| Clinical validity of genes for heritable thoracic aortic aneurysm and dissection M Renard, C Francis, R Ghosh, AF Scott, PD Witmer, LC Adès, ... Journal of the American College of Cardiology 72 (6), 605-615, 2018 | 237 | 2018 |
| LOX Mutations Predispose to Thoracic Aortic Aneurysms and Dissections D Guo, ES Regalado, L Gong, X Duan, RLP Santos-Cortez, P Arnaud, ... Circulation research 118 (6), 928-934, 2016 | 207 | 2016 |
| Clinical relevance of genotype–phenotype correlations beyond vascular events in a cohort study of 1500 Marfan syndrome patients with FBN1 pathogenic variants P Arnaud, O Milleron, N Hanna, J Ropers, NO Ouali, A Affoune, ... Genetics in Medicine 23 (7), 1296-1304, 2021 | 83 | 2021 |
| Association of modifiers and other genetic factors explain Marfan syndrome clinical variability M Aubart, S Gazal, P Arnaud, L Benarroch, MS Gross, J Buratti, A Boland, ... European Journal of Human Genetics 26 (12), 1759-1772, 2018 | 81 | 2018 |
| Genetic diversity and pathogenic variants as possible predictors of severity in a French sample of nonsyndromic heritable thoracic aortic aneurysms and dissections (nshTAAD) P Arnaud, N Hanna, L Benarroch, M Aubart, L Bal, P Bouvagnet, T Busa, ... Genetics in Medicine 21 (9), 2015-2024, 2019 | 54 | 2019 |
| MYLK pathogenic variants aortic disease presentation, pregnancy risk, and characterization of pathogenic missense variants SE Wallace, ES Regalado, L Gong, AL Janda, D Guo, CF Russo, ... Genetics in Medicine 21 (1), 144-151, 2019 | 53 | 2019 |
| Association between mutation size and cardiac involvement in myotonic dystrophy type 1: an analysis of the DM1-Heart Registry C Chong-Nguyen, K Wahbi, V Algalarrondo, HM Bécane, ... Circulation: Cardiovascular Genetics 10 (3), e001526, 2017 | 48 | 2017 |
| SMAD3 pathogenic variants: risk for thoracic aortic disease and associated complications from the Montalcino Aortic Consortium EM Hostetler, ES Regalado, DC Guo, N Hanna, P Arnaud, ... Journal of medical genetics 56 (4), 252-260, 2019 | 46 | 2019 |
| Pathogenic FBN1 genetic variation and aortic dissection in patients with marfan syndrome O Milleron, F Arnoult, G Delorme, D Detaint, Q Pellenc, R Raffoul, ... Journal of the American College of Cardiology 75 (8), 843-853, 2020 | 45 | 2020 |
| Unusual association of a unique CAG interruption in 5′ of DM1 CTG repeats with intergenerational contractions and low somatic mosaicism S Tomé, E Dandelot, C Dogan, A Bertrand, D Geneviève, Y Péréon, ... Human mutation 39 (7), 970-982, 2018 | 45 | 2018 |
| Homozygous and compound heterozygous mutations in the FBN1 gene: unexpected findings in molecular diagnosis of Marfan syndrome P Arnaud, N Hanna, M Aubart, B Leheup, S Dupuis-Girod, S Naudion, ... Journal of Medical Genetics 54 (2), 100-103, 2017 | 40 | 2017 |
| Pathogenic variants in THSD4, encoding the ADAMTS-like 6 protein, predispose to inherited thoracic aortic aneurysm S Elbitar, M Renard, P Arnaud, N Hanna, MP Jacob, DC Guo, K Tsutsui, ... Genetics in Medicine 23 (1), 111-122, 2021 | 36 | 2021 |
| Development and validation of a new scoring system to predict survival in patients with myotonic dystrophy type 1 K Wahbi, R Porcher, P Laforêt, A Fayssoil, HM Bécane, A Lazarus, ... JAMA neurology 75 (5), 573-581, 2018 | 36 | 2018 |
| Systems pharmacology–based integration of human and mouse data for drug repurposing to treat thoracic aneurysms J Hansen, J Galatioto, CI Caescu, P Arnaud, RC Calizo, B Spronck, ... JCI insight 4 (11), 2019 | 25 | 2019 |
| Quantifying the Genetic Basis of Marfan Syndrome Clinical Variability T Grange, M Aubart, M Langeois, L Benarroch, P Arnaud, O Milleron, ... Genes 11 (5), 574, 2020 | 16 | 2020 |
| Phenotypic spectrum of TGFB3 disease‐causing variants in a Dutch‐French cohort and first report of a homozygous patient L Marsili, E Overwater, N Hanna, G Baujat, MJH Baars, C Boileau, ... Clinical Genetics 97 (5), 723-730, 2020 | 15 | 2020 |
| A new mutational hotspot in the SKI gene in the context of MFS/TAA molecular diagnosis P Arnaud, C Racine, N Hanna, J Thevenon, JL Alessandri, D Bonneau, ... Human genetics 139 (4), 461-472, 2020 | 15 | 2020 |
| Unsuspected somatic mosaicism for FBN1 gene contributes to Marfan syndrome P Arnaud, H Morel, O Milleron, L Gouya, C Francannet, A Da Costa, ... Genetics in Medicine 23 (5), 865-871, 2021 | 14 | 2021 |
| Clinical and genetic data of 22 new patients with SMAD3 pathogenic variants and review of the literature B Chesneau, T Edouard, Y Dulac, H Colineaux, M Langeois, N Hanna, ... Molecular genetics & genomic medicine 8 (5), e1132, 2020 | 13 | 2020 |
| Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability M Chevarin, Y Duffourd, RA Barnard, S Moutton, F Lecoquierre, F Daoud, ... Journal of medical genetics 57 (7), 466-474, 2020 | 12 | 2020 |
