- Overview
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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.
- Publications
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The phenotype of MEGF8-related Carpenter syndrome (CRPT2) is refined through the identification of eight new patients
European Journal of Human Genetics
Laura M. Watts and Marta Bertoli and Tania ATTIE-BITACH and Natalie Roux and Antonio Rausell and Cate R. Paschal and Jessica L. Zambonin and Cynthia J. Curry and Blanche Martin and Rebecca S. Tooze and Lara Hawkes and Usha Kini and Stephen Twigg and Andrew Wilkie
DOI: 10.1038/s41431-024-01624-9
05/2024The practice of genomic medicine: A delineation of the process and its governing principles
Frontiers in Medicine
Handra, J. and Elbert, A. and Gazzaz, N. and Moller-Hansen, A. and Hyunh, S. and Lee, H.K. and Boerkoel, P. and Alderman, E. and Anderson, E. and Clarke, L. and Hamilton, S. and Hamman, R. and Hughes, S. and Ip, S. and Langlois, S. and Lee, M. and Li, L. and Mackenzie, F. and Patel, M.S. and Prentice, L.M. and Sangha, K. and Sato, L. and Seath, K. and Seppelt, M. and Swenerton, A. and Warnock, L. and Zambonin, J.L. and Boerkoel, C.F. and Chin, H.-L. and Armstrong, L.
DOI: 10.3389/fmed.2022.1071348
2023Further 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
DOI: 10.1002/ajmg.a.62936
11/2022Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentations
American Journal of Human Genetics
Hochberg, I. and Demain, L.A.M. and Richer, J. and Thompson, K. and Urquhart, J.E. and Rea, A. and Pagarkar, W. and Rodr{\'i}guez-Palmero, A. and Schl{\"u}ter, A. and Verdura, E. and Pujol, A. and Quijada-Fraile, P. and Amberger, A. and Deutschmann, A.J. and Demetz, S. and Gillespie, M. and Belyantseva, I.A. and McMillan, H.J. and Barzik, M. and Beaman, G.M. and Motha, R. and Ng, K.Y. and O{'}Sullivan, J. and Williams, S.G. and Bhaskar, S.S. and Lawrence, I.R. and Jenkinson, E.M. and Zambonin, J.L. and Blumenfeld, Z. and Yalonetsky, S. and Oerum, S. and Rossmanith, W. and Yue, W.W. and Zschocke, J. and Munro, K.J. and Battersby, B.J. and Friedman, T.B. and Taylor, R.W. and O{'}Keefe, R.T. and Newman, W.G.
DOI: 10.1016/j.ajhg.2021.10.002
2021Early 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
DOI: 10.1002/jimd.12278
PubMed: 32588908
06/2020A novel mutation in LAMC3 associated with generalized polymicrogyria of the cortex and epilepsy.
Neurogenetics
Zambonin JL and Dyment DA and Xi Y and Lamont RE and Hartley T and Miller E and Kerr M and Care4Rare Canada Consortium and Boycott KM and Parboosingh JS and Venkateswaran S
DOI: 10.1007/s10048-017-0534-4
PubMed: 29247375
12/2017Spinocerebellar 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
DOI: 10.1186/s13023-017-0672-7
PubMed: 28659154
06/2017Management of Simultaneous Symptomatic Bilateral Carotid Stenosis.
Zambonin JL and Pickett GE
DOI: 10.1017/cjn.2015.35
PubMed: 26063295
07/2015Loss 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
DOI: 10.1001/archneurol.2011.2167
PubMed: 22491194
04/2012Increased 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
DOI: 10.1093/brain/awr110
PubMed: 21705418
07/2011Injury 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
DOI: 10.1002/glia.21052
PubMed: 20665559
11/2010Identification and investigation of mitochondria lacking cytochrome c oxidase activity in axons.
Zambonin J and Engeham S and Campbell GR and Ziabreva I and Beadle NE and Taylor RW and Mahad DJ
DOI: 10.1016/j.jneumeth.2010.07.022
PubMed: 20659500
09/2010 - Research
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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.
BCCHR research could help set new international standard for young children receiving bone marrow transplants
The findings from a BCCHR study played a part in integrating the multiple breath washout test into recent recommendations to screen children for pulmonary chronic graft-versus-host disease, a lung complication that can affect children who undergo a bone marrow transplant.
