Ricardo S. Harripaul

Toronto, ON, Canada

Last Updated: 09/26/2026

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Found 36 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

RELN biallelic variant as a candidate risk factor in a consanguineous Pakistani family with bipolar disorder and clinical heterogeneity.

RELN biallelic variant as a candidate risk factor in a consanguineous Pakistani family with bipolar disorder and clinical heterogeneity.

Journal: Journal of affective disorders

Published: January 26, 2026

Aberrant recursive splicing in a human disease locus.

Aberrant recursive splicing in a human disease locus.

Journal: bioRxiv : the preprint server for biology

Published: September 08, 2025

Autism spectrum disorder trios from consanguineous populations are enriched for rare homozygous variants, identifying 32 new candidate genes.

Autism spectrum disorder trios from consanguineous populations are enriched for rare homozygous variants, identifying 32 new candidate genes.

Journal: Scientific reports

Published: June 12, 2025

Author Correction: Transcriptome analysis in a humanized mouse model of familial dysautonomia reveals tissue-specific gene expression disruption in the peripheral nervous system.

Author Correction: Transcriptome analysis in a humanized mouse model of familial dysautonomia reveals tissue-specific gene expression disruption in the peripheral nervous system.

Journal: Scientific reports

Published: May 02, 2024

When rare meets common: Treatable genetic diseases are enriched in the general psychiatric population.

When rare meets common: Treatable genetic diseases are enriched in the general psychiatric population.

Journal: American journal of medical genetics. Part A

Published: November 02, 2023

Transcriptome analysis in a humanized mouse model of familial dysautonomia reveals tissue-specific gene expression disruption in the peripheral nervous system.

Transcriptome analysis in a humanized mouse model of familial dysautonomia reveals tissue-specific gene expression disruption in the peripheral nervous system.

Journal: Scientific reports

Published: October 31, 2023

Transcriptome analysis in a humanized mouse model of familial dysautonomia reveals tissue-specific gene expression disruption in the peripheral nervous system.

Transcriptome analysis in a humanized mouse model of familial dysautonomia reveals tissue-specific gene expression disruption in the peripheral nervous system.

Journal: bioRxiv : the preprint server for biology

Published: October 09, 2023

Biallelic variants identified in 36 Pakistani families and trios with autism spectrum disorder.

Biallelic variants identified in 36 Pakistani families and trios with autism spectrum disorder.

Journal: Scientific reports

Published: August 30, 2023

Biallelic Loss of Function Mutation in Sodium Channel Gene SCN10A in an Autism Spectrum Disorder Trio from Pakistan.

Biallelic Loss of Function Mutation in Sodium Channel Gene SCN10A in an Autism Spectrum Disorder Trio from Pakistan.

Journal: Genes

Published: August 02, 2022

Showing 1-12 of 36

Last Updated: 09/26/2026