1. Expanding the SRI domain family: A common scaffold for binding the phosphorylated C‐terminal domain of RNA polymerase II. Issue 23 (18th October 2014) Authors: Rebehmed, Joseph; Revy, Patrick; Faure, Guilhem; de Villartay, Jean-Pierre; Callebaut, Isabelle Journal: FEBS letters Issue: Volume 588:Issue 23(2014) Page Start: 4431 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. 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) ↗
3. 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) ↗
4. Full length RTEL1 is required for the elongation of the single-stranded telomeric overhang by telomerase. Issue 13 (15th June 2020) Authors: Awad, Aya; Glousker, Galina; Lamm, Noa; Tawil, Shadi; Hourvitz, Noa; Smoom, Riham; Revy, Patrick; Tzfati, Yehuda Journal: Nucleic acids research Issue: Volume 48:Issue 13(2020) Page Start: 7239 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Impaired telomere integrity and rRNA biogenesis in PARN‐deficient patients and knock‐out models. Issue 7 (6th June 2019) Authors: Benyelles, Maname; Episkopou, Harikleia; O'Donohue, Marie‐Françoise; Kermasson, Laëtitia; Frange, Pierre; Poulain, Florian; Burcu Belen, Fatma; Polat, Meltem; Bole‐Feysot, Christine; Langa‐Vives, Francina; Gleizes, Pierre‐Emmanuel; de Villartay, Jean‐Pierre; Callebaut, Isabelle; Decottignies, Ana... Journal: EMBO molecular medicine Issue: Volume 11:Issue 7(2019) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Mutations of the RTEL1 Helicase in a Hoyeraal‐Hreidarsson Syndrome Patient Highlight the Importance of the ARCH Domain. Issue 5 (23rd February 2016) Authors: Jullien, Laurent; Kannengiesser, Caroline; Kermasson, Laetitia; Cormier‐Daire, Valérie; Leblanc, Thierry; Soulier, Jean; Londono‐Vallejo, Arturo; de Villartay, Jean‐Pierre; Callebaut, Isabelle; Revy, Patrick Journal: Human mutation Issue: Volume 37:Issue 5(2016) Page Start: 469 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. 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) ↗
8. Prevalence and characteristics of TERT and TERC mutations in suspected genetic pulmonary fibrosis. Issue 6 (11th November 2016) Authors: Borie, Raphael; Tabèze, Laure; Thabut, Gabriel; Nunes, Hilario; Cottin, Vincent; Marchand-Adam, Sylvain; Prevot, Grégoire; Tazi, Abdellatif; Cadranel, Jacques; Mal, Herve; Wemeau-Stervinou, Lidwine; Bergeron Lafaurie, Anne; Israel-Biet, Dominique; Picard, Clement; Reynaud Gaubert, Martine; Jounea... Journal: European respiratory journal Issue: Volume 48:Issue 6(2016) Page Start: 1721 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Primary Microcephaly, Impaired DNA Replication, and Genomic Instability Caused by Compound Heterozygous ATR Mutations. Issue 2 (20th December 2012) Authors: Mokrani‐Benhelli, Houda; Gaillard, Laetitia; Biasutto, Patricia; Le Guen, Tangui; Touzot, Fabien; Vasquez, Nadia; Komatsu, Jun; Conseiller, Emmanuel; Pïcard, Capucine; Gluckman, Eliane; Francannet, Christine; Fischer, Alain; Durandy, Anne; Soulier, Jean; de Villartay, Jean‐Pierre; Cavazzana‐Calvo... Journal: Human mutation Issue: Volume 34:Issue 2(2013:Feb.) Page Start: 374 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Regulator of telomere length 1 (RTEL1) mutations are associated with heterogeneous pulmonary and extra-pulmonary phenotypes. Issue 2 (7th February 2019) Authors: Borie, Raphael; Bouvry, Diane; Cottin, Vincent; Gauvain, Clement; Cazes, Aurélie; Debray, Marie-Pierre; Cadranel, Jacques; Dieude, Philippe; Degot, Tristan; Dominique, Stephane; Gamez, Anne Sophie; Jaillet, Madeleine; Juge, Pierre-Antoine; Londono-Vallejo, Arturo; Mailleux, Arnaud; Mal, Hervé; Bo... Other Names: Callebaut Isabelle author non-byline.; Amar Smail author non-byline.; Magois Eline author non-byline.; Plessier Aurélie author non-byline.; Brillet Pierre-Yves author non-byline.; Kambouchner Marianne author non-byline.; Valeyre Dominique author non-byline.; Uzunhan Yurdagul author non-byline.; D... Journal: European respiratory journal Issue: Volume 53:Issue 2(2019) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗