Sadegheh Haghshenas

London, ON, Canada

Last Updated: 09/26/2026

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Found 35 publications

Clinical, in vitro, and in vivo evidence of WAPL as a novel cohesinopathy gene and phenotypic driver of 10q22.3q23.2 genomic disorder.

Clinical, in vitro, and in vivo evidence of WAPL as a novel cohesinopathy gene and phenotypic driver of 10q22.3q23.2 genomic disorder.

Journal: medRxiv : the preprint server for health sciences

Published: March 11, 2026

Clinical, in vitro, and in vivo evidence of WAPL as a novel cohesinopathy gene and phenotypic driver of 10q22.3q23.2 genomic disorder.

Clinical, in vitro, and in vivo evidence of WAPL as a novel cohesinopathy gene and phenotypic driver of 10q22.3q23.2 genomic disorder.

Journal: medRxiv : the preprint server for health sciences

Published: March 11, 2026

Clinical, in vitro, and in vivo evidence of WAPL as a cohesinopathy-associated gene and phenotypic driver of 10q22.3q23.2 genomic disorder.

Clinical, in vitro, and in vivo evidence of WAPL as a cohesinopathy-associated gene and phenotypic driver of 10q22.3q23.2 genomic disorder.

Journal: American journal of human genetics

Published: February 15, 2026

DNA methylation signature and clinical delineation of PACS1-related disorder in 24 unreported individuals.

DNA methylation signature and clinical delineation of PACS1-related disorder in 24 unreported individuals.

Journal: European journal of human genetics : EJHG

Published: September 19, 2025

Biallelic inactivating variants in the chromatin remodeler DMAP1 cause a syndromic neurodevelopmental disorder.

Biallelic inactivating variants in the chromatin remodeler DMAP1 cause a syndromic neurodevelopmental disorder.

Journal: The Journal of clinical investigation

Published: July 23, 2025

Health Care Impact of Comprehensive Genomic Profiling of Solid Tumors in Patient Management Using POWER (Precision Oncology at Western University).

Health Care Impact of Comprehensive Genomic Profiling of Solid Tumors in Patient Management Using POWER (Precision Oncology at Western University).

Journal: The Journal of molecular diagnostics : JMD

Published: May 28, 2025

Health Care Impact of Comprehensive Genomic Profiling of Solid Tumors in Patient Management Using POWER (Precision Oncology at Western University).

Health Care Impact of Comprehensive Genomic Profiling of Solid Tumors in Patient Management Using POWER (Precision Oncology at Western University).

Journal: The Journal of molecular diagnostics : JMD

Published: May 28, 2025

Identification of an episignature for the MEF2C-associated syndrome.

Identification of an episignature for the MEF2C-associated syndrome.

Journal: European journal of human genetics : EJHG

Published: March 25, 2025

Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles.

Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles.

Journal: HGG advances

Published: September 22, 2024

CUL3-related neurodevelopmental disorder: Clinical phenotype of 20 new individuals and identification of a potential phenotype-associated episignature.

CUL3-related neurodevelopmental disorder: Clinical phenotype of 20 new individuals and identification of a potential phenotype-associated episignature.

Journal: HGG advances

Published: September 05, 2024

Identification of a DNA methylation episignature for recurrent constellations of embryonic malformations.

Identification of a DNA methylation episignature for recurrent constellations of embryonic malformations.

Journal: American journal of human genetics

Published: February 27, 2024

Discovery of DNA methylation signature in the peripheral blood of individuals with history of antenatal exposure to valproic acid.

Discovery of DNA methylation signature in the peripheral blood of individuals with history of antenatal exposure to valproic acid.

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

Published: February 15, 2024

Showing 1-12 of 35

Last Updated: 09/26/2026