Muhammad A. Rafiq

Room 1725D, 555 University Avenue
Toronto, ON, Canada

Last Updated: 09/26/2026

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Found 15 publications

Mapping the inter- and intra-genic codon-usage landscape in Homo sapiens.

Mapping the inter- and intra-genic codon-usage landscape in Homo sapiens.

Journal: NAR genomics and bioinformatics

Published: September 22, 2025

A Novel Protein NAB1-356 Encoded by circRNA circNAB1 Mitigates Atrial Fibrillation by Reducing Inflammation and Fibrosis.

A Novel Protein NAB1-356 Encoded by circRNA circNAB1 Mitigates Atrial Fibrillation by Reducing Inflammation and Fibrosis.

Journal: Advanced science (Weinheim, Baden-Wurttemberg, Germany)

Published: September 26, 2024

KIF1A novel frameshift variant p.(Ser887Profs*64) exhibits clinical heterogeneity in a Pakistani family with hereditary sensory and autonomic neuropathy type IIC.

KIF1A novel frameshift variant p.(Ser887Profs*64) exhibits clinical heterogeneity in a Pakistani family with hereditary sensory and autonomic neuropathy type IIC.

Journal: The International journal of neuroscience

Published: October 25, 2022

PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families.

PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families.

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

Published: April 08, 2022

PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families.

PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families.

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

Published: February 28, 2021

An autoantibody identifies arrhythmogenic right ventricular cardiomyopathy and participates in its pathogenesis.

An autoantibody identifies arrhythmogenic right ventricular cardiomyopathy and participates in its pathogenesis.

Journal: European heart journal

Published: April 09, 2018

Mutations in the genes for thyroglobulin and thyroid peroxidase cause thyroid dyshormonogenesis and autosomal-recessive intellectual disability.

Mutations in the genes for thyroglobulin and thyroid peroxidase cause thyroid dyshormonogenesis and autosomal-recessive intellectual disability.

Journal: Journal of human genetics

Published: December 10, 2015

Mutations in DCPS and EDC3 in autosomal recessive intellectual disability indicate a crucial role for mRNA decapping in neurodevelopment.

Mutations in DCPS and EDC3 in autosomal recessive intellectual disability indicate a crucial role for mRNA decapping in neurodevelopment.

Journal: Human molecular genetics

Published: December 15, 2014

Novel VPS13B Mutations in Three Large Pakistani Cohen Syndrome Families Suggests a Baloch Variant with Autistic-Like Features.

Novel VPS13B Mutations in Three Large Pakistani Cohen Syndrome Families Suggests a Baloch Variant with Autistic-Like Features.

Journal: BMC medical genetics

Published: December 03, 2014

Homozygosity mapping of autosomal recessive intellectual disability loci in 11 consanguineous Pakistani families.

Homozygosity mapping of autosomal recessive intellectual disability loci in 11 consanguineous Pakistani families.

Journal: Acta neuropsychiatrica

Published: December 02, 2014

Biallelic truncating mutations in FMN2, encoding the actin-regulatory protein Formin 2, cause nonsyndromic autosomal-recessive intellectual disability.

Biallelic truncating mutations in FMN2, encoding the actin-regulatory protein Formin 2, cause nonsyndromic autosomal-recessive intellectual disability.

Journal: American journal of human genetics

Published: June 06, 2014

Phosphoserine phosphatase (PSPH) gene mutation in an intellectual disability family from Pakistan.

Phosphoserine phosphatase (PSPH) gene mutation in an intellectual disability family from Pakistan.

Journal: Clinical genetics

Published: April 14, 2014

Showing 1-12 of 15

Last Updated: 09/26/2026