publication venue for
- eP160: Bilateral oophorectomy and the risk of breast cancer in women with a pathogenic variant in BRCA1: A reappraisal 2022
- Incidence of Smith-Lemli-Opitz syndrome in Canada: results of a 36 month surveillance program. 2004
- Long-term correction of sialidase deficiency in cells and mice by recombinant helper-dependent adenovirus-mediated gene transfer. 2004
- Monosomy 1p36: deletions and rearrangements. 2004
- 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. 26. 2024
- 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. 26:101012-101012. 2024
- Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies with evidence for primary cilia-dependent defects in Hedgehog signaling. 24:2065-2078. 2022
- Correction to: An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids. 23:2467-2467. 2021
- Correction to: Cystic fibrosis–related diabetes onset can be predicted using biomarkers measured at birth. 23:2235-2236. 2021
- A pathogenic UFSP2 variant in an autosomal recessive form of pediatric neurodevelopmental anomalies and epilepsy. 23:900-908. 2021
- Cystic fibrosis–related diabetes onset can be predicted using biomarkers measured at birth. 23:927-933. 2021
- Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia. 23:881-887. 2021
- An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids. 23:740-750. 2021
- The role of clinical response to treatment in determining pathogenicity of genomic variants. 23:581-585. 2021
- Assessing non-Mendelian inheritance in inherited axonopathies. 22:2114-2119. 2020
- DYNC2H1 hypomorphic or retina-predominant variants cause nonsyndromic retinal degeneration. 22:2041-2051. 2020
- Defining the clinical phenotype of Saul–Wilson syndrome. 22:857-866. 2020
- Health-care providers’ perspectives on uncertainty generated by variant forms of newborn screening targets. 22:566-573. 2020
- Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies. 21:1797-1807. 2019
- Data sharing as a national quality improvement program: reporting on BRCA1 and BRCA2 variant-interpretation comparisons through the Canadian Open Genetics Repository (COGR). 20:294-302. 2018
- De novo and rare inherited copy-number variations in the hemiplegic form of cerebral palsy. 20:172-180. 2018
- Health effects of the CPT1A P479L variant: responsible public health policy. 19:1380-1382. 2017
- Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society. 19:1380-1397. 2017
- Response to Newman et al.. 19:1380-1381. 2017
- Correction: Corrigendum: The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype–phenotype correlations. 19:962-962. 2017
- Molecular characterization of NRXN1 deletions from 19,263 clinical microarray cases identifies exons important for neurodevelopmental disease expression. 19:53-61. 2017
- The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype–phenotype correlations. 18:1143-1150. 2016
- Multigene panels in prostate cancer risk assessment: a systematic review. 18:535-544. 2016
- Prevalence of meconium ileus marks the severity of mutations of the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene. 18:333-340. 2016
- Exome sequencing identifies rare variants in multiple genes in atrioventricular septal defect. 18:189-198. 2016
- Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society. 17:689-701. 2015
- Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity. 17:460-466. 2015
- Evidence synthesis and guideline development in genomic medicine: current status and future prospects. 17:63-67. 2015
- The current state of cancer family history collection tools in primary care: a systematic review. 11:495-506. 2009
- Distribution of CFTR mutations in Saguenay-Lac-Saint-Jean: proposal of a panel of mutations for population screening (vol 10, pg 201, 2008). 11:78-78. 2009
- Erratum. 11:78-78. 2009
- Clinical genetics provider real-time workflow study. 10:915-915. 2008
- Distribution of CFTR mutations in Saguenay-Lac-Saint-Jean: proposal of a panel of mutations for population screening. 10:201-206. 2008
- Distribution of CFTR mutations in Saguenay– Lac-Saint-Jean: proposal of a panel of mutations for population screening. 10:201-206. 2008