Coping, quality of life, and hope in adults with primary antibody deficiencies

por Sigstad, Hanne Marie Høybråten, Stray-Pedersen, Asbjørg, Frøland, Stig S
Publicado 2005

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

por Samarakoon, Pubudu Saneth, Sorte, Hanne Sørmo, Stray-Pedersen, Asbjørg, Rødningen, Olaug Kristin, Rognes, Torbjørn, Lyle, Robert
Publicado 2016

Recommendations for uniform definitions used in newborn screening for severe combined immunodeficiency

por Blom, Maartje, Zetterstroöm, Rolf H., Stray-Pedersen, Asbjørg, Gilmour, Kimberly, Gennery, Andrew R., Puck, Jennifer M., van der Burg, Mirjam
Publicado 2022

Novel PIGT Variant in Two Brothers: Expansion of the Multiple Congenital Anomalies-Hypotonia Seizures Syndrome 3 Phenotype

por Skauli, Nadia, Wallace, Sean, Chiang, Samuel C. C., Barøy, Tuva, Holmgren, Asbjørn, Stray-Pedersen, Asbjørg, Bryceson, Yenan T., Strømme, Petter, Frengen, Eirik, Misceo, Doriana
Publicado 2016

Dystonia-deafness syndrome caused by ACTB p.Arg183Trp heterozygosity shows striatal dopaminergic dysfunction and response to pallidal stimulation

por Skogseid, Inger Marie, Røsby, Oddveig, Konglund, Ane, Connelly, James P., Nedregaard, Bård, Jablonski, Greg Eigner, Kvernmo, Nadja, Stray-Pedersen, Asbjørg, Glover, Joel C.
Publicado 2018

Identification of copy number variants from exome sequence data

por 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
Publicado 2014

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

por 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
Publicado 2018

Haploinsufficiency of two histone modifier genes on 6p22.3, ATXN1 and JARID2, is associated with intellectual disability

por Barøy, Tuva, Misceo, Doriana, Strømme, Petter, Stray-Pedersen, Asbjørg, Holmgren, Asbjørn, Rødningen, Olaug Kristin, Blomhoff, Anne, Helle, Johan Robert, Stormyr, Alice, Tvedt, Bjørn, Fannemel, Madeleine, Frengen, Eirik
Publicado 2013

First Case of CD40LG Deficiency in Ecuador, Diagnosed after Whole Exome Sequencing in a Patient with Severe Cutaneous Histoplasmosis

por Pedroza, Luis Alberto, Guerrero, Nina, Stray-Pedersen, Asbjørg, Tafur, Cristina, Macias, Roque, Muñoz, Greta, Akdemir, Zeynep Coban, Jhangiani, Shalini N., Watkin, Levi B., Chinn, Ivan K., Lupski, James R., Orange, Jordan S.
Publicado 2017

Novel Combined Immune Deficiency and Radiation Sensitivity Blended Phenotype in an Adult with Biallelic Variations in ZAP70 and RNF168

por Chinn, Ivan K., Sanders, Robert P., Stray-Pedersen, Asbjørg, Coban-Akdemir, Zeynep H., Kim, Vy Hong-Diep, Dadi, Harjit, Roifman, Chaim M., Quigg, Troy, Lupski, James R., Orange, Jordan S., Hanson, I. Celine
Publicado 2017

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 2019

A Nationwide Study of GATA2 Deficiency in Norway—the Majority of Patients Have Undergone Allo-HSCT

por Jørgensen, Silje F., Buechner, Jochen, Myhre, Anders E., Galteland, Eivind, Spetalen, Signe, Kulseth, Mari Ann, Sorte, Hanne S., Holla, Øystein L., Lundman, Emma, Alme, Charlotte, Heier, Ingvild, Flægstad, Trond, Fløisand, Yngvar, Benneche, Andreas, Fevang, Børre, Aukrust, Pål, Stray-Pedersen, Asbjørg, Gedde-Dahl, Tobias, Nordøy, Ingvild
Publicado 2021

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

por 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
Publicado 2016

Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort

por Gambin, Tomasz, Akdemir, Zeynep C., Yuan, Bo, Gu, Shen, Chiang, Theodore, Carvalho, Claudia M.B., Shaw, Chad, Jhangiani, Shalini, Boone, Philip M., Eldomery, Mohammad K., Karaca, Ender, Bayram, Yavuz, Stray-Pedersen, Asbjørg, Muzny, Donna, Charng, Wu-Lin, Bahrambeigi, Vahid, Belmont, John W., Boerwinkle, Eric, Beaudet, Arthur L., Gibbs, Richard A., Lupski, James R.
Publicado 2017

Biallelic variants in KIF14 cause intellectual disability with microcephaly

por 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.
Publicado 2018

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

por 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
Publicado 2020

Performance of Expanded Newborn Screening in Norway Supported by Post-Analytical Bioinformatics Tools and Rapid Second-Tier DNA Analyses

por Tangeraas, Trine, Sæves, Ingjerd, Klingenberg, Claus, Jørgensen, Jens, Kristensen, Erle, Gunnarsdottir, Gunnþórunn, Hansen, Eirik Vangsøy, Strand, Janne, Lundman, Emma, Ferdinandusse, Sacha, Salvador, Cathrin Lytomt, Woldseth, Berit, Bliksrud, Yngve T., Sagredo, Carlos, Olsen, Øyvind E., Berge, Mona C., Trømborg, Anette Kjoshagen, Ziegler, Anders, Zhang, Jin Hui, Sørgjerd, Linda Karlsen, Ytre-Arne, Mari, Hogner, Silje, Løvoll, Siv M., Kløvstad Olavsen, Mette R., Navarrete, Dionne, Gaup, Hege J., Lilje, Rina, Zetterström, Rolf H., Stray-Pedersen, Asbjørg, Rootwelt, Terje, Rinaldo, Piero, Rowe, Alexander D., Pettersen, Rolf D.
Publicado 2020

The Extended Clinical Phenotype of 26 Patients with Chronic Mucocutaneous Candidiasis due to Gain-of-Function Mutations in STAT1

por Depner, Mark, Fuchs, Sebastian, Raabe, Jan, Frede, Natalie, Glocker, Cristina, Doffinger, Rainer, Gkrania-Klotsas, Effrossyni, Kumararatne, Dinakantha, Atkinson, T. Prescott, Schroeder, Harry W., Niehues, Tim, Dückers, Gregor, Stray-Pedersen, Asbjørg, Baumann, Ulrich, Schmidt, Reinhold, Franco, Jose L., Orrego, Julio, Ben-Shoshan, Moshe, McCusker, Christine, Jacob, Cristina Miuki Abe, Carneiro-Sampaio, Magda, Devlin, Lisa A., Edgar, J. David M., Henderson, Paul, Russell, Richard K., Skytte, Anne-Bine, Seneviratne, Suranjith L., Wanders, Jennifer, Stauss, Hans, Meyts, Isabelle, Moens, Leen, Jesenak, Milos, Kobbe, Robin, Borte, Stephan, Borte, Michael, Wright, Dowain A., Hagin, David, Torgerson, Troy R., Grimbacher, Bodo
Publicado 2015

Lessons learned from additional research analyses of unsolved clinical exome cases

por Eldomery, Mohammad K., Coban-Akdemir, Zeynep, Harel, Tamar, Rosenfeld, Jill A., Gambin, Tomasz, Stray-Pedersen, Asbjørg, Küry, Sébastien, Mercier, Sandra, Lessel, Davor, Denecke, Jonas, Wiszniewski, Wojciech, Penney, Samantha, Liu, Pengfei, Bi, Weimin, Lalani, Seema R., Schaaf, Christian P., Wangler, Michael F., Bacino, Carlos A., Lewis, Richard Alan, Potocki, Lorraine, Graham, Brett H., Belmont, John W., Scaglia, Fernando, Orange, Jordan S., Jhangiani, Shalini N., Chiang, Theodore, Doddapaneni, Harsha, Hu, Jianhong, Muzny, Donna M., Xia, Fan, Beaudet, Arthur L., Boerwinkle, Eric, Eng, Christine M., Plon, Sharon E., Sutton, V. Reid, Gibbs, Richard A., Posey, Jennifer E., Yang, Yaping, Lupski, James R.
Publicado 2017

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 2018