Kit Sing Au

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Associate Professor

University of Texas Medical School at Houston

United States

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Kit Sing Au is an Associate Professor at the University of Texas Medical School at Houston, USA. His research areas include genetics and genomics related to neurological conditions, focusing on congenital disorders such as meningomyelocele and tuberous sclerosis complex. Recent publications highlight the role of genetic variations in epilepsy and neural tube defects, with particular emphasis on pathways involving WNT signaling and their implications for patient outcomes.

Recent Grants

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Creating a Myelomeningocele Exome Variant Map

Open Date: 2014-05-01

Close Date: 2019-04-30

Articles (11)

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2025

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2020

Collaborators (6)

Sangmoon Lee

University of California, San Diego

UNITED STATES

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Zoha Kibar

Associate professor

Université de Montréal

CANADA

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Paul R. Hillman

UNITED STATES

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Leontine van Unen

Erasmus University Rotterdam

NETHERLANDS

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MUSTAFA SAHIN

Professor

Boston Children's Hospital

UNITED STATES

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Kirollos Yousef

Assistant Professor

Children's Hospital of Richmond at Virginia Commonwealth University Children's Pavilion

UNITED STATES

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Kit Sing Au

Research Interests

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About

Recent Grants

Articles (11)

The contribution of de novo coding mutations to meningomyelocele.

Common epilepsy variants from the general population are not associated with epilepsy among individuals with tuberous sclerosis complex

Risk of meningomyelocele mediated by the common 22q11.2 deletion

Drug-Resistant Epilepsy in Tuberous Sclerosis Complex Is Associated With TSC2 Genotype: More Findings From the Preventing Epilepsy Using Vigatrin (PREVeNT) Trial

Mild TSC phenotype and non-penetrance associated with a frameshift variant in TSC2 prompts caution in evaluating pathogenicity of frameshift variants

Whole exome sequencing identifies potential candidate genes for spina bifida derived from mouse models

Human myelomeningocele risk and ultra-rare deleterious variants in genes associated with cilium, WNT-signaling, ECM, cytoskeleton and cell migration

Snx3 is important for mammalian neural tube closure via its role in canonical and non-canonical WNT signaling

Burden of rare deleterious variants in WNT signaling genes among 511 myelomeningocele patients.

Identification of novel candidate risk genes for myelomeningocele within the glucose homeostasis/oxidative stress and folate/one-carbon metabolism networks.

Epilepsy Risk Prediction Model for Patients With Tuberous Sclerosis Complex.

Collaborators (6)

Sangmoon Lee

Zoha Kibar

Paul R. Hillman

Leontine van Unen

MUSTAFA SAHIN

Kirollos Yousef

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