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 northern and aboriginal 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 aboriginal 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. Her research has been funded through the Canadian Institutes for Health Research since 2003. She has published on infant mortality, congenital malformations, and other determinants of adverse birth outcomes in Northern and mainstream populations as well as on inherited arrhythmias in all age groups.


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

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

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 santé publique
DOI: 10.17269/s41997-018-0085-y

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

Pregnancy outcomes of women with spina bifida
Disability and rehabilitation
DOI: 10.1080/09638288.2018.1425920

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

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

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

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

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

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

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-Profitós, Jessica and Lowe, Anne-Marie and Arbour, Laura
DOI: 10.1136/archdischild-2016-311199

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 Andrés León, Juan and Luo, Wei
DOI: 10.1080/10408444.2016.1211090

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

Pre-eclampsia and risk of infantile haemangioma
British Journal of Dermatology
Auger, N and Fraser, WD and Arbour, L and Healy-Profitós, J and Drolet, BA
DOI: 10.1111/bjd.14958

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

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

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

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

Association between preeclampsia and congenital heart defects
Auger, Nathalie and Fraser, William D and Healy-Profitós, Jessica and Arbour, Laura
DOI: 10.1001/jama.2015.12505

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

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

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

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

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

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

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

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

Beckwith–Wiedemann syndrome in sibs discordant for IC2 methylation
American Journal of Medical Genetics Part A
Niederhoffer, Karen Y and Peñaherrera, 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

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

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

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

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

Human health and the ends of the earth
Rural and Remote Health
Arbour, L and Parkinson, A and Kulig, JC

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

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

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, Christèle 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

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

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

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

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

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, Christèle 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

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 Séguin, 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

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

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

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 Columbia’s 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, Ágnes 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

Autoimmune liver disease and the Canadian First Nations aboriginal communities of British Columbia’s Pacific Northwest
World Journal of Gastroenterology
Yoshida, Eric M and Riley, Mark and Arbour, Laura T
DOI: 10.3748/wjg.v12.i23.3625

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

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

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

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

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

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

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 Columbia’s 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

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

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

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, Gökhan 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

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

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

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)9999:9999<::aid-ajmg1173>3.0.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

Indications for Liver Tranplantation in British Columbia’s 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

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 Bonai¨ti-Pellié, 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

Intrauterine exposure to clomiphene and neonatal persistent hyperplastic primary vitreous
Bishai, R and Arbour, L and Lyons, C and Koren, G
DOI: 10.1002/(SICI)1096-9926(199909)60:33.0.CO;2-#

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)84:23.0.CO;2-T

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

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
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

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

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

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

Postoperative dystonia in a female patient with homocystinuria
The Journal of pediatrics
Arbour, Laura and Rosenblatt, Bernard and Clow, Carol and Wilson, Golder N


Current Project
A partnership approach to informing the prevention of infant mortality and childhood respiratory illness in Nunavut: Nunavut leads the country for adverse early child health outcomes, in particular, rates of infant hospitalisations (>300/1000) for respiratory infections and infant mortality rates four times greater than the rest of the country. In our 1999-2008 review of IM cases the leading causes were sudden unexpected death and respiratory infection. We also showed in preliminary studies that Nunavut infants with a gene variant important in the way fat is used for energy (CPT1A P479L) had a fivefold greater risk of sudden death or death due to infection. Paradoxically, we also showed this gene variant is common in Nunavut infants (>60%) suggesting protection historically, perhaps with a diet high in fat but low in sugars. In the context of other contributors to infant mortality, we are exploring the effect of the CPT1A variant on early Inuit health. We also aim to develop a profile of infants most likely to present with lung infection and determine which infants are at greatest risk for severe decompensation. Based on evidence we will optimize the vaccination protocols locally for a sometimes detrimental virus, RSV, and assess effectiveness of the program. Our partnership with Health and Social Services, Nunavut Tunngavik Inc, Qaujigiartiit Health Research Centre provide a unique opportunity with local input to address these priorities. The over-arching goal is to obtain evidence to determine which modifiable risk factors affect infant health in the most detrimental way. Policy decisions on RSV vaccine, newborn screening and public health prevention strategies are urgently needed and will be informed with these results.

Long QT Syndrome in Northern British Columbia; Predicting Risk for sudden death: Inherited Long QT syndrome (LQTS), a potentially fatal condition, is recognized by a prolonged QT interval on electrocardiogram (EGG) corrected for heart rate (QTc). A prolonged QTc increases the risk of serious heart rhythm disturbances which may lead to cardiac arrest. Variants in numerous genes important in heart rhythm are known to cause LQTS. Usually rare (about 1/2000), LQTS is common (1/125) in First Nations people of Northern BC mainly because of a specific mutation called V205M, dating back several generations. Although many with the V205M mutation clearly have the condition and have died with it, others have lived long lives without event. In LQTS, disease severity varies broadly and risk is difficult to predict. Part of the variability may be explained by non-genetic and also by other minor gene changes, called variants. To date, we have enrolled over 800 Northern BC First Nations participants in our study, and have identified over 100 people with the V205M mutation. We have also identified 2 other variants that likely modify the severity of the condition, 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 are also determining if additional genetic variants alone or in combination with other chronic diseases such as cardiovascular disease, increase the severity resulting in a higher risk of death. The main goal over all, is to determine how risk for LQTS can be identified and reduced.


2013/1 - 2016/12 Co-investigator Cardiac Vascular and Cognitive Dysfunction (CVCD) Alliance Multicentre Project Principal Investigator : Ananda, Sonia (project leader); Friedrich, Matthias (Co-leader); Tu, Jack Canadian Partnership Against Cancer, Canadian Partnership for Tomorrow Total Funding - $16,061,500

2014/10 - 2015/9 Co-investigator, Aboriginal Birth Cohort (ABC) Project, Co-investigator: ANGLIN, Rebecca; BEYENE, Joseph; BRUCE, Sharon Gail, GITTELSOHN, Joel; MCDONALD, Sarah Diana; Principal Investigator: ANAND, Sonia Savitri; TOTH, Ellen Louise; WAHI, Gita, Canadian Institutes of Health Research (CIHR) - $100,000 (Canadian dollar)

2015/7 - 2016/6 Principal Investigator, Long QT Syndrome in British Columbia: Predicting Risk for Sudden Death Co-investigator: Andrew Krahn; Anthony Tang; Leigh Anne Swayne; Roderick McCormick: Canadian Institutes of Health Research (CIHR), Transitional Operating Grant: 2015-2016 - $100,000

2010/9 - 2015/8, Principal Investigator, Co-investigator: Leigh Field; Roderick McCormick; co-Principal Investigator: Anthony Tang, Canadian Institutes of Health Research (CIHR) $ 645,866.

2017/1 - 2021/12 Principal Applicant (with 57 other researchers), A systems approach for enhancing perinatal care regionalization, Nominated Principal Applicant : KS Joseph Canadian Institutes of Health Research Total $ 1,000,000

2012/4 - 2018/3 Principal Investigator, Nutaqqavut (Our Children) Health Information System: A partnership approach to informing the prevention of infant mortality and childhood respiratory illness in Nunavut. Co-applicant : Cheryl Greeenberg; Geraldine Osborne;, A. Sheppard; G. Healey Canadian Institutes of Health Research (CIHR), Partnerships for Health Systems Improvement (PHSI). Total Funding - 349,497 (Canadian dollar)

Research Group Members

Sarah McIntosh, Administrative Assistatnt, Genetic Counsellor