Mouna Ben Amor

Moncton, NB, Canada

Last Updated: 09/26/2026

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Found 14 publications

Episignature leads to diagnosis and reclassification of DYRK1A variant in a child with syndromic neurodevelopmental disorder: a case report.

Episignature leads to diagnosis and reclassification of DYRK1A variant in a child with syndromic neurodevelopmental disorder: a case report.

Journal: Frontiers in genetics

Published: February 18, 2026

Corrigendum to "A novel RORA genetic variant associated with early-onset obesity and insomnia".

Corrigendum to "A novel RORA genetic variant associated with early-onset obesity and insomnia".

Journal: European journal of medical genetics

Published: October 08, 2025

A novel RORA genetic variant associated with early-onset obesity and insomnia.

A novel RORA genetic variant associated with early-onset obesity and insomnia.

Journal: European journal of medical genetics

Published: January 31, 2025

Expanding the Genetic Landscape of ATXN2 Variants: Insights From a Biallelic Trinucleotide Repeat Expansion in an Acadian Family.

Expanding the Genetic Landscape of ATXN2 Variants: Insights From a Biallelic Trinucleotide Repeat Expansion in an Acadian Family.

Journal: Neurology. Genetics

Published: January 28, 2025

The Reclassification of a FBN1 Variant of Unknown Significance Associated With Marfan Syndrome Through Careful Clinical Correlation and Family-Based Evaluation.

The Reclassification of a FBN1 Variant of Unknown Significance Associated With Marfan Syndrome Through Careful Clinical Correlation and Family-Based Evaluation.

Journal: Case reports in medicine

Published: June 10, 2024

Identification of an intronic Alu insertion in the SYNE1 gene associated with autosomal recessive spinocerebellar ataxia type 8.

Identification of an intronic Alu insertion in the SYNE1 gene associated with autosomal recessive spinocerebellar ataxia type 8.

Journal: Genetics in medicine open

Published: May 28, 2024

Novel dermatological and skeletal features associated with PTEN variant in PTEN hamartoma tumor syndrome.

Novel dermatological and skeletal features associated with PTEN variant in PTEN hamartoma tumor syndrome.

Journal: European journal of medical genetics

Published: January 05, 2023

A novel CHD3 variant in a patient with central precocious puberty: Expanded phenotype of Snijders Blok-Campeau syndrome?

A novel CHD3 variant in a patient with central precocious puberty: Expanded phenotype of Snijders Blok-Campeau syndrome?

Journal: American journal of medical genetics. Part A

Published: October 05, 2022

Pathogenic variants carrier screening in New Brunswick: Acadians reveal high carrier frequency for multiple genetic disorders.

Pathogenic variants carrier screening in New Brunswick: Acadians reveal high carrier frequency for multiple genetic disorders.

Journal: BMC medical genomics

Published: December 15, 2021

A 132 bp deletion affecting the KCNQ1OT1 gene associated with Silver-Russell syndrome clinical phenotype.

A 132 bp deletion affecting the KCNQ1OT1 gene associated with Silver-Russell syndrome clinical phenotype.

Journal: Journal of medical genetics

Published: October 27, 2021

Phenotypic spectrum associated with pathogenic mutation in the NRG1 gene in Acadian family.

Phenotypic spectrum associated with pathogenic mutation in the NRG1 gene in Acadian family.

Journal: American journal of medical genetics. Part A

Published: June 19, 2020

Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly in a Finnish woman: first confirmation of a duplication in RUNX2 as pathogenic variant.

Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly in a Finnish woman: first confirmation of a duplication in RUNX2 as pathogenic variant.

Journal: European journal of medical genetics

Published: August 19, 2014

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Last Updated: 09/26/2026