1. Clinical features and molecular genetics of patients with ABCA4‐retinal dystrophies. Issue 5 (30th November 2020) Authors: Holtan, Josephine Prener; Aukrust, Ingvild; Jansson, Ragnhild Wivestad; Berland, Siren; Bruland, Ove; Gjerde, Birgitt Løkhaug; Stokowy, Tomasz; Bojovic, Ognjen; Forsaa, Vegard; Austeng, Dordi; Rødahl, Eyvind; Bredrup, Cecilie; Knappskog, Per Morten; Bragadóttir, Ragnheiður Journal: Acta ophthalmologica Issue: Volume 99:Issue 5(2021) Page Start: e733 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. De novo variants in SUPT16H cause neurodevelopmental disorders associated with corpus callosum abnormalities. Issue 7 (10th January 2020) Authors: Bina, Roya; Matalon, Dena; Fregeau, Brieana; Tarsitano, Jacqueline Joani; Aukrust, Ingvild; Houge, Gunnar; Bend, Renee; Warren, Hannah; Stevenson, Roger E; Stuurman, Kyra Eva; Barkovich, A James; Sherr, Elliott H. Journal: Journal of medical genetics Issue: Volume 57:Issue 7(2020) Page Start: 461 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Dominant ARL3-related retinitis pigmentosa. (4th March 2019) Authors: Holtan, Josephine Prener; Teigen, Knut; Aukrust, Ingvild; Bragadóttir, Ragnheiður; Houge, Gunnar Journal: Ophthalmic genetics Issue: Volume 40:Number 2(2019) Page Start: 124 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Functional evaluation of 16 SCHAD missense variants: Only amino acid substitutions causing congenital hyperinsulinism of infancy lead to loss‐of‐function phenotypes in vitro. Issue 1 (28th September 2020) Authors: Velasco, Kelly; St‐Louis, Johanna L.; Hovland, Henrikke N.; Thompson, Nels; Ottesen, Åsta; Choi, Man Hung; Pedersen, Line; Njølstad, Pål R.; Arnesen, Thomas; Fjeld, Karianne; Aukrust, Ingvild; Myklebust, Line M.; Molven, Anders Journal: Journal of inherited metabolic disease Issue: Volume 44:Issue 1(2021) Page Start: 240 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients. (January 2018) Authors: Moortgat, Stéphanie; Berland, Siren; Aukrust, Ingvild; Maystadt, Isabelle; Baker, Laura; Benoit, Valerie; Caro-Llopis, Alfonso; Cooper, Nicola; Debray, François-Guillaume; Faivre, Laurence; Gardeitchik, Thatjana; Haukanes, Bjørn; Houge, Gunnar; Kivuva, Emma; Martinez, Francisco; Mehta, Sarju; Nas... Journal: European journal of human genetics Issue: Volume 26:Number 1(2018) Page Start: 64 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. In vitro characterization of six STUB1 variants in spinocerebellar ataxia 16 reveals altered structural properties for the encoded CHIP proteins. Issue 2 (28th April 2017) Authors: Pakdaman, Yasaman; Sanchez-Guixé, Monica; Kleppe, Rune; Erdal, Sigrid; Bustad, Helene J.; Bjørkhaug, Lise; Haugarvoll, Kristoffer; Tzoulis, Charalampos; Heimdal, Ketil; Knappskog, Per M.; Johansson, Stefan; Aukrust, Ingvild Journal: Bioscience reports Issue: Volume 37:Issue 2(2017) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Nuclear import of glucokinase in pancreatic beta-cells is mediated by a nuclear localization signal and modulated by SUMOylation. (15th October 2017) Authors: Johansson, Bente Berg; Fjeld, Karianne; Solheim, Marie Holm; Shirakawa, Jun; Zhang, Enming; Keindl, Magdalena; Hu, Jiang; Lindqvist, Andreas; Døskeland, Anne; Mellgren, Gunnar; Flatmark, Torgeir; Njølstad, Pål Rasmus; Kulkarni, Rohit N.; Wierup, Nils; Aukrust, Ingvild; Bjørkhaug, Lise Journal: Molecular and cellular endocrinology Issue: Volume 454(2017) Page Start: 146 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Pellino‐2 in nonimmune cells: novel interaction partners and intracellular localization. Issue 23 (12th November 2021) Authors: Cristea, Ileana; Bruland, Ove; Aukrust, Ingvild; Rødahl, Eyvind; Bredrup, Cecilie Journal: FEBS letters Issue: Volume 595:Issue 23(2021) Page Start: 2909 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Post‐translational modifications of Annexin A2 are linked to its association with perinuclear nonpolysomal mRNP complexes. Issue 2 (17th January 2017) Authors: Aukrust, Ingvild; Rosenberg, Linn Andersen; Ankerud, Mia Madeleine; Bertelsen, Vibeke; Hollås, Hanne; Saraste, Jaakko; Grindheim, Ann Kari; Vedeler, Anni Journal: FEBS open bio Issue: Volume 7:Issue 2(2017) Page Start: 160 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. The intronic ABCA4 c.5461‐10T>C variant, frequently seen in patients with Stargardt disease, causes splice defects and reduced ABCA4 protein level. Issue 3 (24th October 2016) Authors: Aukrust, Ingvild; Jansson, Ragnhild W.; Bredrup, Cecilie; Rusaas, Hilde E.; Berland, Siren; Jørgensen, Agnete; Haug, Marte G.; Rødahl, Eyvind; Houge, Gunnar; Knappskog, Per M. Journal: Acta ophthalmologica Issue: Volume 95:Issue 3(2017) Page Start: 240 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗