A. Stray-Pedersen

发表

Lessons learned from additional research analyses of unsolved clinical exome cases

Michael F. Wangler, J. Rosenfeld, J. Lupski, 2017, Genome Medicine.

Syndromic X-linked intellectual disability segregating with a missense variant in RLIM

A. Hoischen, H. Brunner, V. Steen, 2015, European Journal of Human Genetics.

Molecular findings among patients referred for clinical whole-exome sequencing.

Magalie S Leduc, Ankita Patel, J. Lupski, 2014, JAMA.

Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort

C. Shaw, J. Lupski, R. Gibbs, 2016, Nucleic acids research.

Compound Heterozygous CORO1A Mutations in Siblings with a Mucocutaneous-Immunodeficiency Syndrome of Epidermodysplasia Verruciformis-HPV, Molluscum Contagiosum and Granulomatous Tuberculoid Leprosy

J. Lupski, R. Gibbs, D. Muzny, 2014, Journal of Clinical Immunology.

Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders

Ivan K. Chinn, Eric A. Smith, J. Lupski, 2017, The Journal of allergy and clinical immunology.

Update on Kleefstra Syndrome

A. V. Vulto-van Silfhout, W. Reardon, N. Philip, 2012, Molecular Syndromology.

Alpha fetoprotein is increasing with age in ataxia-telangiectasia.

A. Børresen-Dale, A. Stray-Pedersen, E. Paus, 2007, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Vaccine‐associated varicella and rubella infections in severe combined immunodeficiency with isolated CD4 lymphocytopenia and mutations in IL7R detected by tandem whole exome sequencing and chromosomal microarray

Magalie S Leduc, Ankita Patel, C. Shaw, 2014, Clinical and experimental immunology.

Chronic mucocutaneous candidiasis and primary hypothyroidism in two families

A. Stray-Pedersen, P. Knappskog, E. Husebye, 2004, European Journal of Pediatrics.

Germline predisposition to myeloid neoplasms Recommendations for genetic diagnosis, clinical management and follow-up Nordic guidelines

I. Dybedal, K. Grønbæk, A. Stray-Pedersen, 2019 .

A newly recognized 13q12.3 microdeletion syndrome characterized by intellectual disability, microcephaly, and eczema/atopic dermatitis encompassing the HMGB1 and KATNAL1 genes

A. Stray-Pedersen, A. Rauch, S. Kjaergaard, 2014, American journal of medical genetics. Part A.

Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.

Stephan J Sanders, R. Redon, J. Rosenfeld, 2019, American journal of human genetics.

Severe ALG8-CDG (CDG-Ih) associated with homozygosity for two novel missense mutations detected by exome sequencing of candidate genes.

R. Lyle, G. Matthijs, G. Houge, 2012, European journal of medical genetics.

Biallelic variants in KIF14 cause intellectual disability with microcephaly

Kiely N. James, J. Lupski, S. Jhangiani, 2018, European Journal of Human Genetics.

A Nationwide Study of GATA2 Deficiency in Norway—the Majority of Patients Have Undergone Allo-HSCT

B. Fevang, A. Stray-Pedersen, E. Galteland, 2021, Journal of clinical immunology.

'North Sea' progressive myoclonus epilepsy: phenotype of subjects with GOSR2 mutation.

J. Gécz, B. Bloem, S. Berkovic, 2013, Brain : a journal of neurology.

PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia.

Ankita Patel, J. Lupski, R. Gibbs, 2014, American journal of human genetics.

cnvScan: a CNV screening and annotation tool to improve the clinical utility of computational CNV prediction from exome sequencing data

T. Rognes, R. Lyle, A. Stray-Pedersen, 2016, BMC Genomics.

COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis

Mark S. Anderson, Christopher S. Law, J. Lupski, 2015, Nature Genetics.

Recommendations for uniform definitions used in newborn screening for severe combined immunodeficiency

M. van der Burg, J. Puck, A. Gennery, 2021, The Journal of allergy and clinical immunology.

Single-cell analysis of normal and FOXP 3-mutant human T cells : FOXP 3 expression without regulatory T cell development

A. Rudensky, H. Ochs, T. Torgerson, 2006 .

Primary Immunodeficiency Diseases in Norway

A. Stray-Pedersen, S. Frøland, T. Abrahamsen, 2000, Journal of Clinical Immunology.

Biallelic mutations in IRF8 impair human NK cell maturation and function

J. Lupski, R. Gibbs, M. Caligiuri, 2017, The Journal of clinical investigation.

Biallelic mutations in IRF 8 impair human NK cell maturation and function

J. Lupski, R. Gibbs, M. Caligiuri, 2016 .

Schimke immunoosseous dysplasia: suggestions of genetic diversity

C. Cancrini, C. Boerkoel, J. Ehrich, 2007, Human mutation.

Methylated eicosapentaenoic acid and tetradecylthioacetic acid: effects on fatty acid metabolism.

L. Madsen, A. Stray-Pedersen, L. Frøyland, 1999, Biochemical Pharmacology.

A combined immunodeficiency with severe infections, inflammation, and allergy caused by ARPC1B deficiency.

Ivan K. Chinn, J. Lupski, U. Pannicke, 2019, The Journal of allergy and clinical immunology.

A man in his sixties with chondritis and bone marrow failure.

A. Stray-Pedersen, H. Andersson, G. Tjønnfjord, 2022, Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke.

Allogeneic hematopoietic stem cell transplant outcomes for patients with dominant negative IKZF1/IKAROS mutations.

S. Rosenzweig, A. Stray-Pedersen, D. Boutboul, 2019, The Journal of allergy and clinical immunology.

First Case of CD40LG Deficiency in Ecuador, Diagnosed after Whole Exome Sequencing in a Patient with Severe Cutaneous Histoplasmosis

J. Lupski, S. Jhangiani, J. Orange, 2017, Front. Pediatr..

The Extended Clinical Phenotype of 26 Patients with Chronic Mucocutaneous Candidiasis due to Gain-of-Function Mutations in STAT1

J. Franco, T. Torgerson, R. Russell, 2015, Journal of Clinical Immunology.

Explorer The Extended Clinical Phenotype of 26 Patients with Chronic Mucocutaneous Candidiasis due to Gain-of-Function Mutations in STAT 1

J. Franco, T. Torgerson, R. Russell, 2015 .

Genetic errors of immunity distinguish pediatric non-malignant lymphoproliferative disorders.

Ivan K. Chinn, J. Lupski, R. Gibbs, 2021, The Journal of allergy and clinical immunology.

A novel disorder involving dyshematopoiesis, inflammation, and HLH due to aberrant CDC42 function

Ivan K. Chinn, J. Lupski, R. Gibbs, 2019, The Journal of experimental medicine.

Chromatin-remodeling factor SMARCD2 regulates transcriptional networks controlling differentiation of neutrophil granulocytes

A. Schäffer, J. Gagneur, E. Wolf, 2017, Nature Genetics.

A Dominant STIM1 Mutation Causes Stormorken Syndrome

D. Misceo, R. Lyle, A. Stray-Pedersen, 2014, Human mutation.

Severe Progressive Autism Associated with Two de novo Changes: A 2.6-Mb 2q31.1 Deletion and a Balanced t(14;21)(q21.1;p11.2) Translocation with Long-Range Epigenetic Silencing of LRFN5 Expression

A. Hoischen, R. Pfundt, H. Brunner, 2010, Molecular Syndromology.

A novel NAA10 variant with impaired acetyltransferase activity causes developmental delay, intellectual disability, and hypertrophic cardiomyopathy

J. Lupski, S. Jhangiani, J. Belmont, 2018, European Journal of Human Genetics.

Biallelic variants in KIF14 cause intellectual disability with microcephaly

Kiely N. James, J. Lupski, S. Jhangiani, 2018, European Journal of Human Genetics.

Two male sibs with severe micrognathia and a missense variant in MED12.

J. Lupski, R. Gibbs, D. Muzny, 2016, European journal of medical genetics.

Loss of B Cells in Patients with Heterozygous Mutations in IKAROS.

S. South, J. Casanova, W. Dolen, 2016, The New England journal of medicine.

Biallelic Mutations in UNC80 Cause Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual Disability.

J. Lupski, D. Muzny, S. Jhangiani, 2016, American journal of human genetics.

Nordic Guidelines for Germline Predisposition to Myeloid Neoplasms in Adults: Recommendations for Genetic Diagnosis, Clinical Management and Follow-up

O. Kilpivaara, I. Dybedal, K. Grønbæk, 2019, HemaSphere.

A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay.

Michael F. Wangler, J. Rosenfeld, D. Goldstein, 2017, American journal of human genetics.

YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction

J. Rosenfeld, B. V. van Bon, A. V. Vulto-van Silfhout, 2017, American journal of human genetics.

A potential founder variant in CARMIL2/RLTPR in three Norwegian families with warts, molluscum contagiosum, and T‐cell dysfunction

J. Lupski, R. Gibbs, D. Muzny, 2016, Molecular genetics & genomic medicine.

Next-generation sequencing of newborn screening genes: the accuracy of short-read mapping

A. Stray-Pedersen, G. Fournous, A. Rowe, 2020, npj Genomic Medicine.

The Extended Clinical Phenotype of 26 Patients with Chronic Mucocutaneous Candidiasis due to Gain-of-Function Mutations in STAT1

J. Franco, T. Torgerson, R. Russell, 2014, Journal of Clinical Immunology.

Ataxia-telangiectasia and other Primary Immunodeficiency Diseases

A. Stray-Pedersen, 2008 .

Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies

J. Rosenfeld, A. Breman, C. Shaw, 2018, Genetics in Medicine.

Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies.

J. Rosenfeld, R. Pfundt, M. Shaw, 2018, American journal of human genetics.

Molecular findings among patients referred for clinical whole-exome sequencing: Editorial comment

Ankita Patel, J. Lupski, R. Gibbs, 2015 .

Mutations in PIGU Impair the Function of the GPI Transamidase Complex, Causing Severe Intellectual Disability, Epilepsy, and Brain Anomalies.

D. Horn, Alexej Knaus, F. Kortüm, 2019, American journal of human genetics.

Second-Tier Next Generation Sequencing Integrated in Nationwide Newborn Screening Provides Rapid Molecular Diagnostics of Severe Combined Immunodeficiency

A. Stray-Pedersen, Ruth Halsne, L. Osnes, 2020, Frontiers in Immunology.

Infections due to various atypical mycobacteria in a Norwegian multiplex family with dominant interferon-gamma receptor deficiency.

J. Casanova, A. Stray-Pedersen, H. Glosli, 2008, Clinical infectious diseases : an official publication of the Infectious Diseases Society of America.

Genetic and mechanistic diversity in pediatric hemophagocytic lymphohistiocytosis.

Ivan K. Chinn, J. Lupski, R. Gibbs, 2018, Blood.

Identification of copy number variants from exome sequence data

R. Lyle, A. Stray-Pedersen, G. Tjønnfjord, 2014, BMC Genomics.

Identification of copy number variants from exome sequence data

Ying Sheng, Robert Lyle, Pubudu Saneth Samarakoon, 2014, BMC Genomics.

Single-cell analysis of normal and FOXP3-mutant human T cells: FOXP3 expression without regulatory T cell development.

A. Rudensky, H. Ochs, T. Torgerson, 2006, Proceedings of the National Academy of Sciences of the United States of America.

Homocarnosinosis: A historical update and findings in the SPG11 gene

N. Blau, A. Stray-Pedersen, J. Koht, 2018, Acta neurologica Scandinavica.

Early-onset lymphoproliferation and autoimmunity caused by germline STAT3 gain-of-function mutations.

Elisha D O Roberson, Carol J. Saunders, Lina Karam, 2015, Blood.

Infliximab therapy for inflammatory colitis in an infant with NEMO deficiency

A. Stray-Pedersen, H. Artaç, H. Emiroğlu, 2019, Immunologic Research.

Haploinsufficiency of two histone modifier genes on 6p22.3, ATXN1 and JARID2, is associated with intellectual disability

D. Misceo, A. Stray-Pedersen, P. Strømme, 2013, Orphanet Journal of Rare Diseases.

De novo variants in FBXO11 cause a syndromic form of intellectual disability with behavioral problems and dysmorphisms

L. Vissers, R. Pfundt, R. Pettinato, 2019, European Journal of Human Genetics.

Prevalence of hereditary ataxia and spastic paraplegia in southeast Norway: a population-based study.

A. Stray-Pedersen, J. Koht, M. Abdelnoor, 2009, Brain : a journal of neurology.

Rapid molecular diagnostics of severe primary immunodeficiency determined by using targeted next-generation sequencing.

J. Lupski, J. Orange, R. Geha, 2016, The Journal of allergy and clinical immunology.

Dystonia-deafness syndrome caused by ACTB p.Arg183Trp heterozygosity shows striatal dopaminergic dysfunction and response to pallidal stimulation

I. Skogseid, A. Stray-Pedersen, J. Glover, 2018, Journal of Neurodevelopmental Disorders.

Human NK cell deficiency as a result of biallelic mutations in MCM10

Ivan K. Chinn, J. Lupski, R. Gibbs, 2019, bioRxiv.

Runaway Train: A Leaky Radiosensitive SCID with Skin Lesions and Multiple Lymphomas

B. Fevang, A. Stray-Pedersen, U. Fagerli, 2018, Case reports in immunology.

Disease-associated CTNNBL1 mutation impairs somatic hypermutation by decreasing nuclear AID.

J. Lupski, R. Gibbs, D. Schatz, 2020, The Journal of clinical investigation.

Performance of Expanded Newborn Screening in Norway Supported by Post-Analytical Bioinformatics Tools and Rapid Second-Tier DNA Analyses.

S. Ferdinandusse, A. Stray-Pedersen, P. Rinaldo, 2020, International Journal of Neonatal Screening.

Performance of Expanded Newborn Screening in Norway Supported by Post-Analytical Bioinformatics Tools and Rapid Second-Tier DNA Analyses

S. Ferdinandusse, A. Stray-Pedersen, P. Rinaldo, 2020, International journal of neonatal screening.

Ocular findings in Norwegian patients with ataxia-telangiectasia: a 5 year prospective cohort study.

T. Bek, A. Stray-Pedersen, J. Ygge, 2007, Acta ophthalmologica Scandinavica.

The impact of an early truncating founder ATM mutation on immunoglobulins, specific antibodies and lymphocyte populations in ataxia‐telangiectasia patients and their parents

A. Børresen-Dale, A. Stray-Pedersen, I. Aaberge, 2004, Clinical and experimental immunology.

Two brothers with a microduplication including the MECP2 gene: rapid head growth in infancy and resolution of susceptibility to infection

A. Stray-Pedersen, T. Prescott, O. Rødningen, 2009, Clinical dysmorphology.

Novel Combined Immune Deficiency and Radiation Sensitivity Blended Phenotype in an Adult with Biallelic Variations in ZAP70 and RNF168

Ivan K. Chinn, J. Lupski, J. Orange, 2017, Front. Immunol..

Health and Quality of Life Outcomes

A. Stray-Pedersen, S. Frøland, H. Sigstad, 2005 .

Novel PIGT Variant in Two Brothers: Expansion of the Multiple Congenital Anomalies-Hypotonia Seizures Syndrome 3 Phenotype

D. Misceo, A. Stray-Pedersen, P. Strømme, 2016, Genes.

A novel NAA10 variant with impaired acetyltransferase activity causes developmental delay, intellectual disability, and hypertrophic cardiomyopathy

J. Lupski, S. Jhangiani, J. Belmont, 2018, European Journal of Human Genetics.

Compound Heterozygous CORO1A Mutations in Siblings with a Mucocutaneous-Immunodeficiency Syndrome of Epidermodysplasia Verruciformis-HPV, Molluscum Contagiosum and Granulomatous Tuberculoid Leprosy

J. Lupski, R. Gibbs, D. Muzny, 2014, Journal of Clinical Immunology.

A Nationwide Study of GATA2 Deficiency in Norway—the Majority of Patients Have Undergone Allo-HSCT

B. Fevang, A. Stray-Pedersen, E. Galteland, 2021, Journal of clinical immunology.

Pneumococcal conjugate vaccine followed by pneumococcal polysaccharide vaccine; immunogenicity in patients with ataxia‐telangiectasia

A. Stray-Pedersen, I. Aaberge, T. Abrahamsen, 2005, Clinical and experimental immunology.

cnvScan: a CNV screening and annotation tool to improve the clinical utility of computational CNV prediction from exome sequencing data

R. Lyle, A. Stray-Pedersen, H. Sorte, 2016, BMC Genomics.

Dystonia-deafness syndrome caused by ACTB p.Arg183Trp heterozygosity shows striatal dopaminergic dysfunction and response to pallidal stimulation

I. Skogseid, A. Stray-Pedersen, J. Glover, 2018, Journal of Neurodevelopmental Disorders.

Aagenaes syndrome/lymphedema cholestasis syndrome 1 is caused by a founder variant in the 5'-untranslated region of UNC45A.

G. Sullivan, A. Stray-Pedersen, H. Reims, 2023, Journal of hepatology.

Delayed Radiation Myelopathy in a Child With Hodgkin Lymphoma and ARTEMIS Mutation.

A. Stray-Pedersen, Y. Paksoy, H. Artaç, 2020, Journal of pediatric hematology/oncology.

The Norwegian Laboratory Coding System - what became of the visions?

Ying Chen, A. Stray-Pedersen, A. Wester, 2016, Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke.

Loss of B Cells in Patients with Heterozygous Mutations in IKAROS.

S. South, J. Casanova, W. Dolen, 2016, The New England journal of medicine.

Prevalence of hereditary ataxia and spastic paraplegia in southeast Norway: a population-based study.

A. Stray-Pedersen, J. Koht, M. Abdelnoor, 2009, Brain : a journal of neurology.

A Dominant STIM1 Mutation Causes Stormorken Syndrome

D. Misceo, R. Lyle, A. Stray-Pedersen, 2014, Human mutation.

Coping, quality of life, and hope in adults with primary antibody deficiencies

A. Stray-Pedersen, S. Frøland, H. Sigstad, 2005, Health and quality of life outcomes.

Newborn Genetic Screening—Still a Role for Sanger Sequencing in the Era of NGS

A. Stray-Pedersen, T. Tangeraas, J. Strand, 2023, International Journal of Neonatal Screening.

A newly recognized 13q12.3 microdeletion syndrome characterized by intellectual disability, microcephaly, and eczema/atopic dermatitis encompassing the HMGB1 and KATNAL1 genes

A. Stray-Pedersen, A. Rauch, S. Kjaergaard, 2014, American journal of medical genetics. Part A.