My research involves investigating new technologies for use in clinical genetic testing. I am also interested in identifying novel genetic variants in families with rare diseases.


Burden of Common Complex Disease Variants in the Exomes of Two Healthy Centenarian Brothers.
Tindale LC and Zeng A and Bretherick KL and Leach S and Thiessen N and Brooks-Wilson AR
DOI: 10.1159/000430462
PubMed: 26066993

Functional characterization of genetic polymorphisms in the H2AFX distal promoter.
Bretherick KL and Leach S and Brooks-Wilson AR
DOI: 10.1016/j.mrfmmm.2014.05.012
PubMed: 25847270

Sex- and subtype-specific analysis of H2AFX polymorphisms in non-Hodgkin lymphoma.
Bretherick KL and Schuetz JM and Morton LM and Purdue MP and Conde L and Gallagher RP and Connors JM and Gascoyne RD and Berry BR and Armstrong B and Kricker A and Vajdic CM and Grulich A and Hjalgrim H and Smedby KE and Skibola CF and Rothman N and Spinelli JJ and Brooks-Wilson AR
DOI: 10.1371/journal.pone.0074619
PubMed: 24069324

Genetic polymorphisms at TIMP3 are associated with survival of adenocarcinoma of the gastroesophageal junction.
Bashash M and Shah A and Hislop G and Treml M and Bretherick K and Janoo-Gilani R and Leach S and Le N and Bajdik C and Brooks-Wilson A
DOI: 10.1371/journal.pone.0059157
PubMed: 23527119

Elevated circulating t(14;18) translocation levels prior to diagnosis of follicular lymphoma.
Bretherick KL and Bu R and Gascoyne RD and Connors JM and Spinelli JJ and Brooks-Wilson AR
DOI: 10.1182/blood-2010-08-304048
PubMed: 21183699

Genetic variation within the hypothalamus-pituitary-ovarian axis in women with recurrent miscarriage.
Hanna CW and Bretherick KL and Liu CC and Stephenson MD and Robinson WP
DOI: 10.1093/humrep/deq211
PubMed: 20716560

Fertility and aging: do reproductive-aged Canadian women know what they need to know?
Bretherick KL and Fairbrother N and Avila L and Harbord SH and Robinson WP
DOI: 10.1016/j.fertnstert.2009.01.064
PubMed: 19296943

Telomere length and reproductive aging.
Hanna CW and Bretherick KL and Gair JL and Fluker MR and Stephenson MD and Robinson WP
DOI: 10.1093/humrep/dep007
PubMed: 19202142

Estrogen receptor alpha gene polymorphisms are associated with idiopathic premature ovarian failure.
Bretherick KL and Hanna CW and Currie LM and Fluker MR and Hammond GL and Robinson WP
DOI: 10.1016/j.fertnstert.2007.03.008
PubMed: 17706202

Skewed X-chromosome inactivation is associated with primary but not secondary ovarian failure.
Bretherick KL and Metzger DL and Chanoine JP and Panagiotopoulos C and Watson SK and Lam WL and Fluker MR and Brown CJ and Robinson WP
DOI: 10.1002/ajmg.a.31679
PubMed: 17431892

FMR1 repeat sizes in the gray zone and high end of the normal range are associated with premature ovarian failure.
Bretherick KL and Fluker MR and Robinson WP
DOI: 10.1007/s00439-005-1326-8
PubMed: 16078053

The association of skewed X chromosome inactivation with aneuploidy in humans.
Bretherick K and Gair J and Robinson WP
DOI: 10.1159/000086898
PubMed: 16192703


Current Projects
My current research focuses on the validation and implementation of new technologies for clinical genetic testing. We are currently evaluating next generation sequencing (NGS) platforms for use in the clinical lab. While traditional genetic testing methods sequence only one gene at a time, NGS technology enables examination of multiple genes, or even all in the genes in the genome, with a single test. This allows fast and accurate diagnosis of conditions where a specific gene defect is suspected and may also be used to identify the genetic causes of conditions when the specific gene is not known. Implementing NGS testing in the Molecular Genetics Lab will allow us to improve and expand the scope of clinical genetic testing available in BC.

Implementation of NGS technologies allows discovery of disease genes in families with rare diseases for which a diagnosis cannot be determined. Identifying genetic causes for rare diseases in families will alleviate uncertainty of diagnosis, provide basis for genetic counselling regarding family planning and may provide insight into therapy and treatment.


2013 Rare Disease Foudnation Microgrant. Castleman Disease

2013 Rare Disease Foundation Microgrant. Hairy Cell Leukemia