1. Activation of cryptic donor splice sites by non-coding and coding PAX6 variants contributes to congenital aniridia. Issue 5 (29th March 2021) Authors: Tarilonte, Maria; Ramos, Patricia; Moya, Jennifer; Fernandez-Sanz, Guilermo; Blanco-Kelly, Fiona; Swafiri, Saoud Tahsin; Villaverde, Cristina; Romero, Raquel; Tamayo, Alejandra; Gener, Blanca; Calvas, Patrick; Ayuso, Carmen; Corton, Marta Journal: Journal of medical genetics Issue: Volume 59:Issue 5(2022) Page Start: 428 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Attitudes of French populations towards the disclosure of unsolicited findings in medical genetics. (September 2021) Authors: Rosier, Marion; Guedj, Myriam; Calvas, Patrick; Julia, Sophie; Garnier, Christelle; Cambon-Thomsen, Anne; Muñoz Sastre, Maria Teresa Journal: Journal of health psychology Issue: Volume 26:Number 11(2021) Page Start: 1767 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Bi-allelic variants in WNT7B disrupt the development of multiple organs in humans. Issue 3 (5th July 2022) Authors: Bouasker, Samir; Patel, Nisha; Greenlees, Rebecca; Wellesley, Diana; Fares Taie, Lucas; Almontashiri, Naif A; Baptista, Julia; Alghamdi, Malak Ali; Boissel, Sarah; Martinovic, Jelena; Prokudin, Ivan; Holden, Samantha; Mudhar, Hardeep-Singh; Riley, Lisa G; Nassif, Christina; Attie-Bitach, Tania; M... Journal: Journal of medical genetics Issue: Volume 60:Issue 3(2023) Page Start: 294 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Confirmation of TENM3 involvement in autosomal recessive colobomatous microphthalmia. Issue 7 (22nd April 2016) Authors: Chassaing, Nicolas; Ragge, Nicola; Plaisancié, Julie; Patat, Oliver; Geneviève, David; Rivier, François; Malrieu‐Eliaou, Claudie; Hamel, Christian; Kaplan, Josseline; Calvas, Patrick Journal: American journal of medical genetics Issue: Volume 170:Issue 7(2016) Page Start: 1895 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Delayed‐onset Friedreich's ataxia revisited. Issue 1 (21st September 2015) Authors: Lecocq, Claire; Charles, Perrine; Azulay, Jean‐Philippe; Meissner, Wassilios; Rai, Myriam; N'Guyen, Karine; Péréon, Yann; Fabre, Nelly; Robin, Elsa; Courtois, Sylvie; Guyant‐Maréchal, Lucie; Zagnoli, Fabien; Rudolf, Gabrielle; Renaud, Mathilde; Sévin‐Allouet, Mathieu; Lesne, Fabien; Alaerts, Nick... Journal: Movement disorders Issue: Volume 31:Issue 1(2016) Page Start: 62 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Double deletion of a chromosome 21 inserted in a chromosome 22 in an azoospermic patient. Issue 9 (20th August 2015) Authors: Marquet, Valentine; Bourgeois, Dominique; De Mas, Philippe; Bouneau, Laurence; Vigouroux‐Castera, Adeline; Molignier, Romain; Calvas, Patrick Journal: Clinical case reports Issue: Volume 3:Issue 9(2015:Sep.) Page Start: 757 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Extreme myopia in a family with a missense PAX6 mutation: extended phenotype. (2nd January 2019) Authors: Smirnov, Vasily M.; Calvas, Patrick; Drumare, Isabelle; Marks, Caroline; Defoort-Dhellemmes, Sabine Journal: Ophthalmic genetics Issue: Volume 40:Number 1(2019) Page Start: 64 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. First evidence of SOX2 mutations in Peters' anomaly: Lessons from molecular screening of 95 patients. Issue 5 (27th February 2022) Authors: Chesneau, Bertrand; Aubert‐Mucca, Marion; Fremont, Félix; Pechmeja, Jacmine; Soler, Vincent; Isidor, Bertrand; Nizon, Mathilde; Dollfus, Hélène; Kaplan, Josseline; Fares‐Taie, Lucas; Rozet, Jean‐Michel; Busa, Tiffany; Lacombe, Didier; Naudion, Sophie; Amiel, Jeanne; Rio, Marlène; Attie‐Bitach, Ta... Journal: Clinical genetics Issue: Volume 101:Issue 5/6(2022) Page Start: 494 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Functional classification of ATM variants in ataxia‐telangiectasia patients. Issue 10 (17th May 2019) Authors: Fiévet, Alice; Bellanger, Dorine; Rieunier, Guillaume; Dubois d'Enghien, Catherine; Sophie, Julia; Calvas, Patrick; Carriere, Jean‐Paul; Anheim, Mathieu; Castrioto, Anna; Flabeau, Olivier; Degos, Bertrand; Ewenczyk, Claire; Mahlaoui, Nizar; Touzot, Fabien; Suarez, Felipe; Hully, Marie; Roubertie,... Journal: Human mutation Issue: Volume 40:Issue 10(2019) Page Start: 1713 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Identification of PITX3 mutations in individuals with various ocular developmental defects. (4th May 2018) Authors: Zazo Seco, Celia; Plaisancié, Julie; Lupasco, Tatiana; Michot, Caroline; Pechmeja, Jacmine; Delanne, Julian; Cottereau, Edouard; Ayuso, Carmen; Corton, Marta; Calvas, Patrick; Ragge, Nicola; Chassaing, Nicolas Journal: Ophthalmic genetics Issue: Volume 39:Number 3(2018) Page Start: 314 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗