List of works - Laura Arbour

A KCNQ1 V205M missense mutation causes a high rate of long QT syndrome in a First Nations community of northern British Columbia: a community-based approach to understanding the impact

scientific article published on 01 July 2008

Air pollution, neighbourhood and maternal-level factors modify the effect of smoking on birth weight: a multilevel analysis in British Columbia, Canada

scientific article

An Autosomal Dominant Form of Familial Persistent Hyperinsulinemic Hypoglycemia of Infancy, Not Linked to the Sulfonylurea Receptor Locus1

scientific article published on 01 April 1997

Association Between Preeclampsia and Congenital Heart Defects

scientific article published on October 2015

Association of non-syndromic macrocephaly with autism.

scientific article published in December 2001

Autoimmune liver disease and the Canadian First Nations Aboriginal Communities of British Columbia's Pacific Northwest.

scientific article

Canadian Alliance for Healthy Hearts and Minds: First Nations Cohort Study Rationale and Design.

scientific article published in January 2018

Cardiac arrest in a mother and daughter and the identification of a novel RYR2 variant, predisposing to low penetrant catecholaminergic polymorphic ventricular tachycardia in a four-generation Canadian family

scientific article published on 28 January 2020

Carnitine palmitoyltransferase 1A (CPT1A) P479L prevalence in live newborns in Yukon, Northwest Territories, and Nunavut

scientific article

Carnitine palmitoyltransferase I and sudden unexpected infant death in British Columbia First Nations

scientific article published on 22 October 2012

Causes and risk factors for infant mortality in Nunavut, Canada 1999-2011

scientific article

Characteristics of primary biliary cirrhosis in British Columbia's First Nations population

scientific article

Characterization of a new X-linked mental retardation syndrome with microcephaly, cortical malformation, and thin habitus

article

Confirmation of FWT1 as a Wilms' tumour susceptibility gene and phenotypic characteristics of Wilms' tumour attributable to FWT1

scientific article (publication date: November 1998)

Congenital anomalies in the offspring of nurses: association with area of employment during pregnancy

scientific article published in July 2011

Congenital microcephaly in Quebec: baseline prevalence, risk factors and outcomes in a large cohort of neonates.

scientific article published on 04 July 2017

Cost Analysis of Patients Referred for Inherited Heart Rhythm Disorder Evaluation.

scientific article published on 20 December 2016

DNA on loan: issues to consider when carrying out genetic research with aboriginal families and communities

scientific article

Detection of pathogenic copy number variants in children with idiopathic intellectual disability using 500 K SNP array genomic hybridization

scientific article

Discordant Measures of Androgen-Binding Kinetics in Two Mutant Androgen Receptors Causing Mild or Partial Androgen Insensitivity, Respectively1

Elevated ambient temperatures and risk of neural tube defects.

scientific article published on 22 November 2016

Evidence for a familial Wilms' tumour gene (FWT1) on chromosome 17q12–q21

scientific article (publication date: August 1996)

Exome sequencing identified a de novo mutation of PURA gene in a patient with familial Xp22.31 microduplication

article

Genetic Testing in the Evaluation of Unexplained Cardiac Arrest: From the CASPER (Cardiac Arrest Survivors With Preserved Ejection Fraction Registry).

scientific article published in June 2017

Glutathione deficiency as a complication of methylmalonic acidemia: Response to high doses of ascorbate

scientific article published on 01 September 1996

Heart defects and other malformations in the Inuit in Canada: a baseline study

scientific article

Heavy smoking during pregnancy as a marker for other risk factors of adverse birth outcomes: a population-based study in British Columbia, Canada

scientific article

Hereditary angioedema managed with low-dose danazol and C1 esterase inhibitor concentrate: a case report

scientific article published in January 2006

Human exposure to environmental contaminants and congenital anomalies: a critical review

scientific article

Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome

scientific article

Indications for Liver Tranplantation in British Columbia’s Aboriginal Population: A 10-Year Retrospective Analysis

scientific article published on 01 October 2000

Inherited heart rhythm disease: negotiating the minefield for the practicing cardiologist

scientific article published on January 2013

Inherited heart rhythm disorders: Diagnostic dilemmas after the sudden death of a young family member

Intrauterine exposure to clomiphene and neonatal persistent hyperplastic primary vitreous

scientific article published on 01 September 1999

KCNQ1 p.L353L affects splicing and modifies the phenotype in a founder population with long QT syndrome type 1.

scientific article

Life-history chronicle for a patient with the recently described chromosome 4q21 microdeletion syndrome

article by Erica Tsang et al published 17 August 2012 in American Journal of Medical Genetics

Long QT syndrome.

scientific article published on 11 April 2011

Maternal risk factors for gastroschisis in Canada

scientific article published on 12 February 2015

Multifactorial inheritance of non-syndromic macrocephaly

Mutations in the gene encoding capillary morphogenesis protein 2 cause juvenile hyaline fibromatosis and infantile systemic hyalinosis

scientific article

Novel Variant in the ANK2 Membrane-Binding Domain Is Associated With Ankyrin-B Syndrome and Structural Heart Disease in a First Nations Population With a High Rate of Long QT Syndrome

scientific article published in January 2017

Oligonucleotide microarray analysis of genomic imbalance in children with mental retardation

scientific article

Patient Recall, Interpretation, and Perspective of an Inconclusive Long QT Syndrome Genetic Test Result

scientific article published on 2 July 2016

Penetrance of Mutations in the Familial Wilms Tumor Gene FWT1

article

Pre-eclampsia and risk of infantile haemangioma

scientific article

Pregnancy outcomes of women with spina bifida

scientific article published on 12 January 2018

Prenatal diagnosis of apparently isolated unilateral multicystic kidney: implications for counselling and management

scientific article published on 01 May 2002

Primary Biliary Cholangitis in British Columbia First Nations: Clinical features and discovery of novel genetic susceptibility loci

scientific article published on 3 January 2018

Race and ancestry in biomedical research: exploring the challenges

scientific article

Recognizing life-threatening causes of syncope

scientific article published in February 2013

Red blood cell folate levels in Canadian Inuit women of childbearing years: influence of food security, body mass index, smoking, education, and vitamin use

article

Retrospective review of pediatric and adult autoimmune hepatitis in two quaternary care centres in British Columbia: increased prevalence seen in British Columbia's First Nations community

scientific article published on September 2007

Risk of central nervous system defects in offspring of women with and without mental illness

scientific article published on 22 February 2018

Sex Differences and Utility of Treadmill Testing in Long‐QT Syndrome

scientific article published in 2022

Spatial variability of gastroschisis in Canada, 2006-2011: An exploratory analysis.

scientific article published on 27 June 2016

Spina bifida, folate metabolism, and dietary folate intake in a Northern Canadian aboriginal population

scientific article

Submicroscopic deletions and duplications in individuals with intellectual disability detected by array-CGH

Submicroscopic deletions of 11q24-25 in individuals without Jacobsen syndrome: re-examination of the critical region by high-resolution array-CGH

scientific article

The Canadian Arrhythmogenic Right Ventricular Cardiomyopathy Registry: Rationale, Design, and Preliminary Recruitment

scientific article published on 21 April 2016

The Genetics of Cardiovascular Disease in Canadian and International Aboriginal Populations

scientific article published on 11 July 2015

The current state of birth outcome and birth defect surveillance in northern regions of the world

scientific article published on December 2009

The development of a comprehensive maternal-child health information system for Nunavut-Nutaqqavut (Our Children).

scientific article published on 5 September 2011

The familial Wilms' tumour susceptibility gene, FWT1, may not be a tumour suppressor gene

article

The gene for juvenile hyaline fibromatosis maps to chromosome 4q21

scientific article

The mystery of primary biliary cirrhosis in British Columbia’s First Nations people

scientific article published on 01 January 2004

The reduction of birth weight by fine particulate matter and its modification by maternal and neighbourhood-level factors: a multilevel analysis in British Columbia, Canada

scientific article published on 14 April 2016

The shared pathoetiological effects of particulate air pollution and the social environment on fetal-placental development

scientific article

Understanding the personal and community impact of long QT syndrome: A perspective from Gitxsan women

scientific article published on 24 April 2020

Variable onset of metachromatic leukodystrophy in a Vietnamese family

scientific article published on 01 August 2000

List of works by Laura Arbour

A KCNQ1 V205M missense mutation causes a high rate of long QT syndrome in a First Nations community of northern British Columbia: a community-based approach to understanding the impact

Air pollution, neighbourhood and maternal-level factors modify the effect of smoking on birth weight: a multilevel analysis in British Columbia, Canada

An Autosomal Dominant Form of Familial Persistent Hyperinsulinemic Hypoglycemia of Infancy, Not Linked to the Sulfonylurea Receptor Locus1

Association Between Preeclampsia and Congenital Heart Defects

Association of non-syndromic macrocephaly with autism.

Autoimmune liver disease and the Canadian First Nations Aboriginal Communities of British Columbia's Pacific Northwest.

Canadian Alliance for Healthy Hearts and Minds: First Nations Cohort Study Rationale and Design.

Cardiac arrest in a mother and daughter and the identification of a novel RYR2 variant, predisposing to low penetrant catecholaminergic polymorphic ventricular tachycardia in a four-generation Canadian family

Carnitine palmitoyltransferase 1A (CPT1A) P479L prevalence in live newborns in Yukon, Northwest Territories, and Nunavut

Carnitine palmitoyltransferase I and sudden unexpected infant death in British Columbia First Nations

Causes and risk factors for infant mortality in Nunavut, Canada 1999-2011

Characteristics of primary biliary cirrhosis in British Columbia's First Nations population

Characterization of a new X-linked mental retardation syndrome with microcephaly, cortical malformation, and thin habitus

Confirmation of FWT1 as a Wilms' tumour susceptibility gene and phenotypic characteristics of Wilms' tumour attributable to FWT1

Congenital anomalies in the offspring of nurses: association with area of employment during pregnancy

Congenital microcephaly in Quebec: baseline prevalence, risk factors and outcomes in a large cohort of neonates.

Cost Analysis of Patients Referred for Inherited Heart Rhythm Disorder Evaluation.

DNA on loan: issues to consider when carrying out genetic research with aboriginal families and communities

Detection of pathogenic copy number variants in children with idiopathic intellectual disability using 500 K SNP array genomic hybridization

Discordant Measures of Androgen-Binding Kinetics in Two Mutant Androgen Receptors Causing Mild or Partial Androgen Insensitivity, Respectively1

Elevated ambient temperatures and risk of neural tube defects.

Evidence for a familial Wilms' tumour gene (FWT1) on chromosome 17q12–q21

Exome sequencing identified a de novo mutation of PURA gene in a patient with familial Xp22.31 microduplication

Genetic Testing in the Evaluation of Unexplained Cardiac Arrest: From the CASPER (Cardiac Arrest Survivors With Preserved Ejection Fraction Registry).

Glutathione deficiency as a complication of methylmalonic acidemia: Response to high doses of ascorbate

Heart defects and other malformations in the Inuit in Canada: a baseline study

Heavy smoking during pregnancy as a marker for other risk factors of adverse birth outcomes: a population-based study in British Columbia, Canada

Hereditary angioedema managed with low-dose danazol and C1 esterase inhibitor concentrate: a case report

Human exposure to environmental contaminants and congenital anomalies: a critical review

Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome

Indications for Liver Tranplantation in British Columbia’s Aboriginal Population: A 10-Year Retrospective Analysis

Inherited heart rhythm disease: negotiating the minefield for the practicing cardiologist

Inherited heart rhythm disorders: Diagnostic dilemmas after the sudden death of a young family member

Intrauterine exposure to clomiphene and neonatal persistent hyperplastic primary vitreous

KCNQ1 p.L353L affects splicing and modifies the phenotype in a founder population with long QT syndrome type 1.

Life-history chronicle for a patient with the recently described chromosome 4q21 microdeletion syndrome

Long QT syndrome.

Maternal risk factors for gastroschisis in Canada

Multifactorial inheritance of non-syndromic macrocephaly

Mutations in the gene encoding capillary morphogenesis protein 2 cause juvenile hyaline fibromatosis and infantile systemic hyalinosis

Novel Variant in the ANK2 Membrane-Binding Domain Is Associated With Ankyrin-B Syndrome and Structural Heart Disease in a First Nations Population With a High Rate of Long QT Syndrome

Oligonucleotide microarray analysis of genomic imbalance in children with mental retardation

Patient Recall, Interpretation, and Perspective of an Inconclusive Long QT Syndrome Genetic Test Result

Penetrance of Mutations in the Familial Wilms Tumor Gene FWT1

Pre-eclampsia and risk of infantile haemangioma

Pregnancy outcomes of women with spina bifida

Prenatal diagnosis of apparently isolated unilateral multicystic kidney: implications for counselling and management

Primary Biliary Cholangitis in British Columbia First Nations: Clinical features and discovery of novel genetic susceptibility loci

Race and ancestry in biomedical research: exploring the challenges

Recognizing life-threatening causes of syncope

Red blood cell folate levels in Canadian Inuit women of childbearing years: influence of food security, body mass index, smoking, education, and vitamin use

Retrospective review of pediatric and adult autoimmune hepatitis in two quaternary care centres in British Columbia: increased prevalence seen in British Columbia's First Nations community

Risk of central nervous system defects in offspring of women with and without mental illness

Sex Differences and Utility of Treadmill Testing in Long‐QT Syndrome

Spatial variability of gastroschisis in Canada, 2006-2011: An exploratory analysis.

Spina bifida, folate metabolism, and dietary folate intake in a Northern Canadian aboriginal population

Submicroscopic deletions and duplications in individuals with intellectual disability detected by array-CGH

Submicroscopic deletions of 11q24-25 in individuals without Jacobsen syndrome: re-examination of the critical region by high-resolution array-CGH

The Canadian Arrhythmogenic Right Ventricular Cardiomyopathy Registry: Rationale, Design, and Preliminary Recruitment

The Genetics of Cardiovascular Disease in Canadian and International Aboriginal Populations

The current state of birth outcome and birth defect surveillance in northern regions of the world

The development of a comprehensive maternal-child health information system for Nunavut-Nutaqqavut (Our Children).

The familial Wilms' tumour susceptibility gene, FWT1, may not be a tumour suppressor gene

The gene for juvenile hyaline fibromatosis maps to chromosome 4q21

The mystery of primary biliary cirrhosis in British Columbia’s First Nations people

The reduction of birth weight by fine particulate matter and its modification by maternal and neighbourhood-level factors: a multilevel analysis in British Columbia, Canada

The shared pathoetiological effects of particulate air pollution and the social environment on fetal-placental development

Understanding the personal and community impact of long QT syndrome: A perspective from Gitxsan women

Variable onset of metachromatic leukodystrophy in a Vietnamese family