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Opinion commune de la SOGC et du CCGM sur le dépistage génétique en contexte de procréation : Mise à jour à l'intention de l'ensemble des prestataires canadiens de soins de santé maternelle et de services en procréation, à l'ère des tests offerts directement aux consommateurs

Journal of obstetrics and gynaecology Canada, 2016-08, Vol.38 (8), p.763-787.e4

2016

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The clinical application of genome-wide sequencing for monogenic diseases in Canada: Position Statement of the Canadian College of Medical Geneticists

Journal of medical genetics, 2015-07, Vol.52 (7), p.431-437

2015

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Further Insights into the Allan-Herndon-Dudley Syndrome: Clinical and Functional Characterization of a Novel MCT8 Mutation

PloS one, 2015-10, Vol.10 (10), p.e0139343-e0139343

2015

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Deep learning prediction of renal anomalies for prenatal ultrasound diagnosis

Scientific reports, 2024-04, Vol.14 (1), p.9013-9013, Article 9013

2024

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Pregnancies with 'double-positive' multiple marker screening results: a population-based study in Ontario, Canada

BMC pregnancy and childbirth, 2024-09, Vol.24 (1), p.584-11, Article 584

2024

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Expanding the clinical spectrum of autosomal‐recessive renal tubular dysgenesis: Two siblings with neonatal survival and review of the literature

Molecular genetics & genomic medicine, 2022-05, Vol.10 (5), p.e1920-n/a

2022

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Joint SOGC–CCMG Opinion for Reproductive Genetic Carrier Screening: An Update for All Canadian Providers of Maternity and Reproductive Healthcare in the Era of Direct-to-Consumer Testing

Journal of obstetrics and gynaecology Canada, 2016-08, Vol.38 (8), p.742-762.e3

2016

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Cardio-facio-cutaneous syndrome: Does genotype predict phenotype?

American journal of medical genetics. Part C, Seminars in medical genetics, 2011-05, Vol.157C (2), p.129-135

2011

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Practice guideline: joint CCMG-SOGC recommendations for the use of chromosomal microarray analysis for prenatal diagnosis and assessment of fetal loss in Canada

Journal of medical genetics, 2018-04, Vol.55 (4), p.215-221

2018

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CAManim: Animating end-to-end network activation maps

PloS one, 2024-06, Vol.19 (6), p.e0296985

2024

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Application of exome sequencing for prenatal diagnosis: a rapid scoping review

Genetics in medicine, 2020-12, Vol.22 (12), p.1925-1934

2020

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Clinical application of fetal genome-wide sequencing during pregnancy: position statement of the Canadian College of Medical Geneticists

Journal of medical genetics, 2022-10, Vol.59 (10), p.931-937

2022

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Cytogenetic outcomes following a failed cell-free DNA screen: a population-based retrospective cohort study of 35,146 singleton pregnancies

American journal of obstetrics and gynecology, 2023-08, Vol.229 (2), p.168.e1-168.e8

2023

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Genome‐wide DNA methylation and RNA analyses enable reclassification of two variants of uncertain significance in a patient with clinical Kabuki syndrome

Human mutation, 2019-10, Vol.40 (10), p.1684-1689

2019

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The Transformative Potential of AI in Obstetrics and Gynaecology

Journal of obstetrics and gynaecology Canada, 2024-03, Vol.46 (3), p.102277-102277, Article 102277

2024

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First and second trimester maternal serum markers for prenatal aneuploidy screening: An update on the adjustment factors for race, smoking, and insulin dependent diabetes mellitus

Clinical biochemistry, 2023-08, Vol.118, p.110596-110596, Article 110596

2023

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Performance of a universal prenatal screening program incorporating cell-free fetal DNA analysis in Ontario, Canada

Canadian Medical Association journal (CMAJ), 2021-08, Vol.193 (30), p.E1156-E1163

2021

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The value of diagnostic testing for parents of children with rare genetic diseases

Genetics in medicine, 2019-12, Vol.21 (12), p.2798-2806

2019

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The Clinician-reported Genetic testing Utility InDEx (C-GUIDE) for Prenatal Care: Initial evidence of content and construct validity

Genetics in medicine, 2024-10, p.101306, Article 101306

2024

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Health-care practitioners’ preferences for the return of secondary findings from next-generation sequencing: a discrete choice experiment

Genetics in medicine, 2020-12, Vol.22 (12), p.2011-2019

2020

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Outcomes of pregnancies with varying levels of nuchal translucency measurements: A population-based retrospective study in Ontario, Canada

Acta obstetricia et gynecologica Scandinavica, 2024-09

2024

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Identification of a pathogenic FTO mutation by next-generation sequencing in a newborn with growth retardation and developmental delay

Journal of medical genetics, 2016-03, Vol.53 (3), p.200-207

2016

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

American journal of human genetics, 2024-08, Vol.111 (8), p.1643-1655

2024

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NID1 variant associated with occipital cephaloceles in a family expressing a spectrum of phenotypes

American journal of medical genetics. Part A, 2019-05, Vol.179 (5), p.837-841

2019

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Opinion commune de la SOGC et du CCGM sur le dépistage génétique en contexte de procréation : Mise à jour à l'intention de l'ensemble des prestataires canadiens de soins de santé maternelle et de services en procréation, à l'ère des tests offerts directement aux consommateurs

The clinical application of genome-wide sequencing for monogenic diseases in Canada: Position Statement of the Canadian College of Medical Geneticists

Further Insights into the Allan-Herndon-Dudley Syndrome: Clinical and Functional Characterization of a Novel MCT8 Mutation

Deep learning prediction of renal anomalies for prenatal ultrasound diagnosis

Pregnancies with 'double-positive' multiple marker screening results: a population-based study in Ontario, Canada

Molecular characterization of NRXN1 deletions from 19,263 clinical microarray cases identifies exons important for neurodevelopmental disease expression

Expanding the clinical spectrum of autosomal‐recessive renal tubular dysgenesis: Two siblings with neonatal survival and review of the literature

Joint SOGC–CCMG Opinion for Reproductive Genetic Carrier Screening: An Update for All Canadian Providers of Maternity and Reproductive Healthcare in the Era of Direct-to-Consumer Testing

Cardio-facio-cutaneous syndrome: Does genotype predict phenotype?

Practice guideline: joint CCMG-SOGC recommendations for the use of chromosomal microarray analysis for prenatal diagnosis and assessment of fetal loss in Canada

CAManim: Animating end-to-end network activation maps

Application of exome sequencing for prenatal diagnosis: a rapid scoping review

Clinical application of fetal genome-wide sequencing during pregnancy: position statement of the Canadian College of Medical Geneticists

Cytogenetic outcomes following a failed cell-free DNA screen: a population-based retrospective cohort study of 35,146 singleton pregnancies

Genome‐wide DNA methylation and RNA analyses enable reclassification of two variants of uncertain significance in a patient with clinical Kabuki syndrome

The Transformative Potential of AI in Obstetrics and Gynaecology

First and second trimester maternal serum markers for prenatal aneuploidy screening: An update on the adjustment factors for race, smoking, and insulin dependent diabetes mellitus

Performance of a universal prenatal screening program incorporating cell-free fetal DNA analysis in Ontario, Canada

The value of diagnostic testing for parents of children with rare genetic diseases

The Clinician-reported Genetic testing Utility InDEx (C-GUIDE) for Prenatal Care: Initial evidence of content and construct validity

Health-care practitioners’ preferences for the return of secondary findings from next-generation sequencing: a discrete choice experiment

Outcomes of pregnancies with varying levels of nuchal translucency measurements: A population-based retrospective study in Ontario, Canada

Identification of a pathogenic FTO mutation by next-generation sequencing in a newborn with growth retardation and developmental delay

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

NID1 variant associated with occipital cephaloceles in a family expressing a spectrum of phenotypes

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