Publications from OUS - Department of Newborn Screening

109 publications found

Publications 2025

1. Antunes FTT, Gandini MA, Garcia-Caballero A, Huang S, Ali MY, Gambeta E, Souza IA, Harding EK, Ferron L, Stray-Pedersen A, Gadotti VM, Zamponi GW (2025)
   A pathological missense mutation in the deubiquitinase USP5 leads to insensitivity to pain
   J Exp Med, 222 (8)
   DOI 10.1084/jem.20241877, PubMed 40377597
2. Asbreuk MABC, Schoenmakers DH, Adang LA, Beerepoot S, Bergner C, Bley A, Boelens JJ, Bugiani M, Calbi V, García-Cazorla À, Eklund EA, Fumagalli F, Grønborg SW, Groeschel S, Van Hasselt PM, Hollak CEM, Jones SA, de Koning TJ, van Kuilenburg ABP, Laugwitz L, Lindemans C, Mochel F, Øberg A, Ram D, Schöls L et al. (2025)
   Metachromatic Leukodystrophy: New Therapy Advancements and Emerging Research Directions
   Neurology, 105 (2), e213817
   DOI 10.1212/WNL.0000000000213817, PubMed 40577679
3. Bhattarai D, Banday AZ, Patra PK, Baral R, Chaudhry C, Girisha KM, Walter JE, Narasimhan G, Neven B, Stray-Pedersen A, Sullivan KE (2025)
   The c.64 + 2 T > A Founder Variant Hits Home: Report on 14 Patients Expands the Phenotypic Landscape of Inherited ARPC1B Deficiency - a Comparative Analysis
   Clin Rev Allergy Immunol, 68 (1), 64
   DOI 10.1007/s12016-025-09070-1, PubMed 40668456
4. Grünert SC, Baumgartner MR, Bouchereau J, Burlina A, Clayton PT, de Las Heras J, Dionisi-Vici C, Gemperle-Britschgi C, Haase C, Korman SH, Krämer J, Kühlwein E, Maier EM, Maiorana A, Schiff M, Schmid CU, Tangeraas T, Yamamoto R, Zschocke J, Sass JO (2025)
   Mitochondrial 3-hydroxy-3-methylglutaryl-coenzyme A synthase deficiency: From metabolism to clinical implications
   Genet Med, 27 (9), 101484
   DOI 10.1016/j.gim.2025.101484, PubMed 40515583
5. Koenig MK, Leuzzi V, Gouider R, Yiu EM, Pietrucha B, Stray-Pedersen A, Perlman SL, Wu S, Burgers T, Borgohain R, Kandadai RM, Meyts I, Bucciol G, Udwadia-Hegde A, Yadav R, Roberts D, Dane A, Roden M, Thye D, Horn B, Lederman HM, Whitehouse WP (2025)
   Long-term safety of dexamethasone sodium phosphate encapsulated in autologous erythrocytes in pediatric patients with ataxia telangiectasia
   Front Neurol, 15, 1526914
   DOI 10.3389/fneur.2024.1526914, PubMed 39917433
6. Lee A, Bliksrud YT, Onali M, Neugebauer J, Eyskens F, Haas D, Mossler K, Enekwe A, Kiec-Wilk B, Diep LM, Bellettato CM, Zernikow B, Scarpa M, Rahman S, Tangeraas T, MetabERN collaboration group on palliative care (2025)
   Palliative Care for Children and Adults With Inherited Metabolic Disease in Europe: An Underutilised Service for Supportive Treatment and Care
   J Inherit Metab Dis, 48 (6), e70095
   DOI 10.1002/jimd.70095, PubMed 41137497
7. Martinsen KHB, Øverland T, Stray-Pedersen A, Abrahamsen TG, Fevang B, Landsverk HCE (2025)
   A Norwegian cohort with STAT1-related disease - further expanding the clinical phenotype
   Front Immunol, 16, 1620291
   DOI 10.3389/fimmu.2025.1620291, PubMed 40881691
8. Samarakoon PS, Fournous G, Hansen LT, Wijesiri A, Zhao S, Alex A R, Nandi TN, Madduri R, Rowe AD, Thomassen G, Hovig E, Razick S (2025)
   Benchmarking accelerated next-generation sequencing analysis pipelines
   Bioinform Adv, 5 (1), vbaf085
   DOI 10.1093/bioadv/vbaf085, PubMed 40395501
9. Schoenmakers DH, Asbreuk MABC, Martin T, Datema M, Beerepoot S, Inbar-Feigenberg M, Groeschel S, Kehrer C, Øberg A, Sevin C, Fumagalli F, Bergner CG, Vieira P, Bley A, Uusimaa J, Horn MA, Brožová K, Stögmann E, Pichler H, Lüftinger R, Eklund EA, Mochel F, Adang LA, Laugwitz L, Boelens JJ et al. (2025)
   Key lessons from the first international treatment eligibility committee: the case of metachromatic leukodystrophy
   Eur J Paediatr Neurol, 57, 72-81
   DOI 10.1016/j.ejpn.2025.05.012, PubMed 40482356
10. Trampuž D, Schielen PCJI, Zetterström RH, Scarpa M, Feillet F, Kožich V, Tangeraas T, Drole Torkar A, Mlinarič M, Perko D, Remec ŽI, Lampret BR, Battelino T, Isns Study Group On Pku, van Spronsen FJ, Bonham JR, Grošelj U (2025)
    International Survey on Phenylketonuria Newborn Screening
    Int J Neonatal Screen, 11 (1)
    DOI 10.3390/ijns11010018, PubMed 40136633

Publications 2024

1. Arntsen V, Jamali A, Sikiric A, Kristensen E, Tangeraas T, Kupliauskiene G, Stefansdottir S, Bindoff LA, Sand T, Brodtkorb E (2024)
   Utility and limitations of EEG in the diagnosis and management of ALDH7A1-related pyridoxine-dependent epilepsy. A retrospective observational study
   Front Neurol, 15, 1355861
   DOI 10.3389/fneur.2024.1355861, PubMed 38419708
2. Baliakas P, Tesi B, Cammenga J, Stray-Pedersen A, Jahnukainen K, Andersen MK, Ågerstam H, Creignou M, Dybedal I, Raaschou-Jensen K, Grønbæk K, Kilpivaara O, Lindberg EH, Wartiovaara-Kautto U (2024)
   How to manage patients with germline DDX41 variants: Recommendations from the Nordic working group on germline predisposition for myeloid neoplasms
   Hemasphere, 8 (8), e145
   DOI 10.1002/hem3.145, PubMed 39139355
3. Blom M, Soomann M, Soler-Palacín P, Šedivá A, Stray-Pedersen A, Zetterström R, Speckmann C, Gennery AR, van der Burg M (2024)
   Newborn screening for SCID and severe T lymphocytopenia in Europe
   J Allergy Clin Immunol, 155 (2), 377-386
   DOI 10.1016/j.jaci.2024.10.018, PubMed 39510364
4. Chen R, Lukianova E, Schim van der Loeff I, Spegarova JS, Willet JDP, James KD, Ryder EJ, Griffin H, IJspeert H, Gajbhiye A, Lamoliatte F, Marin-Rubio JL, Woodbine L, Lemos H, Swan DJ, Pintar V, Sayes K, Ruiz-Morales ER, Eastham S, Dixon D, Prete M, Prigmore E, Jeggo P, Boyes J, Mellor A et al. (2024)
   NUDCD3 deficiency disrupts V(D)J recombination to cause SCID and Omenn syndrome
   Sci Immunol, 9 (95), eade5705
   DOI 10.1126/sciimmunol.ade5705, PubMed 38787962
5. Hikmat O, Naess K, Engvall M, Klingenberg C, Rasmussen M, Brodtkorb E, Ostergaard E, de Coo I, Pias-Peleteiro L, Isohanni P, Uusimaa J, Majamaa K, Kärppä M, Ortigoza-Escobar JD, Tangeraas T, Berland S, Harrison E, Biggs H, Horvath R, Darin N, Rahman S, Bindoff LA (2024)
   Status epilepticus in POLG disease: a large multinational study
   J Neurol, 271 (8), 5156-5164
   DOI 10.1007/s00415-024-12463-5, PubMed 38822839
6. Laugwitz L, Schoenmakers DH, Adang LA, Beck-Woedl S, Bergner C, Bernard G, Bley A, Boyer A, Calbi V, Dekker H, Eichler F, Eklund E, Fumagalli F, Gavazzi F, Grønborg SW, van Hasselt P, Langeveld M, Lindemans C, Mochel F, Oberg A, Ram D, Saunier-Vivar E, Schöls L, Scholz M, Sevin C et al. (2024)
   Newborn screening in metachromatic leukodystrophy - European consensus-based recommendations on clinical management
   Eur J Paediatr Neurol, 49, 141-154
   DOI 10.1016/j.ejpn.2024.03.003, PubMed 38554683
7. Lund AM, Berland S, Tangeraas T, Christensen M, Confer N, Squires L, Brannsether B (2024)
   Late-Onset Molybdenum Cofactor Deficiency Type A: A Treatable Cause of Developmental Delay
   Pediatrics, 153 (6)
   DOI 10.1542/peds.2023-062548, PubMed 38808412
8. Ziegler A, Sæves I, Almaas R (2024)
   Differences in bile acid profiles between cholestatic diseases - Development of a high throughput assay for dried bloodspots
   Clin Chim Acta, 562, 119864
   DOI 10.1016/j.cca.2024.119864, PubMed 38992821
9. Ziegler A, Sæves I, Almaas R (2024)
   Corrigendum to "Differences in bile acid profiles between cholestatic diseases - Development of a high throughput assay for dried bloodspots" [Clin. Chim. Acta 562 (2024) 119864]
   Clin Chim Acta, 562, 119882
   DOI 10.1016/j.cca.2024.119882, PubMed 39054215
10. Zielen S, Crawford T, Benatti L, Magnani M, Kieslich M, Ryan M, Meyts I, Gulati S, Borgohain R, Yadav R, Pal P, Hegde A, Kumar S, Venkateswar A, Udani V, Vinayan KP, Nissenkorn A, Fazzi E, Leuzzi V, Stray-Pedersen A, Pietrucha B, Pascual SI, Gouider R, Koenig MK, Wu S et al. (2024)
    Safety and efficacy of intra-erythrocyte dexamethasone sodium phosphate in children with ataxia telangiectasia (ATTeST): a multicentre, randomised, double-blind, placebo-controlled phase 3 trial
    Lancet Neurol, 23 (9), 871-882
    DOI 10.1016/S1474-4422(24)00220-5, PubMed 39152028

Publications 2023

1. Almaas R, Atneosen-Åsegg M, Ytre-Arne ME, Melheim M, Sorte HS, Cízková D, Reims HM, Bezrouk A, Harrison SP, Strand J, Hermansen JU, Andersen SS, Eiklid KL, Mokrý J, Sullivan GJ, Stray-Pedersen A (2023)
   Aagenaes syndrome/lymphedema cholestasis syndrome 1 is caused by a founder variant in the 5'-untranslated region of UNC45A
   J Hepatol, 79 (4), 945-954
   DOI 10.1016/j.jhep.2023.05.037, PubMed 37328071
2. Bakke KA, Helverschou SB, Skrivarhaug T, Houge SD, Stray-Pedersen A (2023)
   Personalised medicine for developmental disorders
   Tidsskr Nor Laegeforen, 143 (13)
   DOI 10.4045/tidsskr.23.0351, PubMed 37753748
3. Himmelreich N, Bertoldi M, Alfadhel M, Alghamdi MA, Anikster Y, Bao X, Bashiri FA, Zeev BB, Bisello G, Ceylan AC, Chien YH, Choy YS, Elsea SH, Flint L, García-Cazorla À, Gijavanekar C, Gümüş EY, Hamad MH, Hişmi B, Honzik T, Hübschmann OK, Hwu WL, Ibáñez-Micó S, Jeltsch K, Juliá-Palacios N et al. (2023)
   Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes
   Mol Genet Metab, 139 (3), 107624
   DOI 10.1016/j.ymgme.2023.107624, PubMed 37348148
4. Himmelreich N, Bertoldi M, Alfadhel M, Alghamdi MA, Anikster Y, Bao X, Bashiri FA, Zeev BB, Bisello G, Ceylan AC, Chien YH, Choy YS, Elsea SH, Flint L, García-Cazorla À, Gijavanekar C, Gümüş EY, Hamad MH, Hişmi B, Honzik T, Kuseyri Hübschmann O, Hwu WL, Ibáñez-Micó S, Jeltsch K, Juliá-Palacios N et al. (2023)
   Corrigendum to: Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes
   Mol Genet Metab, 139 (4), 107647
   DOI 10.1016/j.ymgme.2023.107647, PubMed 37453860
5. Hogner S, Lundman E, Strand J, Ytre-Arne ME, Tangeraas T, Stray-Pedersen A (2023)
   Newborn Genetic Screening-Still a Role for Sanger Sequencing in the Era of NGS
   Int J Neonatal Screen, 9 (4)
   DOI 10.3390/ijns9040067, PubMed 38132826
6. Jamali A, Kristensen E, Tangeraas T, Arntsen V, Sikiric A, Kupliauskiene G, Myren-Svelstad S, Berland S, Sejersted Y, Gerstner T, Hassel B, Bindoff LA, Brodtkorb E (2023)
   The spectrum of pyridoxine dependent epilepsy across the age span: A nationwide retrospective observational study
   Epilepsy Res, 190, 107099
   DOI 10.1016/j.eplepsyres.2023.107099, PubMed 36731270
7. Jamali A, Kristensen E, Tangeraas T, Arntsen V, Sikiric A, Kupliauskiene G, Myren-Svelstad S, Berland S, Sejersted Y, Gerstner T, Hassel B, Bindoff LA, Brodtkorb E (2023)
   Corrigendum to "The spectrum of pyridoxine dependent epilepsy across the age span: A nationwide retrospective observational study" [Epilepsy Res. 190 (2023) 107099]
   Epilepsy Res, 198, 107113
   DOI 10.1016/j.eplepsyres.2023.107113, PubMed 36906427
8. Presterud R, Deng WH, Wennerström AB, Burgers T, Gajera B, Mattsson K, Solberg A, Fang EF, Nieminen AI, Stray-Pedersen A, Nilsen H (2023)
   Long-Term Nicotinamide Riboside Use Improves Coordination and Eye Movements in Ataxia Telangiectasia
   Mov Disord, 39 (2), 360-369
   DOI 10.1002/mds.29645, PubMed 37899683
9. Tangeraas T, Constante JR, Backe PH, Oyarzábal A, Neugebauer J, Weinhold N, Boemer F, Debray FG, Ozturk-Hism B, Evren G, Tuba EF, Ummuhan O, Footitt E, Davison J, Martinez C, Bueno C, Machado I, Rodríguez-Pombo P, Al-Sannaa N, De Los Santos M, López JM, Ozturkmen-Akay H, Karaca M, Tekin M, Pajares S et al. (2023)
   BCKDK deficiency: a treatable neurodevelopmental disease amenable to newborn screening
   Brain, 146 (7), 3003-3013
   DOI 10.1093/brain/awad010, PubMed 36729635
10. Tangeraas T, Kristensen E, Mørkrid L, Elind E, Bliksrud YT, Eide L (2023)
    Fasting and non-fasting plasma levels of monomethyl branched chain fatty acids: Implications for maple syrup urine disease
    JIMD Rep, 64 (5), 360-366
    DOI 10.1002/jmd2.12380, PubMed 37701324
11. Tangeraas T, Ljungblad UW, Lutvica E, Kristensen E, Rowe AD, Bjørke-Monsen AL, Rootwelt-Revheim T, Sæves I, Pettersen RD (2023)
    Vitamin B12 Deficiency (Un-)Detected Using Newborn Screening in Norway
    Int J Neonatal Screen, 9 (1)
    DOI 10.3390/ijns9010003, PubMed 36648770
12. Tsykunova G, Kristensen E, Stray-Pedersen A, Bruserud Ø, Sørensen IW, Bruserud Ø, Tvedt THA (2023)
    Adult presentation of ornithine transcarbamylase deficiency: a possible cause of hyperammonemia after high-dose chemotherapy and stem cell transplantation
    Hematology, 28 (1), 2265187
    DOI 10.1080/16078454.2023.2265187, PubMed 38078487

Publications 2022

1. Jensen SM, Müller KI, Mellgren SI, Bindoff LA, Rasmussen M, Ørstavik K, Jonsrud C, Tveten K, Nilssen Ø, Van Ghelue M, Arntzen KA (2022)
   Epidemiology and natural history in 101 subjects with FKRP-related limb-girdle muscular dystrophy R9. The Norwegian LGMDR9 cohort study (2020)
   Neuromuscul Disord, 33 (2), 119-132
   DOI 10.1016/j.nmd.2022.11.005, PubMed 36522254
2. Ljungblad UW, Astrup H, Mørkrid L, Hager HB, Lindberg M, Eklund EA, Bjørke-Monsen AL, Rootwelt T, Tangeraas T (2022)
   Breastfed Infants With Spells, Tremor, or Irritability: Rule Out Vitamin B12 Deficiency
   Pediatr Neurol, 131, 4-12
   DOI 10.1016/j.pediatrneurol.2022.03.003, PubMed 35439713
3. Ljungblad UW, Lindberg M, Eklund EA, Saeves I, Bjørke-Monsen AL, Tangeraas T (2022)
   Nitrous oxide in labour predicted newborn screening total homocysteine and is a potential risk factor for infant vitamin B12 deficiency
   Acta Paediatr, 111 (12), 2315-2321
   DOI 10.1111/apa.16530, PubMed 36029294
4. Ljungblad UW, Lindberg M, Eklund EA, Sæves I, Sagredo C, Bjørke-Monsen AL, Tangeraas T (2022)
   A Retrospective Evaluation of the Predictive Value of Newborn Screening for Vitamin B12 Deficiency in Symptomatic Infants Below 1 Year of Age
   Int J Neonatal Screen, 8 (4)
   DOI 10.3390/ijns8040066, PubMed 36547383
5. Ljungblad UW, Paulsen H, Tangeraas T, Evensen KAI (2022)
   Reference Material for Hammersmith Infant Neurologic Examination Scores Based on Healthy, Term Infants Age 3-7 Months
   J Pediatr, 244, 79-85.e12
   DOI 10.1016/j.jpeds.2022.01.032, PubMed 35093317
6. Ljungblad UW, Paulsen H, Tangeraas T, Evensen KAI (2022)
   Reply
   J Pediatr, 246, 287-288
   DOI 10.1016/j.jpeds.2022.03.048, PubMed 35358585
7. Ljungblad UW, Tangeraas T, Paulsen H, Lindberg M (2022)
   Lower iron stores were associated with suboptimal gross motor scores in infants at 3-7 months
   Acta Paediatr, 111 (10), 1941-1949
   DOI 10.1111/apa.16469, PubMed 35766116
8. Midtvedt Ø, Stray-Pedersen A, Andersson H, Gunnarsson R, Tveten K, Ali MM, Tjønnfjord GE (2022)
   A man in his sixties with chondritis and bone marrow failure
   Tidsskr Nor Laegeforen, 142 (4)
   DOI 10.4045/tidsskr.21.0370, PubMed 35239266
9. Ørstavik K, Arntzen KA, Mathisen P, Backe PH, Tangeraas T, Rasmussen M, Kristensen E, Van Ghelue M, Jonsrud C, Bliksrud YT (2022)
   Novel mutations in the HADHB gene causing a mild phenotype of mitochondrial trifunctional protein (MTP) deficiency
   JIMD Rep, 63 (3), 193-198
   DOI 10.1002/jmd2.12276, PubMed 35433169

Publications 2021

1. Ahmadi A, Till K, Backe PH, Blicher P, Diekmann R, Schüttpelz M, Glette K, Tørresen J, Bjørås M, Rowe AD, Dalhus B (2021)
   Non-flipping DNA glycosylase AlkD scans DNA without formation of a stable interrogation complex
   Commun Biol, 4 (1), 876
   DOI 10.1038/s42003-021-02400-x, PubMed 34267321
2. Blom M, Zetterström RH, Stray-Pedersen A, Gilmour K, Gennery AR, Puck JM, van der Burg M (2021)
   Recommendations for uniform definitions used in newborn screening for severe combined immunodeficiency
   J Allergy Clin Immunol, 149 (4), 1428-1436
   DOI 10.1016/j.jaci.2021.08.026, PubMed 34537207
3. Forbes LR, Eckstein OS, Gulati N, Peckham-Gregory EC, Ozuah NW, Lubega J, El-Mallawany NK, Agrusa JE, Poli MC, Vogel TP, Chaimowitz NS, Rider NL, Mace EM, Orange JS, Caldwell JW, Aldave-Becerra JC, Jolles S, Saettini F, Chong HJ, Stray-Pedersen A, Heslop HE, Kamdar KY, Rouce RH, Muzny DM, Jhangiani SN et al. (2021)
   Genetic errors of immunity distinguish pediatric nonmalignant lymphoproliferative disorders
   J Allergy Clin Immunol, 149 (2), 758-766
   DOI 10.1016/j.jaci.2021.07.015, PubMed 34329649
4. Hildrestrand GA, Rolseth V, Kunath N, Suganthan R, Jensen V, Bugaj AM, Fernandez-Berrocal MS, Sikko SB, Vetlesen S, Kuśnierczyk A, Olsen AK, Gützkow KB, Rowe AD, Wang W, Moldestad O, Syrstad MD, Slupphaug G, Eide L, Klungland A, Sætrom P, Luna L, Ye J, Scheffler K, Bjørås M (2021)
   NEIL1 and NEIL2 DNA glycosylases modulate anxiety and learning in a cooperative manner in mice
   Commun Biol, 4 (1), 1354
   DOI 10.1038/s42003-021-02864-x, PubMed 34857879
5. Jørgensen SF, Buechner J, Myhre AE, Galteland E, Spetalen S, Kulseth MA, Sorte HS, Holla ØL, Lundman E, Alme C, Heier I, Flægstad T, Fløisand Y, Benneche A, Fevang B, Aukrust P, Stray-Pedersen A, Gedde-Dahl T, Nordøy I (2021)
   A Nationwide Study of GATA2 Deficiency in Norway-the Majority of Patients Have Undergone Allo-HSCT
   J Clin Immunol, 42 (2), 404-420
   DOI 10.1007/s10875-021-01189-y, PubMed 34893945
6. Kara B, Seher N, Ucaryilmaz H, Yavas G, Paksoy Y, Artac H, Stray-Pedersen A, Koksal Y (2021)
   Delayed Radiation Myelopathy in a Child With Hodgkin Lymphoma and ARTEMIS Mutation
   J Pediatr Hematol Oncol, 43 (3), e404-e407
   DOI 10.1097/MPH.0000000000001815, PubMed 32341262
7. Ljungblad UW, Paulsen H, Mørkrid L, Pettersen RD, Hager HB, Lindberg M, Astrup H, Eklund EA, Bjørke-Monsen AL, Rootwelt T, Tangeraas T (2021)
   The prevalence and clinical relevance of hyperhomocysteinemia suggesting vitamin B12 deficiency in presumed healthy infants
   Eur J Paediatr Neurol, 35, 137-146
   DOI 10.1016/j.ejpn.2021.10.008, PubMed 34717141
8. Rowe AD, Stoway SD, Åhlman H, Arora V, Caggana M, Fornari A, Hagar A, Hall PL, Marquardt GC, Miller BJ, Nixon C, Norgan AP, Orsini JJ, Pettersen RD, Piazza AL, Schubauer NR, Smith AC, Tang H, Tavakoli NP, Wei S, Zetterström RH, Currier RJ, Mørkrid L, Rinaldo P (2021)
   A Novel Approach to Improve Newborn Screening for Congenital Hypothyroidism by Integrating Covariate-Adjusted Results of Different Tests into CLIR Customized Interpretive Tools
   Int J Neonatal Screen, 7 (2)
   DOI 10.3390/ijns7020023, PubMed 33922835
9. Stepien KM, Kieć-Wilk B, Lampe C, Tangeraas T, Cefalo G, Belmatoug N, Francisco R, Del Toro M, Wagner L, Lauridsen AG, Sestini S, Weinhold N, Hahn A, Montanari C, Rovelli V, Bellettato CM, Paneghetti L, van Lingen C, Scarpa M (2021)
   Challenges in Transition From Childhood to Adulthood Care in Rare Metabolic Diseases: Results From the First Multi-Center European Survey
   Front Med (Lausanne), 8, 652358
   DOI 10.3389/fmed.2021.652358, PubMed 33738294
10. Wendel K, Pfeiffer HCV, Fugelseth DM, Nestaas E, Domellöf M, Skålhegg BS, Elgstøen KBP, Rootwelt H, Pettersen RD, Pripp AH, Stiris T, Moltu SJ, ImNuT Collaboration Group (2021)
    Effects of nutrition therapy on growth, inflammation and metabolism in immature infants: a study protocol of a double-blind randomized controlled trial (ImNuT)
    BMC Pediatr, 21 (1), 19
    DOI 10.1186/s12887-020-02425-x, PubMed 33407269

Publications 2020

1. Coughlin CR, Tseng LA, Abdenur JE, Ashmore C, Boemer F, Bok LA, Boyer M, Buhas D, Clayton PT, Das A, Dekker H, Evangeliou A, Feillet F, Footitt EJ, Gospe SM, Hartmann H, Kara M, Kristensen E, Lee J, Lilje R, Longo N, Lunsing RJ, Mills P, Papadopoulou MT, Pearl PL et al. (2020)
   Consensus guidelines for the diagnosis and management of pyridoxine-dependent epilepsy due to α-aminoadipic semialdehyde dehydrogenase deficiency
   J Inherit Metab Dis, 44 (1), 178-192
   DOI 10.1002/jimd.12332, PubMed 33200442
2. Franková V, Driscoll RO, Jansen ME, Loeber JG, Kožich V, Bonham J, Borde P, Brincat I, Cheillan D, Dekkers E, Fingerhut R, Kuš IB, Girginoudis P, Groselj U, Hougaard D, Knapková M, la Marca G, Malniece I, Nanu MI, Nennstiel U, Olkhovych N, Oltarzewski M, Pettersen RD, Racz G, Reinson K et al. (2020)
   Regulatory landscape of providing information on newborn screening to parents across Europe
   Eur J Hum Genet, 29 (1), 67-78
   DOI 10.1038/s41431-020-00716-6, PubMed 33040093
3. Gul KA, Strand J, Pettersen RD, Brun H, Abrahamsen TG (2020)
   T-cell Receptor Excision Circles in Newborns with Heart Defects
   Pediatr Cardiol, 41 (4), 809-815
   DOI 10.1007/s00246-020-02317-y, PubMed 32166410
4. Kuhny M, Forbes LR, Çakan E, Vega-Loza A, Kostiuk V, Dinesh RK, Glauzy S, Stray-Pedersen A, Pezzi AE, Hanson IC, Vargas-Hernandez A, Xu ML, Coban-Akdemir ZH, Jhangiani SN, Muzny DM, Gibbs RA, Lupski JR, Chinn IK, Schatz DG, Orange JS, Meffre E (2020)
   Disease-associated CTNNBL1 mutation impairs somatic hypermutation by decreasing nuclear AID
   J Clin Invest, 130 (8), 4411-4422
   DOI 10.1172/JCI131297, PubMed 32484799
5. Połeć A, Rowe AD, Blicher P, Suganthan R, Bjørås M, Bøe SO (2020)
   PML Regulates the Epidermal Differentiation Complex and Skin Morphogenesis during Mouse Embryogenesis
   Genes (Basel), 11 (10)
   DOI 10.3390/genes11101130, PubMed 32992884
6. Strand J, Gul KA, Erichsen HC, Lundman E, Berge MC, Trømborg AK, Sørgjerd LK, Ytre-Arne M, Hogner S, Halsne R, Gaup HJ, Osnes LT, Kro GAB, Sorte HS, Mørkrid L, Rowe AD, Tangeraas T, Jørgensen JV, Alme C, Bjørndalen TEH, Rønnestad AE, Lang AM, Rootwelt T, Buechner J, Øverland T et al. (2020)
   Second-Tier Next Generation Sequencing Integrated in Nationwide Newborn Screening Provides Rapid Molecular Diagnostics of Severe Combined Immunodeficiency
   Front Immunol, 11, 1417
   DOI 10.3389/fimmu.2020.01417, PubMed 32754152
7. Tangeraas T, Sæves I, Klingenberg C, Jørgensen J, Kristensen E, Gunnarsdottir G, Hansen EV, Strand J, Lundman E, Ferdinandusse S, Salvador CL, Woldseth B, Bliksrud YT, Sagredo C, Olsen ØE, Berge MC, Trømborg AK, Ziegler A, Zhang JH, Sørgjerd LK, Ytre-Arne M, Hogner S, Løvoll SM, Kløvstad Olavsen MR, Navarrete D et al. (2020)
   Performance of Expanded Newborn Screening in Norway Supported by Post-Analytical Bioinformatics Tools and Rapid Second-Tier DNA Analyses
   Int J Neonatal Screen, 6 (3), 51
   DOI 10.3390/ijns6030051, PubMed 33123633
8. Trier C, Fournous G, Strand JM, Stray-Pedersen A, Pettersen RD, Rowe AD (2020)
   Next-generation sequencing of newborn screening genes: the accuracy of short-read mapping
   NPJ Genom Med, 5, 36
   DOI 10.1038/s41525-020-00142-z, PubMed 32944285
9. Villanger GD, Ystrom E, Engel SM, Longnecker MP, Pettersen R, Rowe AD, Reichborn-Kjennerud T, Aase H (2020)
   Neonatal thyroid-stimulating hormone and association with attention-deficit/hyperactivity disorder
   Paediatr Perinat Epidemiol, 34 (5), 590-596
   DOI 10.1111/ppe.12643, PubMed 32072662
10. Wintjes LTM, Kava M, van den Brandt FA, van den Brand MAM, Lapina O, Bliksrud YT, Kulseth MA, Amundsen SS, Selberg TR, Ybema-Antoine M, Tutakhel OAZ, Greed L, Thorburn DR, Tangeraas T, Balasubramaniam S, Rodenburg RJT (2020)
    A novel variant in COX16 causes cytochrome c oxidase deficiency, severe fatal neonatal lactic acidosis, encephalopathy, cardiomyopathy, and liver dysfunction
    Hum Mutat, 42 (2), 135-141
    DOI 10.1002/humu.24137, PubMed 33169484

Publications 2019

1. Ahmadi A, Rosnes I, Blicher P, Diekmann R, Schüttpelz M, Glette K, Tørresen J, Bjørås M, Dalhus B, Rowe AD (2019)
   Publisher Correction: Breaking the speed limit with multimode fast scanning of DNA by Endonuclease V
   Nat Commun, 10 (1), 1991
   DOI 10.1038/s41467-019-10070-x, PubMed 31024006
2. Ahmadi A, Till K, Hafting Y, Schüttpelz M, Bjørås M, Glette K, Tørresen J, Rowe AD, Dalhus B (2019)
   Additive manufacturing of laminar flow cells for single-molecule experiments
   Sci Rep, 9 (1), 16784
   DOI 10.1038/s41598-019-53151-z, PubMed 31727950
3. Baliakas P, Tesi B, Wartiovaara-Kautto U, Stray-Pedersen A, Friis LS, Dybedal I, Hovland R, Jahnukainen K, Raaschou-Jensen K, Ljungman P, Rustad CF, Lautrup CK, Kilpivaara O, Kittang AO, Grønbæk K, Cammenga J, Hellström-Lindberg E, Andersen MK (2019)
   Nordic Guidelines for Germline Predisposition to Myeloid Neoplasms in Adults: Recommendations for Genetic Diagnosis, Clinical Management and Follow-up
   Hemasphere, 3 (6), e321
   DOI 10.1097/HS9.0000000000000321, PubMed 31976490
4. Cogné B, Ehresmann S, Beauregard-Lacroix E, Rousseau J, Besnard T, Garcia T, Petrovski S, Avni S, McWalter K, Blackburn PR, Sanders SJ, Uguen K, Harris J, Cohen JS, Blyth M, Lehman A, Berg J, Li MH, Kini U, Joss S, von der Lippe C, Gordon CT, Humberson JB, Robak L, Scott DA et al. (2019)
   Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability
   Am J Hum Genet, 104 (3), 530-541
   DOI 10.1016/j.ajhg.2019.01.010, PubMed 30827496
5. Jansen S, van der Werf IM, Innes AM, Afenjar A, Agrawal PB, Anderson IJ, Atwal PS, van Binsbergen E, van den Boogaard MJ, Castiglia L, Coban-Akdemir ZH, van Dijck A, Doummar D, van Eerde AM, van Essen AJ, van Gassen KL, Guillen Sacoto MJ, van Haelst MM, Iossifov I, Jackson JL, Judd E, Kaiwar C, Keren B, Klee EW, Klein Wassink-Ruiter JS et al. (2019)
   De novo variants in FBXO11 cause a syndromic form of intellectual disability with behavioral problems and dysmorphisms
   Eur J Hum Genet, 27 (5), 738-746
   DOI 10.1038/s41431-018-0292-2, PubMed 30679813
6. Kellner ES, Krupski C, Kuehn HS, Rosenzweig SD, Yoshida N, Kojima S, Boutboul D, Latour S, Barlogis V, Galambrun C, Stray-Pedersen A, Erichsen HC, Marsh RA (2019)
   Allogeneic hematopoietic stem cell transplant outcomes for patients with dominant negative IKZF1/IKAROS mutations
   J Allergy Clin Immunol, 144 (1), 339-342
   DOI 10.1016/j.jaci.2019.03.025, PubMed 30965037
7. Knaus A, Kortüm F, Kleefstra T, Stray-Pedersen A, Đukić D, Murakami Y, Gerstner T, van Bokhoven H, Iqbal Z, Horn D, Kinoshita T, Hempel M, Krawitz PM (2019)
   Mutations in PIGU Impair the Function of the GPI Transamidase Complex, Causing Severe Intellectual Disability, Epilepsy, and Brain Anomalies
   Am J Hum Genet, 105 (2), 395-402
   DOI 10.1016/j.ajhg.2019.06.009, PubMed 31353022
8. Lam MT, Coppola S, Krumbach OHF, Prencipe G, Insalaco A, Cifaldi C, Brigida I, Zara E, Scala S, Di Cesare S, Martinelli S, Di Rocco M, Pascarella A, Niceta M, Pantaleoni F, Ciolfi A, Netter P, Carisey AF, Diehl M, Akbarzadeh M, Conti F, Merli P, Pastore A, Levi Mortera S, Camerini S et al. (2019)
   A novel disorder involving dyshematopoiesis, inflammation, and HLH due to aberrant CDC42 function
   J Exp Med, 216 (12), 2778-2799
   DOI 10.1084/jem.20190147, PubMed 31601675
9. Volpi S, Cicalese MP, Tuijnenburg P, Tool ATJ, Cuadrado E, Abu-Halaweh M, Ahanchian H, Alzyoud R, Akdemir ZC, Barzaghi F, Blank A, Boisson B, Bottino C, Brigida I, Caorsi R, Casanova JL, Chiesa S, Chinn IK, Dückers G, Enders A, Erichsen HC, Forbes LR, Gambin T, Gattorno M, Karimiani EG et al. (2019)
   A combined immunodeficiency with severe infections, inflammation, and allergy caused by ARPC1B deficiency
   J Allergy Clin Immunol, 143 (6), 2296-2299
   DOI 10.1016/j.jaci.2019.02.003, PubMed 30771411
10. Zhang B, Ayuda-Durán P, Piechaczyk L, Fløisand Y, Safont MM, Karlsen IT, Fandalyuk Z, Tadele D, van Mierlo P, Rowe AD, Robertson JM, Gjertsen BT, McCormack E, Enserink JM (2019)
    GRP94 rewires and buffers the FLT3-ITD signaling network and promotes survival of acute myeloid leukemic stem cells
    Haematologica, 104 (5), e229
    DOI 10.3324/haematol.2019.220533, PubMed 31040234

Publications 2018

1. Ahmadi A, Rosnes I, Blicher P, Diekmann R, Schüttpelz M, Glette K, Tørresen J, Bjørås M, Dalhus B, Rowe AD (2018)
   Breaking the speed limit with multimode fast scanning of DNA by Endonuclease V
   Nat Commun, 9 (1), 5381
   DOI 10.1038/s41467-018-07797-4, PubMed 30568191
2. Aresvik DM, Øverland T, Lima K, Pettersen RD, Abrahamsen TG (2018)
   Lymphocyte Apoptosis and FAS Expression in Patients with 22q11.2 Deletion Syndrome
   J Clin Immunol, 39 (1), 65-74
   DOI 10.1007/s10875-018-0579-7, PubMed 30569262
3. Cheng H, Dharmadhikari AV, Varland S, Ma N, Domingo D, Kleyner R, Rope AF, Yoon M, Stray-Pedersen A, Posey JE, Crews SR, Eldomery MK, Akdemir ZC, Lewis AM, Sutton VR, Rosenfeld JA, Conboy E, Agre K, Xia F, Walkiewicz M, Longoni M, High FA, van Slegtenhorst MA, Mancini GMS, Finnila CR et al. (2018)
   Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies
   Am J Hum Genet, 102 (5), 985-994
   DOI 10.1016/j.ajhg.2018.03.004, PubMed 29656860
4. Chinn IK, Eckstein OS, Peckham-Gregory EC, Goldberg BR, Forbes LR, Nicholas SK, Mace EM, Vogel TP, Abhyankar HA, Diaz MI, Heslop HE, Krance RA, Martinez CA, Nguyen TC, Bashir DA, Goldman JR, Stray-Pedersen A, Pedroza LA, Poli MC, Aldave-Becerra JC, McGhee SA, Al-Herz W, Chamdin A, Coban-Akdemir ZH, Jhangiani SN et al. (2018)
   Genetic and mechanistic diversity in pediatric hemophagocytic lymphohistiocytosis
   Blood, 132 (1), 89-100
   DOI 10.1182/blood-2017-11-814244, PubMed 29632024
5. Lång A, Øye A, Eriksson J, Rowe AD, Lång E, Bøe SO (2018)
   Influence of acute promyelocytic leukemia therapeutic drugs on nuclear pore complex density and integrity
   Biochem Biophys Res Commun, 499 (3), 570-576
   DOI 10.1016/j.bbrc.2018.03.191, PubMed 29596829
6. Makrythanasis P, Maroofian R, Stray-Pedersen A, Musaev D, Zaki MS, Mahmoud IG, Selim L, Elbadawy A, Jhangiani SN, Coban Akdemir ZH, Gambin T, Sorte HS, Heiberg A, McEvoy-Venneri J, James KN, Stanley V, Belandres D, Guipponi M, Santoni FA, Ahangari N, Tara F, Doosti M, Iwaszkiewicz J, Zoete V, Backe PH et al. (2018)
   Biallelic variants in KIF14 cause intellectual disability with microcephaly
   Eur J Hum Genet, 26 (3), 330-339
   DOI 10.1038/s41431-017-0088-9, PubMed 29343805
7. Salvador CL, Tøndel C, Rowe AD, Bjerre A, Brun A, Brackman D, Mørkrid L (2018)
   Estimating glomerular filtration rate in children: evaluation of creatinine- and cystatin C-based equations
   Pediatr Nephrol, 34 (2), 301-311
   DOI 10.1007/s00467-018-4067-3, PubMed 30171354
8. Sjaastad O, Blau N, Rydning SL, Peters V, Rødningen O, Stray-Pedersen A, Krossnes B, Tallaksen C, Koht J (2018)
   Homocarnosinosis: A historical update and findings in the SPG11 gene
   Acta Neurol Scand, 138 (3), 245-250
   DOI 10.1111/ane.12949, PubMed 29732542
9. Skogseid IM, Røsby O, Konglund A, Connelly JP, Nedregaard B, Jablonski GE, Kvernmo N, Stray-Pedersen A, Glover JC (2018)
   Dystonia-deafness syndrome caused by ACTB p.Arg183Trp heterozygosity shows striatal dopaminergic dysfunction and response to pallidal stimulation
   J Neurodev Disord, 10 (1), 17
   DOI 10.1186/s11689-018-9235-z, PubMed 29788902
10. Støve SI, Blenski M, Stray-Pedersen A, Wierenga KJ, Jhangiani SN, Akdemir ZC, Crawford D, McTiernan N, Myklebust LM, Purcarin G, McNall-Knapp R, Wadley A, Belmont JW, Kim JJ, Lupski JR, Arnesen T (2018)
    A novel NAA10 variant with impaired acetyltransferase activity causes developmental delay, intellectual disability, and hypertrophic cardiomyopathy
    Eur J Hum Genet, 26 (9), 1294-1305
    DOI 10.1038/s41431-018-0136-0, PubMed 29748569
11. Yuan B, Neira J, Pehlivan D, Santiago-Sim T, Song X, Rosenfeld J, Posey JE, Patel V, Jin W, Adam MP, Baple EL, Dean J, Fong CT, Hickey SE, Hudgins L, Leon E, Madan-Khetarpal S, Rawlins L, Rustad CF, Stray-Pedersen A, Tveten K, Wenger O, Diaz J, Jenkins L, Martin L et al. (2018)
    Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies
    Genet Med, 21 (3), 663-675
    DOI 10.1038/s41436-018-0085-6, PubMed 30158690
12. Zhang B, Durán PA, Piechaczyk L, Fløisand Y, Safont MMS, Karlsen IT, Fandalyuk Z, Tadele D, Mierlo PV, Rowe AD, Robertson JM, Gjertsen BT, McCormack E, Enserink JM, Bjørn Tore Gjertsen Group, Emmet McCormack Group (2018)
    GRP94 rewires and buffers the FLT3-ITD signaling network and promotes survival of acute myeloid leukemic stem cells
    Haematologica, Online ahead of print (in press) (Retracted)
    DOI 10.3324/haematol.2018.189399, PubMed 29748445

Publications 2017

1. Chinn IK, Sanders RP, Stray-Pedersen A, Coban-Akdemir ZH, Kim VH, Dadi H, Roifman CM, Quigg T, Lupski JR, Orange JS, Hanson IC (2017)
   Novel Combined Immune Deficiency and Radiation Sensitivity Blended Phenotype in an Adult with Biallelic Variations in ZAP70 and RNF168
   Front Immunol, 8, 576
   DOI 10.3389/fimmu.2017.00576, PubMed 28603521
2. Eldomery MK, Coban-Akdemir Z, Harel T, Rosenfeld JA, Gambin T, Stray-Pedersen A, Küry S, Mercier S, Lessel D, Denecke J, Wiszniewski W, Penney S, Liu P, Bi W, Lalani SR, Schaaf CP, Wangler MF, Bacino CA, Lewis RA, Potocki L, Graham BH, Belmont JW, Scaglia F, Orange JS, Jhangiani SN et al. (2017)
   Lessons learned from additional research analyses of unsolved clinical exome cases
   Genome Med, 9 (1), 26
   DOI 10.1186/s13073-017-0412-6, PubMed 28327206
3. Gambin T, Akdemir ZC, Yuan B, Gu S, Chiang T, Carvalho CMB, Shaw C, Jhangiani S, Boone PM, Eldomery MK, Karaca E, Bayram Y, Stray-Pedersen A, Muzny D, Charng WL, Bahrambeigi V, Belmont JW, Boerwinkle E, Beaudet AL, Gibbs RA, Lupski JR (2017)
   Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort
   Nucleic Acids Res, 45 (4), 1633-1648
   DOI 10.1093/nar/gkw1237, PubMed 27980096
4. Gul KA, Sonerud T, Fjærli HO, Nakstad B, Abrahamsen TG, Inchley CS (2017)
   Thymus activity measured by T-cell receptor excision circles in patients with different severities of respiratory syncytial virus infection
   BMC Infect Dis, 17 (1), 18
   DOI 10.1186/s12879-016-2148-0, PubMed 28056841
5. Kvisvik B, Morkrid L, Rosjo H, Cvancarova M, Rowe AD, Eek C, Bendz B, Edvardsen T, Gravning J (2017)
   High-Sensitivity Troponin T vs I in Acute Coronary Syndrome: Prediction of Significant Coronary Lesions and Long-term Prognosis
   Acta Bioquim. Clin. Latinoam., 51 (3), 395-407
6. Pedroza LA, Guerrero N, Stray-Pedersen A, Tafur C, Macias R, Muñoz G, Akdemir ZC, Jhangiani SN, Watkin LB, Chinn IK, Lupski JR, Orange JS (2017)
   First Case of CD40LG Deficiency in Ecuador, Diagnosed after Whole Exome Sequencing in a Patient with Severe Cutaneous Histoplasmosis
   Front Pediatr, 5, 17
   DOI 10.3389/fped.2017.00017, PubMed 28239602
7. Scheffler K, Rachek L, You P, Rowe AD, Wang W, Kuśnierczyk A, Kittelsen L, Bjørås M, Eide L (2017)
   8-oxoguanine DNA glycosylase (Ogg1) controls hepatic gluconeogenesis
   DNA Repair (Amst), 61, 56-62
   DOI 10.1016/j.dnarep.2017.11.008, PubMed 29207315
8. Schoch K, Meng L, Szelinger S, Bearden DR, Stray-Pedersen A, Busk OL, Stong N, Liston E, Cohn RD, Scaglia F, Rosenfeld JA, Tarpinian J, Skraban CM, Deardorff MA, Friedman JN, Akdemir ZC, Walley N, Mikati MA, Kranz PG, Jasien J, McConkie-Rosell A, McDonald M, Wechsler SB, Freemark M, Kansagra S et al. (2017)
   A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay
   Am J Hum Genet, 100 (2), 343-351
   DOI 10.1016/j.ajhg.2016.12.013, PubMed 28132692
9. Witzel M, Petersheim D, Fan Y, Bahrami E, Racek T, Rohlfs M, Puchałka J, Mertes C, Gagneur J, Ziegenhain C, Enard W, Stray-Pedersen A, Arkwright PD, Abboud MR, Pazhakh V, Lieschke GJ, Krawitz PM, Dahlhoff M, Schneider MR, Wolf E, Horny HP, Schmidt H, Schäffer AA, Klein C (2017)
   Chromatin-remodeling factor SMARCD2 regulates transcriptional networks controlling differentiation of neutrophil granulocytes
   Nat Genet, 49 (5), 742-752
   DOI 10.1038/ng.3833, PubMed 28369036

Publications 2016

1. Berg V, Nøst TH, Pettersen RD, Hansen S, Veyhe AS, Jorde R, Odland JØ, Sandanger TM (2016)
   Persistent Organic Pollutants and the Association with Maternal and Infant Thyroid Homeostasis: A Multipollutant Assessment
   Environ Health Perspect, 125 (1), 127-133
   DOI 10.1289/EHP152, PubMed 27219111
2. Bremer S, Bliksrud YT, Rootwelt H, Woldseth B, Tangeraas T, Saeves I, Watle SSV (2016)
   Identification of a novel BCKDHA deletion causing maple syrup urine disease
   Meta Gene, 10, 86-89
   DOI 10.1016/j.mgene.2016.02.004
3. Kvisvik B, Mørkrid L, Røsjø H, Cvancarova M, Rowe AD, Eek C, Bendz B, Edvardsen T, Gravning J (2016)
   High-Sensitivity Troponin T vs I in Acute Coronary Syndrome: Prediction of Significant Coronary Lesions and Long-term Prognosis
   Clin Chem, 63 (2), 552-562
   DOI 10.1373/clinchem.2016.261107, PubMed 27974383
4. Lundman E, Gaup HJ, Bakkeheim E, Olafsdottir EJ, Rootwelt T, Storrøsten OT, Pettersen RD (2016)
   Implementation of newborn screening for cystic fibrosis in Norway. Results from the first three years
   J Cyst Fibros, 15 (3), 318-24
   DOI 10.1016/j.jcf.2015.12.017, PubMed 26795017
5. Prescott TE, Kulseth MA, Heimdal KR, Stadheim B, Hopp E, Gambin T, Coban Akdemir ZH, Jhangiani SN, Muzny DM, Gibbs RA, Lupski JR, Stray-Pedersen A (2016)
   Two male sibs with severe micrognathia and a missense variant in MED12
   Eur J Med Genet, 59 (8), 367-72
   DOI 10.1016/j.ejmg.2016.06.001, PubMed 27286923
6. Samarakoon PS, Sorte HS, Stray-Pedersen A, Rødningen OK, Rognes T, Lyle R (2016)
   cnvScan: a CNV screening and annotation tool to improve the clinical utility of computational CNV prediction from exome sequencing data
   BMC Genomics, 17, 51
   DOI 10.1186/s12864-016-2374-2, PubMed 26764020
7. Skauli N, Wallace S, Chiang SC, Barøy T, Holmgren A, Stray-Pedersen A, Bryceson YT, Strømme P, Frengen E, Misceo D (2016)
   Novel PIGT Variant in Two Brothers: Expansion of the Multiple Congenital Anomalies-Hypotonia Seizures Syndrome 3 Phenotype
   Genes (Basel), 7 (12)
   DOI 10.3390/genes7120108, PubMed 27916860
8. Sorte HS, Osnes LT, Fevang B, Aukrust P, Erichsen HC, Backe PH, Abrahamsen TG, Kittang OB, Øverland T, Jhangiani SN, Muzny DM, Vigeland MD, Samarakoon P, Gambin T, Akdemir ZH, Gibbs RA, Rødningen OK, Lyle R, Lupski JR, Stray-Pedersen A (2016)
   A potential founder variant in CARMIL2/RLTPR in three Norwegian families with warts, molluscum contagiosum, and T-cell dysfunction
   Mol Genet Genomic Med, 4 (6), 604-616
   DOI 10.1002/mgg3.237, PubMed 27896283
9. Yu H, Zhang VW, Stray-Pedersen A, Hanson IC, Forbes LR, de la Morena MT, Chinn IK, Gorman E, Mendelsohn NJ, Pozos T, Wiszniewski W, Nicholas SK, Yates AB, Moore LE, Berge KE, Sorte H, Bayer DK, ALZahrani D, Geha RS, Feng Y, Wang G, Orange JS, Lupski JR, Wang J, Wong LJ (2016)
   Rapid molecular diagnostics of severe primary immunodeficiency determined by using targeted next-generation sequencing
   J Allergy Clin Immunol, 138 (4), 1142-1151.e2
   DOI 10.1016/j.jaci.2016.05.035, PubMed 27484032

Publications 2015

1. Gul KA, Øverland T, Osnes L, Baumbusch LO, Pettersen RD, Lima K, Abrahamsen TG (2015)
   Neonatal Levels of T-cell Receptor Excision Circles (TREC) in Patients with 22q11.2 Deletion Syndrome and Later Disease Features
   J Clin Immunol, 35 (4), 408-15
   DOI 10.1007/s10875-015-0153-5, PubMed 25814142

Publications 2012

1. Sachse D, Bolstad N, Jonsson M, Sæves I, Johansson CB, Delezuch W, Hagve M, Hardang IM, Isaksson HS, Ivarsson A, Lehto L, Keikkala E, Mattsson N, Ranta JK, Stavelin A, Sudmann AA, Varsi K (2012)
   The Accu-Chek Mobile blood glucose monitoring system used under controlled conditions meets ISO 15197 standards in the hands of diabetes patients
   Scand J Clin Lab Invest, 72 (5), 374-9
   DOI 10.3109/00365513.2012.677544, PubMed 22900743

Publications 2007

1. Hjornevik T, Leergaard TB, Darine D, Moldestad O, Dale AM, Willoch F, Bjaalie JG (2007)
   Three-dimensional atlas system for mouse and rat brain imaging data
   Front Neuroinform, 1, 4
   DOI 10.3389/neuro.11.004.2007, PubMed 18974799

Publications 2005

1. Jarnjak-Jankovic S, Pettersen RD, Saebøe-Larssen S, Wesenberg F, Gaudernack G (2005)
   Evaluation of dendritic cells loaded with apoptotic cancer cells or expressing tumour mRNA as potential cancer vaccines against leukemia
   BMC Cancer, 5, 20
   DOI 10.1186/1471-2407-5-20, PubMed 15720715
2. Jarnjak-Jankovic S, Pettersen RD, Saebøe-Larssen S, Wesenberg F, Olafsen MR, Gaudernack G (2005)
   Preclinical evaluation of autologous dendritic cells transfected with mRNA or loaded with apoptotic cells for immunotherapy of high-risk neuroblastoma
   Cancer Gene Ther, 12 (8), 699-707
   DOI 10.1038/sj.cgt.7700820, PubMed 15846368

Publications 1995

1. Pettersen RD, Saugstad OD, Heyerdahl S, Motzfeldt K, Lie SO (1995)
   [Screening of newborn infants in Norway for severe metabolic disease]
   Tidsskr Nor Laegeforen, 115 (5), 584-7
   PubMed 7900109
2. Pettersen RD, Saugstad OD, Lie SO (1995)
   [Neonatal screening for metabolic diseases--a task without priority in the Norwegian health policy?]
   Tidsskr Nor Laegeforen, 115 (5), 607-8
   PubMed 7900116

Publications 1987

1. Gravem A, Amthor KF, Astrup C, Elgen K, Gjessing LR, Gunby B, Pettersen RD, Kyrdalen L, Vaadal J, Ofsti E (1987)
   A double-blind comparison of citalopram (Lu 10-171) and amitriptyline in depressed patients
   Acta Psychiatr Scand, 75 (5), 478-86
   DOI 10.1111/j.1600-0447.1987.tb02821.x, PubMed 3300171