Priya T. Bhola

Ottawa, ON K1H8L1, Canada

Last Updated: 09/26/2026

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Found 14 publications

SUPT16H-associated neurodevelopmental disorder and neurocristopathy: genetic and phenotypic spectrum.

SUPT16H-associated neurodevelopmental disorder and neurocristopathy: genetic and phenotypic spectrum.

Journal: Human molecular genetics

Published: November 07, 2025

Framework for standardized genetic testing recommendations for chronic kidney disease in Ontario.

Framework for standardized genetic testing recommendations for chronic kidney disease in Ontario.

Journal: Genetics in medicine open

Published: April 07, 2025

Diagnostic Utility of Exome Data Reanalysis After In Silico Multi-Gene Panels or Clinical Exome Testing for Patients With Epilepsy and Developmental Delay/Intellectual Disability: A Retrospective Cohort Study.

Diagnostic Utility of Exome Data Reanalysis After In Silico Multi-Gene Panels or Clinical Exome Testing for Patients With Epilepsy and Developmental Delay/Intellectual Disability: A Retrospective Cohort Study.

Journal: Clinical genetics

Published: March 12, 2025

Identification of a DNA methylation episignature for recurrent constellations of embryonic malformations.

Identification of a DNA methylation episignature for recurrent constellations of embryonic malformations.

Journal: American journal of human genetics

Published: February 27, 2024

Phenotypic heterogeneity associated with KIF21A: Two new cases and review of the literature.

Phenotypic heterogeneity associated with KIF21A: Two new cases and review of the literature.

Journal: American journal of medical genetics. Part A

Published: July 17, 2023

Evaluation of the diagnostic accuracy of exome sequencing and its impact on diagnostic thinking for patients with rare disease in a publicly funded health care system: A prospective cohort study.

Evaluation of the diagnostic accuracy of exome sequencing and its impact on diagnostic thinking for patients with rare disease in a publicly funded health care system: A prospective cohort study.

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

Published: April 21, 2023

Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals.

Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals.

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

Published: March 28, 2023

RNA sequencing to support intronic variant interpretation: A case report of TRAPPC12-related disorder.

RNA sequencing to support intronic variant interpretation: A case report of TRAPPC12-related disorder.

Journal: American journal of medical genetics. Part A

Published: November 18, 2022

Bridging clinical care and research in Ontario, Canada: Maximizing diagnoses from reanalysis of clinical exome sequencing data.

Bridging clinical care and research in Ontario, Canada: Maximizing diagnoses from reanalysis of clinical exome sequencing data.

Journal: Clinical genetics

Published: September 25, 2022

Homozygous WNT9B variants in two families with bilateral renal agenesis/hypoplasia/dysplasia.

Homozygous WNT9B variants in two families with bilateral renal agenesis/hypoplasia/dysplasia.

Journal: American journal of medical genetics. Part A

Published: January 24, 2021

A pilot eConsultation service in Eastern Ontario: bridging clinical genetics and primary care.

A pilot eConsultation service in Eastern Ontario: bridging clinical genetics and primary care.

Journal: European journal of human genetics : EJHG

Published: September 06, 2018

A retrospective review of 48 individuals, including 12 families, molecularly diagnosed with hereditary leiomyomatosis and renal cell cancer (HLRCC).

A retrospective review of 48 individuals, including 12 families, molecularly diagnosed with hereditary leiomyomatosis and renal cell cancer (HLRCC).

Journal: Familial cancer

Published: February 10, 2018

Showing 1-12 of 14

Last Updated: 09/26/2026