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Actionable Genes, Core Databases, and Locus-Specific Databases.
Pinard A, Miltgen M, Blanchard A, Mathieu H, Desvignes JP, Salgado D, Fabre A, Arnaud P, Barré L, Krahn M, Grandval P, Olschwang S, Zaffran S, Boileau C, Béroud C, Collod-Béroud G. Pinard A, et al. Hum Mutat. 2016 Dec;37(12):1299-1307. doi: 10.1002/humu.23112. Epub 2016 Sep 26. Hum Mutat. 2016. PMID: 27600092
Piezo1 is required for outflow tract and aortic valve development.
Faucherre A, Moha Ou Maati H, Nasr N, Pinard A, Theron A, Odelin G, Desvignes JP, Salgado D, Collod-Béroud G, Avierinos JF, Lebon G, Zaffran S, Jopling C. Faucherre A, et al. Among authors: pinard a. J Mol Cell Cardiol. 2020 Jun;143:51-62. doi: 10.1016/j.yjmcc.2020.03.013. Epub 2020 Apr 3. J Mol Cell Cardiol. 2020. PMID: 32251670
Variations in the poly-histidine repeat motif of HOXA1 contribute to bicuspid aortic valve in mouse and zebrafish.
Odelin G, Faucherre A, Marchese D, Pinard A, Jaouadi H, Le Scouarnec S; FranceGenRef Consortium; Chiarelli R, Achouri Y, Faure E, Herbane M, Théron A, Avierinos JF, Jopling C, Collod-Béroud G, Rezsohazy R, Zaffran S. Odelin G, et al. Among authors: pinard a. Nat Commun. 2023 Mar 20;14(1):1543. doi: 10.1038/s41467-023-37110-x. Nat Commun. 2023. PMID: 36941270 Free PMC article.
The revised ghent nosology; reclassifying isolated ectopia lentis.
Chandra A, Patel D, Aragon-Martin JA, Pinard A, Collod-Béroud G, Comeglio P, Boileau C, Faivre L, Charteris D, Child AH, Arno G. Chandra A, et al. Among authors: pinard a. Clin Genet. 2015 Mar;87(3):284-7. doi: 10.1111/cge.12358. Epub 2014 Mar 6. Clin Genet. 2015. PMID: 24635535 Free article.
The pleiotropy associated with de novo variants in CHD4, CNOT3, and SETD5 extends to moyamoya angiopathy.
Pinard A, Guey S, Guo D, Cecchi AC, Kharas N, Wallace S, Regalado ES, Hostetler EM, Sharrief AZ, Bergametti F, Kossorotoff M, Hervé D, Kraemer M, Bamshad MJ, Nickerson DA, Smith ER, Tournier-Lasserve E, Milewicz DM. Pinard A, et al. Genet Med. 2020 Feb;22(2):427-431. doi: 10.1038/s41436-019-0639-2. Epub 2019 Sep 2. Genet Med. 2020. PMID: 31474762 Free PMC article.
LTBP3 Pathogenic Variants Predispose Individuals to Thoracic Aortic Aneurysms and Dissections.
Guo DC, Regalado ES, Pinard A, Chen J, Lee K, Rigelsky C, Zilberberg L, Hostetler EM, Aldred M, Wallace SE, Prakash SK; University of Washington Center for Mendelian Genomics; Leal SM, Bamshad MJ, Nickerson DA, Natowicz M, Rifkin DB, Milewicz DM. Guo DC, et al. Among authors: pinard a. Am J Hum Genet. 2018 Apr 5;102(4):706-712. doi: 10.1016/j.ajhg.2018.03.002. Am J Hum Genet. 2018. PMID: 29625025 Free PMC article.
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