Simone Race

Vancouver, BC, Canada

Last Updated: 09/26/2026

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Found 13 publications

De novo variants in ATP2B1 lead to neurodevelopmental delay.

De novo variants in ATP2B1 lead to neurodevelopmental delay.

Journal: American journal of human genetics

Published: November 12, 2025

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

Where there is no genetic counselor: An online decision-aid supports the majority of parents' diagnostic genomic testing choices for their children.

Where there is no genetic counselor: An online decision-aid supports the majority of parents' diagnostic genomic testing choices for their children.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: February 13, 2024

Real-world diagnostic outcomes and cost-effectiveness of genome-wide sequencing for developmental and seizure disorders: Evidence from Canada.

Real-world diagnostic outcomes and cost-effectiveness of genome-wide sequencing for developmental and seizure disorders: Evidence from Canada.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: July 21, 2023

CUX1-related neurodevelopmental disorder: deep insights into phenotype-genotype spectrum and underlying pathology.

CUX1-related neurodevelopmental disorder: deep insights into phenotype-genotype spectrum and underlying pathology.

Journal: European journal of human genetics : EJHG

Published: December 21, 2022

A novel online genomic counseling and variant interpretation certificate: Learning design, learning analytics, and evaluation.

A novel online genomic counseling and variant interpretation certificate: Learning design, learning analytics, and evaluation.

Journal: Journal of genetic counseling

Published: October 01, 2022

De novo variants in ATP2B1 lead to neurodevelopmental delay.

De novo variants in ATP2B1 lead to neurodevelopmental delay.

Journal: American journal of human genetics

Published: October 14, 2021

Genome-wide sequencing and the clinical diagnosis of genetic disease: The CAUSES study.

Genome-wide sequencing and the clinical diagnosis of genetic disease: The CAUSES study.

Journal: HGG advances

Published: September 16, 2021

Contribution of Multiple Inherited Variants to Autism Spectrum Disorder (ASD) in a Family with 3 Affected Siblings.

Contribution of Multiple Inherited Variants to Autism Spectrum Disorder (ASD) in a Family with 3 Affected Siblings.

Journal: Genes

Published: May 29, 2021

Haploinsufficiency of the Notch Ligand DLL1 Causes Variable Neurodevelopmental Disorders.

Haploinsufficiency of the Notch Ligand DLL1 Causes Variable Neurodevelopmental Disorders.

Journal: American journal of human genetics

Published: May 17, 2019

Improvement of Self-Injury With Dopamine and Serotonin Replacement Therapy in a Patient With a Hemizygous PAK3 Mutation: A New Therapeutic Strategy for Neuropsychiatric Features of an Intellectual Disability Syndrome.

Improvement of Self-Injury With Dopamine and Serotonin Replacement Therapy in a Patient With a Hemizygous PAK3 Mutation: A New Therapeutic Strategy for Neuropsychiatric Features of an Intellectual Disability Syndrome.

Journal: Journal of child neurology

Published: December 17, 2017

The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families.

The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: January 20, 2016

Showing 1-12 of 13

Last Updated: 09/26/2026