Marjan M. Nezarati

Toronto, ON, Canada

Last Updated: 09/26/2026

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Found 14 publications

An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome.

An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome.

Journal: American journal of human genetics
Published: August 08, 2025

Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome.

Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome.

Journal: American journal of human genetics
Published: April 01, 2024

The detection of a strong episignature for Chung-Jansen syndrome, partially overlapping with Börjeson-Forssman-Lehmann and White-Kernohan syndromes.

The detection of a strong episignature for Chung-Jansen syndrome, partially overlapping with Börjeson-Forssman-Lehmann and White-Kernohan syndromes.

Journal: Human genetics
Published: December 14, 2023

An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome.

An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome.

Journal: American journal of human genetics
Published: May 27, 2022

New cases that expand the genotypic and phenotypic spectrum of Congenital NAD Deficiency Disorder.

New cases that expand the genotypic and phenotypic spectrum of Congenital NAD Deficiency Disorder.

Journal: Human mutation
Published: November 30, 2020

MEIS2 sequence variant in a child with intellectual disability and cardiac defects: Expansion of the phenotypic spectrum and documentation of low-level mosaicism in an unaffected parent.

MEIS2 sequence variant in a child with intellectual disability and cardiac defects: Expansion of the phenotypic spectrum and documentation of low-level mosaicism in an unaffected parent.

Journal: American journal of medical genetics. Part A
Published: April 08, 2020

Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy.

Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy.

Journal: Human mutation
Published: July 23, 2019

An Additional Individual with a De Novo Variant in Myelin Regulatory Factor (MYRF) with Cardiac and Urogenital Anomalies: Further Proof of Causality: Comments on the article by Pinz et al. ().

An Additional Individual with a De Novo Variant in Myelin Regulatory Factor (MYRF) with Cardiac and Urogenital Anomalies: Further Proof of Causality: Comments on the article by Pinz et al. ().

Journal: American journal of medical genetics. Part A
Published: January 26, 2018

Prenatal presentation of hereditary hemorrhagic telangiectasia - a report of two sibs.

Prenatal presentation of hereditary hemorrhagic telangiectasia - a report of two sibs.

Journal: Prenatal diagnosis
Published: March 23, 2016

De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy.

De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy.

Journal: Journal of medical genetics
Published: March 17, 2016

Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases.

Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases.

Journal: European journal of human genetics : EJHG
Published: December 08, 2013

Dyssegmental dysplasia, Silverman-Handmaker type: prenatal ultrasound findings and molecular analysis.

Dyssegmental dysplasia, Silverman-Handmaker type: prenatal ultrasound findings and molecular analysis.

Journal: Prenatal diagnosis
Published: March 29, 2013
Showing 1-12 of 14

Last Updated: 09/26/2026