Jessica L. Zambonin

Vancouver, BC, Canada

Last Updated: 09/26/2026

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Found 11 publications

Beyond the Negative: Insights From Postnatal Medical Genetics Follow-Up After Nondiagnostic Prenatal Exome Sequencing.

Beyond the Negative: Insights From Postnatal Medical Genetics Follow-Up After Nondiagnostic Prenatal Exome Sequencing.

Journal: Prenatal diagnosis

Published: March 31, 2026

Combined Long-Read Genome and Transcriptome Sequencing Establishes Novel Variants in MEGF8 as the Cause for Carpenter Syndrome Type 2.

Combined Long-Read Genome and Transcriptome Sequencing Establishes Novel Variants in MEGF8 as the Cause for Carpenter Syndrome Type 2.

Journal: American journal of medical genetics. Part A

Published: November 24, 2025

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

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

Journal: Journal of genetic counseling

Published: October 31, 2025

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

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

Journal: European journal of human genetics : EJHG

Published: January 18, 2024

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

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

Journal: Frontiers in medicine

Published: October 16, 2022

Further clinical delineation of microcephaly-capillary malformation syndrome.

Further clinical delineation of microcephaly-capillary malformation syndrome.

Journal: American journal of medical genetics. Part A

Published: January 03, 2022

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

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

Journal: American journal of human genetics

Published: August 24, 2021

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

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

Journal: Journal of inherited metabolic disease

Published: March 11, 2020

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

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

Journal: Neurogenetics

Published: September 27, 2017

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

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

Journal: Orphanet journal of rare diseases

Published: November 14, 2016

Management of Simultaneous Symptomatic Bilateral Carotid Stenosis.

Management of Simultaneous Symptomatic Bilateral Carotid Stenosis.

Journal: The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques

Published: June 12, 2015

Showing 1-11 of 11

Last Updated: 09/26/2026