1. A novel X-linked recessive form of Mendelian susceptibility to mycobaterial disease. Issue 2 (9th February 2007) Authors: Bustamante, Jacinta; Picard, Capucine; Fieschi, Claire; Filipe-Santos, Orchidée; Feinberg, Jacqueline; Perronne, Christian; Chapgier, Ariane; de Beaucoudrey, Ludovic; Vogt, Guillaume; Sanlaville, Damien; Lemainque, Arnaud; Emile, Jean-François; Abel, Laurent; Casanova, Jean-Laurent Journal: Journal of medical genetics Issue: Volume 44:Issue 2(2007) Page Start: e65 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A RAB27A duplication in several cases of Griscelli syndrome type 2: An explanation for cases lacking a genetic diagnosis. Issue 10 (19th June 2017) Authors: Grandin, Virginie; Sepulveda, Fernando E; Lambert, Nathalie; Al Zahrani, Mofareh; Al Idrissi, Eman; Al‐Mousa, Hamoud; Almanjomi, Fahd; Al‐Ghonaium, Abdulaziz; K. Habazi, Murad; A. Alghamdi, Hamza; Picard, Capucine; Bole‐Feysot, Christine; Nitschke, Patrick; Ménasché, Gaël; de Saint Basile, Geneviève Journal: Human mutation Issue: Volume 38:Issue 10(2017) Page Start: 1355 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Addressing diagnostic challenges in primary immunodeficiencies: Laboratory evaluation of Toll-like receptor- and NF-κB-mediated immune responses. (April 2014) Authors: Frans, Glynis; Meyts, Isabelle; Picard, Capucine; Puel, Anne; Zhang, Shen-Ying; Moens, Leen; Wuyts, Greet; Van der Werff Ten Bosch, Jutte; Casanova, Jean-Laurent; Bossuyt, Xavier Journal: Critical reviews in clinical laboratory sciences Issue: Volume 51:Number 2(2014:Mar./Apr.) Page Start: 112 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Break down the barriers of auto‐inflammation: How to deal with a monogenic auto‐inflammatory disease and immuno‐haematological features in 2022?. Issue 1 (3rd October 2022) Authors: Vergneault, Hélène; Picard, Capucine; Georgin‐Lavialle, Sophie Journal: Immunology Issue: Volume 168:Issue 1(2023) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. B‐cell subpopulations in children: National reference values. Issue 3 (31st July 2014) Authors: Duchamp, Marie; Sterlin, Delphine; Diabate, Aminata; Uring‐Lambert, Béatrice; Guérin‐El Khourouj, Valérie; Le Mauff, Brigitte; Monnier, Delphine; Malcus, Christophe; Labalette, Myriam; Picard, Capucine Journal: Immunity, inflammation and disease Issue: Volume 2:Issue 3(2014) Page Start: 131 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Chronic granulomatous skin lesions leading to a diagnosis of TAP1 deficiency syndrome. Issue 6 (6th September 2018) Authors: Law‐Ping‐Man, Sarah; Toutain, Fabienne; Rieux‐Laucat, Frédéric; Picard, Capucine; Kammerer‐Jacquet, Solène; Magérus‐Chatinet, Aude; Dupuy, Alain; Adamski, Henri Journal: Pediatric dermatology Issue: Volume 35:Issue 6(2018) Page Start: e375 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Comparative methylome analysis of ICF patients identifies heterochromatin loci that require ZBTB24, CDCA7 and HELLS for their methylated state. (12th April 2018) Authors: Velasco, Guillaume; Grillo, Giacomo; Touleimat, Nizar; Ferry, Laure; Ivkovic, Ivana; Ribierre, Florence; Deleuze, Jean-François; Chantalat, Sophie; Picard, Capucine; Francastel, Claire Journal: Human molecular genetics Issue: Volume 27:Number 14(2018:Jul. 15) Page Start: 2409 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Contribution of high‐throughput DNA sequencing to the study of primary immunodeficiencies. Issue 10 (12th September 2014) Authors: Picard, Capucine; Fischer, Alain Journal: European journal of immunology Issue: Volume 44:Issue 10(2014:Oct.) Page Start: 2854 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Corrigendum to: Diagnostic Yield of Next-Generation Sequencing in Very Early-Onset Inflammatory Bowel Diseases: A Multicenter Study. (8th September 2020) Authors: Charbit-Henrion, Fabienne; Parlato, Marianna; Hanein, Sylvain; Duclaux-Loras, Rémi; Nowak, Jan; Begue, Bernadette; Rakotobe, Sabine; Bruneau, Julie; Fourrage, Cécile; Alibeu, Olivier; Rieux-Laucat, Frédéric; Lévy, Eva; Stolzenberg, Marie-Claude; Mazerolles, Fabienne; Latour, Sylvain; Lenoir, Chri... Journal: Journal of Crohn's and colitis Issue: Volume 15:Number 3(2021) Page Start: 517 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Deficiency of Interleukin-1 Receptor-associated Kinase 4 Presenting as Fatal Pseudomonas aeruginosa Bacteremia in Two Siblings. Issue 3 (March 2015) Authors: Stergiopoulou, Theodouli; Walsh, Thomas J.; Seghaye, Marie-Christine; Netea, Mihai G.; Casanova, Jean-Laurent; Moutschen, Michel; Picard, Capucine Journal: Pediatric infectious disease journal Issue: Volume 34:Issue 3(2015) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗