Data sharing as a national quality improvement program: reporting on BRCA1 and BRCA2 variant-interpretation comparisons through the Canadian Open Genetics …
…, R Agatep, EL Spriggs, C Chisholm… - Genetics in …, 2018 - nature.com
Purpose The purpose of this study was to develop a national program for Canadian
diagnostic laboratories to compare DNA-variant interpretations and resolve discordant-variant …
diagnostic laboratories to compare DNA-variant interpretations and resolve discordant-variant …
Reinterpretation of sequence variants: one diagnostic laboratory's experience, and the need for standard guidelines
C Chisholm, H Daoud, M Ghani, G Mettler… - Genetics in …, 2018 - nature.com
Purpose The advent of next-generation sequencing resulted in substantial increases in the
number of variants detected, interpreted, and reported by molecular genetics diagnostic …
number of variants detected, interpreted, and reported by molecular genetics diagnostic …
Comparing genome sequencing technologies to improve rare disease diagnostics: a protocol for the evaluation of a pilot project, Genome-wide Sequencing Ontario
…, MK Gillespie, A Szuto, C Chisholm… - … Open Access Journal, 2022 - cmajopen.ca
Background: Genome-wide sequencing has emerged as a promising strategy for the timely
diagnosis of rare diseases, but it is not yet available as a clinical test performed in Canadian …
diagnosis of rare diseases, but it is not yet available as a clinical test performed in Canadian …
Bridging clinical care and research in Ontario, Canada: Maximizing diagnoses from reanalysis of clinical exome sequencing data
…, AE Marshall, G Lemire, L Huang, C Chisholm… - Clinical …, 2023 - Wiley Online Library
We examined the utility of clinical and research processes in the reanalysis of publicly‐funded
clinical exome sequencing data in Ontario, Canada. In partnership with eight sites, we …
clinical exome sequencing data in Ontario, Canada. In partnership with eight sites, we …
Homozygous WNT9B variants in two families with bilateral renal agenesis/hypoplasia/dysplasia
…, R Zou, PT Bhola, C Chisholm… - American Journal of …, 2021 - Wiley Online Library
WNT9B plays a key role in the development of the mammalian urogenital system. It is essential
for the induction of mesonephric and metanephric tubules, the regulation of renal tubule …
for the induction of mesonephric and metanephric tubules, the regulation of renal tubule …
Protocol for a Prospective, Observational Cost-effectiveness Analysis of Returning Secondary Findings of Genome Sequencing for Unexplained Suspected Genetic …
…, CR Marshall, MK Gillespie, A Szuto, C Chisholm… - Clinical Therapeutics, 2023 - Elsevier
Purpose Although costly, genome-wide sequencing (GWS) detects an extensive range of
variants, enhancing our ability to diagnose and assess risk for an increasing number of …
variants, enhancing our ability to diagnose and assess risk for an increasing number of …
Congenital tremor and myopathy secondary to novel MYBPC1 variant
Congenital myopathy with tremor (MYOTREM) is a recently described disorder characterized
by mild myopathy and a postural and intention tremor present since early infancy. …
by mild myopathy and a postural and intention tremor present since early infancy. …
The implementation of an enhanced clinical model to improve the diagnostic yield of exome sequencing for patients with a rare genetic disease: A Canadian …
The introduction of clinical exome sequencing (ES) has provided a unique opportunity to
decrease the diagnostic odyssey for patients living with a rare genetic disease (RGD). ES has …
decrease the diagnostic odyssey for patients living with a rare genetic disease (RGD). ES has …
Expanding the clinical spectrum of ocular anomalies in Noonan syndrome: Axenfeld‐anomaly in a child with PTPN11 mutation
…, S Jougeh‐Doust, C Chisholm… - American Journal of …, 2015 - Wiley Online Library
Ocular anomalies have been frequently reported in Noonan syndrome. Anterior segment
anomalies have been described in 57% of PTPN11 positive patients, with the most common …
anomalies have been described in 57% of PTPN11 positive patients, with the most common …
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 …
Purpose To evaluate the diagnostic utility of publicly funded clinical exome sequencing (ES)
for patients with suspected rare genetic diseases. Methods We prospectively enrolled 297 …
for patients with suspected rare genetic diseases. Methods We prospectively enrolled 297 …
