1. Homozygous IL36RN mutation and NSD1 duplication in a patient with severe pustular psoriasis and symptoms unrelated to deficiency of interleukin‐36 receptor antagonist. (1st January 2015) Authors: Carapito, R.; Isidor, B.; Guerouaz, N.; Untrau, M.; Radosavljevic, M.; Launay, E.; Cassagnau, E.; Frenard, C.; Aubert, H.; Romefort, B.; Le Caignec, C.; Ott, L.; Paul, N.; Barbarot, S.; Bahram, S. Journal: British journal of dermatology Issue: Volume 172:Number 1(2015:Jan.) Page Start: 302 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Homozygous IL36RN mutation and NSD1 duplication in a patient with severe pustular psoriasis and symptoms unrelated to deficiency of interleukin‐36 receptor antagonist. (8th December 2014) Authors: Carapito, R.; Isidor, B.; Guerouaz, N.; Untrau, M.; Radosavljevic, M.; Launay, E.; Cassagnau, E.; Frenard, C.; Aubert, H.; Romefort, B.; Le Caignec, C.; Ott, L.; Paul, N.; Barbarot, S.; Bahram, S. Journal: British journal of dermatology Issue: Volume 172:Number 1(2015:Jan.) Page Start: 302 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Recurrent mutation in the PIEZO1 gene in two families of hereditary xerocytosis with fetal hydrops. (14th April 2013) Authors: Beneteau, C.; Thierry, G.; Blesson, S.; Le Vaillant, C.; Picard, V.; Béné, M.C.; Eveillard, M.; Le Caignec, C. Journal: Clinical genetics Issue: Volume 85:Number 3(2014:Mar.) Page Start: 293 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Split hand/foot malformation with long‐bone deficiency and BHLHA9 duplication: report of 13 new families. (15th July 2013) Authors: Petit, F.; Jourdain, A.‐S.; Andrieux, J.; Baujat, G.; Baumann, C.; Beneteau, C.; David, A.; Faivre, L.; Gaillard, D.; Gilbert‐Dussardier, B.; Jouk, P.‐S.; Le Caignec, C.; Loget, P.; Pasquier, L.; Porchet, N.; Holder‐Espinasse, M.; Manouvrier‐Hanu, S.; Escande, F. Journal: Clinical genetics Issue: Volume 85:Number 5(2014:May) Page Start: 464 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗