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Correspondence on “The prevalence of genetic diagnoses in fetuses with severe congenital heart defects” by Nisselrooij et al

Genetics in medicine, 2021-01, Vol.23 (1), p.234-235

2021

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A distinct neurodevelopmental syndrome with intellectual disability, autism spectrum disorder, characteristic facies, and macrocephaly is caused by defects in CHD8

Journal of human genetics, 2019-04, Vol.64 (4), p.271-280

2019

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Etiologies and outcomes of prenatally diagnosed hyperechogenic kidneys

Prenatal diagnosis, 2021-03, Vol.41 (4), p.465-477

2021

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De novo dominant variants affecting the motor domain of KIF1A are a cause of PEHO syndrome

European journal of human genetics : EJHG, 2016-06, Vol.24 (6), p.949-953

2016

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Clinical response to dabrafenib and chemotherapy in clonally-related histiocytosis and acute lymphoblastic leukemia

Haematologica (Roma), 2023-06, Vol.108 (6), p.1707-1712

2023

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Expansion of non-invasive prenatal screening to the screening of 10 types of chromosomal anomalies: a cost-effectiveness analysis

BMJ open, 2023-08, Vol.13 (8), p.e069485

2023

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Implementation of the BC Congenital Anomalies Surveillance System (BCCASS)

Canadian journal of public health, 2022-06, Vol.113 (3), p.465-473

2022

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Comprehensive whole genome sequence analyses yields novel genetic and structural insights for Intellectual Disability

BMC genomics, 2017-05, Vol.18 (1), p.403-403, Article 403

2017

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Mutations in origin recognition complex gene ORC4 cause Meier-Gorlin syndrome

Nature genetics, 2011-04, Vol.43 (4), p.360-364

2011

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P537: Evaluating parental empowerment and satisfaction in neonatal intensive care units for families experiencing genetic testing: A mixed-methods study

Genetics in Medicine Open, 2024, Vol.2, p.101436, Article 101436

2024

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Current Status in Non-Invasive Prenatal Detection of Down Syndrome, Trisomy 18, and Trisomy 13 Using Cell-Free DNA in Maternal Plasma

Journal of obstetrics and gynaecology Canada, 2013-02, Vol.35 (2), p.177-181

2013

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Non‐invasive prenatal testing for the prenatal screening of sex chromosome aneuploidies: A systematic review and meta‐analysis of diagnostic test accuracy studies

Molecular genetics & genomic medicine, 2021-05, Vol.9 (5), p.e1654-n/a

2021

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Prenatal screening and diagnosis of sex chromosome conditions: The new normal?

Prenatal diagnosis, 2023-02, Vol.43 (2), p.131-132

2023

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Obstetrical Complications Associated With Abnormal Maternal Serum Markers Analytes

Journal of obstetrics and gynaecology Canada, 2008-10, Vol.30 (10), p.918-932

2008

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Prediction of obstetrical risk using maternal serum markers and clinical risk factors

Prenatal diagnosis, 2014-02, Vol.34 (2), p.172-179

2014

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Single exon-resolution targeted chromosomal microarray analysis of known and candidate intellectual disability genes

European journal of human genetics : EJHG, 2014-06, Vol.22 (6), p.792-800

2014

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Pre-conceptional Vitamin/Folic Acid Supplementation 2007: The Use of Folic Acid in Combination With a Multivitamin Supplement for the Prevention of Neural Tube Defects and Other Congenital Anomalies

Journal of obstetrics and gynaecology Canada, 2007-12, Vol.29 (12), p.1003-1013

2007

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Facteurs génétiques à prendre en considération dans le cadre de l’examen gynécologique annuel

Journal of obstetrics and gynaecology Canada, 2016-12, Vol.38 (12), p.S22-S33

2016

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Committee Opinion No. 406: Prenatal Testing After IVF With Preimplantation Genetic Testing for Aneuploidy

Journal of obstetrics and gynaecology Canada, 2020-11, Vol.42 (11), p.1437-1443.e1

2020

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Prenatal Screening for Fetal Aneuploidy in Singleton Pregnancies

Journal of obstetrics and gynaecology Canada, 2011-07, Vol.33 (7), p.736-750

2011

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Opinion de comité no 406 : Dépistage prénatal après FIV avec test génétique préimplantatoire des aneuploïdies

Journal of obstetrics and gynaecology Canada, 2020-11, Vol.42 (11), p.1444-1451.e1

2020

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Opinion de comité n o 406 : Dépistage prénatal après FIV avec test génétique préimplantatoire des aneuploïdies

Journal of obstetrics and gynaecology Canada, 2020-11, Vol.42 (11), p.1444

2020

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Opinion de comité no 406 : Dépistage prénatal après FIV avec test génétique préimplantatoire des aneuploïdies

Journal of obstetrics and gynaecology Canada, 2020-11, Vol.42 (11), p.1444-1451.e1

2020

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The practice of genomic medicine: A delineation of the process and its governing principles

Frontiers in medicine, 2023-01, Vol.9, p.1071348-1071348

2023

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Current controversies in prenatal diagnosis: Expanded NIPT that includes conditions other than trisomies 13, 18, and 21 should be offered

Prenatal diagnosis, 2021-09, Vol.41 (10), p.1316-1323

2021

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Correspondence on “The prevalence of genetic diagnoses in fetuses with severe congenital heart defects” by Nisselrooij et al

A distinct neurodevelopmental syndrome with intellectual disability, autism spectrum disorder, characteristic facies, and macrocephaly is caused by defects in CHD8

Etiologies and outcomes of prenatally diagnosed hyperechogenic kidneys

De novo dominant variants affecting the motor domain of KIF1A are a cause of PEHO syndrome

Clinical response to dabrafenib and chemotherapy in clonally-related histiocytosis and acute lymphoblastic leukemia

Expansion of non-invasive prenatal screening to the screening of 10 types of chromosomal anomalies: a cost-effectiveness analysis

Implementation of the BC Congenital Anomalies Surveillance System (BCCASS)

Comprehensive whole genome sequence analyses yields novel genetic and structural insights for Intellectual Disability

Mutations in origin recognition complex gene ORC4 cause Meier-Gorlin syndrome

P537: Evaluating parental empowerment and satisfaction in neonatal intensive care units for families experiencing genetic testing: A mixed-methods study

Current Status in Non-Invasive Prenatal Detection of Down Syndrome, Trisomy 18, and Trisomy 13 Using Cell-Free DNA in Maternal Plasma

Non‐invasive prenatal testing for the prenatal screening of sex chromosome aneuploidies: A systematic review and meta‐analysis of diagnostic test accuracy studies

Prenatal screening and diagnosis of sex chromosome conditions: The new normal?

Obstetrical Complications Associated With Abnormal Maternal Serum Markers Analytes

Prediction of obstetrical risk using maternal serum markers and clinical risk factors

Single exon-resolution targeted chromosomal microarray analysis of known and candidate intellectual disability genes

Pre-conceptional Vitamin/Folic Acid Supplementation 2007: The Use of Folic Acid in Combination With a Multivitamin Supplement for the Prevention of Neural Tube Defects and Other Congenital Anomalies

Facteurs génétiques à prendre en considération dans le cadre de l’examen gynécologique annuel

Committee Opinion No. 406: Prenatal Testing After IVF With Preimplantation Genetic Testing for Aneuploidy

Prenatal Screening for Fetal Aneuploidy in Singleton Pregnancies

Opinion de comité no 406 : Dépistage prénatal après FIV avec test génétique préimplantatoire des aneuploïdies

Opinion de comité n o 406 : Dépistage prénatal après FIV avec test génétique préimplantatoire des aneuploïdies

Opinion de comité no 406 : Dépistage prénatal après FIV avec test génétique préimplantatoire des aneuploïdies

The practice of genomic medicine: A delineation of the process and its governing principles

Current controversies in prenatal diagnosis: Expanded NIPT that includes conditions other than trisomies 13, 18, and 21 should be offered

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