| Genetics of thoracic and abdominal aortic diseases: aneurysms, dissections, and ruptures A Pinard, GT Jones, DM Milewicz Circulation research 124 (4), 588-606, 2019 | 411 | 2019 |
| Comparative genomics of emerging pathogens in the Candida glabrata clade T Gabaldón, T Martin, M Marcet-Houben, P Durrens, M Bolotin-Fukuhara, ... BMC genomics 14, 1-16, 2013 | 228 | 2013 |
| UMD‐predictor: a high‐throughput sequencing compliant system for pathogenicity prediction of any human cDNA substitution D Salgado, JP Desvignes, G Rai, A Blanchard, M Miltgen, A Pinard, ... Human mutation 37 (5), 439-446, 2016 | 136 | 2016 |
| A genome-wide approach reveals novel imprinted genes expressed in the human placenta S Barbaux, G Gascoin-Lachambre, C Buffat, P Monnier, F Mondon, ... Epigenetics 7 (9), 1079-1090, 2012 | 121 | 2012 |
| LTBP3 pathogenic variants predispose individuals to thoracic aortic aneurysms and dissections D Guo, ES Regalado, A Pinard, J Chen, K Lee, C Rigelsky, L Zilberberg, ... The American Journal of Human Genetics 102 (4), 706-712, 2018 | 70 | 2018 |
| Piezo1 is required for outflow tract and aortic valve development. A Faucherre, HM ou Maati, N Nasr, A Pinard, A Theron, G Odelin, ... Journal of molecular and cellular cardiology 143, 51-62, 2020 | 68 | 2020 |
| The revised ghent nosology; reclassifying isolated ectopia lentis A Chandra, D Patel, JA Aragon‐Martin, A Pinard, G Collod‐Béroud, ... Clinical genetics 87 (3), 284-287, 2015 | 59 | 2015 |
| The pleiotropy associated with de novo variants in CHD4, CNOT3, and SETD5 extends to moyamoya angiopathy A Pinard, S Guey, D Guo, AC Cecchi, N Kharas, S Wallace, ES Regalado, ... Genetics in Medicine 22 (2), 427-431, 2020 | 53 | 2020 |
| DIAPH1 Variants in Non–East Asian Patients With Sporadic Moyamoya Disease AJ Kundishora, ST Peters, A Pinard, D Duran, S Panchagnula, T Barak, ... JAMA neurology, 2021 | 43 | 2021 |
| Update on the genetic risk for thoracic aortic aneurysms and acute aortic dissections: implications for clinical care. DM Milewicz, DC Guo, E Hostetler, I Marin, A Pinard, A Cecchi The Journal of Cardiovascular Surgery, 2021 | 35 | 2021 |
| Association of De Novo RNF213 Variants With Childhood Onset Moyamoya Disease and Diffuse Occlusive Vasculopathy A Pinard, MDJ Fiander, AC Cecchi, AL Rideout, M Azouz, SM Fraser, ... Neurology 96 (13), e1783-e1791, 2021 | 29 | 2021 |
| Rare deleterious variants of NOTCH1, GATA4, SMAD6, and ROBO4 are enriched in BAV with early onset complications but not in BAV with heritable thoracic … FI Musfee, D Guo, AC Pinard, EM Hostetler, EE Blue, DA Nickerson, ... Molecular Genetics & Genomic Medicine 8 (10), e1406, 2020 | 21 | 2020 |
| A genome-wide search for new imprinted genes in the human placenta identifies DSCAM as the first imprinted gene on chromosome 21 L Allach El Khattabi, S Backer, A Pinard, MN Dieudonné, V Tsatsaris, ... European Journal of Human Genetics 27 (1), 49-60, 2019 | 16 | 2019 |
| Rare variants in ANO1, encoding a calcium-activated chloride channel, predispose to moyamoya disease A Pinard, W Ye, SM Fraser, JA Rosenfeld, P Pichurin, SE Hickey, D Guo, ... Brain 146 (9), 3616-3623, 2023 | 15 | 2023 |
| Actionable genes, core databases, and locus‐specific databases A Pinard, M Miltgen, A Blanchard, H Mathieu, JP Desvignes, D Salgado, ... Human Mutation 37 (12), 1299-1307, 2016 | 9 | 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 A Pinard, D Salgado, JP Desvignes, G Rai, N Hanna, P Arnaud, C Guien, ... Human Mutation 37 (12), 1308-1317, 2016 | 8 | 2016 |
| Variations in the poly-histidine repeat motif of HOXA1 contribute to bicuspid aortic valve in mouse and zebrafish G Odelin, A Faucherre, D Marchese, A Pinard, H Jaouadi, ... Nature communications 14 (1), 1543, 2023 | 6 | 2023 |
| Further Evidence That ARIH1 Rare Variants Predispose to Thoracic Aortic Disease ML Boerio, NM Engelhardt, S Cuddapah, JI Gold, IC Marin, A Pinard, ... Circulation: Genomic and Precision Medicine 15 (6), e003707, 2022 | 3 | 2022 |
| Preventing Acute Aortic Dissections: The Power of Familial Screening and Risk Assessment AC Cecchi, ML Boerio, I Marin, A Pinard, DM Milewicz Journal of the American Heart Association 11 (8), e025441, 2022 | 3 | 2022 |
| Mosaicism for the smooth muscle cell (SMC)-specific knock-in of the Acta2 R179C pathogenic variant: Implications for gene editing therapies A Kaw, AJ Pedroza, A Chattopadhyay, A Pinard, D Guo, K Kaw, Z Zhou, ... Journal of molecular and cellular cardiology 171, 102-104, 2022 | 2 | 2022 |
