Ayeshah Chaudhry

Toronto, ON, Canada

Last Updated: 09/26/2026

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Found 9 publications

Extending the phenotypes associated with TRIO gene variants in a cohort of 25 patients and review of the literature.

Extending the phenotypes associated with TRIO gene variants in a cohort of 25 patients and review of the literature.

Journal: American journal of medical genetics. Part A

Published: December 02, 2022

DNA Methylation Signature for JARID2-Neurodevelopmental Syndrome.

DNA Methylation Signature for JARID2-Neurodevelopmental Syndrome.

Journal: International journal of molecular sciences

Published: June 16, 2022

Pathogenic TRIO variants associated with neurodevelopmental disorders perturb the molecular regulation of TRIO and axon pathfinding in vivo.

Pathogenic TRIO variants associated with neurodevelopmental disorders perturb the molecular regulation of TRIO and axon pathfinding in vivo.

Journal: Molecular psychiatry

Published: June 15, 2022

JARID2 haploinsufficiency is associated with a clinically distinct neurodevelopmental syndrome.

JARID2 haploinsufficiency is associated with a clinically distinct neurodevelopmental syndrome.

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

Published: June 11, 2020

Agenesis of the corpus callosum, developmental delay, autism spectrum disorder, facial dysmorphism, and posterior polymorphous corneal dystrophy associated with ZEB1 gene deletion.

Agenesis of the corpus callosum, developmental delay, autism spectrum disorder, facial dysmorphism, and posterior polymorphous corneal dystrophy associated with ZEB1 gene deletion.

Journal: American journal of medical genetics. Part A

Published: November 09, 2016

Whole Genome Sequencing Expands Diagnostic Utility and Improves Clinical Management in Pediatric Medicine.

Whole Genome Sequencing Expands Diagnostic Utility and Improves Clinical Management in Pediatric Medicine.

Journal: NPJ genomic medicine

Published: January 13, 2016

Whole exome sequencing identified 1 base pair novel deletion in BCL2-associated athanogene 3 (BAG3) gene associated with severe dilated cardiomyopathy (DCM) requiring heart transplant in multiple family members.

Whole exome sequencing identified 1 base pair novel deletion in BCL2-associated athanogene 3 (BAG3) gene associated with severe dilated cardiomyopathy (DCM) requiring heart transplant in multiple family members.

Journal: American journal of medical genetics. Part A

Published: December 03, 2015

Heterozygous mutations in ERF cause syndromic craniosynostosis with multiple suture involvement.

Heterozygous mutations in ERF cause syndromic craniosynostosis with multiple suture involvement.

Journal: American journal of medical genetics. Part A

Published: March 31, 2015

Standardized Procedural Practices of the Ontario Prenatal Screening Program for aneuploidies and open neural tube defects.

Standardized Procedural Practices of the Ontario Prenatal Screening Program for aneuploidies and open neural tube defects.

Journal: Clinical biochemistry

Published: March 26, 2012

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Last Updated: 09/26/2026