Germline PTEN mutations are rare and highly penetrant

por Rustad Cecilie F, Bjørnslett Merete, Heimdal Ketil R, Mæhle Lovise, Apold Jaran, Møller Pål
Publicado 2006-12-01

Germline PTEN mutations are rare and highly penetrant

por Rustad, Cecilie F, Bjørnslett, Merete, Heimdal, Ketil R, Mæhle, Lovise, Apold, Jaran, Møller, Pål
Publicado 2006

High prevalence of symptomatic spinal stenosis in Norwegian adults with achondroplasia: a population-based study

por Fredwall, Svein O., Steen, Unni, de Vries, Olga, Rustad, Cecilie F., Eggesbø, Heidi Beate, Weedon-Fekjær, Harald, Lidal, Ingeborg B., Savarirayan, Ravi, Månum, Grethe
Publicado en Orphanet J Rare Dis (2020)

Correction to: High prevalence of symptomatic spinal stenosis in Norwegian adults with achondroplasia: a population-based study

por Fredwall, Svein O., Steen, Unni, de Vries, Olga, Rustad, Cecilie F., Eggesbø, Heidi Beate, Weedon-Fekjær, Harald, Lidal, Ingeborg B., Savarirayan, Ravi, Månum, Grethe
Publicado en Orphanet J Rare Dis (2020)

De novo substitutions of TRPM3 cause intellectual disability and epilepsy

por 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.
Publicado en Eur J Hum Genet (2019)

The Discovery of a LEMD2-Associated Nuclear Envelopathy with Early Progeroid Appearance Suggests Advanced Applications for AI-Driven Facial Phenotyping

por Marbach, Felix, Rustad, Cecilie F., Riess, Angelika, Đukić, Dejan, Hsieh, Tzung-Chien, Jobani, Itamar, Prescott, Trine, Bevot, Andrea, Erger, Florian, Houge, Gunnar, Redfors, Maria, Altmueller, Janine, Stokowy, Tomasz, Gilissen, Christian, Kubisch, Christian, Scarano, Emanuela, Mazzanti, Laura, Fiskerstrand, Torunn, Krawitz, Peter M., Lessel, Davor, Netzer, Christian
Publicado en Am J Hum Genet (2019)

Nordic Guidelines for Germline Predisposition to Myeloid Neoplasms in Adults: Recommendations for Genetic Diagnosis, Clinical Management and Follow-up

por Baliakas, Panagiotis, Tesi, Bianca, Wartiovaara-Kautto, Ulla, Stray-Pedersen, Asbjørg, Friis, Lone Smidstrup, Dybedal, Ingunn, Hovland, Randi, Jahnukainen, Kirsi, Raaschou-Jensen, Klas, Ljungman, Per, Rustad, Cecilie F., Lautrup, Charlotte K., Kilpivaara, Outi, Kittang, Astrid Olsnes, Grønbæk, Kirsten, Cammenga, Jörg, Hellström-Lindberg, Eva, Andersen, Mette K.
Publicado en Hemasphere (2019)

Mutations in LZTR1 add to the complex heterogeneity of schwannomatosis

por Smith, Miriam J., Isidor, Bertand, Beetz, Christian, Williams, Simon G., Bhaskar, Sanjeev S., Richer, Wilfrid, O'Sullivan, James, Anderson, Beverly, Daly, Sarah B., Urquhart, Jill E., Fryer, Alan, Rustad, Cecilie F., Mills, Samantha J., Samii, Amir, du Plessis, Daniel, Halliday, Dorothy, Barbarot, Sebastien, Bourdeaut, Franck, Newman, William G., Evans, D. Gareth
Publicado en Neurology (2015)

Axial Spondylometaphyseal Dysplasia Is Caused by C21orf2 Mutations

por Wang, Zheng, Iida, Aritoshi, Miyake, Noriko, Nishiguchi, Koji M., Fujita, Kosuke, Nakazawa, Toru, Alswaid, Abdulrahman, Albalwi, Mohammed A., Kim, Ok-Hwa, Cho, Tae-Joon, Lim, Gye-Yeon, Isidor, Bertrand, David, Albert, Rustad, Cecilie F., Merckoll, Else, Westvik, Jostein, Stattin, Eva-Lena, Grigelioniene, Giedre, Kou, Ikuyo, Nakajima, Masahiro, Ohashi, Hirohumi, Smithson, Sarah, Matsumoto, Naomichi, Nishimura, Gen, Ikegawa, Shiro
Publicado en PLoS One (2016)

Heterozygous mutations affecting the protein kinase domain of CDK13 cause a syndromic form of developmental delay and intellectual disability

por Hamilton, Mark J, Caswell, Richard C, Canham, Natalie, Cole, Trevor, Firth, Helen V, Foulds, Nicola, Heimdal, Ketil, Hobson, Emma, Houge, Gunnar, Joss, Shelagh, Kumar, Dhavendra, Lampe, Anne Katrin, Maystadt, Isabelle, McKay, Victoria, Metcalfe, Kay, Newbury-Ecob, Ruth, Park, Soo-Mi, Robert, Leema, Rustad, Cecilie F, Wakeling, Emma, Wilkie, Andrew O M, Study, The Deciphering Developmental Disorders, Twigg, Stephen R F, Suri, Mohnish
Publicado en J Med Genet (2018)

PGM3 Mutations Cause a Congenital Disorder of Glycosylation with Severe Immunodeficiency and Skeletal Dysplasia

por Stray-Pedersen, Asbjørg, Backe, Paul H., Sorte, Hanne S., Mørkrid, Lars, Chokshi, Niti Y., Erichsen, Hans Christian, Gambin, Tomasz, Elgstøen, Katja B.P., Bjørås, Magnar, Wlodarski, Marcin W., Krüger, Marcus, Jhangiani, Shalini N., Muzny, Donna M., Patel, Ankita, Raymond, Kimiyo M., Sasa, Ghadir S., Krance, Robert A., Martinez, Caridad A., Abraham, Shirley M., Speckmann, Carsten, Ehl, Stephan, Hall, Patricia, Forbes, Lisa R., Merckoll, Else, Westvik, Jostein, Nishimura, Gen, Rustad, Cecilie F., Abrahamsen, Tore G., Rønnestad, Arild, Osnes, Liv T., Egeland, Torstein, Rødningen, Olaug K., Beck, Christine R., Boerwinkle, Eric A., Gibbs, Richard A., Lupski, James R., Orange, Jordan S., Lausch, Ekkehart, Hanson, I. Celine
Publicado 2014

Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies

por 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, Asbjørg, Tveten, Kristian, Wenger, Olivia, Diaz, Jullianne, Jenkins, Laura, Martin, Laura, McGuire, Marianne, Pietryga, Marguerite, Ramsdell, Linda, Slattery, Leah, Abid, Farida, Bertuch, Alison, 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
Publicado en Genet Med (2018)

Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy

por 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., Hančárová, 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, Eisenkölbl, Astrid, Funari, Tara, Giannuzzi, Giuliana, Gruber-Sedlmayr, Ursula, Guex, Nicolas, Heron, Delphine, Holla, Øystein L., Hurst, Anna C.E., Juusola, Jane, Kronn, David, Lavrov, Alexander, Lee, Crystle, Lorrain, Séverine, Merckoll, Else, Mikhaleva, Anna, Norman, Jennifer, Pradervand, Sylvain, Prchalová, Darina, Rhodes, Lindsay, Sanders, Victoria R., Sedláček, Zdeněk, Seebacher, Heidelis A., Sellars, Elizabeth A., Sirchia, Fabio, Takenouchi, Toshiki, Tanaka, Akemi J., Taska-Tench, Heidi, Tønne, Elin, Tveten, Kristian, Vitiello, Giuseppina, Vlčková, Markéta, Uehara, Tomoko, Nava, Caroline, Yalcin, Binnaz, Kosaki, Kenjiro, Donnai, Dian, Mundlos, Stefan, Brunetti-Pierri, Nicola, Chung, Wendy K., Reymond, Alexandre
Publicado en Am J Hum Genet (2021)

Primary immunodeficiency diseases – genomic approaches delineate heterogeneous Mendelian disorders

por Stray-Pedersen, Asbjørg, Sorte, Hanne Sørmo, Samarakoon, Pubudu, Gambin, Tomasz, Chinn, Ivan K., Akdemir, Zeynep H. Coban, Erichsen, Hans Christian, Forbes, Lisa R., Gu, Shen, Yuan, Bo, Jhangiani, Shalini N., Muzny, Donna M., Rødningen, Olaug Kristin, Sheng, Ying, Nicholas, Sarah K., Noroski, Lenora M., Seeborg, Filiz O., Davis, Carla, Canter, Debra, Mace, Emily M., Vece, Tim, Allen, Carl E., Abhyankar, Harshal A., Boone, Phil, Beck, Christine R., Wiszniewski, Wojciech Krysztof, Fevang, Børre, Aukrust, Pål, Tjønnfjord, Geir E, Gedde-Dahl, Tobias, Hjorth-Hansen, Henrik, Dybedal, Ingunn, Nordøy, Ingvild, Jørgensen, Silje F., Abrahamsen, Tore G., Øverland, Torstein, Bechensteen, Anne Grete, Skogen, Vegard, Osnes, Liv T., Kulseth, Mari Ann, Prescott, Trine E., Rustad, Cecilie F., Heimdal, Ketil R., Belmont, John W., Rider, Nicholas, Chinen, Javier, Cao, Tram, Smith, Eric, Caldirola, Maria Soledad, Bezrodnik, Liliana, Reyes, Saul Oswaldo Lugo, Rosales, Francisco J. Espinosa, Guerrero, Denisse, Pedroza, Luis Alberto, Poli, Cecilia M., Franco, Jose L., Vargas, Claudia M. Trujillo, Becerra, Juan Carlos Aldave, Wright, Nicola, Issekutz, Thomas B., Issekutz, Andrew C., Abbott, Jordan, Caldwell, Jason W., Bayer, Diana K., Chan, Alice Y., Aiuti, Alessandro, Cancrini, Caterina, Holmberg, Eva, West, Christina, Burstedt, Magnus, Karaca, Ender, Yesil, Gozde, Artac, Hasibe, Bayram, Yavuz, Atik, Mehmed Musa, Eldomery, Mohammad K., Ehlayel, Mohammad S., Jolles, Stephen, Flatø, Berit, Bertuch, Alison A., Hanson, I. Celine, Zhang, Victor W., Wong, Lee-Jun, Hu, Jianhong, Walkiewicz, Magdalena, Yang, Yaping, Eng, Christine, Boerwinkle, Eric, Gibbs, Richard A., Shearer, William T., Lyle, Robert, Orange, Jordan S., Lupski, James R.
Publicado en J Allergy Clin Immunol (2016)