Yee B. Au

Calgary, AB, Canada

Last Updated: 09/26/2026

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Found 50 publications

Beyond in silico prediction: multi-omics to identify a pathogenic deep intronic HNRNPK variant in Au-Kline syndrome.

Beyond in silico prediction: multi-omics to identify a pathogenic deep intronic HNRNPK variant in Au-Kline syndrome.

Journal: Journal of human genetics

Published: April 30, 2026

Identification of an additional deep intronic splice variant prompts critical evaluation of SPG7 inheritance.

Identification of an additional deep intronic splice variant prompts critical evaluation of SPG7 inheritance.

Journal: Neurogenetics

Published: October 10, 2025

An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome.

An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome.

Journal: American journal of human genetics

Published: August 08, 2025

Identification of a Second-Hit Brain Somatic DEPDC5 Variant Supports Causality of a DEPDC5 Germline Variant of Uncertain Significance. Time for a Classification Update?

Identification of a Second-Hit Brain Somatic DEPDC5 Variant Supports Causality of a DEPDC5 Germline Variant of Uncertain Significance. Time for a Classification Update?

Journal: American journal of medical genetics. Part A

Published: April 16, 2025

Regulation of Kv2.1 biogenesis and gating by candidate disease-linked Kv6.1 variants.

Regulation of Kv2.1 biogenesis and gating by candidate disease-linked Kv6.1 variants.

Journal: The Journal of biological chemistry

Published: February 02, 2025

Further Delineation of the AUTS2 HX Repeat Domain-Related Phenotype.

Further Delineation of the AUTS2 HX Repeat Domain-Related Phenotype.

Journal: American journal of medical genetics. Part A

Published: December 20, 2024

Exploring the Cognitive and Behavioral Aspects of Shprintzen-Goldberg Syndrome; a Novel Cohort and Literature Review.

Exploring the Cognitive and Behavioral Aspects of Shprintzen-Goldberg Syndrome; a Novel Cohort and Literature Review.

Journal: Clinical genetics

Published: September 29, 2024

Expanding the Phenotypic Spectrum of HNRNPU-Related Disorder, Documenting the First Familial Presentation and Comprehensive Review.

Expanding the Phenotypic Spectrum of HNRNPU-Related Disorder, Documenting the First Familial Presentation and Comprehensive Review.

Journal: American journal of medical genetics. Part A

Published: September 02, 2024

Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function.

Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function.

Journal: Nature genetics

Published: June 16, 2024

Kufor-Rakeb syndrome-associated psychosis: a novel loss-of-function ATP13A2 variant and response to antipsychotic therapy.

Kufor-Rakeb syndrome-associated psychosis: a novel loss-of-function ATP13A2 variant and response to antipsychotic therapy.

Journal: Neurogenetics

Published: April 26, 2024

Genome sequencing identifies biallelic variants in SCLT1 in a patient with syndromic nephronophthisis: Reflections on the SCLT1-related ciliopathy spectrum.

Genome sequencing identifies biallelic variants in SCLT1 in a patient with syndromic nephronophthisis: Reflections on the SCLT1-related ciliopathy spectrum.

Journal: American journal of medical genetics. Part A

Published: April 21, 2024

BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations.

BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations.

Journal: European journal of human genetics : EJHG

Published: January 24, 2024

Showing 1-12 of 50

Last Updated: 09/26/2026