1. De novo NUF2 variant in a novel inherited bone marrow failure syndrome including microcephaly and renal hypoplasia. (16th September 2022) Authors: Vial, Yoann; Lainey, Elodie; Leblanc, Thierry; Baudouin, Véronique; Dourthe, Marie Emilie; Gressens, Pierre; Verloes, Alain; Cavé, Hélène; Drunat, Séverine Journal: British journal of haematology Issue: Volume 199:Number 5(2022) Page Start: 739 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Exudative retinopathy, cerebral calcifications, duodenal atresia, preaxial polydactyly, micropenis, microcephaly and short stature: A new syndrome?. Issue 8 (3rd July 2013) Authors: Isidor, Bertrand; Le Meur, Guylène; Conti, Carole; Caldagues, Emmanuelle; Lainey, Elodie; Launay, Elise; Leclair, Marc David; Le Francois, Thomas; Pichon, Olivier; Boisseau, Pierre; Migraine, Audrey; Keren, Boris; Caignec, Cédric Le; Crow, Yanick J; David, Albert Journal: American journal of medical genetics Issue: Volume 161:Issue 8(2013:Aug.) Page Start: 1829 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. First clinical description of a pedigree with complete NAF1 deletion. Issue 2 (28th January 2023) Authors: Galtier, Jean; Dimicoli-Salazar, Sophie; Trimouille, Aurélien; Lainey, Elodie; Revy, Patrick; Bidet, Audrey; Vial, Yoann; Forcade, Edouard; Negrier-Leibreich, Marie-Laure; Rivière, Etienne; Tinat, Julie; Le Meur, Nathalie; Ménard, Christelle; Pigneux, Arnaud; Leguay, Thibaut; Dumas, Pierre-Yves; ... Journal: Leukemia & lymphoma Issue: Volume 64:Issue 2(2023) Page Start: 487 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. First heterozygous NOP10 mutation in familial pulmonary fibrosis. Issue 6 (11th June 2020) Authors: Kannengiesser, Caroline; Manali, Effrosyni D.; Revy, Patrick; Callebaut, Isabelle; Ba, Ibrahima; Borgel, Adrien; Oudin, Claire; Haritou, Aggeliki; Kolilekas, Lykourgos; Malagari, Katerina; Borie, Raphael; Lainey, Elodie; Boileau, Catherine; Crestani, Bruno; Papiris, Spyros A. Journal: European respiratory journal Issue: Volume 55:Issue 6(2020) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Genome-edited, donor-derived allogeneic anti-CD19 chimeric antigen receptor T cells in paediatric and adult B-cell acute lymphoblastic leukaemia: results of two phase 1 studies. Issue 10266 (12th December 2020) Authors: Benjamin, Reuben; Graham, Charlotte; Yallop, Deborah; Jozwik, Agnieszka; Mirci-Danicar, Oana C; Lucchini, Giovanna; Pinner, Danielle; Jain, Nitin; Kantarjian, Hagop; Boissel, Nicolas; Maus, Marcela V; Frigault, Matthew J; Baruchel, André; Mohty, Mohamad; Gianella-Borradori, Athos; Binlich, Floren... Journal: Lancet Issue: Volume 396:Issue 10266(2020) Page Start: 1885 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Interstitial lung diseases associated with mutations of poly(A)‐specific ribonuclease: A multicentre retrospective study. Issue 3 (3rd January 2022) Authors: Philippot, Quentin; Kannengiesser, Caroline; Debray, Marie Pierre; Gauvain, Clément; Ba, Ibrahima; Vieri, Margherita; Gondouin, Anne; Naccache, Jean‐Marc; Reynaud‐Gaubert, Martine; Uzunhan, Yurdagul; Bondue, Benjamin; Israël‐Biet, Dominique; Dieudé, Philippe; Fourrage, Cécile; Lainey, Elodie; Man... Journal: Respirology Issue: Volume 27:Issue 3(2022) Page Start: 226 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Leukaemic transformation in a 10‐year‐old girl with SRP54 congenital neutropenia. (22nd June 2022) Authors: Calvo, Charlotte; Lainey, Elodie; Caye, Aurélie; Cuccuini, Wendy; Fenneteau, Odile; Yakouben, Karima; Bellanné‐Chantelot, Christine; Baruchel, André; Dalle, Jean‐Hugues; Leblanc, Thierry Journal: British journal of haematology Issue: Volume 198:Number 6(2022) Page Start: 1069 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. NHP2 deficiency impairs rRNA biogenesis and causes pulmonary fibrosis and Høyeraal–Hreidarsson syndrome. (27th January 2020) Authors: Benyelles, Maname; O'Donohue, Marie-Françoise; Kermasson, Laëtitia; Lainey, Elodie; Borie, Raphael; Lagresle-Peyrou, Chantal; Nunes, Hilario; Cazelles, Clarisse; Fourrage, Cécile; Ollivier, Emmanuelle; Marcais, Ambroise; Gamez, Anne-Sophie; Morice-Picard, Fanny; Caillaud, Denis; Pottier, Nicolas;... Journal: Human molecular genetics Issue: Volume 29:Number 6(2020) Page Start: 907 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Pneumocystosis revealing immunodeficiency secondary to TERC mutation. Issue 5 (23rd November 2017) Authors: Borie, Raphael; Kannengiesser, Caroline; Sicre de Fontbrune, Flore; Boutboul, David; Tabeze, Laure; Brunet, Florence; Lainey, Elodie; Debray, Marie Pierre; Cazes, Aurélie; Crestani, Bruno Journal: European respiratory journal Issue: Volume 50:Issue 5(2017) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Relevance of Howell‐Jolly body counts for measuring spleen function in sickle cell disease. Issue 5 (27th February 2023) Authors: Pourdieu, Charlotte; El Hoss, Sara; Le Roux, Enora; Pages, Justine; Koehl, Bérengère; Missud, Florence; Holvoet, Laurent; Ithier, Ghislaine; Benkerrou, Malika; Haouari, Zinedine; Da Costa, Lydie; El Nemer, Wassim; Laurance, Sandrine; Aronovicz, Yves Colin; Le Van Kim, Caroline; Fenneteau, Odile; ... Journal: American journal of hematology Issue: Volume 98:Issue 5(2023) Page Start: E110 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗