It is clear that advances in genetic testing have been transformative for the field of Medical Genetics in the last decade; however, service delivery models have not adapted, leading to an imbalance between knowledge acquisition and translation to clinical practice. I have an evolving research interest in the implementation of genomic sequencing into the health care system through efficient and sustainable service delivery models, for the benefits of patients living with rare disease. Additionally, as a clinical geneticist, I am interested in the identification and characterization of rare genetic conditions to improve patient care.
The practice of genomic medicine: A delineation of the process and its governing principles
Frontiers in Medicine
Julia Handra and Adrienne Elbert and Nour Gazzaz and Ashley Moller-Hansen and Stephanie Hyunh and Hyun Kyung Lee and Pierre Boerkoel and Emily Alderman and Erin Anderson and Lorne Clarke and Sara Hamilton and Ronnalea Hamman and Shevaun Hughes and Simon Ip and Sylvie Langlois and Mary Lee and Laura Li and Frannie Mackenzie and Millan S. Patel and Leah M. Prentice and Karan Sangha and Laura Sato and Kimberly Seath and Margaret Seppelt and Anne Swenerton and Lynn Warnock and Jessica L. Zambonin and Cornelius F. Boerkoel and Hui-Lin Chin and Linlea Armstrong
Further clinical delineation of microcephaly-capillary malformation syndrome
American Journal of Medical Genetics Part A
Julianne K. Postma and Jessica L. Zambonin and Ebtissal Khouj and Suad Alyamani and John M. Graham, Jr and Fowzan S. Alkuraya and Stephen Kundell and Melissa T. Carter
Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentations.
American journal of human genetics
Early infantile epileptic encephalopathy due to biallelic pathogenic variants in PIGQ: Report of seven new subjects and review of the literature.
Journal of inherited metabolic disease
A novel mutation in LAMC3 associated with generalized polymicrogyria of the cortex and epilepsy
Zambonin, J.L. and Dyment, D.A. and Xi, Y. and Lamont, R.E. and Hartley, T. and Miller, E. and Kerr, M. and Boycott, K.M. and Parboosingh, J.S. and Venkateswaran, S.
Spinocerebellar ataxia type 29 due to mutations in ITPR1: a case series and review of this emerging congenital ataxia.
Zambonin JL and Bellomo A and Ben-Pazi H and Everman DB and Frazer LM and Geraghty MT and Harper AD and Jones JR and Kamien B and Kernohan K and Koenig MK and Lines M and Palmer EE and Richardson R and Segel R and Tarnopolsky M and Vanstone JR and Gibbons M and Collins A and Boycott KM
Loss of myelin-associated glycoprotein in kearns-sayre syndrome.
Lax NZ and Campbell GR and Reeve AK and Ohno N and Zambonin J and Blakely EL and Taylor RW and Bonilla E and Tanji K and DiMauro S and Jaros E and Lassmann H and Turnbull DM and Mahad DJ
Increased mitochondrial content in remyelinated axons: implications for multiple sclerosis.
Zambonin JL and Zhao C and Ohno N and Campbell GR and Engeham S and Ziabreva I and Schwarz N and Lee SE and Frischer JM and Turnbull DM and Trapp BD and Lassmann H and Franklin RJ and Mahad DJ
Injury and differentiation following inhibition of mitochondrial respiratory chain complex IV in rat oligodendrocytes.
Ziabreva I and Campbell G and Rist J and Zambonin J and Rorbach J and Wydro MM and Lassmann H and Franklin RJ and Mahad D
Angelman Syndrome Natural History Study
I am a co-investigator in a collaborative effort with members of the Angelman Syndrome clinic at BC Children's Hospital. This study aims to understand the progression of symptoms associated with Angelman syndrome throughout and individual's lifetime.