Publications 2023

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

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, 107113 (in press)
DOI 10.1016/j.eplepsyres.2023.107113, PubMed 36906427

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, Muchart López J, Ozturkmen-Akay H, Karaca M, Tekin M, Pajares S et al. (2023)
BCKDK deficiency: a treatable neurodevelopmental disease amenable to newborn screening
Brain (in press)
DOI 10.1093/brain/awad010, PubMed 36729635

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

Publications 2022

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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 2005

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

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

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

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

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