Flavia M Facio

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Tracking Uncertainty in Germline Genetic Testing for Inborn Errors of Immunity: Sources, Attributes, and Resolution of Variants of Uncertain Significance in over 44,000 Individuals

Yi-Lee Ting,Elaine Chen,Flavia Facio,Kathryn Hatchell,Sienna Aguilar,Karen Ouyang,Swaroop Aradhya,Britt Johnson

CLINICAL IMMUNOLOGY (2024)

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18 Tracking Uncertainty in Germline Genetic Testing for Inborn Errors of Immunity: Sources, Attributes, and Resolution of Variants of Uncertain Significance in Over 44,000 Individuals

Yi-Lee Ting,Elaine Chen,Flavia Facio,Kathryn Hatchell,Sienna Aguilar,Karen Ouyang,Swaroop Aradhya,Britt Johnson

Clinical Immunology（2024）

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PO-01-182 TRACKING UNCERTAINTY IN GERMLINE GENETIC TESTING FOR ARRHYTHMIAS: SOURCES, ATTRIBUTES, AND RESOLUTION OF VARIANTS OF UNCERTAIN SIGNIFICANCE IN OVER 9,000 INDIVIDUALS

Yi-Lee Ting,Elaine Chen,Flavia M. Facio,Kathryn E. Hatchell,Sienna Aguilar,Karen Ouyang,Swaroop Aradhya,Britt Johnson

Heart Rhythmno. 5 (2024): S176-S177

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Uptake of Risk-Reduction, Surveillance, and Therapeutic Interventions among Patients with Breast Cancer with Pathogenic Germline Variants

Allison W. Kurian,Sarah M. Nielsen Young,Emily M. Russell,Flavia Facio,Chad Moretz,Brandie Heald,Rachel Ellsworth,Daniel Pineda-Alvarez,Ed Esplin,W. Michael Korn,Nadine M. Tung

JOURNAL OF CLINICAL ONCOLOGYno. 16 (2024)

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Tracking Uncertainty in Germline Genetic Testing for Hereditary Cancer Syndromes: Sources, Attributes, and Resolution of Variants of Uncertain Significance in over 1 Million Individuals

Brian Reys,Britt Johnson,Elaine Chen,Yuya Kobayashi,Flavia Facio, Yi-Lee E. Ting,Sarah M. Nielsen Young,Ed Esplin,Kathryn E. Hatchell, Sienna E. Aguillar,Karen E. Ouyang,W. Michael Korn,Swaroop E. Aradhya,Sara Pirzadeh-Miller

JOURNAL OF CLINICAL ONCOLOGYno. 16 (2024)

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P164: Scalable Bayesian Variant Interpretation of Lynch Syndrome Genes Using Genotype and Phenotype Data for over 1.5M Patients Referred for Testing*

Toby Manders,Yuya Kobayashi, Alex Wahl, Baxter Eaves,Flavia Facio, Michael Korn,Britt Johnson,Keith Nykamp

Genetics in Medicine Open (2024): 101061

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Abstract 792: Continuous, Probabilistic Variant Interpretation with Bayesian Graphical Models

Wolfgang Michael Korn,Yuya Kobayashi,Flavia M. Facio, Arun Nampally,Keith Nykamp,Robert Nussbaum,Alexandre Colavin,Britt Johnson,Toby Manders

Cancer Researchno. 6_Supplement (2024): 792-792

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54 Real-World Evaluation of Healthcare Utilization in Patients with a Positive Molecular Diagnosis for Inborn Errors of Immunity

Nicholas Rider,Craig Platt,Yi-Lee Ting, Michael Khayat,Chad Moretz,Flavia Facio,Roshini Abraham,Britt Johnson

CLINICAL IMMUNOLOGY (2024)

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Real-world Cancer Care Utilization among Patients with Breast Cancer with Germline Variants of Uncertain Significance

Allison W. Kurian,Kevin S. Hughes,Sarah M. Nielsen Young,Emily M. Russell,Flavia Facio,Chad Moretz,Rachel Ellsworth,Daniel Esteban Pineda Alvarez,Ed Esplin,W. Michael Korn

JOURNAL OF CLINICAL ONCOLOGYno. 16 (2024)

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O31: The landscape of variant reclassification: Learnings from over 2 million classified variants in over 3.6 million individuals

Britt Johnson,Yuya Kobayashi,Elaine Chen, Dan Swartzlander,Flavia Facio,Swaroop Aradhya

Genetics in Medicine Open (2024): 101472

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论文共 56 篇作者统计合作学者相似作者