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Experience of carrier couples identified through a population‐based carrier screening pilot program for four founder autosomal recessive diseases in Saguenay–Lac‐Saint‐Jean

Prenatal diagnosis, 2018-01, Vol.38 (1), p.67-74

2018

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Secondary findings from next-generation sequencing: what does actionable in childhood really mean?

Genetics in medicine, 2019-01, Vol.21 (1), p.124-132

2019

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Retrospective analysis of fetal vertebral defects: Associated anomalies, etiologies, and outcome

American journal of medical genetics. Part A, 2020-04, Vol.182 (4), p.664-672

2020

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Homozygous/compound heterozygote RYR1 gene variants: Expanding the clinical spectrum

American journal of medical genetics. Part A, 2019-03, Vol.179 (3), p.386-396

2019

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The value of non-invasive prenatal testing: preferences of Canadian pregnant women, their partners, and health professionals regarding NIPT use and access

BMC pregnancy and childbirth, 2019-01, Vol.19 (1), p.22-22, Article 22

2019

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Metabolically healthy obesity in children enrolled in the CANadian Pediatric Weight management Registry (CANPWR): An exploratory secondary analysis of baseline data

Clinical obesity, 2022-02, Vol.12 (1), p.e12490-n/a

2022

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Child and family experiences with inborn errors of metabolism: a qualitative interview study with representatives of patient groups

Journal of inherited metabolic disease, 2016-01, Vol.39 (1), p.139-147

2016

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Diagnostic and Therapeutic Misconception: Parental Expectations and Perspectives Regarding Genetic Testing for Developmental Disorders

Journal of autism and developmental disorders, 2019-01, Vol.49 (1), p.363-375

2019

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A Novel Recurrent COL5A1 Genetic Variant Is Associated With a Dysplasia-Associated Arterial Disease Exhibiting Dissections and Fibromuscular Dysplasia

Arteriosclerosis, thrombosis, and vascular biology, 2020-11, Vol.40 (11), p.2686-2699

2020

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Finding the sweet spot: a qualitative study exploring patients’ acceptability of chatbots in genetic service delivery

Human genetics, 2023-03, Vol.142 (3), p.321-330

2023

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Individual and family characteristics associated with health indicators at entry into multidisciplinary pediatric weight management: findings from the CANadian Pediatric Weight management Registry (CANPWR)

International Journal of Obesity, 2022-01, Vol.46 (1), p.85-94

2022

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The health system impact of false positive newborn screening results for medium-chain acyl-CoA dehydrogenase deficiency: a cohort study

Orphanet journal of rare diseases, 2016-02, Vol.11 (12), p.12-12, Article 12

2016

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Obesity class versus the Edmonton Obesity Staging System for Pediatrics to define health risk in childhood obesity: results from the CANPWR cross-sectional study

The lancet child & adolescent health, 2019-06, Vol.3 (6), p.398-407

2019

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Health services use among children diagnosed with medium-chain acyl-CoA dehydrogenase deficiency through newborn screening: a cohort study in Ontario, Canada

Orphanet journal of rare diseases, 2019-03, Vol.14 (1), p.70-70, Article 70

2019

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Use of Factor V Leiden genetic testing in practice and impact on management

Genetics in medicine, 2009-10, Vol.11 (10), p.750-756

2009

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A “ Fille du Roy” Introduced the T14484C Leber Hereditary Optic Neuropathy Mutation in French Canadians

American journal of human genetics, 2005-08, Vol.77 (2), p.313-317

2005

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BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells

Brain (London, England : 1878), 2018-08, Vol.141 (8), p.2299-2311

2018

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Motivating factors for physician ordering of factor V Leiden genetic tests

Archives of internal medicine (1960), 2009-01, Vol.169 (1), p.68

2009

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Impact of parental emotional support and coercive control on adolescents' self-esteem and psychological distress: Results of a four-year longitudinal study

Journal of adolescence (London, England.), 2013-08, Vol.36 (4), p.695-704

2013

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Long-term follow-up after division of a pharyngeal flap for severe nasal obstruction

The Cleft palate-craniofacial journal, 1992-01, Vol.29 (1), p.27-31

1992

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Experience of carrier couples identified through a population‐based carrier screening pilot program for four founder autosomal recessive diseases in Saguenay–Lac‐Saint‐Jean

Secondary findings from next-generation sequencing: what does actionable in childhood really mean?

Retrospective analysis of fetal vertebral defects: Associated anomalies, etiologies, and outcome

Homozygous/compound heterozygote RYR1 gene variants: Expanding the clinical spectrum

The value of non-invasive prenatal testing: preferences of Canadian pregnant women, their partners, and health professionals regarding NIPT use and access

Metabolically healthy obesity in children enrolled in the CANadian Pediatric Weight management Registry (CANPWR): An exploratory secondary analysis of baseline data

Child and family experiences with inborn errors of metabolism: a qualitative interview study with representatives of patient groups

Diagnostic and Therapeutic Misconception: Parental Expectations and Perspectives Regarding Genetic Testing for Developmental Disorders

A Novel Recurrent COL5A1 Genetic Variant Is Associated With a Dysplasia-Associated Arterial Disease Exhibiting Dissections and Fibromuscular Dysplasia

Finding the sweet spot: a qualitative study exploring patients’ acceptability of chatbots in genetic service delivery

Individual and family characteristics associated with health indicators at entry into multidisciplinary pediatric weight management: findings from the CANadian Pediatric Weight management Registry (CANPWR)

Joubert Syndrome in French Canadians and Identification of Mutations in CEP104

The health system impact of false positive newborn screening results for medium-chain acyl-CoA dehydrogenase deficiency: a cohort study

Obesity class versus the Edmonton Obesity Staging System for Pediatrics to define health risk in childhood obesity: results from the CANPWR cross-sectional study

Health services use among children diagnosed with medium-chain acyl-CoA dehydrogenase deficiency through newborn screening: a cohort study in Ontario, Canada

Use of Factor V Leiden genetic testing in practice and impact on management

A “ Fille du Roy” Introduced the T14484C Leber Hereditary Optic Neuropathy Mutation in French Canadians

BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells

Motivating factors for physician ordering of factor V Leiden genetic tests

Impact of parental emotional support and coercive control on adolescents' self-esteem and psychological distress: Results of a four-year longitudinal study

Long-term follow-up after division of a pharyngeal flap for severe nasal obstruction

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