Ohcanbohtosat - Frengen, Eirik

Regulated expression of a transgene introduced on an oriP/EBNA-1 PAC shuttle vector into human cells Dahkki Askautrud, Hanne A, Gjernes, Elisabet, Størvold, Gro L, Lindeberg, Mona M, Thorsen, Jim, Prydz, Hans, Frengen, Eirik

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A Bacterial Artificial Chromosome Library for Sequencing the Complete Human Genome Dahkki Osoegawa, Kazutoyo, Mammoser, Aaron G., Wu, Chenyan, Frengen, Eirik, Zeng, Changjiang, Catanese, Joseph J., de Jong, Pieter J.

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A highly redundant BAC library of Atlantic salmon (Salmo salar): an important tool for salmon projects Dahkki Thorsen, Jim, Zhu, Baoli, Frengen, Eirik, Osoegawa, Kazutoyo, de Jong, Pieter J, Koop, Ben F, Davidson, William S, Høyheim, Bjørn

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A Core MYC Gene Expression Signature Is Prominent in Basal-Like Breast Cancer but Only Partially Overlaps the Core Serum Response Dahkki Chandriani, Sanjay, Frengen, Eirik, Cowling, Victoria H., Pendergrass, Sarah A., Perou, Charles M., Whitfield, Michael L., Cole, Michael D.

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Segregation of Incomplete Achromatopsia and Alopecia Due to PDE6H and LPAR6 Variants in a Consanguineous Family from Pakistan Dahkki Pedurupillay, Christeen Ramane J., Landsend, Erlend Christoffer Sommer, Vigeland, Magnus Dehli, Ansar, Muhammad, Frengen, Eirik, Misceo, Doriana, Strømme, Petter

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A recurrent deletion on chromosome 2q13 is associated with developmental delay and mild facial dysmorphisms Dahkki Hladilkova, Eva, Barøy, Tuva, Fannemel, Madeleine, Vallova, Vladimira, Misceo, Doriana, Bryn, Vesna, Slamova, Iva, Prasilova, Sarka, Kuglik, Petr, Frengen, Eirik

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Bacterial Artificial Chromosome Libraries for Mouse Sequencing and Functional Analysis Dahkki Osoegawa, Kazutoyo, Tateno, Minako, Woon, Peng Yeong, Frengen, Eirik, Mammoser, Aaron G., Catanese, Joseph J., Hayashizaki, Yoshihide, de Jong, Pieter J.

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Global Gene Expression Analysis Reveals a Link between NDRG1 and Vesicle Transport Dahkki Askautrud, Hanne A., Gjernes, Elisabet, Gunnes, Gjermund, Sletten, Marit, Ross, Douglas T., Børresen-Dale, Anne Lise, Iversen, Nina, Tranulis, Michael A., Frengen, Eirik

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Novel PIGT Variant in Two Brothers: Expansion of the Multiple Congenital Anomalies-Hypotonia Seizures Syndrome 3 Phenotype Dahkki Skauli, Nadia, Wallace, Sean, Chiang, Samuel C. C., Barøy, Tuva, Holmgren, Asbjørn, Stray-Pedersen, Asbjørg, Bryceson, Yenan T., Strømme, Petter, Frengen, Eirik, Misceo, Doriana

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Sudden death in epilepsy and ectopic neurohypophysis in Joubert syndrome 23 diagnosed using SNVs/indels and structural variants pipelines on WGS data: a case report Dahkki Sumathipala, Dulika, Strømme, Petter, Gilissen, Christian, Einarsen, Ingunn Holm, Bjørndalen, Hilde J., Server, Andrés, Corominas, Jordi, Hassel, Bjørnar, Fannemel, Madeleine, Misceo, Doriana, Frengen, Eirik

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Spastic Paraplegia Type 7 Is Associated with Multiple Mitochondrial DNA Deletions Dahkki Wedding, Iselin Marie, Koht, Jeanette, Tran, Gia Tuong, Misceo, Doriana, Selmer, Kaja Kristine, Holmgren, Asbjørn, Frengen, Eirik, Bindoff, Laurence, Tallaksen, Chantal M. E., Tzoulis, Charalampos

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

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Imaging tumor-stroma interactions during chemotherapy reveals contributions of the microenvironment to resistance Dahkki Nakasone, Elizabeth S., Askautrud, Hanne A., Kees, Tim, Park, Jae-Hyun, Plaks, Vicki, Ewald, Andrew J., Fein, Miriam, Rasch, Morten G., Tan, Ying-Xim, Qiu, Jing, Park, Juwon, Sinha, Pranay, Bissell, Mina J., Frengen, Eirik, Werb, Zena, Egeblad, Mikala

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STIM1 R304W causes muscle degeneration and impaired platelet activation in mice Dahkki Gamage, Thilini H., Gunnes, Gjermund, Lee, Robert Hugh, Louch, William Edward, Holmgren, Asbjørn, Bruton, Joseph D., Lengle, Emma, Kolstad, Terje R. Selnes, Revold, Tobias, Amundsen, Silja Svanstrøm, Dalen, Knut Tomas, Holme, Pål Andre, Tjønnfjord, Geir Erland, Christensen, Geir, Westerblad, Håkan, Klungland, Arne, Bergmeier, Wolfgang, Misceo, Doriana, Frengen, Eirik

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ZBTB11 dysfunction: spectrum of brain abnormalities, biochemical signature and cellular consequences Dahkki Sumathipala, Dulika, Strømme, Petter, Fattahi, Zohreh, Lüders, Torben, Sheng, Ying, Kahrizi, Kimia, Einarsen, Ingunn Holm, Sloan, Jennifer L, Najmabadi, Hossein, van den Heuvel, Lambert, Wevers, Ron A, Guerrero-Castillo, Sergio, Mørkrid, Lars, Valayannopoulos, Vassili, Backe, Paul Hoff, Venditti, Charles P, van Karnebeek, Clara D, Nilsen, Hilde, Frengen, Eirik, Misceo, Doriana

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Human TGF-β1 deficiency causes severe inflammatory bowel disease and encephalopathy Dahkki Kotlarz, Daniel, Marquardt, Benjamin, Barøy, Tuva, Lee, Way S., Konnikova, Liza, Hollizeck, Sebastian, Magg, Thomas, Lehle, Anna S., Walz, Christoph, Borggraefe, Ingo, Hauck, Fabian, Bufler, Philip, Conca, Raffaele, Wall, Sarah M., Schumacher, Eva M., Misceo, Doriana, Frengen, Eirik, Bentsen, Beint S., Uhlig, Holm H., Hopfner, Karl-Peter, Muise, Aleixo M., Snapper, Scott B., Strømme, Petter, Klein, Christoph

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Biallelic variants in the RNA exosome gene EXOSC5 are associated with developmental delays, short stature, cerebellar hypoplasia and motor weakness Dahkki Slavotinek, Anne, Misceo, Doriana, Htun, Stephanie, Mathisen, Linda, Frengen, Eirik, Foreman, Michelle, Hurtig, Jennifer E, Enyenihi, Liz, Sterrett, Maria C, Leung, Sara W, Schneidman-Duhovny, Dina, Estrada-Veras, Juvianee, Duncan, Jacque L, Haaxma, Charlotte A, Kamsteeg, Erik-Jan, Xia, Vivian, Beleford, Daniah, Si, Yue, Douglas, Ganka, Treidene, Hans Einar, van Hoof, Ambro, Fasken, Milo B, Corbett, Anita H

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Loss of CBY1 results in a ciliopathy characterized by features of Joubert syndrome Dahkki Epting, Daniel, Senaratne, Lokuliyange D. S., Ott, Elisabeth, Holmgren, Asbjørn, Sumathipala, Dulika, Larsen, Selma M., Wallmeier, Julia, Bracht, Diana, Frikstad, Kari‐Anne M., Crowley, Suzanne, Sikiric, Alma, Barøy, Tuva, Käsmann‐Kellner, Barbara, Decker, Eva, Decker, Christian, Bachmann, Nadine, Patzke, Sebastian, Phelps, Ian G., Katsanis, Nicholas, Giles, Rachel, Schmidts, Miriam, Zucknick, Manuela, Lienkamp, Soeren S., Omran, Heymut, Davis, Erica E., Doherty, Dan, Strømme, Petter, Frengen, Eirik, Bergmann, Carsten, Misceo, Doriana

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Mutations in the Kinesin-2 Motor KIF3B Cause an Autosomal-Dominant Ciliopathy Dahkki Cogné, Benjamin, Latypova, Xenia, Senaratne, Lokuliyanage Dona Samudita, Martin, Ludovic, Koboldt, Daniel C., Kellaris, Georgios, Fievet, Lorraine, Le Meur, Guylène, Caldari, Dominique, Debray, Dominique, Nizon, Mathilde, Frengen, Eirik, Bowne, Sara J., Cadena, Elizabeth L., Daiger, Stephen P., Bujakowska, Kinga M., Pierce, Eric A., Gorin, Michael, Katsanis, Nicholas, Bézieau, Stéphane, Petersen-Jones, Simon M., Occelli, Laurence M., Lyons, Leslie A., Legeai-Mallet, Laurence, Sullivan, Lori S., Davis, Erica E., Isidor, Bertrand

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YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction Dahkki Gabriele, Michele, Vulto-van Silfhout, Anneke T., Germain, Pierre-Luc, Vitriolo, Alessandro, Kumar, Raman, Douglas, Evelyn, Haan, Eric, Kosaki, Kenjiro, Takenouchi, Toshiki, Rauch, Anita, Steindl, Katharina, Frengen, Eirik, Misceo, Doriana, Pedurupillay, Christeen Ramane J., Stromme, Petter, Rosenfeld, Jill A., Shao, Yunru, Craigen, William J., Schaaf, Christian P., Rodriguez-Buritica, David, Farach, Laura, Friedman, Jennifer, Thulin, Perla, McLean, Scott D., Nugent, Kimberly M., Morton, Jenny, Nicholl, Jillian, Andrieux, Joris, Stray-Pedersen, Asbjørg, Chambon, Pascal, Patrier, Sophie, Lynch, Sally A., Kjaergaard, Susanne, Tørring, Pernille M., Brasch-Andersen, Charlotte, Ronan, Anne, van Haeringen, Arie, Anderson, Peter J., Powis, Zöe, Brunner, Han G., Pfundt, Rolph, Schuurs-Hoeijmakers, Janneke H.M., van Bon, Bregje W.M., Lelieveld, Stefan, Gilissen, Christian, Nillesen, Willy M., Vissers, Lisenka E.L.M., Gecz, Jozef, Koolen, David A., Testa, Giuseppe, de Vries, Bert B.A.

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