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Author

Judith Yancoski

Observed names: J YANCOSKI, J. Yancoski
Institution: Garrahan Hospital
OpenAlex ID: A5081140369
Revisiting Human IL-12Rβ1 Deficiency
2010 · Ludovic de Beaucoudrey, Arina Samarina, et al. · Medicine · 393
Alanine-scanning mutagenesis of human signal transducer and activator of transcription 1 to estimate loss- or gain-of-function variants
2016 · Reiko Kagawa, Ryoji Fujiki, et al. · Journal of Allergy and Clinical Immunology · 58
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Thirteen years of culture-positive M. bovis-BCG infection in an IL-12Rβ1 deficient patient: Treatment and outcome
2005 · S.D. Rosenzweig, J. Yancoski, et al. · Journal of Infection · 28
Increased STAT1 Amounts Correlate with the Phospho-STAT1 Level in STAT1 Gain-of-function Defects
2018 · Andrea R. Bernasconi, Judith Yancoski, et al. · Journal of Clinical Immunology · 21
A 475 years-old founder effect involving IL12RB1: A highly prevalent mutation conferring Mendelian Susceptibility to Mycobacterial Diseases in European descendants
2009 · J. Yancoski, C. Rocco, et al. · Infection Genetics and Evolution · 19
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The interplay between serine proteases and caspase-1 regulates the autophagy-mediated secretion of Interleukin-1 beta in human neutrophils
2022 · Irene A. Keitelman, Carolina M. Shiromizu, et al. · Frontiers in Immunology · 17
Quantification of Epstein-Barr virus load in Argentinean transplant recipients using real-time PCR
2004 · Judith Yancoski, Silvia Danielian, et al. · Journal of Clinical Virology · 17
A Missense Mutation in the Extracellular Domain of Fas: The Most Common Change in Argentinean Patients with Autoimmune Lymphoproliferative Syndrome Represents a Founder Effect
2012 · María Gabriela Simesen de Bielke, Judith Yancoski, et al. · Journal of Clinical Immunology · 12
A novel internalization motif regulates human IFN-γR1 endocytosis
2012 · Judith Yancoski, Mohammed A Sadat, et al. · Journal of Leukocyte Biology · 10
FAS Haploinsufficiency Caused by Extracellular Missense Mutations Underlying Autoimmune Lymphoproliferative Syndrome
2015 · María Gabriela Simesen de Bielke, Laura Perez, et al. · Journal of Clinical Immunology · 7
In silico modeling guides identification of novel JAK1 variants associated with immune dysregulation
2025 · Marie Jeanpierre, Orianne Debeaupuis, et al. · EMBO Molecular Medicine · 3
Cancer Prevalence in Children with Inborn Errors of Immunity: Report from a Single Institution
2024 · María Raquel Mitchell, Luciano Urdinez, et al. · Journal of Clinical Immunology · 3
An Autoinflammatory Syndrome Caused by PSMB9 Deficiency: The Power of Functional Testing to Guide Therapy
2025 · Claudia Merhar, Judith Yancoski, et al. · Journal of Human Immunity · 1
Chronicle of a Gene Foretold: A Family Case Report
2025 · Daiana Natalí Espantoso, Gustavo Vijoditz, et al. · Journal of Human Immunity
A Novel Heterozygous OAS1 Variant in a Child with Systemic Inflammation, Epilepsy, and Urticaria: Expanding the Spectrum of Type I Interferonopathies
2025 · Luis Ignacio Laurito, Lorenzo Erra, et al. · Journal of Human Immunity
A Mild Pediatric Phenotype of PAMI/PAPA Syndrome Associated with PSTPIP1 Variant
2025 · Florencia A. D’Angelo, Alejandra Lampugnani, et al. · Journal of Human Immunity
CARD8: An Emerging Genetic Cause of Autoinflammatory and CVID-Like Syndromes?
2025 · L. Ignacio Uriarte, Lorenzo Erra, et al. · Journal of Human Immunity
Heterozygous IRF2BP2 Variant Associated with Immune Dysregulation and Recurrent Infections
2025 · G. Martin, A. Seminario, et al. · Journal of Human Immunity
Central Nervous System (CNS) Manifestations in Chronic Granolomatous Disease (CGD): Single Pediatric Center Experience
2025 · Celina Franco, Florencia D'Angelo, et al. · Journal of Human Immunity
Understanding Haploinsufficiency of A20: From Clinical Presentation to Functional Tests
2025 · María Giselle Villarreal, Judith Yancoski, et al. · Journal of Human Immunity
MLPA+Ddpcr: Dual Molecular Strategy to Detect Copy Number Variations (CNVs) in Inborn Error of Immunity (IEI) Genes: A Case Study of the WAS Gene
2025 · Verónica Goris, Emma Prieto, et al. · Journal of Human Immunity
Use of Abatacept for Refractory Colitis in an APDS1 Patient: A Case Report
2025 · Celina Franco, Florencia D'Angelo, et al. · Journal of Human Immunity
When ITP Isn’t Just ITP: A Case of SOCS1 Haploinsufficiency with Bone Marrow Hypocellularity in a Pediatric Patient
2025 · Astrid Schellnast Faure, Diana Cabanillas, et al. · Journal of Human Immunity
Functional Consequences of IRF2BP2 Variants in Patients with Isolated Immune Dysregulation
2025 · Judith Yancoski, Belen Almejum, et al. · Journal of Human Immunity
Mutation 1623_1624delGCinsTTand IL-12Rb1 Deficiency: A Mutational Founder Effect on the Most Frequently Affected Gene for Mendelian Susceptibility to Mycobacterial Disease
2008 · Judith Yancoski, Carlos Rocco, et al. · International Journal of Infectious Diseases
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Works count: 26
Citation count: 589
H-index: 9
I10-index: 9
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