Marta Szybowska

Toronto, ON, Canada

Last Updated: 09/26/2026

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Found 16 publications

Genomic and clinical characterization of a familial GIST kindred intolerant to imatinib.

Genomic and clinical characterization of a familial GIST kindred intolerant to imatinib.

Journal: NPJ genomic medicine

Published: August 08, 2023

Germline whole genome sequencing in adults with multiple primary tumors.

Germline whole genome sequencing in adults with multiple primary tumors.

Journal: Familial cancer

Published: January 18, 2023

Exome and genome sequencing in adults with undiagnosed disease: a prospective cohort study.

Exome and genome sequencing in adults with undiagnosed disease: a prospective cohort study.

Journal: Journal of medical genetics

Published: February 21, 2020

De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism.

De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism.

Journal: American journal of human genetics

Published: February 13, 2020

Epidermal growth factor receptor deficiency: Expanding the phenotype beyond infancy.

Epidermal growth factor receptor deficiency: Expanding the phenotype beyond infancy.

Journal: The Journal of dermatology

Published: October 07, 2019

Adult patient perspectives on phenylketonuria care: Highlighting the need for dedicated adult management and services.

Adult patient perspectives on phenylketonuria care: Highlighting the need for dedicated adult management and services.

Journal: European journal of medical genetics

Published: April 11, 2019

Comprehensive characterization of a Canadian cohort of von Hippel-Lindau disease patients.

Comprehensive characterization of a Canadian cohort of von Hippel-Lindau disease patients.

Journal: Clinical genetics

Published: April 11, 2019

Neuroendocrine Neoplasms Associated with Germline Pathogenic Variants in the Homologous Recombination Pathway.

Neuroendocrine Neoplasms Associated with Germline Pathogenic Variants in the Homologous Recombination Pathway.

Journal: Endocrine pathology

Published: February 18, 2019

Intrathyroidal Parathyroid Carcinoma: An Atypical Thyroid Lesion.

Intrathyroidal Parathyroid Carcinoma: An Atypical Thyroid Lesion.

Journal: Frontiers in endocrinology

Published: July 20, 2018

Reappraisal of Reported Genes for Sudden Arrhythmic Death: Evidence-Based Evaluation of Gene Validity for Brugada Syndrome.

Reappraisal of Reported Genes for Sudden Arrhythmic Death: Evidence-Based Evaluation of Gene Validity for Brugada Syndrome.

Journal: Circulation

Published: July 01, 2018

Mutations That Alter the Carboxy-Terminal-Propeptide Cleavage Site of the Chains of Type I Procollagen Are Associated With a Unique Osteogenesis Imperfecta Phenotype.

Mutations That Alter the Carboxy-Terminal-Propeptide Cleavage Site of the Chains of Type I Procollagen Are Associated With a Unique Osteogenesis Imperfecta Phenotype.

Journal: Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research

Published: December 11, 2017

Natural history and genotype-phenotype correlations in 72 individuals with SATB2-associated syndrome.

Natural history and genotype-phenotype correlations in 72 individuals with SATB2-associated syndrome.

Journal: American journal of medical genetics. Part A

Published: October 31, 2017

Showing 1-12 of 16

Last Updated: 09/26/2026