Mutations in ABHD12 Cause the Neurodegenerative Disease PHARC: An Inborn Error of Endocannabinoid Metabolism by Fiskerstrand, Torunn, H'mida-Ben Brahim, Dorra, Johansson, Stefan, M'zahem, Abderrahim, Haukanes, Bjørn Ivar, Drouot, Nathalie, Zimmermann, Julian, Cole, Andrew J., Vedeler, Christian, Bredrup, Cecilie, Assoum, Mirna, Tazir, Meriem, Klockgether, Thomas, Hamri, Abdelmadjid, Steen, Vidar M., Boman, Helge, Bindoff, Laurence A., Koenig, Michel, Knappskog, Per M.

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The intronic BRCA1 c.5407-25T>A variant causing partly skipping of exon 23-a likely pathogenic variant with reduced penetrance? by Høberg-Vetti, Hildegunn, Ognedal, Elisabet, Buisson, Adrien, Vamre, Tone Bøe Aaman, Ariansen, Sarah, Hoover, Jacqueline M, Eide, Geir Egil, Houge, Gunnar, Fiskerstrand, Torunn, Haukanes, Bjørn Ivar, Bjorvatn, Cathrine, Knappskog, Per Morten

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Prolonged intestinal transit and diarrhea in patients with an activating GUCY2C mutation by von Volkmann, Hilde L, Brønstad, Ingeborg, Gilja, Odd Helge, R Tronstad, Rune, Sangnes, Dag Andre, Nortvedt, Ragnar, Hausken, Trygve, Dimcevski, Georg, Fiskerstrand, Torunn, Nylund, Kim

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Comparison of pre-analytical conditions for quantification of serotonin in platelet-poor plasma by Von Volkmann, Hilde L., Brønstad, Ingeborg, Fiskerstrand, Torunn, Gudbrandsen, Oddrun Anita

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

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Dominant Mutations in the Autoimmune Regulator AIRE Are Associated with Common Organ-Specific Autoimmune Diseases by Oftedal, Bergithe E., Hellesen, Alexander, Erichsen, Martina M., Bratland, Eirik, Vardi, Ayelet, Perheentupa, Jaakko, Kemp, E. Helen, Fiskerstrand, Torunn, Viken, Marte K., Weetman, Anthony P., Fleishman, Sarel J., Banka, Siddharth, Newman, William G., Sewell, W.A.C., Sozaeva, Leila S., Zayats, Tetyana, Haugarvoll, Kristoffer, Orlova, Elizaveta M., Haavik, Jan, Johansson, Stefan, Knappskog, Per M., Løvås, Kristian, Wolff, Anette S.B., Abramson, Jakub, Husebye, Eystein S.

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Ciliopathies with Skeletal Anomalies and Renal Insufficiency due to Mutations in the IFT-A Gene WDR19 by Bredrup, Cecilie, Saunier, Sophie, Oud, Machteld M., Fiskerstrand, Torunn, Hoischen, Alexander, Brackman, Damien, Leh, Sabine M., Midtbø, Marit, Filhol, Emilie, Bole-Feysot, Christine, Nitschké, Patrick, Gilissen, Christian, Haugen, Olav H., Sanders, Jan-Stephan F., Stolte-Dijkstra, Irene, Mans, Dorus A., Steenbergen, Eric J., Hamel, Ben C.J., Matignon, Marie, Pfundt, Rolph, Jeanpierre, Cécile, Boman, Helge, Rødahl, Eyvind, Veltman, Joris A., Knappskog, Per M., Knoers, Nine V.A.M., Roepman, Ronald, Arts, Heleen H.

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Plasma levels of guanylins are reduced in patients with Crohn's disease by von Volkmann, Hilde L., Brønstad, Ingeborg, Tronstad, Rune R., Dizdar, Vernesa, Nylund, Kim, Hanevik, Kurt, Hausken, Trygve, Gilja, Odd Helge, Fiskerstrand, Torunn

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RareVariantVis: new tool for visualization of causative variants in rare monogenic disorders using whole genome sequencing data by Stokowy, Tomasz, Garbulowski, Mateusz, Fiskerstrand, Torunn, Holdhus, Rita, Labun, Kornel, Sztromwasser, Pawel, Gilissen, Christian, Hoischen, Alexander, Houge, Gunnar, Petersen, Kjell, Jonassen, Inge, Steen, Vidar M

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Syndromic X-linked intellectual disability segregating with a missense variant in RLIM by Tønne, Elin, Holdhus, Rita, Stansberg, Christine, Stray-Pedersen, Asbjørg, Petersen, Kjell, Brunner, Han G, Gilissen, Christian, Hoischen, Alexander, Prescott, Trine, Steen, Vidar M, Fiskerstrand, Torunn

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Duplicated Enhancer Region Increases Expression of CTSB and Segregates with Keratolytic Winter Erythema in South African and Norwegian Families by Ngcungcu, Thandiswa, Oti, Martin, Sitek, Jan C., Haukanes, Bjørn I., Linghu, Bolan, Bruccoleri, Robert, Stokowy, Tomasz, Oakeley, Edward J., Yang, Fan, Zhu, Jiang, Sultan, Marc, Schalkwijk, Joost, van Vlijmen-Willems, Ivonne M.J.J., von der Lippe, Charlotte, Brunner, Han G., Ersland, Kari M., Grayson, Wayne, Buechmann-Moller, Stine, Sundnes, Olav, Nirmala, Nanguneri, Morgan, Thomas M., van Bokhoven, Hans, Steen, Vidar M., Hull, Peter R., Szustakowski, Joseph, Staedtler, Frank, Zhou, Huiqing, Fiskerstrand, Torunn, Ramsay, Michele

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Elevated cerebrospinal fluid protein in POLG‐related epilepsy: Diagnostic and prognostic implications by Hikmat, Omar, Naess, Karin, Engvall, Martin, Klingenberg, Claus, Rasmussen, Magnhild, Tallaksen, Chantal M. E., Brodtkorb, Eylert, Fiskerstrand, Torunn, Isohanni, Pirjo, Uusimaa, Johanna, Darin, Niklas, Rahman, Shamima, Bindoff, Laurence A.

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A recessive ataxia diagnosis algorithm for the next generation sequencing era by Renaud, Mathilde, Tranchant, Christine, Martin, Juan Vicente Torres, Mochel, Fanny, Synofzik, Matthis, van de Warrenburg, Bart, Pandolfo, Massimo, Koenig, Michel, Kolb, Stefan A., Anheim, Mathieu, Alonso, Isabel, Azzedine, Hamid, Barbot, Clara, Bereau, Matthieu, Berkovic, Sam, Bernard, Geneviéve, Bindoff, Laurence A., Bompaire, Flavie, Bonneau, Dominique, Bonneau, Patrizia, Boycott, Kym M., Bras, Jose, Brais, Bernard, Brigatti, Karlla W., Cameron, Jillian, Chamova, Teodora, Choquet, Karine, Delague, Valérie, Denizeau, Philippe, Dotti, Maria Teresa, El‐Euch, Ghada, Elmalik, Salah A., Federico, Antonio, Fiskerstrand, Torunn, Gagnon, Cynthia, Guerreiro, Rita, Guissart, Claire, Hassin‐Baer, Sharon, Heimdal, Ketil Riddervold, Héron, Bénédicte, Isohanni, Pirjo, Kalaydijeva, Luba, Kawarai, Toshitaka, Koht, Jeanette Aimee, Lai, Szu‐Chia, Piana, Roberta La, Lecocq, Claire, Linnankivi, Tarja, Lönnqvist, Tuula, Lu, Chin‐Song, Maas, Roderick, Mahlaoui, Nizar, Mallaret, Martial, Marelli, Cecilia, Mariotti, Caterina, Mathieu, Jean, Méneret, Aurélie, Mignarri, Andrea, Monin, Marie Lorraine, Montaut, Solveig, Nanetti, Lorenzo, Nadjar, Yann, Poujois, Aurélia, Salih, Mustafa A., Sousa, Sergio, Stanier, Philip, Stoppa‐Lyonnet, Dominique, Strauss, Kevin, Tallaksen, Chantal, Tarnopolsky, Mark, Tinant, Nadége, Tournev, Ivailo, Topaloglu, Haluk, Varhaug, Kristin Nielsen, Woimant, France, Wolf, Nicole I., Yahalom, Gilad, Yoon, Grace, Young, Millie

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An activating gucy2c mutation causes impaired contractility and fluid stagnation in the small bowel by von Volkmann, Hilde Løland, Nylund, Kim, Tronstad, Rune Rose, Hovdenak, Nils, Hausken, Trygve, Fiskerstrand, Torunn, Gilja, Odd Helge

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The presence of anaemia negatively influences survival in patients with POLG disease by Hikmat, Omar, Charalampos, Tzoulis, Klingenberg, Claus, Rasmussen, Magnhild, Tallaksen, Chantal M. E., Brodtkorb, Eylert, Fiskerstrand, Torunn, McFarland, Robert, Rahman, Shamima, Bindoff, Laurence A.

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Folate Depletion Induced by Methotrexate Affects Methionine Synthase Activity and Its Susceptibility to Inactivation by Nitrous Oxide by Fiskerstrand, T, Ueland, P M, Refsum, H

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A novel ADAMTSL4 mutation in autosomal recessive ectopia lentis et pupillae by Christensen, Anne E, Fiskerstrand, Torunn, Knappskog, Per M, Boman, Helge, Rødahl, Eyvind

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Guanylate Cyclase C Activation Shapes the Intestinal Microbiota in Patients with Familial Diarrhea and Increased Susceptibility for Crohn's Disease by Tronstad, Rune R, Kummen, Martin, Holm, Kristian, von Volkmann, Hilde L, Anmarkrud, Jarl A, Høivik, Marte L, Moum, Bjørn, Gilja, Odd H, Hausken, Trygve, Baines, John, Karlsen, Tom H, Fiskerstrand, Torunn, Hov, Johannes R

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STUB1 mutations in autosomal recessive ataxias - evidence for mutation-specific clinical heterogeneity by Heimdal, Ketil, Sanchez-Guixé, Monica, Aukrust, Ingvild, Bollerslev, Jens, Bruland, Ove, Jablonski, Greg Eigner, Erichsen, Anne Kjersti, Gude, Einar, Koht, Jeanette A, Erdal, Sigrid, Fiskerstrand, Torunn, Haukanes, Bjørn Ivar, Boman, Helge, Bjørkhaug, Lise, Tallaksen, Chantal M E, Knappskog, Per M, Johansson, Stefan

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Genetic and transcriptional analysis of inflammatory bowel disease-associated pathways in patients with GUCY2C-linked familial diarrhea by Tronstad, Rune R., Polushina, Tatiana, Brattbakk, Hans-Richard, Stansberg, Christine, von Volkmann, Hilde Løland, Hanevik, Kurt, Ellinghaus, Eva, Jørgensen, Silje Fjellgård, Ersland, Kari Merete, Pham, Khanh D.-C., Gilja, Odd Helge, Hovdenak, Nils, Hausken, Trygve, Vatn, Morten H., Franke, Andre, Knappskog, Per Morten, Le Hellard, Stephanie, Karlsen, Tom Hemming, Fiskerstrand, Torunn

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