Katherine Dixon - Department of Medical Genetics, The University of British Columbia

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Papers共 41 篇Author StatisticsCo-AuthorSimilar Experts

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Mitofusin 2 Variant Presenting with a Phenotype of Multiple System Atrophy of Cerebellar Subtype

Adrienne Elbert,Katherine Dixon,Yaoqing Shen,Sara Hamilton,Cornelius F. Boerkoel,Steven J. Jones, Anish K. Kanungo

NEUROLOGY-GENETICSno. 1 (2024)

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Long-read Sequencing of an Advanced Cancer Cohort Resolves Rearrangements, Unravels Haplotypes, and Reveals Methylation Landscapes

Cell genomicsno. 11 (2024): 100674-100674

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Accurate Parent-of-origin Variant Assignment for Multiple Hereditary Cancer Syndromes Using Proband-Only Blood Sample Analysis

Kasmintan A. Schrader,Vahid Akbari,Vincent Hanlon, Tiffany Leung,Katherine Dixon,Kieran O'Neill,Alexandra Roston, Lilian Cordova, Karen Wong,Alexandra Fok,David F. Schaeffer,Daniel John Renouf,Dean A. Regier,Alice Virani,Fabio Feldman,Marco A. Marra,Sophie Sun,Stephen Yip,Peter Lansdorp,Steven J. M. Jones

JOURNAL OF CLINICAL ONCOLOGYno. 16 (2024)

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P658: Detection of variant parent-of-origin in diverse hereditary cancer syndromes using only the proband’s blood sample

Kasmintan Schrader,Vahid Akbari,Vincent Hanlon, Tiffany Leung,Katherine Dixon,Kieran O’Neill,Alexandra Roston, Lilian Cordova, Karen Wong,Alshanee Sharma,Yaoqing Shen,Janine Senz, Yanni Wang,Daniel Chan,Alexandra Fok,Quan Hong,Jennifer Nuk,Robin Coope,Eric Chuah,Simon Chan

Genetics in Medicine Open (2024): 101563

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Accurate Inference of Parent-of-origin of Pathogenic Variants in SDHD Without Parental Data

EUROPEAN JOURNAL OF HUMAN GENETICS (2024): 626-626

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O35: Parent-of-origin-aware genomic analysis infers segregation of pathogenic variants in SDHD without parental data*

Genetics in Medicine Openno. 1 (2023): 100461-100461

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