Author

Siobhan Oisin Burns

Royal Free London NHS Foundation TrustORCID 0000-0002-3356-9506Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Genomics· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Research Focus:differential expression· 1 Research Focus:variant calling· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Adrian James ThrasheriD· 1 shared Alexander HoischeniD· 1 shared Alexandra K. TurveyiD· 1 shared Ali FouladvandiD· 1 shared Allison MatthewsiD· 1 shared Alyssa E. JamesiD· 1 shared Andrea FinocchiiD· 1 shared Anh Thi Van NguyeniD· 1 shared

Activity by Year

2019-2023 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 36 mutual co-author links

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1 shared paperGenomics

Adrian James ThrasherORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicineThe Journal of Experimental MedicinePeer-reviewedFeb 10, 2023

Human Germline Heterozygous Gain-of-Function STAT6 Variants Cause Severe Allergic Disease

Mehul Sharma, Daniel Leung, Mana Momenilandi…·Stuart E. Turvey

This study identifies heterozygous gain-of-function STAT6 variants in two patients with severe allergic disease and shows JAK inhibitors reduce the enhanced STAT6 responses.

125 citationstop 1%

humanstatistical model

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GenomicsbioRxivPreprintJan 15, 2019

GRID - Genomics of Rare Immune Disorders: a highly sensitive and specific diagnostic gene panel for patients with primary immunodeficiencies

Ilenia Simeoni, Olga Shamardina, Sri V. V. Deevi…·Hana Lango Allen

The paper introduces a diagnostic gene panel called GRID for primary immunodeficiencies, showing high sensitivity and specificity in identifying genetic variants across 279 genes.

8 citations

humanwhole-exome sequencing

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