, Georgie; Kharytonov, Volodymyr; Klee, Eric W.; Koeleman, Bobby P. C.; Koolen, David A.; Korff, Christian; Kury, Sebastien; Lesca, Gaetan; Lev, Dorit; Leventer, Richard J.; Mackay, Mark T.; Macke, Erica L.; McEntagart, Meriel; Mohammad, Shekeeb S.; Monin, Pauline; Montomoli, Martino; Morava, Eva; Moutton, Sebastien; Muir, Alison M.; Parrini, Elena; Procopis, Peter; Ranza, Emmanuelle; Reed, Laura; Reif, Philipp S.; Rosenow, Felix; Rossi, Massimiliano; Sadleir, Lynette G.; Sadoway, Tara; Schelhaas, Helenius J.; Schneider, Amy L.; Shah, Krati; Shalev, Ruth; Sisodiya, Sanjay M.; Smol, Thomas; Stumpel, Connie T. R. M.; Stuurman, Kyra; Symonds, Joseph D.; Mau-Them, Frederic Tran; Verbeek, Nienke; Verhoeven, Judith S.; Wallace, Geoffrey; Yosovich, Keren; Zarate, Yuri A.; Zerem, Ayelet; Zuberi, Sameer M.; Guerrini, Renzo; Mefford, Heather C.; Patel, Chirag; Zhang, Yue-Hua; Moller, Rikke S.; Scheffer, Ingrid E. 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
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
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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
A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay Schoch, Kelly; Meng, Linyan; Szelinger, Szabolcs; Bearden, David R.; Stray-Pedersen, Asbjorg; Busk, Oyvind L.; Stong, Nicholas; Liston, Eriskay; Cohn, Ronald D.; Scaglia, Fernando; Rosenfeld, Jill A.; Tarpinian, Jennifer; Skraban, Cara M.; Deardorff, Matthew A.; Friedman, Jeremy N.; Akdemir, Zeynep Coban; Walley, Nicole; Mikati, Mohamad A.; Kranz, Peter G.; Jasien, Joan; McConkie-Rosell, Allyn; McDonald, Marie; Wechsler, Stephanie Burns; Freemark, Michael; Kansagra, Sujay; Freedman, Sharon; Bali, Deeksha; Millan, Francisca; Bale, Sherri; Nelson, Stanley F.; Lee, Hane; Dorrani, Naghmeh; Goldstein, David B.; Xiao, Rui; Yang, Yaping; Posey, Jennifer E.; Martinez-Agosto, Julian A.; Lupski, James R.; Wangler, Michael F.; Shashi, Vandana Share Save
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