Amelie Pinard

6PUBLICATIONS
21CO-AUTHORS
Gene expression (incl. microarray and other genome-wide approaches)NeurogeneticsRespiratory diseasesMedical devicesMedical infection agents (incl. prions)
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Publications (6)

|Jan 26, 2026
ACTA2 Pathogenic Variants Activating Heat Shock Factor 1 and Increasing Cholesterol Biosynthesis in Smooth Muscle Cells Predispose to Early Onset Atherosclerosis.

Maura L Boerio, Abhijnan Chattopadhyay, Xue-Yan Duan

|Mar 06, 2024
Bridging the Genetic Divide: Ensuring Equitable Access to Neurologic Genetic Testing.

Amélie Pinard, Aleksandar Rajkovic

|Nov 09, 2022
Further Evidence That ARIH1 Rare Variants Predispose to Thoracic Aortic Disease.

Maura L Boerio, Nicole M Engelhardt, Sanmati Cuddapah

|Feb 11, 2021
Association of De Novo RNF213 Variants With Childhood Onset Moyamoya Disease and Diffuse Occlusive Vasculopathy.

Amélie Pinard, Maximillian D J Fiander, Alana C Cecchi

|Aug 05, 2020
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.

Fadi I Musfee, Dongchuan Guo, Amélie C Pinard

|Sep 03, 2019
The pleiotropy associated with de novo variants in CHD4, CNOT3, and SETD5 extends to moyamoya angiopathy.

Amélie Pinard, Stéphanie Guey, Dongchuan Guo

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Frequent Collaborators

3 joint publications

Siddharth Prakash

2 joint publications

Maura L Boerio

2 joint publications

Dianna M Milewicz

1 joint publications

Fadi I Musfee