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Prenatal diagnosis of chronic intestinal pseudo‐obstruction and paternal somatic mosaicism for the ACTG2 pathogenic variant

Prenatal diagnosis, 2017-12, Vol.37 (12), p.1254-1256

2017

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Role of comprehensive cytogenomic investigation in successful reproductive outcome of parental small neocentromeric supernumerary ring chromosome: A case report

Clinical case reports, 2023-04, Vol.11 (4), p.e6632-n/a

2023

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Prenatal Genetic Testing in the Era of Next Generation Sequencing: A One-Center Canadian Experience

Genes, 2022-11, Vol.13 (11), p.2019

2022

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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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Burosumab for the treatment of cutaneous-skeletal hypophosphatemia syndrome

Bone Reports, 2024-03, Vol.20, p.101725, Article 101725

2024

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From “ACAN” to “I CAN”: Restoring wellness in a boy with severe osteochondritis dissecans through diagnostic precision combined with optimal medical, surgical and rehabilitation management

Bone Reports, 2023-06, Vol.18, p.101663, Article 101663

2023

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Prenatal Array Comparative Genomic Hybridization in Fetuses With Structural Cardiac Anomalies

Journal of obstetrics and gynaecology Canada, 2016-07, Vol.38 (7), p.619-626

2016

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MG-128 Use of prenatal array comparative genomic hybridization in cases of fetal structural cardiac anomalies: New cases and review of the literature

Journal of medical genetics, 2015-11, Vol.52 (Suppl 1), p.A7-A8

2015

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Maternal uniparental disomy for chromosome 6 in a patient with IUGR, ambiguous genitalia, and persistent mullerian structures

American journal of medical genetics. Part A, 2016-12, Vol.170A (12), p.3227-3230

2016

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Next generation of free? Points to consider when navigating sponsored genetic testing

Journal of medical genetics, 2024-03, Vol.61 (4), p.299-304

2024

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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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Mutations in SLC34A3/NPT2c are associated with kidney stones and nephrocalcinosis

Journal of the American Society of Nephrology, 2014-10, Vol.25 (10), p.2366-2375

2014

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Delineating the expanding phenotype of HERC2‐related disorders: The impact of biallelic loss of function versus missense variation

Clinical genetics, 2021-11, Vol.100 (5), p.637-640

2021

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Prenatal diagnosis of chronic intestinal pseudo‐obstruction and paternal somatic mosaicism for the ACTG 2 pathogenic variant

Prenatal diagnosis, 2017-12, Vol.37 (12), p.1254-1256

2017

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Evaluation of the diagnostic accuracy of exome sequencing and its impact on diagnostic thinking for patients with rare disease in a publicly funded health care system: A prospective cohort study

Genetics in medicine, 2024-02, Vol.26 (2), p.101012, Article 101012

2024

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Outcome of infants with elevated C5OH acylcarnitine: Seven years of newborn screening follow-up at the Calgary Metabolic Clinic

Clinical biochemistry, 2014-10, Vol.47 (15), p.148-148

2014

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Bridging clinical care and research in Ontario, Canada: Maximizing diagnoses from reanalysis of clinical exome sequencing data

Clinical genetics, 2023-03, Vol.103 (3), p.288-300

2023

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Choosing Wisely Canada: The Canadian College of Medical Geneticists’ (CCMG) list of five items physicians and patients should question

Journal of medical genetics, 2018-02, Vol.55 (2), p.86-88

2018

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A splice variant in ATAD3A expands the clinical and genetic spectrum of Harel-Yoon syndrome

Neurology. Genetics, 2020-08, Vol.6 (4), p.e452-e452

2020

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A 2q24.3q31.1 microdeletion found in a patient with Filippi-like syndrome phenotype: A case report

American journal of medical genetics. Part A, 2014-09, Vol.164A (9), p.2385-2387

2014

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Next-Generation Sequencing Using a Cardiac Gene Panel in Prenatally Diagnosed Cardiac Anomalies

Journal of obstetrics and gynaecology Canada, 2018-11, Vol.40 (11), p.1417-1423

2018

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Bilateral congenital lumbar hernias in a patient with central core disease – A case report

Neuromuscular disorders : NMD, 2016-01, Vol.26 (1), p.56-59

2016

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Role of comprehensive cytogenomic investigation in successful reproductive outcome of parental small neocentromeric supernumerary ring chromosome: A case report

Clinical case reports, 2023, Vol.11 (4), p.e6632-e6632

2023

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Burosumab for the treatment of cutaneous-skeletal hypophosphatemia syndrome

Bone reports, 2024, Vol.20, p.101725-101725

2024

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Prenatal diagnosis of chronic intestinal pseudo‐obstruction and paternal somatic mosaicism for the ACTG2 pathogenic variant

Role of comprehensive cytogenomic investigation in successful reproductive outcome of parental small neocentromeric supernumerary ring chromosome: A case report

Prenatal Genetic Testing in the Era of Next Generation Sequencing: A One-Center Canadian Experience

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

Burosumab for the treatment of cutaneous-skeletal hypophosphatemia syndrome

From “ACAN” to “I CAN”: Restoring wellness in a boy with severe osteochondritis dissecans through diagnostic precision combined with optimal medical, surgical and rehabilitation management

Prenatal Array Comparative Genomic Hybridization in Fetuses With Structural Cardiac Anomalies

MG-128 Use of prenatal array comparative genomic hybridization in cases of fetal structural cardiac anomalies: New cases and review of the literature

Maternal uniparental disomy for chromosome 6 in a patient with IUGR, ambiguous genitalia, and persistent mullerian structures

Next generation of free? Points to consider when navigating sponsored genetic testing

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

Mutations in SLC34A3/NPT2c are associated with kidney stones and nephrocalcinosis

Delineating the expanding phenotype of HERC2‐related disorders: The impact of biallelic loss of function versus missense variation

Prenatal diagnosis of chronic intestinal pseudo‐obstruction and paternal somatic mosaicism for the ACTG 2 pathogenic variant

Evaluation of the diagnostic accuracy of exome sequencing and its impact on diagnostic thinking for patients with rare disease in a publicly funded health care system: A prospective cohort study

Outcome of infants with elevated C5OH acylcarnitine: Seven years of newborn screening follow-up at the Calgary Metabolic Clinic

Bridging clinical care and research in Ontario, Canada: Maximizing diagnoses from reanalysis of clinical exome sequencing data

Expanding the phenotypic spectrum of ARCN1-related syndrome

Choosing Wisely Canada: The Canadian College of Medical Geneticists’ (CCMG) list of five items physicians and patients should question

A splice variant in ATAD3A expands the clinical and genetic spectrum of Harel-Yoon syndrome

A 2q24.3q31.1 microdeletion found in a patient with Filippi-like syndrome phenotype: A case report

Next-Generation Sequencing Using a Cardiac Gene Panel in Prenatally Diagnosed Cardiac Anomalies

Bilateral congenital lumbar hernias in a patient with central core disease – A case report

Role of comprehensive cytogenomic investigation in successful reproductive outcome of parental small neocentromeric supernumerary ring chromosome: A case report

Burosumab for the treatment of cutaneous-skeletal hypophosphatemia syndrome

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