1. A large‐scale exome array analysis of venous thromboembolism. Issue 4 (19th January 2019) Authors: Lindström, Sara; Brody, Jennifer A.; Turman, Constance; Germain, Marine; Bartz, Traci M.; Smith, Erin N.; Chen, Ming‐Huei; Puurunen, Marja; Chasman, Daniel; Hassler, Jeffrey; Pankratz, Nathan; Basu, Saonli; Guan, Weihua; Gyorgy, Beata; Ibrahim, Manal; Empana, Jean‐Philippe; Olaso, Robert; Jackson... Journal: Genetic epidemiology Issue: Volume 43:Issue 4(2019) Page Start: 449 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A new titinopathy: Childhood-juvenile onset Emery-Dreifuss–like phenotype without cardiomyopathy. (15th December 2015) Authors: De Cid, Rafael; Ben Yaou, Rabah; Roudaut, Carinne; Charton, Karine; Baulande, Sylvain; Leturcq, France; Romero, Norma Beatriz; Malfatti, Edoardo; Beuvin, Maud; Vihola, Anna; Criqui, Audrey; Nelson, Isabelle; Nectoux, Juliette; Ben Aim, Laurène; Caloustian, Christophe; Olaso, Robert; Udd, Bjarne; ... Journal: Neurology Issue: Volume 85:Number 24(2015) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. A novel rare c.-39C>T mutation in the PROS1 5′UTR causing PS deficiency by creating a new upstream translation initiation codone. Issue 10 (29th May 2020) Authors: Labrouche-Colomer, Sylvie; Soukarieh, Omar; Proust, Carole; Mouton, Christine; Huguenin, Yoann; Roux, Maguelonne; Besse, Céline; Boland, Anne; Olaso, Robert; Constans, Joël; Deleuze, Jean-François; Morange, Pierre-Emmanuel; Jaspard-Vinassa, Béatrice; Trégouët, David-Alexandre Journal: Clinical science Issue: Volume 134:Issue 10(2020) Page Start: 1181 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. A42 Reactive astrocytes promote proteostasis in huntington's disease. (September 2018) Authors: Abjean, Laurene; Haim, Lucile Ben; Sauvage, Maria Angeles Carrillo-de; Hérard, Anne-Sophie; Derbois, Céline; Petit, Fanny; Gipstein, Pauline; Guillermier, Martine; Gaudin, Mylène; Bernier, Sueva; Dufour, Noëlle; Bémelmans, Alexis; Deleuze, Jean-François; Hantraye, Philippe; Bonvento, Gilles; Olas... Journal: Journal of neurology, neurosurgery and psychiatry Issue: Volume 89(2018)Supplement 1 Page Start: A15 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. ABCA7 rare variants and Alzheimer disease risk. (7th June 2016) Authors: Le Guennec, Kilan; Nicolas, Gaël; Quenez, Olivier; Charbonnier, Camille; Wallon, David; Bellenguez, Céline; Grenier-Boley, Benjamin; Rousseau, Stéphane; Richard, Anne-Claire; Rovelet-Lecrux, Anne; Bacq, Delphine; Garnier, Jean-Guillaume; Olaso, Robert; Boland, Anne; Meyer, Vincent; Deleuze, Jean-... Journal: Neurology Issue: Volume 86:Number 23(2016) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Association and performance of polygenic risk scores for breast cancer among French women presenting or not a familial predisposition to the disease. (January 2023) Authors: Jiao, Yue; Truong, Thérèse; Eon-Marchais, Séverine; Mebirouk, Noura; Caputo, Sandrine M.; Dondon, Marie-Gabrielle; Karimi, Mojgan; Le Gal, Dorothée; Beauvallet, Juana; Le Floch, Édith; Dandine-Roulland, Claire; Bacq-Daian, Delphine; Olaso, Robert; Albuisson, Juliette; Audebert-Bellanger, Séverine... Journal: European journal of cancer Issue: Volume 179(2023) Page Start: 76 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Circadian genes polymorphisms, night work and prostate cancer risk: Findings from the EPICAP study. Issue 11 (20th July 2020) Authors: Wendeu‐Foyet, Méyomo G.; Cénée, Sylvie; Koudou, Yves; Trétarre, Brigitte; Rébillard, Xavier; Cancel‐Tassin, Géraldine; Cussenot, Olivier; Boland, Anne; Olaso, Robert; Deleuze, Jean‐François; Blanché, Hélène; Lamy, Pierre‐Jean; Mulot, Claire; Laurent‐Puig, Pierre; Truong, Thérèse; Menegaux, Florence Journal: International journal of cancer Issue: Volume 147:Issue 11(2020) Page Start: 3119 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Cross-Ancestry Investigation of Venous Thromboembolism Genomic Predictors. Issue 16 (26th September 2022) Authors: Thibord, Florian; Klarin, Derek; Brody, Jennifer A.; Chen, Ming-Huei; Levin, Michael G.; Chasman, Daniel I.; Goode, Ellen L.; Hveem, Kristian; Teder-Laving, Maris; Martinez-Perez, Angel; Aïssi, Dylan; Daian-Bacq, Delphine; Ito, Kaoru; Natarajan, Pradeep; Lutsey, Pamela L.; Nadkarni, Girish N.; de... Journal: Circulation Issue: Volume 146:Issue 16(2022) Page Start: 1225 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Deep intronic NIPBL de novo mutations and differential diagnoses revealed by whole genome and RNA sequencing in Cornelia de Lange syndrome patients. Issue 12 (23rd July 2022) Authors: Coursimault, Juliette; Cassinari, Kévin; Lecoquierre, François; Quenez, Olivier; Coutant, Sophie; Derambure, Céline; Vezain, Myriam; Drouot, Nathalie; Vera, Gabriella; Schaefer, Elise; Philippe, Anaïs; Doray, Bérénice; Lambert, Laëtitia; Ghoumid, Jamal; Smol, Thomas; Rama, Mélanie; Legendre, Mari... Journal: Human mutation Issue: Volume 43:Issue 12(2022) Page Start: 1882 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Evaluation of saliva as a source of accurate whole‐genome and microbiome sequencing data. Issue 5 (16th May 2021) Authors: Herzig, Anthony F.; Velo‐Suárez, Lourdes; Le Folgoc, Gaëlle; Boland, Anne; Blanché, Hélène; Olaso, Robert; Le Roux, Liana; Delmas, Christelle; Goldberg, Marcel; Zins, Marie; Lethimonnier, Franck; Deleuze, Jean‐François; Génin, Emmanuelle Journal: Genetic epidemiology Issue: Volume 45:Issue 5(2021) Page Start: 537 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗