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Author Details

Michele Nehrebecky
National Human Genome Research Institute, National Institutes of Health (NIH)
2003
17
11
PMIDPaper TitleJournal TitlePublished Year
37256972Variant <i>STAT4</i> and Response to Ruxolitinib in an Autoinflammatory Syndrome.N Engl J Med2023
35095905The Spectrum of the Deficiency of Adenosine Deaminase 2: An Observational Analysis of a 60 Patient Cohort.Front Immunol2022
35868845Gain-of-function mutations in <i>ALPK1</i> cause an NF-κB-mediated autoinflammatory disease: functional assessment, clinical phenotyping and disease course of patients with ROSAH syndrome.Ann Rheum Dis2022
33619160Systematic evaluation of nine monogenic autoinflammatory diseases reveals common and disease-specific correlations with allergy-associated features.Ann Rheum Dis2021
32601469Ancient familial Mediterranean fever mutations in human pyrin and resistance to Yersinia pestis.Nat Immunol2020
33108101Somatic Mutations in <i>UBA1</i> and Severe Adult-Onset Autoinflammatory Disease.N Engl J Med2020
30574673DDX58 and Classic Singleton-Merten Syndrome.J Clin Immunol2019
30401460Bi-allelic CCDC47 Variants Cause a Disorder Characterized by Woolly Hair, Liver Dysfunction, Dysmorphic Features, and Global Developmental Delay.Am J Hum Genet2018
28603714Defining Disease, Diagnosis, and Translational Medicine within a Homeostatic Perturbation Paradigm: The National Institutes of Health Undiagnosed Diseases Program Experience.Front Med (Lausanne)2017
29052317Defective ciliogenesis in INPP5E-related Joubert syndrome.Am J Med Genet A2017
29136352Cover Image, Volume 173A, Number 12, December 2017.Am J Med Genet A2017
26562225Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiency.Genet Med2016
24784157The implications of familial incidental findings from exome sequencing: the NIH Undiagnosed Diseases Program experience.Genet Med2014
22237431The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseases.Genet Med2012
22749184Neurotransmitter abnormalities and response to supplementation in SPG11.Mol Genet Metab2012
12949593Development of the breast cancer education and risk assessment program.Oncol Nurs Forum2003
15022973The role of estrogens in BRCA1/2 mutation carriers: reflections on the past, issues for the future.Cancer Nurs2003
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Collaborators

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Co-authored papers 5
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Co-authored papers 4
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Co-authored papers 4
Boston University School of Public Health
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Co-authored papers 4
National Institutes of Health Undiagnosed Diseases Program
Co-authored papers 4
National Institute of Diabetes and Digestive and Kidney Diseases
Co-authored papers 4
University of Pretoria
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National Institute of Arthritis and Musculoskeletal and Skin Diseases
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