Diagnosis by sequencing: correction of misdiagnosis from FSHD2 to LGMD2A by whole-exome analysis

بواسطة Leidenroth, Andreas, Sorte, Hanne Sørmo, Gilfillan, Gregor, Ehrlich, Melanie, Lyle, Robert, Hewitt, Jane E
منشور في 2012

cnvScan: a CNV screening and annotation tool to improve the clinical utility of computational CNV prediction from exome sequencing data

بواسطة Samarakoon, Pubudu Saneth, Sorte, Hanne Sørmo, Stray-Pedersen, Asbjørg, Rødningen, Olaug Kristin, Rognes, Torbjørn, Lyle, Robert
الحاوية / القاعدة BMC Genomics (2016)

Identification of copy number variants from exome sequence data

بواسطة Samarakoon, Pubudu Saneth, Sorte, Hanne Sørmo, Kristiansen, Bjørn Evert, Skodje, Tove, Sheng, Ying, Tjønnfjord, Geir E, Stadheim, Barbro, Stray-Pedersen, Asbjørg, Rødningen, Olaug Kristin, Lyle, Robert
منشور في 2014

Runaway Train: A Leaky Radiosensitive SCID with Skin Lesions and Multiple Lymphomas

بواسطة Fevang, Børre, Fagerli, Unn Merete, Sorte, Hanne, Aarset, Harald, Hov, Håkon, Langmyr, Marit, Keil, Thomas Morten, Bjørge, Ellen, Aukrust, Pål, Stray-Pedersen, Asbjørg, Gedde-Dahl, Tobias
الحاوية / القاعدة Case Reports Immunol (2018)

Exome Sequencing Fails to Identify the Genetic Cause of Aicardi Syndrome

بواسطة Lund, Caroline, Striano, Pasquale, Sorte, Hanne Sørmo, Parisi, Pasquale, Iacomino, Michele, Sheng, Ying, Vigeland, Magnus D., Øye, Anne-Marte, Møller, Rikke Steensbjerre, Selmer, Kaja K., Zara, Federico
الحاوية / القاعدة Mol Syndromol (2016)

A potential founder variant in CARMIL2/RLTPR in three Norwegian families with warts, molluscum contagiosum, and T‐cell dysfunction

بواسطة Sorte, Hanne S., Osnes, Liv T., Fevang, Børre, Aukrust, Pål, Erichsen, Hans C., Backe, Paul H., Abrahamsen, Tore G., Kittang, Ole B., Øverland, Torstein, Jhangiani, Shalini N., Muzny, Donna M., Vigeland, Magnus D., Samarakoon, Pubudu, Gambin, Tomasz, Akdemir, Zeynep H. C., Gibbs, Richard A., Rødningen, Olaug K., Lyle, Robert, Lupski, James R., Stray‐Pedersen, Asbjørg
الحاوية / القاعدة Mol Genet Genomic Med (2016)

Compound Heterozygous CORO1A Mutations in Siblings with a Mucocutaneous-Immunodeficiency Syndrome of Epidermodysplasia Verruciformis-HPV, Molluscum Contagiosum and Granulomatous Tu...

بواسطة Stray-Pedersen, Asbjorg, Jouanguy, Emmanuelle, Crequer, Amandine, Bertuch, Alison A., Brown, Betty S., Jhangiani, Shalini N., Muzny, Donna M., Gambin, Tomasz, Sorte, Hanne, Sasa, Ghadir, Metry, Denise, Campbell, Judith, Sockrider, Marianna M., Dishop, Megan K., Scollard, David M., Gibbs, Richard A., Mace, Emily M., Orange, Jordan S., Lupski, James R., Casanova, Jean-Laurent, Noroski, Lenora M.
الحاوية / القاعدة J Clin Immunol (2014)

Biallelic variants in KIF14 cause intellectual disability with microcephaly

بواسطة Makrythanasis, Periklis, Maroofian, Reza, Stray-Pedersen, Asbjørg, Musaev, Damir, Zaki, Maha S., Mahmoud, Iman G., Selim, Laila, Elbadawy, Amera, Jhangiani, Shalini N., Coban Akdemir, Zeynep H., Gambin, Tomasz, Sorte, Hanne S., Heiberg, Arvid, McEvoy-Venneri, Jennifer, James, Kiely N., Stanley, Valentina, Belandres, Denice, Guipponi, Michel, Santoni, Federico A., Ahangari, Najmeh, Tara, Fatemeh, Doosti, Mohammad, Iwaszkiewicz, Justyna, Zoete, Vincent, Backe, Paul Hoff, Hamamy, Hanan, Gleeson, Joseph G., Lupski, James R., Karimiani, Ehsan Ghayoor, Antonarakis, Stylianos E.
الحاوية / القاعدة Eur J Hum Genet (2018)

Second-Tier Next Generation Sequencing Integrated in Nationwide Newborn Screening Provides Rapid Molecular Diagnostics of Severe Combined Immunodeficiency

بواسطة Strand, Janne, Gul, Kiran Aftab, Erichsen, Hans Christian, Lundman, Emma, Berge, Mona C., Trømborg, Anette K., Sørgjerd, Linda K., Ytre-Arne, Mari, Hogner, Silje, Halsne, Ruth, Gaup, Hege Junita, Osnes, Liv T., Kro, Grete A. B., Sorte, Hanne S., Mørkrid, Lars, Rowe, Alexander D., Tangeraas, Trine, Jørgensen, Jens V., Alme, Charlotte, Bjørndalen, Trude E. H., Rønnestad, Arild E., Lang, Astri M., Rootwelt, Terje, Buechner, Jochen, Øverland, Torstein, Abrahamsen, Tore G., Pettersen, Rolf D., Stray-Pedersen, Asbjørg
الحاوية / القاعدة Front Immunol (2020)

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

بواسطة 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
منشور في 2014

Early-onset lymphoproliferation and autoimmunity caused by germline STAT3 gain-of-function mutations

بواسطة Milner, Joshua D., Vogel, Tiphanie P., Forbes, Lisa, Ma, Chi A., Stray-Pedersen, Asbjørg, Niemela, Julie E., Lyons, Jonathan J., Engelhardt, Karin R., Zhang, Yu, Topcagic, Nermina, Roberson, Elisha D. O., Matthews, Helen, Verbsky, James W., Dasu, Trivikram, Vargas-Hernandez, Alexander, Varghese, Nidhy, McClain, Kenneth L., Karam, Lina B., Nahmod, Karen, Makedonas, George, Mace, Emily M., Sorte, Hanne S., Perminow, Gøri, Rao, V. Koneti, O’Connell, Michael P., Price, Susan, Su, Helen C., Butrick, Morgan, McElwee, Joshua, Hughes, Jason D., Willet, Joseph, Swan, David, Xu, Yaobo, Santibanez-Koref, Mauro, Slowik, Voytek, Dinwiddie, Darrell L., Ciaccio, Christina E., Saunders, Carol J., Septer, Seth, Kingsmore, Stephen F., White, Andrew J., Cant, Andrew J., Hambleton, Sophie, Cooper, Megan A.
الحاوية / القاعدة Blood (2015)

Primary immunodeficiency diseases – genomic approaches delineate heterogeneous Mendelian disorders

بواسطة 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.
الحاوية / القاعدة J Allergy Clin Immunol (2016)