Publications by authors named "Sam McManus"

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Correction to: A Novel Case of IFNAR1 Deficiency Identified a Common Canonical Splice Site Variant in DOCK8 in Western Polynesia: The Importance of Validating Variants of Unknown Significance in Under-Represented Ancestries.
Aimee Huynh, Paul E Gray, Anna Sullivan, Joseph Mackie, Antoine Guerin, Sam McManus

J Clin Immunol· September 2024

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A Novel Case of IFNAR1 Deficiency Identified a Common Canonical Splice Site Variant in DOCK8 in Western Polynesia: The Importance of Validating Variants of Unknown Significance in Under-Represented Ancestries.
Aimee Huynh, Paul E Gray, Anna Sullivan, Joseph Mackie, Antoine Guerin, Sam McManus

J Clin Immunol· August 2024

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Validation of EGFR mutation testing on cytological smears of lung cancer using the Idylla platform.
Cameron Snell, Sam McManus, Kelly Robinson, Wendy Lewis, Samantha Arandelovic

Pathology· October 2022

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WT1 complete gonadal dysgenesis with membranoproliferative glomerulonephritis: case series and literature review.
Erin Anderson, Melanie Aldridge, Ross Turner, James Harraway, Sam McManus

Pediatr Nephrol· October 2022

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Variable expressivity in a four-generation ACDMPV family with a non-coding hypermorphic SNV in trans to the frameshifting FOXF1 variant.
Esra Yıldız Bölükbaşı, Justyna A Karolak, Przemyslaw Szafranski, Tomasz Gambin, Admire Matsika, Sam McManus

Eur J Hum Genet· October 2022

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