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Jessica Zambonin

MD

Investigator and Clinical Geneticist, BC Children's Hospital

I'm a clinical geneticist and researcher based at BC Children’s Hospital with a focus on prenatal diagnosis for fetuses with structural anomalies. My work centers on the clinical implementation and impact of genome-wide sequencing, particularly exome sequencing, in the prenatal setting. I’m building a research program that explores the diagnostic yield, clinical utility, and follow-up practices for prenatal exome sequencing with a goal to generate real-world evidence on the long-term impact of prenatal testing to inform clinical pathways, reanalysis practices, and policy decisions across prenatal and pediatric care.

Additionally, as a clinical geneticist, I am interested in the identification and characterization of rare genetic conditions to improve patient care.

Academic Affiliations

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

Contact Information

Location

4500 Oak Street, Vancouver, British Columbia, Canada, V6H 3N1

Clinical outcomes after nondiagnostic prenatal exome sequencing: Need for balancing reassurance and residual risks in genetic counseling

Journal of Genetic Counseling

Sophie Albert and Anne Swenerton and Kirsten M. Niles and Sylvie Langlois and Jessica L. Zambonin

DOI: 10.1002/jgc4.70190

04 / 2026

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 / 2024

The 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

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

DOI: 10.1002/ajmg.a.62936

11 / 2022

Bi-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

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

DOI: 10.1002/jimd.12278 PubMed: 32588908

06 / 2020

A 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 / 2017

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

DOI: 10.1186/s13023-017-0672-7 PubMed: 28659154

06 / 2017

Management of Simultaneous Symptomatic Bilateral Carotid Stenosis.

Zambonin JL and Pickett GE

DOI: 10.1017/cjn.2015.35 PubMed: 26063295

07 / 2015

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

DOI: 10.1001/archneurol.2011.2167 PubMed: 22491194

04 / 2012

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

DOI: 10.1093/brain/awr110 PubMed: 21705418

07 / 2011

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

DOI: 10.1002/glia.21052 PubMed: 20665559

11 / 2010

Identification 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

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.

Our Research

At BC Children’s, we are making discoveries that save lives and transform health care for children in our province and around the world. Our research portfolio includes basic, clinical, population, and public health research.

EXPLORE OUR RESEARCH

Jessica Zambonin

MD

Investigator and Clinical Geneticist, BC Children's Hospital

Academic Affiliations

Contact Information

Location

Publications

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Clinical outcomes after nondiagnostic prenatal exome sequencing: Need for balancing reassurance and residual risks in genetic counseling

The phenotype of MEGF8-related Carpenter syndrome (CRPT2) is refined through the identification of eight new patients

The practice of genomic medicine: A delineation of the process and its governing principles

Further clinical delineation of microcephaly-capillary malformation syndrome

Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentations

Early infantile epileptic encephalopathy due to biallelic pathogenic variants in PIGQ: Report of seven new subjects and review of the literature.

A novel mutation in LAMC3 associated with generalized polymicrogyria of the cortex and epilepsy.

Spinocerebellar ataxia type 29 due to mutations in ITPR1: a case series and review of this emerging congenital ataxia.

Management of Simultaneous Symptomatic Bilateral Carotid Stenosis.

Loss of myelin-associated glycoprotein in kearns-sayre syndrome.

Increased mitochondrial content in remyelinated axons: implications for multiple sclerosis.

Injury and differentiation following inhibition of mitochondrial respiratory chain complex IV in rat oligodendrocytes.

Identification and investigation of mitochondria lacking cytochrome c oxidase activity in axons.

Research

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Angelman Syndrome Natural History Study

Our Research

Contact

Our Research

Training

Services

Organization

Jessica Zambonin

MD

Investigator and Clinical Geneticist, BC Children's Hospital

Academic Affiliations

Contact Information

Location

Publications

Collapse

Expand

Clinical outcomes after nondiagnostic prenatal exome sequencing: Need for balancing reassurance and residual risks in genetic counseling

The phenotype of MEGF8-related Carpenter syndrome (CRPT2) is refined through the identification of eight new patients

The practice of genomic medicine: A delineation of the process and its governing principles

Further clinical delineation of microcephaly-capillary malformation syndrome

Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentations

Early infantile epileptic encephalopathy due to biallelic pathogenic variants in PIGQ: Report of seven new subjects and review of the literature.

A novel mutation in LAMC3 associated with generalized polymicrogyria of the cortex and epilepsy.

Spinocerebellar ataxia type 29 due to mutations in ITPR1: a case series and review of this emerging congenital ataxia.

Management of Simultaneous Symptomatic Bilateral Carotid Stenosis.

Loss of myelin-associated glycoprotein in kearns-sayre syndrome.

Increased mitochondrial content in remyelinated axons: implications for multiple sclerosis.

Injury and differentiation following inhibition of mitochondrial respiratory chain complex IV in rat oligodendrocytes.

Identification and investigation of mitochondria lacking cytochrome c oxidase activity in axons.

Research

Collapse

Expand

Angelman Syndrome Natural History Study

Our Research

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Contact

Our Research

Training

Services

Organization