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Pinard, Amélie
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1

Bridging the Genetic Divide: Ensuring Equitable Access to N..:

Pinard, Amélie ; Rajkovic, Aleksandar
Neurology.  102 (2024)  6 - p. , 2024
Link: https://doi.org/10.1212/..
 
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2

SAMHD1 compound heterozygous rare variants associated with ..:

Karla, Aamuktha R. ; Pinard, Amélie ; Boerio, Maura L....
American Journal of Medical Genetics Part A.  194 (2023)  4 - p. , 2023
Link: https://doi.org/10.1002/..
 
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3

Variations in the poly-histidine repeat motif of HOXA1 cont..:

Odelin, Gaëlle ; Faucherre, Adèle ; Marchese, Damien...
Nature Communications.  14 (2023)  1 - p. , 2023
Link: https://doi.org/10.1038/..
 
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4

P535: Validation and real-life experience of a comprehensiv..:

Pinard, Amelie ; Chua, Anthony ; Hodoglugil, Ugur...
Genetics in Medicine Open.  1 (2023)  1 - p. 100582 , 2023
Link: https://doi.org/10.1016/..
 
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5

Rare variants in ANO1, encoding a calcium-activated chlorid..:

Pinard, Amélie ; Ye, Wenlei ; Fraser, Stuart M...
Brain.  146 (2023)  9 - p. 3616-3623 , 2023
Link: https://doi.org/10.1093/..
 
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6

Preventing Acute Aortic Dissections: The Power of Familial ..:

Cecchi, Alana C. ; Boerio, Maura L. ; Marin, Isabella..
Journal of the American Heart Association.  11 (2022)  8 - p. , 2022
Link: https://doi.org/10.1161/..
 
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7

Mosaicism for the smooth muscle cell (SMC)-specific knock-i..:

Kaw, Anita ; Pedroza, Albert J. ; Chattopadhyay, Abhijnan...
Journal of Molecular and Cellular Cardiology.  171 (2022)  - p. 102-104 , 2022
Link: https://doi.org/10.1016/..
 
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8

Association of De NovoRNF213Variants With Childhood Onset M..:

Pinard, Amélie ; Fiander, Maximillian D.J. ; Cecchi, Alana C....
Neurology.  96 (2021)  13 - p. , 2021
Link: https://doi.org/10.1212/..
 
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9

The pleiotropy associated with de novo variants in CHD4, CN..:

Pinard, Amélie ; Guey, Stéphanie ; Guo, Dongchuan...
Genetics in Medicine.  22 (2020)  2 - p. 427-431 , 2020
Link: https://doi.org/10.1038/..
 
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10

Piezo1 is required for outflow tract and aortic valve devel..:

Faucherre, Adèle ; Moha ou Maati, Hamid ; Nasr, Nathalie...
Journal of Molecular and Cellular Cardiology.  143 (2020)  - p. 51-62 , 2020
Link: https://doi.org/10.1016/..
 
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11

Analysis of HOXB1 gene in a cohort of patients with sporadi..:

Pinard, Amélie ; Eudes, Nathalie ; Mitchell, Julia...
Molecular Biology Reports.  45 (2018)  5 - p. 1507-1513 , 2018
Link: https://doi.org/10.1007/..
 
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12

A genome-wide search for new imprinted genes in the human p..:

Allach El Khattabi, Laïla ; Backer, Stéphanie ; Pinard, Amélie...
European Journal of Human Genetics.  27 (2018)  1 - p. 49-60 , 2018
Link: https://doi.org/10.1038/..
 
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13

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

Pinard, Amélie ; Miltgen, Morgane ; Blanchard, Arnaud...
Human Mutation.  37 (2016)  12 - p. 1299-1307 , 2016
Link: https://doi.org/10.1002/..
 
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14

UMD‐Predictor: A High‐Throughput Sequencing Compliant Syste..:

Salgado, David ; Desvignes, Jean‐Pierre ; Rai, Ghadi...
Human Mutation.  37 (2016)  5 - p. 439-446 , 2016
Link: https://doi.org/10.1002/..
 
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15

WES/WGS Reporting of Mutations from Cardiovascular "Actiona..:

Pinard, Amélie ; Salgado, David ; Desvignes, Jean-Pierre...
Human Mutation.  37 (2016)  12 - p. 1308-1317 , 2016
Link: https://doi.org/10.1002/..
 
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