1. Actionable Genes, Core Databases, and Locus‐Specific Databases. Issue 12 (26th September 2016) Authors: Pinard, Amélie; Miltgen, Morgane; Blanchard, Arnaud; Mathieu, Hélène; Desvignes, Jean‐Pierre; Salgado, David; Fabre, Aurélie; Arnaud, Pauline; Barré, Laura; Krahn, Martin; Grandval, Philippe; Olschwang, Sylviane; Zaffran, Stéphane; Boileau, Catherine; Béroud, Christophe; Collod‐Béroud, Gwenaëlle Journal: Human mutation Issue: Volume 37:Issue 12(2016) Page Start: 1299 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Association Between Mutation Size and Cardiac Involvement in Myotonic Dystrophy Type 1: An Analysis of the DM1-Heart Registry. (June 2017) Authors: Chong-Nguyen, Caroline; Wahbi, Karim; Algalarrondo, Vincent; Bécane, Henri Marc; Radvanyi-Hoffman, Hélène; Arnaud, Pauline; Furling, Denis; Lazarus, Arnaud; Bassez, Guillaume; Béhin, Anthony; Fayssoil, Abdallah; Laforêt, Pascal; Stojkovic, Tanya; Eymard, Bruno; Duboc, Denis Journal: Circulation Issue: Volume 10:Number 3(2017) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Clinical and genetic data of 22 new patients with SMAD3 pathogenic variants and review of the literature. Issue 5 (10th March 2020) Authors: Chesneau, Bertrand; Edouard, Thomas; Dulac, Yves; Colineaux, Hélène; Langeois, Maud; Hanna, Nadine; Boileau, Catherine; Arnaud, Pauline; Chassaing, Nicolas; Julia, Sophie; Jondeau, Guillaume; Plancke, Aurélie; Khau Van Kien, Philippe; Plaisancié, Julie Journal: Molecular genetics & genomic medicine Issue: Volume 8:Issue 5(2020) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability. Issue 7 (10th April 2020) Authors: Chevarin, Martin; Duffourd, Yannis; A. Barnard, Rebecca; Moutton, Sébastien; Lecoquierre, François; Daoud, Fatma; Kuentz, Paul; Cabret, Caroline; Thevenon, Julien; Gautier, Elodie; Callier, Patrick; St-Onge, Judith; Jouan, Thibaud; Lacombe, Didier; Delrue, Marie Ange; Goizet, Cyril; Morice-Picard... Journal: Journal of medical genetics Issue: Volume 57:Issue 7(2020) Page Start: 466 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Homozygous and compound heterozygous mutations in the FBN1 gene: unexpected findings in molecular diagnosis of Marfan syndrome. Issue 2 (31st August 2016) Authors: Arnaud, Pauline; Hanna, Nadine; Aubart, Mélodie; Leheup, Bruno; Dupuis-Girod, Sophie; Naudion, Sophie; Lacombe, Didier; Milleron, Olivier; Odent, Sylvie; Faivre, Laurence; Bal, Laurence; Edouard, Thomas; Collod-Beroud, Gwenaëlle; Langeois, Maud; Spentchian, Myrtille; Gouya, Laurent; Jondeau, Guil... Journal: Journal of medical genetics Issue: Volume 54:Issue 2(2017) Page Start: 100 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Inhibition of HIPK2 Alleviates Thoracic Aortic Disease in Mice With Progressively Severe Marfan Syndrome. Issue 9 (29th July 2021) Authors: Caescu, Cristina I.; Hansen, Jens; Crockett, Brittany; Xiao, Wenzhen; Arnaud, Pauline; Spronck, Bart; Weinberg, Alan; Hashimoto, Takeshi; Murtada, Sae-Il; Borkar, Roshan; Gallo, James M.; Jondeau, Guillaume; Boileau, Catherine; Humphrey, Jay D.; He, John Cijiang; Iyengar, Ravi; Ramirez, Francesco Journal: Arteriosclerosis, thrombosis, and vascular biology Issue: Volume 41:Issue 9(2021) Page Start: 2483 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Inhibition of HIPK2 Alleviates Thoracic Aortic Disease in Mice With Progressively Severe Marfan Syndrome. Issue 9 (September 2021) Authors: Caescu, Cristina I.; Hansen, Jens; Crockett, Brittany; Xiao, Wenzhen; Arnaud, Pauline; Spronck, Bart; Weinberg, Alan; Hashimoto, Takeshi; Murtada, Sae-Il; Borkar, Roshan; Gallo, James M.; Jondeau, Guillaume; Boileau, Catherine; Humphrey, Jay D.; He, John Cijiang; Iyengar, Ravi; Ramirez, Francesco Journal: Arteriosclerosis, thrombosis, and vascular biology Issue: Volume 41:Issue 9(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. LOX Mutations Predispose to Thoracic Aortic Aneurysms and Dissections. Issue 6 (18th March 2016) Authors: Guo, Dong-chuan; Regalado, Ellen S.; Gong, Limin; Duan, Xueyan; Santos-Cortez, Regie Lyn P.; Arnaud, Pauline; Ren, Zhao; Cai, Bo; Hostetler, Ellen M.; Moran, Rocio; Liang, David; Estrera, Anthony; Safi, Hazim J.; Leal, Suzanne M.; Bamshad, Michael J.; Shendure, Jay; Nickerson, Deborah A.; Jondeau... Journal: Circulation research Issue: Volume 118:Issue 6(2016) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Phenotypic spectrum of TGFB3 disease‐causing variants in a Dutch‐French cohort and first report of a homozygous patient. Issue 5 (16th January 2020) Authors: Marsili, Luisa; Overwater, Eline; Hanna, Nadine; Baujat, Geneviève; Baars, Marieke J.H.; Boileau, Catherine; Bonneau, Dominique; Brehin, Anne Claire; Capri, Yline; Cheung, Ho Y.; Dulfer, Eelco; Gerard, Marion; Gouya, Laurent; Hilhorst‐Hofstee, Yvonne; Houweling, Arjan C.; Isidor, Bertrand; Le Glo... Journal: Clinical genetics Issue: Volume 97:Issue 5(2020) Page Start: 723 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. SMAD3 pathogenic variants: risk for thoracic aortic disease and associated complications from the Montalcino Aortic Consortium. Issue 4 (19th January 2019) Authors: Hostetler, Ellen M; Regalado, Ellen S; Guo, Dong-Chuan; Hanna, Nadine; Arnaud, Pauline; Muiño-Mosquera, Laura; Callewaert, Bert Louis; Lee, Kwanghyuk; Leal, Suzanne M; Wallace, Stephanie E; Rideout, Andrea L; Dyack, Sarah; Aatre, Rajani D; Boileau, Catherine; De Backer, Julie; Jondeau, Guillaume;... Journal: Journal of medical genetics Issue: Volume 56:Issue 4(2019) Page Start: 252 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗