Laura Arbour

MSc, MD

Investigator and Clinical Geneticist, BC Children's Hospital

Dr. Laura Arbour is a Professor in the Department of Medical Genetics situated at the UBC Island Medical Program in Victoria, BC. Her clinical practice and research focuses on Indigenous health issues as they pertain to genetics. Trained as both pediatrician and clinical geneticist, her research integrates maternal child health issues and the understanding of the genetic component of Indigenous health of all ages, such as congenital heart defects in the Inuit of Nunavut, Long QT Syndrome in Northern British Columbia, and the potential risk of CPT1A P479L for infant mortality in northern populations. Dr Arbour is also the project lead on a Genome Canada / CIHR funded grant, with co-leads Drs Nadine Caron and Wyeth Wasserman (of UBC), “Silent Genomes: Reducing health-care disparities and improving diagnostic success for indigenous children with genetic disease”. The project aims to address the challenges of equitable access to genetic / genomic diagnosis and care for Canadian Indigenous populations

Academic Affiliations

  • Professor, , Department of Medical Genetics, Faculty of Medicine, University of British Columbia
  • Research Theme: Childhood Diseases
  • Research Group(s): Rare Diseases

Contact Information

Location

3800 Finnerty Road, Rm 220, Victoria, BC, Canada, V8P 5C2

Case series of Type 1 Brugada pattern provoked by exercise: a role for diagnostic treadmill stress testing

European Heart Journal - Case Reports

Ojas H Mehta and Angela Ambrosio and Lindsay Burnell and Laura Arbour and Michael J Thibert and Andrew D Krahn and Richard Leather and Martin van Zyl and Fabian Barbieri and Silvia Castelletti and Georgios Kollias and Binaya Basyal and Deepti Ranganathan

DOI: 10.1093/ehjcr/ytaf640

01 / 2026

RSV and all-cause lower respiratory infection burden among infants in remote British Columbia: Retrospective population-based birth cohort study

Allison Watts and Marina Vieta Pramo and Taylor Jamieson-Datzkiw and Jeffrey N. Bone and Lana Lavoie and Laura Arbour and Alfonso Solimano and Manish Sadarangani and Hind Sbihi and David Goldfarb and Pascal M Lavoie

DOI: 10.64898/2026.01.09.26343745

01 / 2026

Early life nutrition in Nunavut, Canada: a retrospective descriptive study of food security, vitamin D and rickets

International Journal of Circumpolar Health

Amy Caughey and Sherilee L. Harper and Igah Sanguya and Jan M. Sargeant and Amber Miners and Michelle Doucette and Theresa Koonoo and Hope Weiler and Jean Allen and Allison MacRury and Gwen Healey Akearok and Helle Moller and Breanne Aylward and Jimena Gonzalez Lema and Laura Arbour

DOI: 10.1080/22423982.2025.2580100

12 / 2025

Canadian Cardiovascular Society Clinical Practice Update on Cardiogenetic Testing

Canadian Journal of Cardiology

Melanie Care and Laura Arbour and Liam R. Brunham and Susan Christian and Johannie Gagnon and Robert A. Hegele and Rebekah Jobling and Gavin Y. Oudit and Thomas M. Roston and Laura Zahavich and Zachary Laksman

DOI: 10.1016/j.cjca.2025.08.364

12 / 2025

Safety, Utility, and Outcomes of Procainamide Challenge for the Diagnosis and Exclusion of Brugada Syndrome

Circulation

Benjamin M. Moore and Douglas Chan and Brianna Davies and Zachary W.M. Laksman and Jason D. Roberts and Shubhayan Sanatani and Christian Steinberg and Rafik Tadros and Julia Cadrin-Tourigny and Ciorsti MacIntyre and David Lee and Joseph Atallah and Anne Fournier and Martin S. Green and Habib R. Khan and Jacqueline Joza and Bhavanesh Makanjee and Erkan Ilhan and Simon Hansom and Alexio Hadjis and Colette Seifer and Paul Angaran and Christopher S. Simpson and Vijay S. Chauhan and Jeffrey S. Healey and Andrew D. Krahn

DOI: 10.1161/circulationaha.125.076011

12 / 2025

The cost and cost trajectory of genome sequencing and bioinformatics analysis for Indigenous children with suspected rare diseases

Genetics in Medicine

Morgan Ehman and Kartik Sharma and Deirdre Weymann and Tatiana Maroilley and Arezoo Mohajeri and Anna Lehman and Maja Tarailo-Graovac and Steven J.M. Jones and Marco A. Marra and Wyeth W. Wasserman and Nadine R. Caron and Laura Arbour and Dean A. Regier

DOI: 10.1016/j.gim.2025.101568

11 / 2025

Biallelic variants in BBOX1 cause L-Carnitine deficiency and elevated -butyrobetaine

npj Genomic Medicine

Xiao Li and Mehdi Yeganeh and Graham Sinclair and Jill Mwenifumbo and Karen J. Jacob and Laura Arbour and Anna Lehman and Bojana Rakic and Frdric M. Vaz and Gabriella Horvath and Maja Tarailo-Graovac and Sylvia Stockler-Ipsiroglu

DOI: 10.1038/s41525-025-00523-2

09 / 2025

Inclusive research: a path to equity and better outcomes

BMJ

Sonia S Anand and Laura Arbour and Gina S Ogilvie and Alan T N Tita

DOI: 10.1136/bmj-2024-082486

03 / 2025

Hospital admissions for acute respiratory tract infections among infants from Nunavut and the burden of respiratory syncytial virus: a 10-year retrospective cohort study

The Lancet Regional Health - Americas

Mai-Lei Woo Kinshella and Jean Allen and Jasmine Pawa and Jesse Papenburg and Radha Jetty and Rachel Dwilow and Joanne Embree and Joan Robinson and Laura Arbour and Manish Sadarangani and Ye Shen and Jeffrey N. Bone and Celia Walker and Iryna Kayda and Holden Sheffield and Darcy Scott and Amber Miners and David M. Goldfarb

DOI: 10.1016/j.lana.2025.101021

03 / 2025

Genetic data from Indigenous Greenlanders could help to narrow health-care gap

Nature

Laura Arbour

DOI: 10.1038/d41586-025-00091-6

03 / 2025

The multigenerational impact of long QT syndrome: A Gitxsan perspective

Journal of Genetic Counseling

Lee-Anna Huisman and Sheridan Martin and Emma Ewasiuk and Alexa McAdam and Ksana Wood Lynes-Ford and Rod McCormick and Laura Arbour

DOI: 10.1002/jgc4.1927

02 / 2025

Quantification of morphological, functional, and biochemical features of H9c2 rat cardiomyoblast retinoic acid differentiation

Nicole S. York and Joel E. Rivera and Mohammadreza Rahmani Manesh and Ksana Wood Lynes-Ford and Rory Smith and Leigh E. Wicki-Stordeur and Laura T. Arbour and Leigh Anne Swayne

DOI: 10.1101/2024.12.10.627787

12 / 2024

Head circumference values among Inuit children in Nunavut, Canada: a retrospective cohort study

Canadian Medical Association Journal

Kristina May Joyal and Sorcha Collins and Amber Miners and Nick Barrowman and Ewa Sucha and Jean Allen and Sharon Edmunds and Amy Caughey and Michelle Doucette and Selina Khatun and Gwen Healey Akearok and Laura Arbour and Sunita Venkateswaran

DOI: 10.1503/cmaj.230905

10 / 2024

Canadian Cardiovascular Society Clinical Practice Update on Contemporary Management of the Patient With Hypertrophic Cardiomyopathy

Canadian Journal of Cardiology

Andrew M. Crean and Arnon Adler and Laura Arbour and Joyce Chan and Susan Christian and Robert M. Cooper and Patrick Garceau and Genevieve Giraldeau and Bobak Heydari and Zachary Laksman and Seema Mital and Kevin Ong and Christopher Overgaard and Marc Ruel and Colette M. Seifer and Michael R. Ward and Rafik Tadros

DOI: 10.1016/j.cjca.2024.06.007

09 / 2024

High-Risk Nonclassical Long-QT Syndrome Genotypes: Spectrum of Genetic and Phenotypic Features

Circulation: Genomic and Precision Medicine

Abdulkarim Abdulrahman and Brianna Davies and Habib Khan and Shubhayan Sanatani and Rafik Tadros and Mario Talajic and Julia Cadrin-Tourigny and Joseph Atallah and David Lee and Martin Gardner and Christian Steinberg and Simon Hansom and Martin Green and Anne Fournier and Laura Arbour and Richard Leather and Shane Kimber and Jason Roberts and Jeffrey Healey and Paul Angaran and Christopher Simpson and Colette Seifer and Erkan Ilhan and Jacqueline Joza and Andrew Krahn and Zachary Laksman

DOI: 10.1161/circgen.124.004554

08 / 2024

Maternal Deaths by Suicide and Drug Overdose in Two Canadian Provinces; Retrospective Review

Journal of Obstetrics and Gynaecology Canada

Kayvan Aflaki and Joel G. Ray and Wesley Edwards and Heather Scott and Laura Arbour and Elizabeth K. Darling and Aideen Moore and Susie Dzakpasu

DOI: 10.1016/j.jogc.2024.102581

08 / 2024

Congenital anomalies during Covid-19: artifact of surveillance or a real TORCH?

European Journal of Epidemiology

Nathalie Auger and Laura Arbour and Antoine Lewin and milie Brousseau and Jessica Healy-Profits and Thuy Mai Luu

DOI: 10.1007/s10654-024-01122-8

06 / 2024

Risk of congenital anomalies in children who have a sibling with cancer: A matched cohort study

Annals of Epidemiology

Nathalie Auger and milie Brousseau and Nahantara Lafleur and Laura Arbour

DOI: 10.1016/j.annepidem.2024.04.005

06 / 2024

A mild phenotype associated with KCNQ1 p.V205M mediated long QT syndrome in First Nations children of Northern British Columbia: effect of additional variants and considerations for management

Frontiers in Pediatrics

Simona Bene Watts and Barbara Gauthier and Anders C. Erickson and Julie Morrison and Mavis Sebastian and Lawrence Gillman and Sarah McIntosh and Connie Ens and Elizabeth Sherwin and Rod McCormick and Shubhayan Sanatani and Laura Arbour

DOI: 10.3389/fped.2024.1394105

05 / 2024

Risk of birth defects in children of mothers with defects

Early Human Development

Nathalie Auger and Aimina Ayoub and Marianne Bilodeau-Bertrand and Laura Arbour

DOI: 10.1016/j.earlhumdev.2024.105995

05 / 2024

Advancing diagnosis and research for rare genetic diseases in Indigenous peoples

Nature Genetics

Gareth Baynam and Daria Julkowska and Sarah Bowdin and Azure Hermes and Christopher R. McMaster and Elissa Prichep and tienne Richer and Francois H. van der Westhuizen and Gabriela M. Repetto and Helen Malherbe and Juergen K. V. Reichardt and Laura Arbour and Maui Hudson and Kelly du Plessis and Melissa Haendel and Phillip Wilcox and Sally Ann Lynch and Shamir Rind and Simon Easteal and Xavier Estivill and Nadine Caron and Meck Chongo and Yarlalu Thomas and Mary Catherine V. Letinturier and Barend Christiaan Vorster

DOI: 10.1038/s41588-023-01642-1

02 / 2024

Association of maternal cancer with congenital anomalies in offspring

Paediatric and Perinatal Epidemiology

Nathalie Auger and Amanda Maniraho and Aimina Ayoub and Laura Arbour

DOI: 10.1111/ppe.13031

02 / 2024

The Inclusion of Underrepresented Populations in Cardiovascular Genetics and Epidemiology

Journal of Cardiovascular Development and Disease

Elias Chappell and Laura Arbour and Zachary Laksman

DOI: 10.3390/jcdd11020056

02 / 2024

The Impact of Chronic Disease on the Corrected QT (QTc) Value in Women in a British Columbia First Nations Population

Canadian Journal of Cardiology

Miles Marchand and Anders C. Erickson and Lawrence Gillman and Rachel Haywood and Julie Morrison and Denise Jaworsky and Olivier Drouin and Zachary Laksman and Andrew D. Krahn and Laura Arbour

DOI: 10.1016/j.cjca.2023.10.007

01 / 2024

The Prevalence and Characteristics of Arrhythmic Mitral Valve Prolapse in Patients With Unexplained Cardiac Arrest

JACC: Clinical Electrophysiology

Wael Alqarawi and Rafik Tadros and Jason D. Roberts and Christopher C. Cheung and Martin S. Green and Ian G. Burwash and Christian Steinberg and Jeffrey S. Healey and Habib Khan and Ciorsti McIntyre and Julia Cadrin-Touringy and Zachary W.M. Laksman and Christopher S. Simpson and Shubhayan Sanatani and Martin Gardner and Paul Angaran and Erkan Ilhan and Mario Talajic and Laura Arbour and Richard Leather and Colette Seifer and Jacqueline Joza and Felicity Lee and Lawrence Lau and Girish Nair and George Wells and Andrew D. Krahn

DOI: 10.1016/j.jacep.2023.08.017

12 / 2023

Hyaline Fibromatosis Syndrome

Shieh JTC and Hoyme HE and Arbour LT

PubMed: 20301698

05 / 2023

Identification and in-silico characterization of splice-site variants from a large cardiogenetic national registry

European Journal of Human Genetics

Kaveh Rayani and Brianna Davies and Matthew Cheung and Drake Comber and Jason D. Roberts and Rafik Tadros and Martin S. Green and Jeffrey S. Healey and Christopher S. Simpson and Shubhayan Sanatani and Christian Steinberg and Ciorsti MacIntyre and Paul Angaran and Henry Duff and Robert Hamilton and Laura Arbour and Richard Leather and Colette Seifer and Anne Fournier and Joseph Atallah and Shane Kimber and Bhavanesh Makanjee and Wael Alqarawi and Julia Cadrin-Tourigny and Jacqueline Joza and Martin Gardner and Mario Talajic and Richard D. Bagnall and Andrew D. Krahn and Zachary W. M. Laksman

DOI: 10.1038/s41431-022-01193-9

05 / 2023

Management of Inherited Arrhythmia Syndromes: A HiRO Consensus Handbook on Process of Care

CJC Open

Mikyla L. Janzen and Brianna Davies and Zachary W.M. Laksman and Jason D. Roberts and Shubhayan Sanatani and Christian Steinberg and Rafik Tadros and Julia Cadrin-Tourigny and Ciorsti MacIntyre and Joseph Atallah and Anne Fournier and Martin S. Green and Robert Hamilton and Habib R. Khan and Shane Kimber and Steven White and Jacqueline Joza and Bhavanesh Makanjee and Erkan Ilhan and David Lee and Simon Hansom and Alexios Hadjis and Laura Arbour and Richard Leather and Colette Seifer and Paul Angaran and Christopher S. Simpson and Jeffrey S. Healey and Martin Gardner and Mario Talajic and Andrew D. Krahn

DOI: 10.1016/j.cjco.2023.02.006

04 / 2023

Validation of case definition algorithms for the ascertainment of congenital anomalies

Birth Defects Research

Yonabeth Nava de Escalante and Aanu Abayomi and Sylvie Langlois and Xibiao Ye and Anders Erickson and Henry Ngo and Rosemary Armour and Reiko Okamoto and Laura Arbour and Tanya Bedard and Kenny Der and Margot Van Allen and Erik Skarsgard and Martin Lavoie and Bonnie Henry

DOI: 10.1002/bdr2.2112

02 / 2023

Extended Risk of Mortality in Children with Inborn Errors of Metabolism: ALongitudinal Cohort Study

The Journal of Pediatrics

Nathalie Auger and Chantal Nelson and milie Brousseau and Marianne Bilodeau-Bertrand and Ron Dewar and Laura Arbour

DOI: 10.1016/j.jpeds.2022.08.053

01 / 2023

Rare disorders have many faces: in silico characterization of rare disorder spectrum

Orphanet Journal of Rare Diseases

Simona D. Frederiksen and Vladimir Avramovic and Tatiana Maroilley and Anna Lehman and Laura Arbour and Maja Tarailo-Graovac

DOI: 10.1186/s13023-022-02217-9

12 / 2022

A Call to Action: Optimizing Indigenous Cardiovascular Health in Canada

Canadian Journal of Cardiology

Haya Aziz and Miles Marchand and Cristina Pop and Alexandra King and Sonia S. Anand and Laura Arbour and Clare Atzema and Marco Spaziano and Nicolas Merveille and Sabin Filimon and Paul Poirier and Thao Huynh

DOI: 10.1016/j.cjca.2022.06.011

10 / 2022

Observational study of birth outcomes in children with inborn errors of metabolism

Pediatric Research

Nathalie Auger and Marianne Bilodeau-Bertrand and milie Brousseau and Chantal Nelson and Laura Arbour

DOI: 10.1038/s41390-022-01946-8

10 / 2022

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

Journal of the American Heart Association

Lauren A. Yee and Hui-Chen Han and Brianna Davies and Charles M. Pearman and Zachary W. M. Laksman and Jason D. Roberts and Christian Steinberg and Rafik Tadros and Julia Cadrin-Tourigny and Christopher S. Simpson and Martin Gardner and Ciorsti MacIntyre and Laura Arbour and Richard Leather and Anne Fournier and Martin S. Green and Shane Kimber and Paul Angaran and Shubhayan Sanatani and Jacqueline Joza and Habib Khan and Jeffrey S. Healey and Joseph Atallah and Colette Seifer and Andrew D. Krahn

DOI: 10.1161/jaha.121.025108

09 / 2022

Mechanisms underlying the role of ankyrin-B in cardiac and neurological health and disease

Frontiers in Cardiovascular Medicine

Nicole S. York and Juan C. Sanchez-Arias and Alexa C. H. McAdam and Joel E. Rivera and Laura T. Arbour and Leigh Anne Swayne

DOI: 10.3389/fcvm.2022.964675

08 / 2022

Importance of genetic testing in unexplained cardiac arrest

European Heart Journal

Steffany Grondin and Brianna Davies and Julia Cadrin-Tourigny and Christian Steinberg and Christopher C Cheung and Paloma Jorda and Jeffrey S Healey and Martin S Green and Shubhayan Sanatani and Wael Alqarawi and Paul Angaran and Laura Arbour and Pavel Antiperovitch and Habib Khan and Richard Leather and Peter G Guerra and Lena Rivard and Christopher S Simpson and Martin Gardner and Ciorsti MacIntyre and Colette Seifer and Anne Fournier and Jacqueline Joza and Michael H Gollob and Guillaume Lettre and Mario Talajic and Zachary W Laksman and Jason D Roberts and Andrew D Krahn and Rafik Tadros

DOI: 10.1093/eurheartj/ehac145

08 / 2022

Association of first trimester anaesthesia with risk of congenital heart defects in offspring

International Journal of Epidemiology

Nathalie Auger and Franois M Carrier and Laura Arbour and Aimina Ayoub and Jessica Healy-Profits and Brian J Potter

DOI: 10.1093/ije/dyab019

06 / 2022

Implementation of the BC Congenital Anomalies Surveillance System (BCCASS)

Canadian Journal of Public Health

Yonabeth Nava de Escalante and Aanu Abayomi and Anders Erickson and Xibiao Ye and Rosemary Armour and Laura Arbour and Sylvie Langlois and Bonnie Henry

DOI: 10.17269/s41997-021-00607-3

06 / 2022

Cascade testing for inherited arrhythmia conditions: Experiences and attitudes of family communication approaches for a Canadian cohort

Journal of Genetic Counseling

Amy Ho and Emma Leach and Alice Virani and Laura Arbour and Kirsten Bartels and Eugene K. Wong

DOI: 10.1002/jgc4.1550

06 / 2022

Is there a way to reduce the inequity in variant interpretation on the basis of ancestry?

The American Journal of Human Genetics

Paul S. Appelbaum and Wylie Burke and Erik Parens and David A. Zeevi and Laura Arbour and Nanibaa A. Garrison and Vence L. Bonham and Wendy K. Chung

DOI: 10.1016/j.ajhg.2022.04.012

06 / 2022

Association of Birth Defects With Child Mortality Before Age 14 Years

JAMA Network Open

Marie-Laure Sattolo and Laura Arbour and Marianne Bilodeau-Bertrand and Ga Eun Lee and Chantal Nelson and Nathalie Auger

DOI: 10.1001/jamanetworkopen.2022.6739

04 / 2022

Return of Results Policies for Genomic Research: Current Practices and the Hearts in Rhythm Organization (HiRO) Approach

Canadian Journal of Cardiology

Drake A. Comber and Brianna Davies and Jason D. Roberts and Rafik Tadros and Martin S. Green and Jeffrey S. Healey and Christopher S. Simpson and Shubhayan Sanatani and Christian Steinberg and Ciorsti MacIntyre and Paul Angaran and Henry Duff and Robert Hamilton and Laura Arbour and Richard Leather and Colette Seifer and Anne Fournier and Joseph Atallah and Shane Kimber and Bhavanesh Makanjee and Wael Alqarawi and Julia Cadrin-Tourigny and Jacqueline Joza and Karen Gibbs and Laura Robb and Laura Zahavich and Martin Gardner and Mario Talajic and Alice Virani and Andrew D. Krahn and Anna Lehman and Zachary W.M. Laksman

DOI: 10.1016/j.cjca.2021.10.006

04 / 2022

Time trends, geographic variation and risk factors for gastroschisis in Canada: A population-based cohort study 2006"2017

Paediatric and Perinatal Epidemiology

Shiliang Liu and Jane Evans and Amlie Boutin and Wei Luo and Mihaela Gheorghe and Nathalie Auger and Laura Arbour and Aideen Moore and K. S. Joseph and Julian Little

DOI: 10.1111/ppe.12800

11 / 2021

Development and Evaluation of Decision Aids to Guide Families Predictive Testing Choices for Children at Risk for Arrhythmia or Cardiomyopathy

Canadian Journal of Cardiology

Susan Christian and Alicia Welsh and Jeremy Yetman and Patrician Birch and Kirsten Bartels and Lindsay Burnell and Fiona Curtis and Cathleen Huculak and Laura Zahavich and Laura Arbour and Julien Marcadier and Joseph Atallah

DOI: 10.1016/j.cjca.2021.05.018

10 / 2021

Stillbirth in Canada: anachronistic definition and registration processes impede public health surveillance and clinical care

Canadian Journal of Public Health

K.S. Joseph and Lily Lee and Laura Arbour and Nathalie Auger and Elizabeth K. Darling and Jane Evans and Julian Little and Sarah D. McDonald and Aideen Moore and Phil A. Murphy and Joel G. Ray and Heather Scott and Prakesh Shah and Michiel VanDenHof and Michael S. Kramer

DOI: 10.17269/s41997-021-00483-x

08 / 2021

Association of the CPT1A p.P479L Metabolic Gene Variant With Childhood Respiratory and Other Infectious Illness in Nunavut

Frontiers in Pediatrics

Sorcha A. Collins and Sharon Edmunds and Gwen Healey Akearok and J. Robert Thompson and Anders C. Erickson and Elske Hildes-Ripstein and Amber Miners and Martin Somerville and David M. Goldfarb and Cheryl Rockman-Greenberg and Laura Arbour

DOI: 10.3389/fped.2021.678553

07 / 2021

Neonatal hypoglycemia and the CPT1A P479L variant in term newborns: A retrospective cohort study of Inuit newborns from Kivalliq Nunavut

Paediatrics & Child Health

Sorcha A Collins and Gertrude Elizabeth Hildes-Ripstein and James Robert Thompson and Sharon Edmunds and Amber Miners and Cheryl Rockman-Greenberg and Laura Arbour

DOI: 10.1093/pch/pxaa039

06 / 2021

Coeliac disease and risk of birth defects in pregnancy

Gut

Nathalie Auger and Amelie Therrien and Marianne Bilodeau-Bertrand and Chantal Nelson and Laura Arbour

DOI: 10.1136/gutjnl-2020-322425

06 / 2021

Variant Reinterpretation in Survivors of Cardiac Arrest With Preserved Ejection Fraction (the Cardiac Arrest Survivors With Preserved Ejection Fraction Registry) by Clinicians and Clinical Commercial Laboratories

Circulation: Genomic and Precision Medicine

Brianna Davies and Kirsten Bartels and Julie Hathaway and Fang Xu and Jason D. Roberts and Rafik Tadros and Martin S. Green and Jeffrey S. Healey and Christopher S. Simpson and Shubhayan Sanatani and Christian Steinberg and Martin Gardner and Paul Angaran and Mario Talajic and Robert Hamilton and Laura Arbour and Colette Seifer and Anne Fournier and Jacqueline Joza and Andrew D. Krahn and Anna Lehman and Zachary W.M. Laksman

DOI: 10.1161/circgen.120.003235

06 / 2021

Post-partum Primary Biliary Cholangitis Preceded by Intrahepatic Cholestasis of Pregnancy in Three First Nation Patients

Digestive Diseases and Sciences

Daljeet Chahal and Eric M. Yoshida and Laura Arbour and Jean-Phillipe Wallach

DOI: 10.1007/s10620-020-06333-z

04 / 2021

Barriers and Considerations for Diagnosing Rare Diseases in Indigenous Populations

Frontiers in Pediatrics

Carla S. D'Angelo and Azure Hermes and Christopher R. McMaster and Elissa Prichep and tienne Richer and Francois H. van der Westhuizen and Gabriela M. Repetto and Gong Mengchun and Helen Malherbe and Juergen K. V. Reichardt and Laura Arbour and Maui Hudson and Kelly du Plessis and Melissa Haendel and Phillip Wilcox and Sally Ann Lynch and Shamir Rind and Simon Easteal and Xavier Estivill and Yarlalu Thomas and Gareth Baynam

DOI: 10.3389/fped.2020.579924

12 / 2020

The Hearts in Rhythm Organization: A Canadian National Cardiogenetics Network

CJC Open

Brianna Davies and Jason D. Roberts and Rafik Tadros and Martin S. Green and Jeffrey S. Healey and Christopher S. Simpson and Shubhayan Sanatani and Christian Steinberg and Ciorsti MacIntyre and Paul Angaran and Henry Duff and Robert Hamilton and Laura Arbour and Richard Leather and Colette Seifer and Anne Fournier and Joseph Atallah and Shane Kimber and Bhavanesh Makanjee and Wael Alqarawi and Julia Cadrin-Tourigny and Jacqueline Joza and Jimmy McKinney and Stephanie Clarke and Zachary W.M. Laksman and Karen Gibbs and Vuk Vuksanovic and Martin Gardner and Mario Talajic and Andrew D. Krahn

DOI: 10.1016/j.cjco.2020.05.006

11 / 2020

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

Journal of Genetic Counseling

Lee-Anna Huisman and Simona Bene Watts and Laura Arbour and Rod McCormick

DOI: 10.1002/jgc4.1255

08 / 2020

Severe maternal morbidity surveillance: Monitoring pregnant women at high risk for prolonged hospitalisation and death

Paediatric and Perinatal Epidemiology

Susie Dzakpasu and Paromita Deb-Rinker and Laura Arbour and Elizabeth K. Darling and Michael S. Kramer and Shiliang Liu and Wei Luo and Phil A. Murphy and Chantal Nelson and Joel G. Ray and Heather Scott and Michiel VandenHof and K. S. Joseph

DOI: 10.1111/ppe.12574

07 / 2020

Rights, interests and expectations: Indigenous perspectives on unrestricted access to genomic data

Nature Reviews Genetics

Maui Hudson and Nanibaa A. Garrison and Rogena Sterling and Nadine R. Caron and Keolu Fox and Joseph Yracheta and Jane Anderson and Phil Wilcox and Laura Arbour and Alex Brown and Maile Taualii and Tahu Kukutai and Rodney Haring and Ben Te Aika and Gareth S. Baynam and Peter K. Dearden and David Chagn and Ripan S. Malhi and Ibrahim Garba and Nicki Tiffin and Deborah Bolnick and Matthew Stott and Anna K. Rolleston and Leah L. Ballantyne and Ray Lovett and Dominique David-Chavez and Andrew Martinez and Andrew Sporle and Maggie Walter and Jeff Reading and Stephanie Russo Carroll

DOI: 10.1038/s41576-020-0228-x

06 / 2020

Inflammatory Bowel Disease and Risk of Birth Defects in Offspring

Journal of Crohn's and Colitis

Nathalie Auger and Justin Ct-Daigneault and Marianne Bilodeau-Bertrand and Laura Arbour

DOI: 10.1093/ecco-jcc/jjz211

06 / 2020

Ankyrin-B p.S646F undergoes increased proteasome degradation and reduces cell viability in the H9c2 rat ventricular cardiomyoblast cell line

Biochemistry and Cell Biology

Lena Chen and Catherine S.W. Choi and Juan C. Sanchez-Arias and Laura T. Arbour and Leigh Anne Swayne

DOI: 10.1139/bcb-2019-0082

04 / 2020

Indigenous Genomic Databases: Pragmatic Considerations and Cultural Contexts

Frontiers in Public Health

Nadine Rena Caron and Meck Chongo and Maui Hudson and Laura Arbour and Wyeth W. Wasserman and Stephen Robertson and Solenne Correard and Phillip Wilcox

DOI: 10.3389/fpubh.2020.00111

04 / 2020

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

Molecular Genetics & Genomic Medicine

Matthew Tung and Filip Van Petegem and Samantha Lauson and Ashley Collier and Kathy Hodgkinson and Bridget Fernandez and Sean Connors and Rick Leather and Shubhayan Sanatani and Laura Arbour

DOI: 10.1002/mgg3.1151

04 / 2020

Explaining the variability in cardiovascular risk factors among First Nations communities in Canada: a population-based study

The Lancet Planetary Health

Sonia S Anand and Sylvia Abonyi and Laura Arbour and Kumar Balasubramanian and Jeffrey Brook and Heather Castleden and Vicky Chrisjohn and Ida Cornelius and Albertha Darlene Davis and Dipika Desai and Russell J de Souza and Matthias G Friedrich and Stewart Harris and James Irvine and Jean L'Hommecourt and Randy Littlechild and Lisa Mayotte and Sarah McIntosh and Julie Morrison and Richard T Oster and Manon Picard and Paul Poirier and Karleen M Schulze and Ellen L Toth

DOI: 10.1016/s2542-5196(19)30237-2

12 / 2019

Ankyrin B and Ankyrin B variants differentially modulate intracellular and surface Cav2.1 levels

Molecular Brain

Catherine S. W. Choi and Ivana A. Souza and Juan C. Sanchez-Arias and Gerald W. Zamponi and Laura T. Arbour and Leigh Anne Swayne

DOI: 10.1186/s13041-019-0494-8

12 / 2019

Bariatric surgery and the risk of congenital anomalies in subsequent pregnancies

The American Journal of Clinical Nutrition

Nathalie Auger and Marianne Bilodeau-Bertrand and Rasmi M Tith and Laura Arbour

DOI: 10.1093/ajcn/nqz195

11 / 2019

Future risk of cancer in women who have children with birth defects

Annals of Epidemiology

Nathalie Auger and Julian Little and Laura Arbour and Marianne Bilodeau-Bertrand and Marie-Hlne Mayrand

DOI: 10.1016/j.annepidem.2019.07.009

09 / 2019

The p. P479L variant in CPT1A is associated with infectious disease in a BC First Nation

Paediatrics & Child Health

05 / 2019

Maternal proximity to extremely low frequency electromagnetic fields and risk of birth defects

European Journal of Epidemiology

04 / 2019

Genomic Research Through an Indigenous Lens: Understanding the Expectations

Annual Review of Genomics and Human Genetics

03 / 2019

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

European Journal of Medical Genetics

Ying Qiao and Hani Bagheri and Flamingo Tang and Chansonette Badduke and Sally Martell and Suzanne M.E. Lewis and Wendy Robinson and Mary B. Connolly and Laura Arbour and Evica Rajcan-Separovic

DOI: 10.1016/j.ejmg.2018.06.010

02 / 2019

Severe Maternal Morbidity in Canada: Temporal Trends and Regional Variations, 2003-2016

Journal of Obstetrics and Gynaecology Canada

02 / 2019

Pre-pregnancy asthma and the subsequent risk of central nervous system defects in offspring

Birth Defects Research

01 / 2019

Early repolarization pattern inheritance in the cardiac arrest survivors with preserved ejection fraction registry (CASPER)

JACC: Clinical Electrophysiology

08 / 2018

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

Canadian journal of public health. Revue canadienne de sant publique

DOI: 10.17269/s41997-018-0085-y

05 / 2018

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

Liver International

Sirisha Asuri and Sarah McIntosh and Valerie Taylor and Andrew Rokeby and James Kelly and Karey Shumansky and Lanora Leigh Field and Eric M. Yoshida and Laura Arbour

DOI: 10.1111/liv.13686

05 / 2018

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

Archives of women's mental health

DOI: 10.1007/s00737-018-0819-0

02 / 2018

Pregnancy outcomes of women with spina bifida

Disability and rehabilitation

DOI: 10.1080/09638288.2018.1425920

01 / 2018

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

Progress in Community Health Partnerships: Research, Education, and Action

DOI: 10.1353/cpr.2018.0006

Cost Analysis of Patients Referred for Inherited Heart Rhythm Disorder Evaluation

Canadian Journal of Cardiology

Janzen, Mikyla L and Cheung, Christopher and Sanatani, Shubhayan and Cunningham, Taylor and Kerr, Charles and Steinberg, Christian and Sherwin, Elizabeth and Arbour, Laura and Deyell, Marc W and Andrade, Jason G and Lehman, Anna M and Gula, Lorne J and Krahn, Andrew D

DOI: 10.1016/j.cjca.2016.12.009

06 / 2017

Genetic Testing in the Evaluation of Unexplained Cardiac Arrest

Circulation: Cardiovascular Genetics

Mellor, Greg and Laksman, Zachary WM and Tadros, Rafik and Roberts, Jason D and Gerull, Brenda and Simpson, Christopher S and Klein, George J and Champagne, Jean and Talajic, Mario and Gardner, Martin and Steinberg, Christian and Arbour, Laura and Birnie, David H and Angaran, Paul and Leather, Richard and Sanatani, Shubhayan and Chauhan, Vijay S and Seifer, Colette and Healey, Jeffrey S and Krahn, Andrew D

DOI: 10.1161/CIRCGENETICS.116.001686

06 / 2017

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

Journal of Medical Genetics

Kapplinger, Jamie D and Erickson, Anders and Asuri, Sirisha and Tester, David J and McIntosh, Sarah and Kerr, Charles R and Morrison, Julie and Tang, Anthony and Sanatani, Shubhayan and Arbour, Laura and Ackerman, Michael J

DOI: 10.1136/jmedgenet-2016-104153

03 / 2017

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

Circulation: Cardiovascular Genetics

Swayne, Leigh Anne and Murphy, Nathaniel P and Asuri, Sirisha and Chen, Lena and Xu, Xiaoxue and McIntosh, Sarah and Wang, Chao and Lancione, Peter J and Roberts, Jason D and Kerr, Charles and Sanatani, S and Sherwin, E and Kline, CF and Zhang, M and Mohler, PJ and Arbour, LT

DOI: 10.1161/CIRCGENETICS.116.001537

02 / 2017

Elevated ambient temperatures and risk of neural tube defects

Occupational & Environmental Medicine

Auger, Nathalie and Fraser, William D and Arbour, Laura and Bilodeau-Bertrand, Marianne and Kosatsky, Tom

DOI: 10.1136/oemed-2016-103956

02 / 2017

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

Journal of genetic counseling

Predham, Sarah and Hathaway, Julie and Hulait, Gurdip and Arbour, Laura and Lehman, Anna

DOI: 10.1007/s10897-016-9991-4

02 / 2017

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

Critical reviews in toxicology

Foster, Warren G and Evans, Jane A and Little, Julian and Arbour, Laura and Moore, Aideen and Sauve, Reg and Andrs Len, Juan and Luo, Wei

DOI: 10.1080/10408444.2016.1211090

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

Archives of Disease in Childhood-Fetal and Neonatal Edition

Auger, Nathalie and Quach, Caroline and Healy-Profits, Jessica and Lowe, Anne-Marie and Arbour, Laura

DOI: 10.1136/archdischild-2016-311199

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

Canadian Journal of Cardiology

Krahn, Andrew D and Healey, Jeffrey S and Gerull, Brenda and Angaran, Paul and Chakrabarti, Santabhanu and Sanatani, Shubhayan and Arbour, Laura and Laksman, Zachary WM and Carroll, Sandra L and Seifer, Colette and Greene, Martin and Roberts, Jason D and Talajic, Mario and Hamilton, Robert and Gardner, Martin

DOI: 10.1016/j.cjca.2016.04.004

12 / 2016

Pre-eclampsia and risk of infantile haemangioma

British Journal of Dermatology

Auger, N and Fraser, WD and Arbour, L and Healy-Profits, J and Drolet, BA

DOI: 10.1111/bjd.14958

08 / 2016

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

BMC Public Health

Erickson, Anders C and Ostry, Aleck and Chan, Hing Man and Arbour, Laura

DOI: 10.1186/s12889-016-3273-9

07 / 2016

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

Environmental Health

Erickson, Anders C and Ostry, Aleck and Chan, Laurie HM and Arbour, Laura

DOI: 10.1186/s12940-016-0133-0

04 / 2016

Increased corrected QT interval (QTc) in First Nations women of Northern British Columbia with Systemic Lupus Erythematosus (SLE)

International Journal of Clinical Cardiology

Munday, F and Asuri, S and McIntosh, S and Jackson, HA and Tang, A and Arbour, L

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

Canadian Journal of Public Health

Bassil, Kate L and Yang, Junmin and Arbour, Laura and Moineddin, Rahim and Brindle, Mary E and Hazell, Emily and Skarsgard, Erik D

DOI: 10.17269/CJPH.107.5084

Association between preeclampsia and congenital heart defects

JAMA

Auger, Nathalie and Fraser, William D and Healy-Profits, Jessica and Arbour, Laura

DOI: 10.1001/jama.2015.12505

10 / 2015

The genetics of cardiovascular disease in Canadian and international aboriginal populations

Canadian Journal of Cardiology

Arbour, Laura and Asuri, Sirisha and Whittome, Beatrixe and Polanco, Fernando and Hegele, Robert A

DOI: 10.1016/j.cjca.2015.07.005

09 / 2015

Maternal and community predictors of gastroschisis and congenital diaphragmatic hernia in Canada

Pediatric Surgery International

Shariff, Farhana and Peters, Paul A and Arbour, Laura and Greenwood, Margo and Skarsgard, Erik and Brindle, Mary

DOI: 10.1007/s0038

09 / 2015

Maternal risk factors for gastroschisis in Canada

Birth Defects Research Part A: Clinical and Molecular Teratology

Skarsgard, Erik D and Meaney, Christopher and Bassil, Kate and Brindle, Mary and Arbour, Laura and Moineddin, Rahim and (CAPSNet), Canadian Pediatric Surgery Network

DOI: 10.1002/bdra.23349

02 / 2015

The Shared Pathoetiological Effects of Particulate Air Pollution and the Social Environment on Fetal-Placental Development

Journal of Environmental and Public Health

Anders C. Erickson and Laura Arbour

DOI: 10.1155/2014/901017

LQTS in Northern BC: homozygosity for KCNQ1 V205M presents with a more severe cardiac phenotype but with minimal impact on auditory function

Clinical Genetics

Jackson, HA and McIntosh, S and Whittome, B and Asuri, S and Casey, B and Kerr, C and Tang, A and Arbour, LT

DOI: 10.1111/cge.12235

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

Journal of Nursing Education and Practice

Janzen, Mikyla and Sanatani, Shubhayan and Gibbs, Karen A and Mohammed, Saira S and Hathaway, Julie and Arbour, Laura and Krahn, Andrew D

DOI: 10.5430/jnep.v4n3p225

Capacity Interrupted: The Kloshe Tillicum Graduate Student Training Experience

Canadian Journal of Native Education

Caron, NR and Thira, SA and McCormick, RM and Butler-Walker, JJE and Lalonde, CE and Arbour, L and Vedan, RW and Jovel, EM

Recognizing life-threatening causes of syncope

Cardiology clinics

Khoo, Clarence and Chakrabarti, Santabhanu and Arbour, Laura and Krahn, Andrew D

DOI: 10.1016/j.ccl.2012.10.005

02 / 2013

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

Canadian Journal of Cardiology

Krahn, Andrew D and Sanatani, Shubhayan and Gardner, Martin J and Arbour, Laura

DOI: 10.1016/j.cjca.2012.11.009

01 / 2013

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

BMC pediatrics

Collins, Sorcha A and Surmala, Padma and Osborne, Geraldine and Greenberg, Cheryl and Bathory, Laakkuluk Williamson and Edmunds-Potvin, Sharon and Arbour, Laura

DOI: 10.1186/1471-2431-12-190

12 / 2012

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

Pediatrics

Sinclair, Graham B and Collins, Sorcha and Popescu, Oana and McFadden, Deborah and Arbour, Laura and Vallance, Hilary D

DOI: 10.1542/peds.2011-2924

11 / 2012

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

American Journal of Medical Genetics Part A

Tsang, Erica and Rupps, Rosemarie and McGillivray, Barbara and Eydoux, Patrice and Marra, Marco and Arbour, Laura and Langlois, Sylvie and Friedman, Jan M and Zahir, Farah R

DOI: 10.1002/ajmg.a.35568

08 / 2012

Beckwith"Wiedemann syndrome in sibs discordant for IC2 methylation

American Journal of Medical Genetics Part A

Niederhoffer, Karen Y and Peaherrera, Maria and Pugash, Denise and Rupps, Rosemarie and Arbour, Laura and Tessier, Francine and Choufani, Sanaa and Zhao, Chunhua and Manokhina, Irina and Shuman, Cheryl and Robinson, Wendy P and Weksberg, Rosanna and Boerkoel, Cornelius F

DOI: 10.1002/ajmg.a.35377

05 / 2012

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

BMC Public Health

Erickson, Anders C and Arbour, Laura T

DOI: 10.1186/1471-2458-12-102

02 / 2012

Developing healthy communities: understanding maternal child health determinants in Nunavut

International Journal of Circumpolar Health

Arbour, Laura

DOI: 10.3402/ijch.v72i0.22447

Long QT syndrome

Canadian Medical Association Journal

Jackson, Heather and Huisman, Lee-Anna and Sanatani, Shubhayan and Arbour, Laura T

DOI: 10.1503/cmaj.100138

08 / 2011

Exposure to anesthetic gases and congenital anomalies in offspring of female registered nurses

American journal of industrial medicine

Teschke, Kay and Abanto, Zenaida and Arbour, Laura and Beking, Kris and Chow, Yat and Gallagher, Richard P and Jong, Ben and Le, Nhu D and Ratner, Pamela A and Spinelli, John J and Dimich-Ward, Helen

DOI: 10.1002/ajim.20875

01 / 2011

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

International journal of occupational and environmental health

Dimich-Ward, Helen and Le, Nhu D and Beking, Kris and Dybuncio, Anne and Spinelli, John J and Gallagher, Richard P and Ratner, Pamela A and Arbour, Laura and Teschke, Kay

DOI: 10.1179/107735211799041922

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

International journal of circumpolar health

Lauson, Samantha and McIntosh, Sarah and Obed, Natan and Healey, Gwen and Asuri, Sirisha and Osborne, Geraldine and Arbour, Laura

DOI: 10.3402/ijch.v70i4.17840

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

Molecular genetics and metabolism

Collins, Sorcha A and Sinclair, Graham and McIntosh, Sarah and Bamforth, Fiona and Thompson, Robert and Sobol, Isaac and Osborne, Geraldine and Corriveau, Andre and Santos, Maria and Hanley, Brendan and Greenberg, Cheryl R and Vallance, Hilary and Arbour, Laura

DOI: 10.1016/j.ymgme.2010.07.013

Human health and the ends of the earth

Rural and Remote Health

Arbour, L and Parkinson, A and Kulig, JC

Constitutional translocation breakpoint mapping by genome-wide paired-end sequencing identifies HACE1 as a putative Wilms tumour susceptibility gene

Journal of Medical Genetics

Slade, Ingrid and Stephens, Phil and Douglas, Jenny and Barker, Karen and Stebbings, Lucy and Abbaszadeh, Fatemeh and Pritchard-Jones, Kathryn and Collaboration, FACT and Cole, Rachel and Pizer, Barry and Stiller, Charles and Vujanic, G and Scott, RH and Stratton, Michael R and Rahman, N

DOI: 10.1136/jmg.2009.072983

Maternal smoking at first prenatal visit as a marker of risk for adverse pregnancy outcomes in the Qikiqtaaluk (Baffin) Region

Rural and Remote Health

Mehaffey, K and Higginson, A and Cowan, J and Osborne, GM and Arbour, LT

Rates of hospitalization for lung infection of Inuit infants from the Baffin Region and association with heart defects 2000"2005

Circumpolar Health Supplements

Peters, Sarah and Cowan, J and Osborne, G and Sobol, I and Arbour, L

Rates of congenital anomalies and other adverse birth outcomes in an offspring cohort of registered nurses from British Columbia, Canada

Canadian Journal of Public Health/Revue Canadienne de Sante'e Publique

Arbour, Laura T and Beking, Kris and Le, Nhu D and Ratner, Pamela A and Spinelli, John J and Teschke, Kay and Gallagher, Richard P and Abanto, Zenaida U and Dimich-Ward, Helen

Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome

The American Journal of Human Genetics

McLarren, Keith W and Severson, Tesa M and du Souich, Christle and Stockton, David W and Kratz, Lisa E and Cunningham, David and Hendson, Glenda and Morin, Ryan D and Wu, Diane and Paul, Jessica E and Am, Jianghong and Nelson, Tanya N and Chou, Athena and DeBarber, Andrea E and Merkens, Louise S and Michaud, Jacques L and Waters, Paula J and Yin, Jingyi and McGillivray, Barbara and Demos, Michelle and Rouleau, Guy A and Grzeschik, Karl-Heinz and Smith, Raffaella and Tarpey, Patrick S and Shears, Debbie and Schwartz, Charles E and Gecz, Jozef and Stratton, Michael R and Arbour, Laura and Hurlburt, Jane and Van Allen, Margot I and Herman, Gail E and Zhao, Yongjun and Moore, Richard and Kelley, Richard I and Jones, Steven JM and Steiner, Robert D and Raymond, F Lucy and Marra, Marco A and Boerkoel, Cornelius F

DOI: 10.1016/j.ajhg.2010.11.004

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

BMC Genomics

Friedman, JM and Adam, Shelin and Arbour, Laura and Armstrong, Linlea and Baross, Agnes and Birch, Patricia and Boerkoel, Cornelius and Chan, Susanna and Chai, David and Delaney, Allen D and Flibotte, Stephane and Gibson, William T and Langlois, Sylvie and Lemyre, Emmanuelle and Li, H Irene and MacLeod, Patrick and Mathers, Joan and Michaud, Jacques L and McGillivray, Barbara C and Patel, Millan S and Qian, Hong and Rouleau, Guy A and Van Allen, Margot I and Yong, Siu-Li and Zahir, Farah R and Eydoux, Patrice and Marra, Marco

DOI: 10.1186/1471-2164-10-526

11 / 2009

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

American Journal of Medical Genetics Part A

du Souich, Christle and Chou, Athena and Yin, Jingyi and Oh, Tracey and Nelson, Tanya N and Hurlburt, Jane and Arbour, Laura and Friedlander, Robin and McGillivray, Barbara C and Tyshchenko, Nataliya and Rump, Andreas and Poskitt, Kenneth J and Demos, Michelle K and Van Allen, Margot I and Boerkoel, Cornelius F

DOI: 10.1002/ajmg.a.33071

10 / 2009

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

International journal of circumpolar health

Arbour, Laura and Melnikov, Vladimir and McIntosh, Sarah and Olsen, Britta and Osborne, Geraldine and Vaktskjold, Arild

DOI: 10.3402/ijch.v68i5.17376

Race and ancestry in biomedical research: exploring the challenges

Genome medicine

Caulfield, Timothy and Fullerton, Stephanie M and Ali-Khan, Sarah E and Arbour, Laura and Burchard, Esteban G and Cooper, Richard S and Hardy, Billie-Jo and Harry, Simrat and Hyde-Lay, Robyn and Kahn, Jonathan and Kittles, R and Koenig, BA and Lee, SS and Malinowski, M and Ravitsky, V and Sankar, P and Scherer, SW and Sguin, B and Shickle, D and Saurez-Kurtz, G and Daar, AS

DOI: 10.1186/gm8

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

Molecular Cytogenetics

Tyson, Christine and Qiao, Ying and Harvard, Chansonette and Liu, Xudong and Bernier, Francois P and McGillivray, Barbara and Farrell, Sandra A and Arbour, Laura and Chudley, Albert E and Clarke, Lorne and Gibson, William and Dyack, Sarah and McLeod, Patrick and Patel, Millan S and Hurlburt, Jane and Holden, Jeanette JA and Lewis, Suzanne ME and Rajcan-Separovic, E

DOI: 10.1186/1755-8166-1-23

11 / 2008

Constitutional 11p15 abnormalities, including heritable imprinting center mutations, cause nonsyndromic Wilms tumor

Nature Genetics

Scott, Richard H and Douglas, Jenny and Baskcomb, Linda and Huxter, Nikki and Barker, Karen and Hanks, Sandra and Craft, Alan and Gerrard, Mary and Kohler, Janice A and Levitt, Gill A and Picton, Sue and Pizer, Barry and Ronghe, Milind and Williams, Denise and Collaborators, Factors Associated with Childhood Tumours (FACT) and Cook, Jackie A and Pujol, Pascal and Maher, Eamonn R and Birch, Jillian M and Stiller, Charles A and Pritchard-Jones, Kathryn and Rahman, Nazneen

DOI: 10.1038/ng.243

10 / 2008

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

Genetics in Medicine

Arbour, Laura and Rezazadeh, Saman and Eldstrom, Jodene and Weget-Simms, Gwen and Rupps, Rosemarie and Dyer, Zoe and Tibbits, Glen and Accili, Eric and Casey, Brett and Kmetic, Andrew and Sanatani, Shubhayan and Fedida, David

DOI: 10.1097/GIM.0b013e31817c6b19

07 / 2008

Changes in frequencies of select congenital anomalies since the onset of folic acid fortification in a Canadian birth defect registry

Canadian Journal of Public Health/Revue Canadienne de Sante'e Publique

Godwin, Kimberly A and Sibbald, Barbara and Bedard, Tanya and Kuzeljevic, Boris and Lowry, R Brian and Arbour, Laura

Congenital heart defects in Canadian Inuit: is more folic acid making a difference?

Alaska Medicine

Arbour, LT and Rupps, R and MacDonald, S and Forth, M and Yang, J and Nowdluk, M and Osborne, G

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

Canadian Journal of Gastroenterology and Hepatology

Chung, Henry V and Riley, Mark and Ho, Jin K and Leung, Benjamin and Jevon, Gareth P and Arbour, Laura T and Barker, Colin and Schreiber, Richard and Yoshida, Eric M

DOI: 10.1155/2007/757906

Oligonucleotide microarray analysis of genomic imbalance in children with mental retardation

The American Journal of Human Genetics

Friedman, JM and Baross, gnes and Delaney, Allen D and Ally, Adrian and Arbour, Laura and Asano, Jennifer and Bailey, Dione K and Barber, Sarah and Birch, Patricia and Brown-John, Mabel and Cao, Manqui and Chan, Susanna and Charest, David L and Farnoud, Noushin and Fernandes, Nicole and Flibotte, Stephane and Go, Anne and Gibson, William T and Holt, Robert A and Jones, Steven JM and Kennedy, Giulia C and Krzywinski, Martin and Langlois, Sylvie and Li, Haiyan I and McGillivray, Barbara C and Nayar, Tarun and Pugh, Trevor J and Rajcan-Separovic, Evica and Schein, Jacqueline E and Schnerch, Angelique and Siddiqui, Asim and Van Allen, Margot I and Wilson, Gary and Yong, Siu-Li and Zahir, Farah and Eydoux, Patrice and Marra, Marco A

DOI: 10.1086/507471

09 / 2006

Autoimmune liver disease and the Canadian First Nations aboriginal communities of British Columbias Pacific Northwest

World Journal of Gastroenterology

Yoshida, Eric M and Riley, Mark and Arbour, Laura T

DOI: 10.3748/wjg.v12.i23.3625

06 / 2006

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

Public Health Genomics

Arbour, Laura and Cook, Doris

DOI: 10.1159/000092651

Liver disease in the indigenous populations of the Arctic, sub-Arctic, and Pacific Northwest: An approach to investigations in Alaska and British Columbia

British Columbia Medical Journal

Ko, Hin Hin and Chung, HV and McMahon, BJ and Hurlburt, KJ and Arbour, LT and Yoshida, EM

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

Journal of Obstetrics and Gynaecology Canada

Altman, Alon D and McLaughlin, Janice and Schellenberg, Robert and Penner, Charles and Arbour, Laura and Tsang, Peter and Ballem, Penny and Lim, Kenneth I

DOI: 10.1016/S1701-2163(16)32048-5

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

American Journal of Medical Genetics Part A

Tyson, C and Harvard, C and Locker, R and Friedman, JM and Langlois, S and Lewis, MES and Van Allen, M and Somerville, M and Arbour, L and Clarke, L and McGillivray, B and Yong, SL and Siegel-Bartel, J and Rajcan-Separovic, E

DOI: 10.1002/ajmg.a.31015

11 / 2005

Recurrent trisomy 21: four cases in three generations

Clinical genetics

Gair, JL and Arbour, L and Rupps, R and Jiang, R and Bruyere, H and Robinson, WP

DOI: 10.1111/j.1399-0004.2005.00512.x

08 / 2005

Prenatally detected trisomy 20 mosaicism

Prenatal diagnosis

Robinson, WP and McGillivray, B and Lewis, MES and Arbour, L and Barrett, I and Kalousek, DK

DOI: 10.1002/pd.1121

03 / 2005

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

Canadian Journal of Gastroenterology and Hepatology

Arbour, Laura and Rupps, Rosemarie and Field, Leigh and Ross, Paul and Erikson, Anders and Henderson, Harvey and Hill, Warren and Yoshida, Eric M

DOI: 10.1155/2005/203028

The mystery of primary biliary cirrhosis in British Columbias First Nations people

International journal of circumpolar health

Arbour, Laura and Field, Leigh and Ross, Paul and Erikson, Anders and Yoshida, Eric

DOI: 10.3402/ijch.v63i0.17896

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

International journal of circumpolar health

Arbour, L and Gilpin, C and Millor-Roy, V and Platt, R and Pekeles, G and Egeland, GM and Hodgins, S and Eydoux, P

DOI: 10.3402/ijch.v63i3.17720

Age differences in vitamin A intake among Canadian Inuit

Canadian Journal of Public Health/Revue Canadienne de Sante'e Publique

Egeland, Grace M and Berti, Peter and Soueida, Rula and Arbour, Laura T and Receveur, Olivier and Kuhnlein, Harriet V

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

The American Journal of Human Genetics

Hanks, Sandra and Adams, Sarah and Douglas, Jenny and Arbour, Laura and Atherton, David J and Balci, Sevim and Bode, Harald and Campbell, Mary E and Feingold, Murray and Keser, Gkhan and Kleijer, Wim and Mancini, Grazia and McGrath, John A and Muntoni, Francesco and Nanda, Arti and Teare, M Dawn and Warman, Matthew and Pope, F Michael and Superti-Furga, Andrea and Futreal, P Andrew and Rahman, Nazneen

DOI: 10.1086/378418

The gene for juvenile hyaline fibromatosis maps to chromosome 4q21

The American Journal of Human Genetics

Rahman, Nazneen and Dunstan, Melanie and Teare, M Dawn and Hanks, Sandra and Edkins, Sarah J and Hughes, Jaime and Bignell, Graham R and Mancini, Grazia and Kleijer, Wim and Campbell, Mary and Kesser, Gokhan and Black, Carol and Williams, Nigel and Arbour, Laura and Warman, Matthew and Superti-Furga, Andrea and Futreal, P Andrew and Pope, F Michael

DOI: 10.1086/342776

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

International journal of circumpolar health

Arbour, Laura and Christensen, Benedicte and Delormier, Treena and Platt, Robert and Gilfix, Brian and Forbes, Patricia and Kovitch, Ingrid and Morel, Joanne and Rozen, Rima

DOI: 10.3402/ijch.v61i4.17492

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

Prenatal diagnosis

Aubertin, G and Cripps, S and Coleman, G and McGillivray, B and Yong, SL and Van Allen, M and Shaw, D and Arbour, L

DOI: 10.1002/pd.319

Recurrent trisomy 15 in a female carrier of der (15) t (Y; 15)(q12; p13)

American Journal of Medical Genetics Part A

Rajcan-Separovic, Evica and Robinson, Wendy P and Stephenson, Mary and Pantzar, Tapio and Arbour, Laura and McFadden, Deborah and Guscott, Janet

DOI: 10.1002/1096-8628(2001)9999:9999u003C::AID-AJMG1173u003E3.0.CO;2-1

Association of non-syndromic macrocephaly with autism

American Journal of Medical Genetics Part A

Fraser, FC and Arbour, LA

DOI: 10.1002/ajmg.10072

Variable onset of metachromatic leukodystrophy in a Vietnamese family

Pediatric neurology

Arbour, Laura T and Silver, Kenneth and Hechtman, Peter and Treacy, Eileen P and Coulter-Mackie, Marion B

DOI: 10.1016/S0887-8994(00)00164-8

Penetrance of mutations in the familial Wilms tumor gene FWT1

Journal of the National Cancer Institute

Rahman, Nazneen and Arbour, Laura and Houlston, Richard and Bonaiti-Pelli, Catherine and Abidi, Fatima and Tranchemontagne, Julie and Ford, Debbie and Narod, Steven and Pritchard-Jones, Kathy and Foulkes, William D and Schwartz, Charles and Stratton, Michael R

DOI: 10.1093/jnci/92.8.650

Indications for Liver Tranplantation in British Columbias Aboriginal Population: A 10-Year Retrospective Analysis

Canadian Journal of Gastroenterology and Hepatology

Yoshida, Eric M and Caron, Nadine R and Buczkowski, Andrzej K and Arbour, Laura T and Scudamore, Charles H and Steinbrecher, Urs P and Erb, Siegfried R and Chung, Stephen W

DOI: 10.1155/2000/907463

Intrauterine exposure to clomiphene and neonatal persistent hyperplastic primary vitreous

Teratology

Bishai, R and Arbour, L and Lyons, C and Koren, G

DOI: 10.1002/(SICI)1096-9926(199909)60:3u003C143::AID-TERA9u003E3.0.CO;2-#

Discordant measures of androgen-binding kinetics in two mutant androgen receptors causing mild or partial androgen insensitivity, respectively

The Journal of Clinical Endocrinology & Metabolism

Shkolny, Dana L and Beitel, Lenore K and Ginsberg, Jody and Pekeles, Gary and Arbour, Laura and Pinsky, Leonard and Trifiro, Mark A

DOI: 10.1210/jcem.84.2.5453

Genetic polymorphisms in methylenetetrahydrofolate reductase and methionine synthase, folate levels in red blood cells, and risk of neural tube defects

American Journal of Medical Genetics Part A

Christensen, Benedicte and Arbour, Laura and Tran, Pamela and Leclerc, Daniel and Sabbaghian, Nelly and Platt, Robert and Gilfix, Brian M and Rosenblatt, David S and Gravel, Roy A and Forbes, Patricia and Rozen, Rima

DOI: 10.1002/(SICI)1096-8628(19990521)84:2u003C151::AID-AJMG12u003E3.0.CO;2-T

Proposed model for interaction between residents and residency training programs, and pharmaceutical industry

Annals (Royal College of Physicians and Surgeons of Canada)

Razack, Saleem and Arbour, Laura and Hutcheon, Robert

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

Human genetics

Rahman, N and Abidi, Fatima and Ford, Deborah and Arbour, Laura and Rapley, Elizabeth and Tonin, Patricia and Barton, David and Batcup, Gillian and Berry, J and Cotter, Finbarr and Davison, Val and Gerrard, Mary and Gray, Elizabeth and Grundy, Richard and Hanafy, Magdi and King, Derek and Lewis, Ian and Ridolfi Luethy, Annette and Madlenski, Lisa and Mann, Jill and O'Meara, Anne and Oakhill, Tony and Skolnick, Mark and Strong, Louise and Variend, Dick and Narod, Steven and Schwartz, Charles and Pritchard-Jones, Kathryn and Stratton, Michael R

DOI: 10.1007/PL00008708

An autosomal dominant form of familial persistent hyperinsulinemic hypoglycemia of infancy, not linked to the sulfonylurea receptor locus

The Journal of Clinical Endocrinology & Metabolism

Kukuvitis, Asterios and Deal, Cheri and Arbour, Laura and Polychronakos, Constantin

DOI: 10.1210/jcem.82.4.3904

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

Oncogene

Rahman, Nazneen and Arbour, Laura and Tonin, Patricia and Baruchel, Sylvain and Pritchard-Jones, Kathryn and Narod, Steven A and Stratton, Michael R

DOI: 10.1038/sj.onc.1201107

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

Nature genetics

Rahman, Nazneen and Arbour, Laura and Tonin, Patricia and Renshaw, Jane and Pelletier, Jerry and Baruchel, Sylvain and Pritchard-Jones, Kathryn and Stratton, Michael R and Narod, Steven A

DOI: 10.1038/ng0896-461

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

The Journal of pediatrics

Treacy, E and Arbour, L and Chessex, P and Graham, G and Kasprzak, L and Casey, K and Bell, L and Mamer, O and Scriver, CR

DOI: 10.1016/S0022-3476(96)70080-X

Multifactorial inheritance of non-syndromic macrocephaly

Clinical genetics

Arbour, L and Watters, GV and Hall, JG and Fraser, FC

DOI: 10.1111/j.1399-0004.1996.tb02349.x

Postoperative dystonia in a female patient with homocystinuria

The Journal of pediatrics

Arbour, Laura and Rosenblatt, Bernard and Clow, Carol and Wilson, Golder N

Silent Genomes: Reducing health-care disparities and improving diagnostic success for Indigenous children with genetic disease

Silent Genomes is a 4-year, Genome Canada and CIHR funded project with the goal of reducing health care disparities and improving diagnostic success for children with genetic diseases from Indigenous populations. The project emphasizes and promotes Indigenous-led governance, community engagement, community education, and student capacity building. It includes an international Indigenous Advisory Board, a cross-country team of clinicians and genetic counselors, local bioinformaticians, clinicians, and scientists with the collective goal of improving access and effectiveness of genetic diagnosis for Indigenous Children. Silent Genomes is partnered with the Assembly of First Nations, the First nations Health Authority, the Métis National Council, and Inuit Tapiriit Kanatami and includes 4 key activities:

-Activity 1: Integrating Indigenous-led governance, community engagement, community education, and student capacity building across all activities
-Activity 2: Precision genomic diagnosis of children with genetic disease
-Activity 3: Development of an Indigenous background variant library
-Activity 4: Economics of precision diagnosis for Indigenous children

The official website for the Silent Genomes project can be found here (https://www.bcchr.ca/silent-genomes-project).

Impact of Long QT Syndrome on First Nations people of Northern British Columbia

Inherited Long QT syndrome (LQTS), a potentially fatal condition, is recognized by a prolonged QT interval on an electrocardiogram (ECG) corrected for heart rate (QTc). To date, the project has enrolled over 800 Northern BC First Nations participants, and has identified over 140 people with the V205M mutation. The project has also identified 2 other variants, one that likely modifies the severity of the condition (KCNQ1 L353L), and another (ANK2 S646S) that causes LQTS (and other heart diseases) in those without the V205M. We are exploring these effects throughout the life course (from birth to old age), and we are also determining if additional genetic variants alone or in combination with other chronic diseases such as cardiovascular disease, increase the severity and result in a higher risk of death. The main goal overall is to determine how risk for LQTS can be identified and reduced.

First Nations (FN) arm of the Canadian Alliance for Healthy Hearts and Minds

The Gitxsan First Nation is one if the 8 FN communities that make up the First Nations Cohort of the Canadian Alliance for Healthy Hearts and Minds (referred to as the FN Alliance). Dr. Arbour is the site PI for the Gitxsan. The FN Alliance is a sub-cohort of a pan-Canadian, prospective, multi-ethnic research cohort of adults that examines determinants of cancer, dementia, and other chronic diseases (http://cahhm.mcmaster.ca). The established FN sub-cohort (goal: 2000 participants across Canada) from seven communities across Canada (BC to Nova Scotia) have provided health data (Magnetic Resonance Imaging of brain, heart, and abdomen), anthropometrics, dietary, community, lifestyle and other survey collections, as well as blood samples (~700 collected to date) for future research. Future proposed research requires a consultation process with the communities involved.

Infant and Child Health in Nunavut and the Role of the CPT1A P479L Variant

The p.P479L variant of CPT1A is very common in Inuit and coastal BC First Nations populations, with homozygosity rates of approximately 70% and 20%, respectively. Through previous studies, including research done in this laboratory, the variant has been found to be associated with infant death and infectious disease. In order to better understand the population implications of the p.P479L variant we have collected chart information on more than 2800 infants and children residing in Nunavut and linked the information to the P479L genotype.
This study is currently on-going to understand the role of the p.P479L variant on unexpected infant deaths and infant hospitalization for respiratory infection in the context of other contributors. Policy decisions on newborn screening, respiratory syncytial virus (RSV) vaccination, and public health prevention strategies are urgently needed and will be informed by study results.

For a more detailed breakdown of current and past projects, please visit https://www.uvic.ca/medsci/people/ubc/arbourlaura.php

Grants

When Rare Becomes Common: The impact of the AnkB p.S646F variant on heart disease in a Northern BC First Nation. CIHR 2020 – 2025 (Arbour, Laura T, Swayne, Leigh Anne)

Be FAIR and CARE: Operationalizing responsible Indigenous data sharing to benefit patients with rare diseases. CIHR 2020 – 2021 (Caron, Nadine R; Arbour, Laura T; Reading, Jeffrey L)

Silent Genomes: Reducing health care disparities and improving diagnostic success for children with genetic diseases from Indigenous populations. Genome Canada / CIHR 2018 – 2022 (Laura Arbour (Lead), Nadine Caron, Wyeth Wasserman (Co-Leads))

Long QT syndrome in Northern British Columbia: Gene-gene interaction, life course differences, and implications for safe management. CIHR 2017 – 2023 (Laura Arbour)

Honours & Awards

Founders Award for Career Achievement, Canadian College of Medical Genetics. 2022.

Distinguished Achievement for Service to the University and Community, University of British Columbia 2019 Faculty of Medicine Awards.

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