1. A Simple, Universal, and Cost-Efficient Digital PCR Method for the Targeted Analysis of Copy Number Variations. (1st September 2019) Authors: Cassinari, Kévin; Quenez, Olivier; Joly-Hélas, Géraldine; Beaussire, Ludivine; Le Meur, Nathalie; Castelain, Mathieu; Goldenberg, Alice; Guerrot, Anne-Marie; Brehin, Anne-Claire; Deleuze, Jean-François; Boland, Anne; Rovelet-Lecrux, Anne; Campion, Dominique; Saugier-Veber, Pascale; Gruchy, Nicola... Journal: Clinical chemistry Issue: Volume 65:Number 9(2019) Page Start: 1153 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Assessment of Multiplex Digital Droplet RT-PCR as a Diagnostic Tool for SARS-CoV-2 Detection in Nasopharyngeal Swabs and Saliva Samples. (2nd January 2021) Authors: Cassinari, Kévin; Alessandri-Gradt, Elodie; Chambon, Pascal; Charbonnier, Françoise; Gracias, Ségolène; Beaussire, Ludivine; Alexandre, Kevin; Sarafan-Vasseur, Nasrin; Houdayer, Claude; Etienne, Manuel; Caron, François; Plantier, Jean Christophe; Frebourg, Thierry Journal: Clinical chemistry Issue: Volume 67:Number 5(2021) Page Start: 736 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Autologous Myoblasts for the Treatment of Fecal Incontinence: Results of a Phase 2 Randomized Placebo-controlled Study (MIAS). Issue 3 (March 2018) Authors: Boyer, Olivier; Bridoux, Valérie; Giverne, Camille; Bisson, Aurélie; Koning, Edith; Leroi, Anne-Marie; Chambon, Pascal; Déhayes, Justine; Le Corre, Stephanie; Jacquot, Serge; Bastit, Dominique; Martinet, Jérémie; Houivet, Estelle; Tuech, Jean-Jacques; Benichou, Jacques; Michot, Francis Journal: Annals of surgery Issue: Volume 267:Issue 3(2018:Mar.) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Chromosomal Instability but Lack of Transformation in Human Myoblast Preparations. Issue 12 (December 2014) Authors: Bisson, Aurélie; Le Corre, Stéphanie; Joly-Helas, Géraldine; Chambon, Pascal; Demoulins, Laetitia; Jean, Laetitia; Adriouch, Sahil; Drouot, Laurent; Giverne, Camille; Roussel, Francis; Jacquot, Serge; Doucet, Christelle; Michot, Francis; Lamacz, Marek; Frébourg, Thierry; Flaman, Jean-Michel; Boye... Journal: Cell transplantation Issue: Volume 23:Issue 12(2014) Page Start: 1475 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Evidence for high breakpoint variability in 46, XX, SRY‐positive testicular disorder and frequent ARSE deletion that may be associated with short stature. (7th September 2022) Authors: Capron, Céline; Januel, Louis; Vieville, Gaëlle; Jaillard, Sylvie; Kuentz, Paul; Salaun, Gaëlle; Nadeau, Gwenaël; Clement, Patrice; Brechard, Marie Pierre; Herve, Bérénice; Dupont, Jean Michel; Gruchy, Nicolas; Chambon, Pascal; Abdelhedi, Fatma; Dahlen, Eric; Vago, Philippe; Harbuz, Radu; Plotton... Journal: Andrology Issue: Volume 10:Number 8(2022) Page Start: 1625 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Haploinsufficiency of the Primary Familial Brain Calcification Gene SLC20A2 Mediated by Disruption of a Regulatory Element. Issue 8 (7th June 2020) Authors: Cassinari, Kévin; Rovelet‐Lecrux, Anne; Tury, Sandrine; Quenez, Olivier; Richard, Anne‐Claire; Charbonnier, Camille; Olaso, Robert; Boland, Anne; Deleuze, Jean‐François; Besancenot, Jean‐François; Delpont, Benoit; Pouliquen, Dorothée; Lecoquierre, François; Chambon, Pascal; Thauvin‐Robinet, Chris... Journal: Movement disorders Issue: Volume 35:Issue 8(2020) Page Start: 1336 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Pregnancy outcomes in prenatally diagnosed 47, XXX and 47, XYY syndromes: a 30‐year French, retrospective, multicentre study. (10th May 2016) Authors: Gruchy, Nicolas; Blondeel, Eleonore; Le Meur, Nathalie; Joly‐Hélas, Géraldine; Chambon, Pascal; Till, Marianne; Herbaux, Martine; Vigouroux‐Castera, Adeline; Coussement, Aurélie; Lespinasse, James; Amblard, Florence; Jimenez Pocquet, Mélanie; Lebel‐Roy, Camille; Carré‐Pigeon, Frédérique; Flori, E... Journal: Prenatal diagnosis Issue: Volume 36:Number 6(2016) Page Start: 523 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Recurrence of an early postzygotic rescue of an inherited unbalanced translocation resulting in mosaic segmental uniparental isodisomy of chromosome 11q in siblings. Issue 10 (27th May 2021) Authors: Blanluet, Maud; Chantot‐Bastaraud, Sandra; Chambon, Pascal; Cassinari, Kévin; Vera, Gabriella; Goldenberg, Alice; Keren, Boris; Le Meur, Nathalie; Hannequin, Didier; Mace, Bertrand; Siffroi, Jean‐Pierre; Frebourg, Thierry; Nicolas, Gaël; Joly‐Helas, Géraldine Journal: American journal of medical genetics Issue: Volume 185:Issue 10(2021) Page Start: 3057 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗