Roozbeh Manshaei

Toronto, ON M5B2K3, Canada

Last Updated: 09/26/2026

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Found 17 publications

A cardiovascular, craniofacial, and neurodevelopmental disorder caused by loss-of-function variants in the eIF3 complex component genes EIF3A and EIF3B.

A cardiovascular, craniofacial, and neurodevelopmental disorder caused by loss-of-function variants in the eIF3 complex component genes EIF3A and EIF3B.

Journal: American journal of human genetics

Published: February 12, 2026

Modelling DNA replication fork stability and collapse using chromatin fiber analysis and the R-ODD-BLOBS program.

Modelling DNA replication fork stability and collapse using chromatin fiber analysis and the R-ODD-BLOBS program.

Journal: bioRxiv : the preprint server for biology

Published: November 24, 2025

Analyzing DNA Replication Fork Stability and Collapse Using Chromatin Fiber Analysis and the R-ODD-BLOBS Program.

Analyzing DNA Replication Fork Stability and Collapse Using Chromatin Fiber Analysis and the R-ODD-BLOBS Program.

Journal: Computational and structural biotechnology journal

Published: November 06, 2025

A cardiovascular, craniofacial, and neurodevelopmental disorder caused by loss-of-function variants in the eIF3 complex component genes EIF3A and EIF3B.

A cardiovascular, craniofacial, and neurodevelopmental disorder caused by loss-of-function variants in the eIF3 complex component genes EIF3A and EIF3B.

Journal: American journal of human genetics

Published: April 07, 2025

Expanding the phenotypic spectrum of NOTCH1 variants: clinical manifestations in families with congenital heart disease.

Expanding the phenotypic spectrum of NOTCH1 variants: clinical manifestations in families with congenital heart disease.

Journal: European journal of human genetics : EJHG

Published: January 06, 2024

A call for increased inclusivity and global representation in pharmacogenetic testing.

A call for increased inclusivity and global representation in pharmacogenetic testing.

Journal: NPJ genomic medicine

Published: September 29, 2023

Gene copy number variation and pediatric mental health/neurodevelopment in a general population.

Gene copy number variation and pediatric mental health/neurodevelopment in a general population.

Journal: Human molecular genetics

Published: March 09, 2023

Comprehensive whole-genome sequence analyses provide insights into the genomic architecture of cerebral palsy.

Comprehensive whole-genome sequence analyses provide insights into the genomic architecture of cerebral palsy.

Journal: Nature genetics

Published: December 23, 2022

SCIP: software for efficient clinical interpretation of copy number variants detected by whole-genome sequencing.

SCIP: software for efficient clinical interpretation of copy number variants detected by whole-genome sequencing.

Journal: Human genetics

Published: May 26, 2022

Trio genome sequencing for developmental delay and pediatric heart conditions: A comparative microcost analysis.

Trio genome sequencing for developmental delay and pediatric heart conditions: A comparative microcost analysis.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: October 28, 2021

GeneTerpret: a customizable multilayer approach to genomic variant prioritization and interpretation.

GeneTerpret: a customizable multilayer approach to genomic variant prioritization and interpretation.

Journal: BMC medical genomics

Published: August 17, 2021

Assessment of the Implementation of Pharmacogenomic Testing in a Pediatric Tertiary Care Setting.

Assessment of the Implementation of Pharmacogenomic Testing in a Pediatric Tertiary Care Setting.

Journal: JAMA network open

Published: May 26, 2021

Showing 1-12 of 17

Last Updated: 09/26/2026