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| 36919551 | Going Back to Basics: What is the Target of Prenatal Screening? | Am J Bioeth | 2023 |
| 38088622 | <b>Harvey and Gurvir's Law:</b> Ontario Bill for Quality Prenatal Information about Down Syndrome: Terminology, Feasibility, and Ethical Issues. | J Law Med Ethics | 2023 |
| 37339295 | From Community-Based Carrier Programs to Opportunistic Carrier Screening: How the Objective of Carrier Screening Was Lost in Translation. | Am J Bioeth | 2023 |
| 37225698 | The Experience of Parents of Children With Genetically Determined Leukoencephalopathies With the Health Care System: A Qualitative Study. | J Child Neurol | 2023 |
| 34282509 | Family Experiences with Care for Children with Inherited Metabolic Diseases in Canada: A Cross-Sectional Survey. | Patient | 2022 |
| 35902698 | Views of Canadian healthcare professionals on the future uses of non-invasive prenatal testing: a mixed method study. | Eur J Hum Genet | 2022 |
| 35089840 | The Serious Factor in Expanded Prenatal Genetic Testing. | Am J Bioeth | 2022 |
| 35103570 | Expanded Prenatal Testing: Maintaining a Non-Directive Approach to Promote Reproductive Autonomy. | Am J Bioeth | 2022 |
| 34986037 | Experience of Parents of Children with Genetically Determined Leukoencephalopathies Regarding the Adapted Health Care Services During the COVID-19 Pandemic. | J Child Neurol | 2022 |
| 34617401 | Metabolically healthy obesity in children enrolled in the CANadian Pediatric Weight management Registry (CANPWR): An exploratory secondary analysis of baseline data. | Clin Obes | 2022 |
| 34544840 | Clinical application of fetal genome-wide sequencing during pregnancy: position statement of the Canadian College of Medical Geneticists. | J Med Genet | 2022 |
| 34504287 | Individual and family characteristics associated with health indicators at entry into multidisciplinary pediatric weight management: findings from the CANadian Pediatric Weight management Registry (CANPWR). | Int J Obes (Lond) | 2022 |
| 33095108 | Noninvasive Prenatal Testing: Views of Canadian Pregnant Women and Their Partners Regarding Pressure and Societal Concerns. | AJOB Empir Bioeth | 2021 |
| 33910931 | Genetic burden linked to founder effects in Saguenay-Lac-Saint-Jean illustrates the importance of genetic screening test availability. | J Med Genet | 2021 |
| 35047835 | Variants in <i>LSM7</i> impair LSM complexes assembly, neurodevelopment in zebrafish and may be associated with an ultra-rare neurological disease. | HGG Adv | 2021 |
| 33978453 | Variability in How Canadian Pediatric Weight Management Clinics Deliver Care: Evidence from the CANadian Pediatric Weight Management Registry. | Child Obes | 2021 |
| 34003502 | A rapid scoping review of COVID-19 and vulnerable workers: Intersecting occupational and public health issues. | Am J Ind Med | 2021 |
| 33441113 | A qualitative study of women and partners from Lebanon and Quebec regarding an expanded scope of noninvasive prenatal testing. | BMC Pregnancy Childbirth | 2021 |
| 32938213 | A Novel Recurrent <i>COL5A1</i> Genetic Variant Is Associated With a Dysplasia-Associated Arterial Disease Exhibiting Dissections and Fibromuscular Dysplasia. | Arterioscler Thromb Vasc Biol | 2020 |
| 32041603 | Implementation challenges for an ethical introduction of noninvasive prenatal testing: a qualitative study of healthcare professionals' views from Lebanon and Quebec. | BMC Med Ethics | 2020 |
| 31880412 | Retrospective analysis of fetal vertebral defects: Associated anomalies, etiologies, and outcome. | Am J Med Genet A | 2020 |
| 30361155 | Pre-implantation Genetic Diagnosis: The Road Forward in Canada. | J Obstet Gynaecol Can | 2019 |
| 29875419 | Secondary findings from next-generation sequencing: what does actionable in childhood really mean? | Genet Med | 2019 |
| 31446791 | Implementation science as a leadership capability to improve patient outcomes and value in healthcare. | Healthc Manage Forum | 2019 |
| 31307361 | Toward Broader Genetic Contextualism: Genetic Testing Enters the Age of Evidence-Based Medicine. | Am J Bioeth | 2019 |
| 30952624 | Obesity class versus the Edmonton Obesity Staging System for Pediatrics to define health risk in childhood obesity: results from the CANPWR cross-sectional study. | Lancet Child Adolesc Health | 2019 |
| 30738740 | Canadian Pregnant Women's Preferences Regarding NIPT for Down Syndrome: The Information They Want, How They Want to Get It, and With Whom They Want to Discuss It. | J Obstet Gynaecol Can | 2019 |
| 30902101 | Health services use among children diagnosed with medium-chain acyl-CoA dehydrogenase deficiency through newborn screening: a cohort study in Ontario, Canada. | Orphanet J Rare Dis | 2019 |
| 31160753 | Improving recommendations for genomic medicine: building an evolutionary process from clinical practice advisory documents to guidelines. | Genet Med | 2019 |
| 30630440 | The value of non-invasive prenatal testing: preferences of Canadian pregnant women, their partners, and health professionals regarding NIPT use and access. | BMC Pregnancy Childbirth | 2019 |
| 30652412 | Homozygous/compound heterozygote RYR1 gene variants: Expanding the clinical spectrum. | Am J Med Genet A | 2019 |
| 30284667 | Diagnostic and Therapeutic Misconception: Parental Expectations and Perspectives Regarding Genetic Testing for Developmental Disorders. | J Autism Dev Disord | 2019 |
| 29048418 | Recommending inclusion of HFE C282Y homozygotes in the ACMG actionable gene list: cop-out or stealth move toward population screening? | Genet Med | 2018 |
| 30243228 | Obstetric and cardiac outcomes in women with Marfan syndrome and an aortic root diameter ⿤ 45mm. | Eur J Obstet Gynecol Reprod Biol | 2018 |
| 30025530 | The CANadian Pediatric Weight management Registry (CANPWR): lessons learned from developing and initiating a national, multi-centre study embedded in pediatric clinical practice. | BMC Pediatr | 2018 |
| 29985992 | BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells. | Brain | 2018 |
| 29847254 | Cross-cultural perspectives on decision making regarding noninvasive prenatal testing: A comparative study of Lebanon and Quebec. | AJOB Empir Bioeth | 2018 |
| 30842697 | Paediatricians underuse recommended genetic tests in children with global developmental delay. | Paediatr Child Health | 2018 |
| 28419508 | Experience of carrier couples identified through a population-based carrier screening pilot program for four founder autosomal recessive diseases in Saguenay-Lac-Saint-Jean. | Prenat Diagn | 2018 |
| 29184171 | Points to consider for laboratories reporting results from diagnostic genomic sequencing. | Eur J Hum Genet | 2018 |
| 29280190 | Paediatricians' expectations and perspectives regarding genetic testing for children with developmental disorders. | Acta Paediatr | 2018 |
| 27996925 | Providing Unrestricted Access to Prenatal Testing Does Not Translate to Enhanced Autonomy. | Am J Bioeth | 2017 |
| 29254130 | School-to-work transition for youth with severe physical disabilities: Stakeholder perspectives. | Work | 2017 |
| 28829219 | Occupational Health and Safety in a Vocational Training Program: How Gender Impacts Teachers' Strategies and Power Relationships: Santé et sécurité des stagiaires dans un programme de formation professionnelle: Impact du genre sur les stratégies et rapports de pouvoir. | New Solut | 2017 |
| 26209272 | Child and family experiences with inborn errors of metabolism: a qualitative interview study with representatives of patient groups. | J Inherit Metab Dis | 2016 |
| 26604122 | Genetic Testing in Thoracic Aortic Disease--When, Why, and How? | Can J Cardiol | 2016 |
| 27927250 | Experiences of caregivers of children with inherited metabolic diseases: a qualitative study. | Orphanet J Rare Dis | 2016 |
| 26841949 | The health system impact of false positive newborn screening results for medium-chain acyl-CoA dehydrogenase deficiency: a cohort study. | Orphanet J Rare Dis | 2016 |
| 26724511 | Screening Children for Familial Aortopathies: Tread With Caution. | Can J Cardiol | 2016 |
| 25346098 | Fibrodysplasia ossificans progressiva: bilateral hallux valgus on ultrasound a clue for the first prenatal diagnosis for this condition-clinical report and review of the literature. | Prenat Diagn | 2015 |