Associated Papers
Investigation of the transcriptional impact of rare germline JAK/STAT variants found in a Tyrolean alpine community.
Hennighausen L et al.
Bmc Genomics, 2025
Spotlight on amino acid changing mutations in the JAK-STAT pathway: from disease-specific mutation to general mutation databases.
Hoffmann M et al.
Scientific Reports, 2025
Comprehensive Genomic Profiling Alters Clinical Diagnoses in a Significant Fraction of Tumors Suspicious of Sarcoma.
Öfverholm I et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2024
Network expansion of genetic associations defines a pleiotropy map of human cell biology.
Barrio-Hernandez I et al.
Nature Genetics, 2023
Base editing screens map mutations affecting interferon-γ signaling in cancer.
Coelho MA et al.
Cancer Cell, 2023
Disseminated Mycoplasma Orale Infection in Patients With Phosphoinositide-3-Kinase Regulatory Subunit 1 Mutations.
Totten AH et al.
Open Forum Infectious Diseases, 2022
Prevalence of Pathogenic and Potentially Pathogenic Inborn Error of Immunity Associated Variants in Children with Severe Sepsis.
Kernan KF et al.
Journal of Clinical Immunology, 2022
Clinical Relevance of Gain- and Loss-of-Function Germline Mutations in STAT1: A Systematic Review.
Zhang W et al.
Frontiers in Immunology, 2021
Genetic variability in COVID-19-related genes in the Brazilian population.
Secolin R et al.
Human Genome Variation, 2021
The role of host genetics in susceptibility to severe viral infections in humans and insights into host genetics of severe COVID-19: A systematic review.
Elhabyan A et al.
Virus Research, 2020
Next generation sequencing analysis of consecutive Russian patients with clinical suspicion of inborn errors of immunity.
Suspitsin EN et al.
Clinical Genetics, 2020
Rare Tumor-Normal Matched Whole Exome Sequencing Identifies Novel Genomic Pathogenic Germline and Somatic Aberrations.
Sprissler R et al.
Cancers, 2020
2020 CIS Annual Meeting: Immune Deficiency & Dysregulation North American Conference.
Unknown Author
Journal of Clinical Immunology, 2020
Genetic Sequencing of Pediatric Patients Identifies Mutations in Monogenic Inflammatory Bowel Disease Genes that Translate to Distinct Clinical Phenotypes.
Ashton JJ et al.
Clinical and Translational Gastroenterology, 2020
Multiple Sclerosis patients carry an increased burden of exceedingly rare genetic variants in the inflammasome regulatory genes.
Vidmar L et al.
Scientific Reports, 2019
STAT1 Gain-of-Function Mutations Cause High Total STAT1 Levels With Normal Dephosphorylation.
Zimmerman O et al.
Frontiers in Immunology, 2019
The Goldilocks Zone of Type I IFNs: Lessons from Human Genetics.
Taft J et al.
Journal of Immunology (baltimore, Md. : 1950), 2018
Pathophysiology and Genetics of Bronchiectasis Unrelated to Cystic Fibrosis.
Nikolic A
Lung, 2018
Clinical efficacy of a next-generation sequencing gene panel for primary immunodeficiency diagnostics.
Rae W et al.
Clinical Genetics, 2018
Common Variable Immunodeficiency patients with a phenotypic profile of immunosenescence present with thrombocytopenia.
Stuchlý J et al.
Scientific Reports, 2017
The Extended Clinical Phenotype of 26 Patients with Chronic Mucocutaneous Candidiasis due to Gain-of-Function Mutations in STAT1.
Depner M et al.
Journal of Clinical Immunology, 2016
Pooled Resequencing of 122 Ulcerative Colitis Genes in a Large Dutch Cohort Suggests Population-Specific Associations of Rare Variants in MUC2.
Visschedijk MC et al.
Plos One, 2016
Pulmonary Nontuberculous Mycobacterial Infection. A Multisystem, Multigenic Disease.
Szymanski EP et al.
American Journal of Respiratory and Critical Care Medicine, 2015
Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) and IPEX-related disorders: an evolving web of heritable autoimmune diseases.
Verbsky JW et al.
Current Opinion in Pediatrics, 2013
Dominant gain-of-function STAT1 mutations in FOXP3 wild-type immune dysregulation-polyendocrinopathy-enteropathy-X-linked-like syndrome.
Uzel G et al.
The Journal of Allergy and Clinical Immunology, 2013