Asbjørg Stray-Pedersen
Position: Researcher and Senior Consultant, Dr. med.
Phone: 230 77831 / 481 25 234
Email:
 

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
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
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
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
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
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
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
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
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
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
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)
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
PubMed 27896283

Stray-Pedersen A, Sorte HS, Samarakoon P, Gambin T, Chinn IK, Akdemir ZHC, Erichsen HC, Forbes LR, Gu S, Yuan B, Jhangiani SN, Muzny DM, Rødningen OK, Sheng Y, Nicholas SK, Noroski LM, Seeborg FO, Davis C, Canter D, Mace EM, Vece T, Allen CE, Abhyankar HA, Boone P, Beck CR et al. (2016)
Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders
J Allergy Clin Immunol, 139 (1), 232-245
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
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
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
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
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
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
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
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
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
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, 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
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
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
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
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
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
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
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
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
PubMed 18171304

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
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
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
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
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
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
PubMed 15290270

Publications 2003

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

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