Publications by authors named "C Badduke"

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Multi-Platform Curation in the Development of ACMG/AMP Specifications for Von Hippel Lindau (VHL) Disease.
D I Ritter, C Badduke, K Doonanco, H C Kang, T Pesaran

medRxiv· August 2025

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Prevalence estimate of sphingosine phosphate lyase insufficiency syndrome in worldwide and select populations.
Joni C Sedillo, Chansonette Badduke, Steven J Schrodi, Vinod Scaria, Onur Emre Onat

Genet Med Open· October 2023

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Comprehensive characterization of a Canadian cohort of von Hippel-Lindau disease patients.
Yasser Salama, Saleh Albanyan, Marta Szybowska, Garrett Bullivant, Bailey Gallinger, Chansonette Badduke

Clin Genet· November 2019

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Exome sequencing identified a de novo mutation of PURA gene in a patient with familial Xp22.31 microduplication.
Ying Qiao, Hani Bagheri, Flamingo Tang, Chansonette Badduke, Sally Martell

Eur J Med Genet· February 2019

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Whole exome sequencing of families with 1q21.1 microdeletion or microduplication.
Ying Qiao, Chansonette Badduke, Flamingo Tang, David Cowieson, Sally Martell

Am J Med Genet A· July 2017

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