Publications 2024

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

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 (in press)
DOI 10.1016/j.jaci.2024.10.018, PubMed 39510364

Chen R, Lukianova E, van der Loeff IS, 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

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

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

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

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

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

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

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

Publications 2021

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

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

Publications 2020

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

Mace EM, Paust S, Conte MI, Baxley RM, Schmit MM, Patil SL, Guilz NC, Mukherjee M, Pezzi AE, Chmielowiec J, Tatineni S, Chinn IK, Akdemir ZC, Jhangiani SN, Muzny DM, Stray-Pedersen A, Bradley RE, Moody M, Connor PP, Heaps AG, Steward C, Banerjee PP, Gibbs RA, Borowiak M, Lupski JR et al. (2020)
Human NK cell deficiency as a result of biallelic mutations in MCM10
J Clin Invest, 130 (10), 5272-5286
DOI 10.1172/JCI134966, PubMed 32865517

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

Publications 2019

Artac H, Emsen A, Ucaryilmaz H, Emiroglu HH, Uygun V, Stray-Pedersen A (2019)
Infliximab therapy for inflammatory colitis in an infant with NEMO deficiency
Immunol Res, 67 (4-5), 450-453
DOI 10.1007/s12026-019-09100-z, PubMed 31713830

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

Publications 2018

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

Fevang B, Fagerli UM, Sorte H, Aarset H, Hov H, Langmyr M, Keil TM, Bjørge E, Aukrust P, Stray-Pedersen A, Gedde-Dahl T (2018)
Runaway Train: A Leaky Radiosensitive SCID with Skin Lesions and Multiple Lymphomas
Case Reports Immunol, 2018, 2053716
DOI 10.1155/2018/2053716, PubMed 29888014

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

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

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

Gabriele M, Vulto-van Silfhout AT, Germain PL, Vitriolo A, Kumar R, Douglas E, Haan E, Kosaki K, Takenouchi T, Rauch A, Steindl K, Frengen E, Misceo D, Pedurupillay CRJ, Stromme P, Rosenfeld JA, Shao Y, Craigen WJ, Schaaf CP, Rodriguez-Buritica D, Farach L, Friedman J, Thulin P, McLean SD, Nugent KM et al. (2017)
YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction
Am J Hum Genet, 100 (6), 907-925
DOI 10.1016/j.ajhg.2017.05.006, PubMed 28575647

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

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

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

Mace EM, Bigley V, Gunesch JT, Chinn IK, Angelo LS, Care MA, Maisuria S, Keller MD, Togi S, Watkin LB, LaRosa DF, Jhangiani SN, Muzny DM, Stray-Pedersen A, Coban Akdemir Z, Smith JB, Hernández-Sanabria M, Le DT, Hogg GD, Cao TN, Freud AG, Szymanski EP, Savic S, Collin M, Cant AJ et al. (2016)
Biallelic mutations in IRF8 impair human NK cell maturation and function
J Clin Invest, 127 (1), 306-320
DOI 10.1172/JCI86276, PubMed 27893462

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

Stray-Pedersen A, Sorte HS, Samarakoon P, Gambin T, Chinn IK, Coban Akdemir ZH, Erichsen HC, Forbes LR, Gu S, Yuan B, Jhangiani SN, Muzny DM, Rødningen OK, Sheng Y, Nicholas SK, Noroski LM, Seeborg FO, Davis CM, Canter DL, Mace EM, Vece TJ, Allen CE, Abhyankar HA, Boone PM, Beck CR et al. (2016)
Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders
J Allergy Clin Immunol, 139 (1), 232-245
DOI 10.1016/j.jaci.2016.05.042, PubMed 27577878

Westin AA, Wester AL, Stray-Pedersen A, Løhne K, Chen Y, Olaussen RW (2016)
The Norwegian Laboratory Coding System - what became of the visions?
Tidsskr Nor Laegeforen, 136 (16), 1370-2
DOI 10.4045/tidsskr.16.0513, PubMed 27637058

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

Depner M, Fuchs S, Raabe J, Frede N, Glocker C, Doffinger R, Gkrania-Klotsas E, Kumararatne D, Atkinson TP, Schroeder HW, Niehues T, Dückers G, Stray-Pedersen A, Baumann U, Schmidt R, Franco JL, Orrego J, Ben-Shoshan M, McCusker C, Jacob CM, Carneiro-Sampaio M, Devlin LA, Edgar JD, Henderson P, Russell RK et al. (2015)
The Extended Clinical Phenotype of 26 Patients with Chronic Mucocutaneous Candidiasis due to Gain-of-Function Mutations in STAT1
J Clin Immunol, 36 (1), 73-84
DOI 10.1007/s10875-015-0214-9, PubMed 26604104

Stray-Pedersen A, Cobben JM, Prescott TE, Lee S, Cang C, Aranda K, Ahmed S, Alders M, Gerstner T, Aslaksen K, Tétreault M, Qin W, Hartley T, Jhangiani SN, Muzny DM, Tarailo-Graovac M, van Karnebeek CD, Care4Rare Canada Consortium, Baylor-Hopkins Center for Mendelian Genomics, Lupski JR, Ren D, Yoon G (2015)
Biallelic Mutations in UNC80 Cause Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual Disability
Am J Hum Genet, 98 (1), 202-9
DOI 10.1016/j.ajhg.2015.11.004, PubMed 26708751

Tønne E, Holdhus R, Stansberg C, Stray-Pedersen A, Petersen K, Brunner HG, Gilissen C, Hoischen A, Prescott T, Steen VM, Fiskerstrand T (2015)
Syndromic X-linked intellectual disability segregating with a missense variant in RLIM
Eur J Hum Genet, 23 (12), 1652-6
DOI 10.1038/ejhg.2015.30, PubMed 25735484

Watkin LB, Jessen B, Wiszniewski W, Vece TJ, Jan M, Sha Y, Thamsen M, Santos-Cortez RL, Lee K, Gambin T, Forbes LR, Law CS, Stray-Pedersen A, Cheng MH, Mace EM, Anderson MS, Liu D, Tang LF, Nicholas SK, Nahmod K, Makedonas G, Canter DL, Kwok PY, Hicks J, Jones KD et al. (2015)
COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis
Nat Genet, 47 (6), 654-60
DOI 10.1038/ng.3279, PubMed 25894502

Publications 2014

Bartholdi D, Stray-Pedersen A, Azzarello-Burri S, Kibaek M, Kirchhoff M, Oneda B, Rødningen O, Schmitt-Mechelke T, Rauch A, Kjaergaard S (2014)
A newly recognized 13q12.3 microdeletion syndrome characterized by intellectual disability, microcephaly, and eczema/atopic dermatitis encompassing the HMGB1 and KATNAL1 genes
Am J Med Genet A, 164A (5), 1277-83
DOI 10.1002/ajmg.a.36439, PubMed 24664804

Milner JD, Vogel TP, Forbes L, Ma CA, Stray-Pedersen A, Niemela JE, Lyons JJ, Engelhardt KR, Zhang Y, Topcagic N, Roberson ED, Matthews H, Verbsky JW, Dasu T, Vargas-Hernandez A, Varghese N, McClain KL, Karam LB, Nahmod K, Makedonas G, Mace EM, Sorte HS, Perminow G, Rao VK, O'Connell MP et al. (2014)
Early-onset lymphoproliferation and autoimmunity caused by germline STAT3 gain-of-function mutations
Blood, 125 (4), 591-9
DOI 10.1182/blood-2014-09-602763, PubMed 25359994

Misceo D, Holmgren A, Louch WE, Holme PA, Mizobuchi M, Morales RJ, De Paula AM, Stray-Pedersen A, Lyle R, Dalhus B, Christensen G, Stormorken H, Tjønnfjord GE, Frengen E (2014)
A dominant STIM1 mutation causes Stormorken syndrome
Hum Mutat, 35 (5), 556-64
DOI 10.1002/humu.22544, PubMed 24619930

Samarakoon PS, Sorte HS, Kristiansen BE, Skodje T, Sheng Y, Tjønnfjord GE, Stadheim B, Stray-Pedersen A, Rødningen OK, Lyle R (2014)
Identification of copy number variants from exome sequence data
BMC Genomics, 15 (1), 661
DOI 10.1186/1471-2164-15-661, PubMed 25102989

Stray-Pedersen A, Backe PH, Sorte HS, Mørkrid L, Chokshi NY, Erichsen HC, Gambin T, Elgstøen KB, Bjørås M, Wlodarski MW, Krüger M, Jhangiani SN, Muzny DM, Patel A, Raymond KM, Sasa GS, Krance RA, Martinez CA, Abraham SM, Speckmann C, Ehl S, Hall P, Forbes LR, Merckoll E, Westvik J et al. (2014)
PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia
Am J Hum Genet, 95 (1), 96-107
DOI 10.1016/j.ajhg.2014.05.007, PubMed 24931394

Stray-Pedersen A, Jouanguy E, Crequer A, Bertuch AA, Brown BS, Jhangiani SN, Muzny DM, Gambin T, Sorte H, Sasa G, Metry D, Campbell J, Sockrider MM, Dishop MK, Scollard DM, Gibbs RA, Mace EM, Orange JS, Lupski JR, Casanova JL, Noroski LM (2014)
Compound heterozygous CORO1A mutations in siblings with a mucocutaneous-immunodeficiency syndrome of epidermodysplasia verruciformis-HPV, molluscum contagiosum and granulomatous tuberculoid leprosy
J Clin Immunol, 34 (7), 871-90
DOI 10.1007/s10875-014-0074-8, PubMed 25073507

Yang Y, Muzny DM, Xia F, Niu Z, Person R, Ding Y, Ward P, Braxton A, Wang M, Buhay C, Veeraraghavan N, Hawes A, Chiang T, Leduc M, Beuten J, Zhang J, He W, Scull J, Willis A, Landsverk M, Craigen WJ, Bekheirnia MR, Stray-Pedersen A, Liu P, Wen S et al. (2014)
Molecular findings among patients referred for clinical whole-exome sequencing
JAMA, 312 (18), 1870-9
DOI 10.1001/jama.2014.14601, PubMed 25326635

Publications 2013

Barøy T, Misceo D, Strømme P, Stray-Pedersen A, Holmgren A, Rødningen OK, Blomhoff A, Helle JR, Stormyr A, Tvedt B, Fannemel M, Frengen E (2013)
Haploinsufficiency of two histone modifier genes on 6p22.3, ATXN1 and JARID2, is associated with intellectual disability
Orphanet J Rare Dis, 8, 3
DOI 10.1186/1750-1172-8-3, PubMed 23294540

Boissé Lomax L, Bayly MA, Hjalgrim H, Møller RS, Vlaar AM, Aaberg KM, Marquardt I, Gandolfo LC, Willemsen M, Kamsteeg EJ, O'Sullivan JD, Korenke GC, Bloem BR, de Coo IF, Verhagen JM, Said I, Prescott T, Stray-Pedersen A, Rasmussen M, Vears DF, Lehesjoki AE, Corbett MA, Bahlo M, Gecz J, Dibbens LM et al. (2013)
'North Sea' progressive myoclonus epilepsy: phenotype of subjects with GOSR2 mutation
Brain, 136 (Pt 4), 1146-54
DOI 10.1093/brain/awt021, PubMed 23449775

Publications 2012

Sorte H, Mørkrid L, Rødningen O, Kulseth MA, Stray-Pedersen A, Matthijs G, Race V, Houge G, Fiskerstrand T, Bjurulf B, Lyle R, Prescott T (2012)
Severe ALG8-CDG (CDG-Ih) associated with homozygosity for two novel missense mutations detected by exome sequencing of candidate genes
Eur J Med Genet, 55 (3), 196-202
DOI 10.1016/j.ejmg.2012.01.003, PubMed 22306853

Publications 2009

Erichsen AK, Koht J, Stray-Pedersen A, Abdelnoor M, Tallaksen CM (2009)
Prevalence of hereditary ataxia and spastic paraplegia in southeast Norway: a population-based study
Brain, 132 (Pt 6), 1577-88
DOI 10.1093/brain/awp056, PubMed 19339254

Prescott TE, Rødningen OK, Bjørnstad A, Stray-Pedersen A (2009)
Two brothers with a microduplication including the MECP2 gene: rapid head growth in infancy and resolution of susceptibility to infection
Clin Dysmorphol, 18 (2), 78-82
DOI 10.1097/MCD.0b013e32831e19cd, PubMed 19057379

Publications 2008

Glosli H, Stray-Pedersen A, Brun AC, Holtmon LW, Tønjum T, Chapgier A, Casanova JL, Abrahamsen TG (2008)
Infections due to various atypical mycobacteria in a Norwegian multiplex family with dominant interferon-gamma receptor deficiency
Clin Infect Dis, 46 (3), e23-7
DOI 10.1086/525855, PubMed 18171304

Stray-Pedersen A (2008)
Ataxia-telangiectasia and other primary immunodeficiency diseases
In Series of dissertations submitted to the Faculty of Medicine, University of Oslo, Unipub, Oslo, no. 626, 1 b. (flere pag.)
BIBSYS 080694853, ISBN 978-82-8072-755-8

Stray-Pedersen A, Vege A, Stray-Pedersen A, Holmskov U, Rognum TO (2008)
Post-neonatal drop in alveolar SP-A expression: biological significance for increased vulnerability to SIDS?
Pediatr Pulmonol, 43 (2), 160-8
DOI 10.1002/ppul.20750, PubMed 18085709

Publications 2007

Clewing JM, Fryssira H, Goodman D, Smithson SF, Sloan EA, Lou S, Huang Y, Choi K, Lücke T, Alpay H, André JL, Asakura Y, Biebuyck-Gouge N, Bogdanovic R, Bonneau D, Cancrini C, Cochat P, Cockfield S, Collard L, Cordeiro I, Cormier-Daire V, Cransberg K, Cutka K, Deschenes G, Ehrich JH et al. (2007)
Schimke immunoosseous dysplasia: suggestions of genetic diversity
Hum Mutat, 28 (3), 273-83
DOI 10.1002/humu.20432, PubMed 17089404

Riise R, Ygge J, Lindman C, Stray-Pedersen A, Bek T, Rødningen OK, Heiberg A (2007)
Ocular findings in Norwegian patients with ataxia-telangiectasia: a 5 year prospective cohort study
Acta Ophthalmol Scand, 85 (5), 557-62
DOI 10.1111/j.1600-0420.2007.00890.x, PubMed 17376192

Publications 2006

Gavin MA, Torgerson TR, Houston E, DeRoos P, Ho WY, Stray-Pedersen A, Ocheltree EL, Greenberg PD, Ochs HD, Rudensky AY (2006)
Single-cell analysis of normal and FOXP3-mutant human T cells: FOXP3 expression without regulatory T cell development
Proc Natl Acad Sci U S A, 103 (17), 6659-64
DOI 10.1073/pnas.0509484103, PubMed 16617117

Publications 2005

Sigstad HM, Stray-Pedersen A, Frøland SS (2005)
Coping, quality of life, and hope in adults with primary antibody deficiencies
Health Qual Life Outcomes, 3, 31
DOI 10.1186/1477-7525-3-31, PubMed 15871746

Publications 2004

Myhre AG, Stray-Pedersen A, Spangen S, Eide E, Veimo D, Knappskog PM, Abrahamsen TG, Husebye ES (2004)
Chronic mucocutaneous candidiasis and primary hypothyroidism in two families
Eur J Pediatr, 163 (10), 604-11
DOI 10.1007/s00431-004-1516-8, PubMed 15290270

Publications 2003

Amundsen HF, Stray-Pedersen A, Tjønnfjord GE, Abrahamsen TG (2003)
[Patients with severe chronic neutropenia]
Tidsskr Nor Laegeforen, 123 (5), 621-3
PubMed 12683187

Amundsen HF, Stray-Pedersen A, Tjønnfjord GE, Abrahamsen TG (2003)
[Chronic neutropenia--subtypes and treatment]
Tidsskr Nor Laegeforen, 123 (5), 624-6
PubMed 12683188