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Author Details

Morgan Similuk
National Institute of Allergy and Infectious Diseases, National Institutes of Health
2016
32
12
PMIDPaper TitleJournal TitlePublished Year
37641538Research participants' perspectives about the return of uninformative genomic test results in a clinical research setting.J Genet Couns2024
37953324The Human Phenotype Ontology in 2024: phenotypes around the world.Nucleic Acids Res2024
36763325Correction to: Understanding the phenotypic spectrum and family experiences of XYY syndrome: Important considerations for genetic counseling.J Community Genet2023
37963467The Medical Action Ontology: A tool for annotating and analyzing treatments and clinical management of human disease.Med2023
37709977Perceived control is significantly associated with psychological adaptation in individuals with known or suspected inborn errors of immunity.J Community Genet2023
37503136The Medical Action Ontology: A Tool for Annotating and Analyzing Treatments and Clinical Management of Human Disease.medRxiv2023
37133586Reappraisal of Idiopathic CD4 Lymphocytopenia at 30 Years.N Engl J Med2023
36609636Understanding the phenotypic spectrum and family experiences of XYY syndrome: Important considerations for genetic counseling.J Community Genet2023
36608682Genotype first: Clinical genomics research through a reverse phenotyping approach.Am J Hum Genet2023
34655400A Double-Blind, Placebo-Controlled, Crossover Study of Magnesium Supplementation in Patients with XMEN Disease.J Clin Immunol2022
35351638PhenoRerank: A re-ranking model for phenotypic concept recognition pre-trained on human phenotype ontology.J Biomed Inform2022
35476126The contribution of rare copy number variants in FAS toward pathogenesis of autoimmune lymphoproliferative syndrome.Blood Adv2022
35753512Clinical exome sequencing of 1000 families with complex immune phenotypes: Toward comprehensive genomic evaluations.J Allergy Clin Immunol2022
35987349FOXI3 haploinsufficiency contributes to low T-cell receptor excision circles and T-cell lymphopenia.J Allergy Clin Immunol2022
35980380Genomic tools for health: Secondary findings as findings to be shared.Genet Med2022
33320394Exome sequencing study in a clinical research setting finds general acceptance of study returning secondary genomic findings with little decisional conflict.J Genet Couns2021
33876203SASH3 variants cause a novel form of X-linked combined immunodeficiency with immune dysregulation.Blood2021
33512449Immunodeficiency and bone marrow failure with mosaic and germline TLR8 gain of function.Blood2021
33471061PhenoTagger: a hybrid method for phenotype concept recognition using human phenotype ontology.Bioinformatics2021
30476213Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources.Nucleic Acids Res2019
31333676Corrigendum: Paradoxical CD4 Lymphopenia in Autoimmune Lymphoproliferative Syndrome (ALPS).Front Immunol2019
31191551Paradoxical CD4 Lymphopenia in Autoimmune Lymphoproliferative Syndrome (ALPS).Front Immunol2019
30885710Motivations and Decision Making Processes of Men With X-linked Retinoschisis Considering Participation in an Ocular Gene Therapy Trial.Am J Ophthalmol2019
29408806Loss-of-function CARD8 mutation causes NLRP3 inflammasome activation and Crohn's disease.J Clin Invest2018
29803798Aspergillosis, eosinophilic esophagitis, and allergic rhinitis in signal transducer and activator of transcription 3 haploinsufficiency.J Allergy Clin Immunol2018
30386947Warts and DADA2: a Mere Coincidence?J Clin Immunol2018
31304457Randomized Noninferiority Trial of Telephone vs In-Person Genetic Counseling for Hereditary Breast and Ovarian Cancer: A 12-Month Follow-Up.JNCI Cancer Spectr2017
26969308Patient and genetic counselor perceptions of in-person versus telephone genetic counseling for hereditary breast/ovarian cancer.Fam Cancer2016
26873708Life with a Primary Immune Deficiency: a Systematic Synthesis of the Literature and Proposed Research Agenda.J Clin Immunol2016
27265405Predispositions to Lymphoma: A Practical Review for Genetic Counselors.J Genet Couns2016
27588307Redefined clinical features and diagnostic criteria in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy.JCI Insight2016
26455498Patient Perceptions of Telephone vs. In-Person BRCA1/BRCA2 Genetic Counseling.J Genet Couns2016
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Collaborators

National Institute of Allergy and Infectious Diseases
Co-authored papers 7
Center for Cancer Research, National Cancer Institute
Co-authored papers 5
National Institute of Allergy and Infectious Diseases
Co-authored papers 5
Co-authored papers 4
William Harvey Research Institute, Queen Mary University of London
Co-authored papers 4
Center for the Science of Therapeutics, Broad Institute of MIT and Harvard
Co-authored papers 4
National Institute of Allergy and Infectious Diseases, National Institutes of Health
Co-authored papers 4
International Society for Biocuration, Lawrence Berkeley National Laboratory, University of Edinburgh, University of Edinburgh School of Biological Sciences
Co-authored papers 4
Critical Path Institute
Co-authored papers 4
Co-authored papers 4
American Medical Informatics Association, Oregon Health and Science University, Oregon State University, University of Colorado Anschutz Medical Campus, University of North Carolina at Chapel Hill, University of Wisconsin-Madison
Co-authored papers 4
Children's Hospital of Eastern Ontario Research Institute
Co-authored papers 3
Translational and Clinical Research Institute, Newcastle University
Co-authored papers 3
Co-authored papers 3
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Vall d'Hebron University Hospital and VHIR (Euro-NMD
Co-authored papers 3
Universitatsklinikum des Saarlandes UKS
Co-authored papers 3
Children's Hospital of Eastern Ontario Research Institute
Co-authored papers 3
Columbia University
Co-authored papers 3
National Institute of Allergy and Infectious Diseases, National Institutes of Health
Co-authored papers 2
Renaissance Computing Institute, University of North Carolina
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William Harvey Research Institute, Queen Mary University of London
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National Human Genome Research Institute, National Institutes of Health
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Dana-Farber Cancer Institute
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University of Colorado Anschutz Medical Campus
Co-authored papers 2
University of Colorado Anschutz Medical Campus
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Instituto Politecnico Nacional
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Institute of Epidemiology, Research Unit Molecular Epidemiology
Co-authored papers 2
University of Colorado - Anschutz Medical Campus
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University of California san francisco
Co-authored papers 2