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List of works by Amélie Pinard

A genome-wide approach reveals novel imprinted genes expressed in the human placenta

scientific article published on 16 August 2012

A genome-wide search for new imprinted genes in the human placenta identifies DSCAM as the first imprinted gene on chromosome 21

scientific article published in January 2019

Actionable Genes, Core Databases, and Locus-Specific Databases.

scientific article

An uncommon cause of tricuspid regurgitation: three-dimensional echocardiographic incremental value, surgical and genetic insights

scientific article published on 15 December 2015

Analysis of HOXB1 gene in a cohort of patients with sporadic ventricular septal defect

scientific article published on 19 June 2018

Comparative genomics of emerging pathogens in the Candida glabrata clade

scientific article

Genetics of Thoracic and Abdominal Aortic Diseases

scientific article published on 01 February 2019

LTBP3 Pathogenic Variants Predispose Individuals to Thoracic Aortic Aneurysms and Dissections.

scientific article published in April 2018

Rare deleterious variants of NOTCH1, GATA4, SMAD6, and ROBO4 are enriched in BAV with early onset complications but not in BAV with heritable thoracic aortic disease

scientific article published on 03 August 2020

The pleiotropy associated with de novo variants in CHD4, CNOT3, and SETD5 extends to moyamoya angiopathy

scientific article published on 02 September 2019

The revised ghent nosology; reclassifying isolated ectopia lentis.

scientific article published on 06 March 2014

UMD-Predictor: A High-Throughput Sequencing Compliant System for Pathogenicity Prediction of any Human cDNA Substitution

scientific article published on 04 February 2016

WES/WGS Reporting of Mutations from Cardiovascular "Actionable" Genes in Clinical Practice: A Key Role for UMD Knowledgebases in the Era of Big Databases

scientific article published on 20 September 2016

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