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The SickKids Genome Clinic: developing and evaluating a pediatric model for individualized genomic medicine

Clinical genetics, 2016-01, Vol.89 (1), p.10-19

2016

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Beckwith-Wiedemann syndrome and assisted reproduction technology (ART)

Journal of medical genetics, 2003-01, Vol.40 (1), p.62-64

2003

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Clinical and molecular genetic features of Beckwith–Wiedemann syndrome associated with assisted reproductive technologies

Human reproduction (Oxford), 2009-03, Vol.24 (3), p.741-747

2009

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Molecular subtypes and phenotypic expression of Beckwith-Wiedemann syndrome

European journal of human genetics : EJHG, 2005-09, Vol.13 (9), p.1025-1032

2005

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The clinical utility of next-generation sequencing in the neonatal intensive care unit

Canadian Medical Association journal (CMAJ), 2016-08, Vol.188 (11), p.786

Bowdin, Sarah C

2016

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The Expanding Clinical Spectrum of Extracardiovascular and Cardiovascular Manifestations of Heritable Thoracic Aortic Aneurysm and Dissection

Canadian journal of cardiology, 2016, Vol.32 (1), p.86-99

2016

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Clinical genetic testing in pediatric cardiomyopathy: Is bigger better?

Clinical genetics, 2018-01, Vol.93 (1), p.33-40

2018

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Assisted reproductive therapies and imprinting disorders—a preliminary British survey

Human reproduction (Oxford), 2006-04, Vol.21 (4), p.1009-1011

2006

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Reappraisal of Reported Genes for Sudden Arrhythmic Death: Evidence-Based Evaluation of Gene Validity for Brugada Syndrome

Circulation (New York, N.Y.), 2018-09, Vol.138 (12), p.1195-1205

2018

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Multidisciplinary Aortopathy Clinics Should Now Be the Standard of Care in Canada

Canadian journal of cardiology, 2016-01, Vol.32 (1), p.8-12

2016

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Parents perspectives on whole genome sequencing for their children: qualified enthusiasm?

Journal of medical ethics, 2017-08, Vol.43 (8), p.535

2017

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Loeys-Dietz syndrome: a primer for diagnosis and management

Genetics in medicine, 2014-08, Vol.16 (8), p.576-587

2014

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Genetic Testing in Thoracic Aortic Disease—When, Why, and How?

Canadian journal of cardiology, 2016, Vol.32 (1), p.131-134

2016

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Predictive genetic testing for adult-onset disorders in minors: a critical analysis of the arguments for and against the 2013 ACMG guidelines

Clinical genetics, 2015-04, Vol.87 (4), p.301-310

2015

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Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP

Biological psychiatry (1969), 2019-02, Vol.85 (4), p.287-297

2019

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Recommendations for the integration of genomics into clinical practice

Genetics in medicine, 2016-11, Vol.18 (11), p.1075-1084

2016

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Views from the clinic: Healthcare provider perspectives on whole genome sequencing in paediatrics

European journal of medical genetics, 2019-05, Vol.62 (5), p.350-356

2019

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FGFR-associated craniosynostosis syndromes and gastrointestinal defects

American journal of medical genetics. Part A, 2016-12, Vol.170A (12), p.3215-3221

2016

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A deletion of FGFR2 creating a chimeric IIIb/IIIc exon in a child with Apert syndrome

BMC medical genetics, 2011-09, Vol.12 (1), p.122-122, Article 122

2011

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A call for global action for rare diseases in Africa

Nature genetics, 2020-01, Vol.52 (1), p.21-26

2020

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Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delays

European journal of human genetics : EJHG, 2023-10, Vol.31 (10), p.1117-1124

2023

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Exome sequencing identifies rare variants in multiple genes in atrioventricular septal defect

Genetics in medicine, 2016-02, Vol.18 (2), p.189-198

2016

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MKS1 regulates ciliary INPP5E levels in Joubert syndrome

Journal of medical genetics, 2016-01, Vol.53 (1), p.62-72

2016

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Pregnancy and perinatal outcomes after assisted reproduction: a comparative study

Irish journal of medical science, 2008-09, Vol.177 (3), p.233-241

2008

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Phenotype and genotype in Nicolaides-Baraitser syndrome

American journal of medical genetics. Part C, Seminars in medical genetics, 2014-09, Vol.166C (3), p.302-314

2014

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The SickKids Genome Clinic: developing and evaluating a pediatric model for individualized genomic medicine

Beckwith-Wiedemann syndrome and assisted reproduction technology (ART)

Clinical and molecular genetic features of Beckwith–Wiedemann syndrome associated with assisted reproductive technologies

Molecular subtypes and phenotypic expression of Beckwith-Wiedemann syndrome

The clinical utility of next-generation sequencing in the neonatal intensive care unit

The Expanding Clinical Spectrum of Extracardiovascular and Cardiovascular Manifestations of Heritable Thoracic Aortic Aneurysm and Dissection

Clinical genetic testing in pediatric cardiomyopathy: Is bigger better?

Assisted reproductive therapies and imprinting disorders—a preliminary British survey

Reappraisal of Reported Genes for Sudden Arrhythmic Death: Evidence-Based Evaluation of Gene Validity for Brugada Syndrome

Multidisciplinary Aortopathy Clinics Should Now Be the Standard of Care in Canada

Parents perspectives on whole genome sequencing for their children: qualified enthusiasm?

Loeys-Dietz syndrome: a primer for diagnosis and management

Genetic Testing in Thoracic Aortic Disease—When, Why, and How?

Predictive genetic testing for adult-onset disorders in minors: a critical analysis of the arguments for and against the 2013 ACMG guidelines

Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP

Recommendations for the integration of genomics into clinical practice

Views from the clinic: Healthcare provider perspectives on whole genome sequencing in paediatrics

FGFR-associated craniosynostosis syndromes and gastrointestinal defects

A deletion of FGFR2 creating a chimeric IIIb/IIIc exon in a child with Apert syndrome

A call for global action for rare diseases in Africa

Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delays

Exome sequencing identifies rare variants in multiple genes in atrioventricular septal defect

MKS1 regulates ciliary INPP5E levels in Joubert syndrome

Pregnancy and perinatal outcomes after assisted reproduction: a comparative study

Phenotype and genotype in Nicolaides-Baraitser syndrome

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