1. Clinical and genomic delineation of the new proximal 19p13.3 microduplication syndrome. Issue 1 (5th October 2022) Authors: Jouret, Guillaume; Egloff, Matthieu; Landais, Emilie; Tassy, Olivier; Giuliano, Fabienne; Karmous‐Benailly, Houda; Coutton, Charles; Satre, Véronique; Devillard, Françoise; Dieterich, Klaus; Vieville, Gaëlle; Kuentz, Paul; le Caignec, Cédric; Beneteau, Claire; Isidor, Bertrand; Nizon, Mathilde; C... Journal: American journal of medical genetics Issue: Volume 191:Issue 1(2023) Page Start: 52 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. EPHA7 haploinsufficiency is associated with a neurodevelopmental disorder. Issue 4 (1st July 2021) Authors: Lévy, Jonathan; Schell, Bérénice; Nasser, Hala; Rachid, Myriam; Ruaud, Lyse; Couque, Nathalie; Callier, Patrick; Faivre, Laurence; Marle, Nathalie; Engwerda, Aafke; van Ravenswaaij‐Arts, Conny M. A.; Plutino, Morgane; Karmous‐Benailly, Houda; Benech, Caroline; Redon, Sylvia; Boute, Odile; Boudry ... Journal: Clinical genetics Issue: Volume 100:Issue 4(2021) Page Start: 396 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Expanding and Underscoring the Hepato‐Encephalopathic Phenotype of QIL1/MIC13. Issue 3 (16th May 2019) Authors: Russell, Bianca E.; Whaley, Kaitlin G.; Bove, Kevin E.; Labilloy, Anatalia; Lombardo, Rachel C.; Hopkin, Robert J.; Leslie, Nancy D.; Prada, Carlos; Assouline, Zahra; Barcia, Giulia; Bouchereau, Juliette; Chomton, Maryline; Debray, Dominique; Dorboz, Imen; Durand, Philippe; Gaignard, Pauline; Hab... Journal: Hepatology Issue: Volume 70:Issue 3(2019) Page Start: 1066 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Heterozygous variants in ZBTB7A cause a neurodevelopmental disorder associated with symptomatic overgrowth of pharyngeal lymphoid tissue, macrocephaly, and elevated fetal hemoglobin. Issue 1 (13th September 2021) Authors: von der Lippe, Charlotte; Tveten, Kristian; Prescott, Trine E.; Holla, Øystein L.; Busk, Øyvind L.; Burke, Katherine B.; Sansbury, Francis H.; Baptista, Júlia; Fry, Andrew E.; Lim, Derek; Jolles, Stephen; Evans, Jennifer; Osio, Deborah; Macmillan, Carol; Bruno, Irene; Faletra, Flavio; Climent, Sa... Journal: American journal of medical genetics Issue: Volume 188:Issue 1(2022) Page Start: 272 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Identification of mobile retrocopies during genetic testing: Consequences for routine diagnosis. Issue 11 (12th July 2019) Authors: Chatron, Nicolas; Cassinari, Kevin; Quenez, Olivier; Baert‐Desurmont, Stéphanie; Bardel, Claire; Buisine, Marie‐Pierre; Calpena, Eduardo; Capri, Yline; Corominas Galbany, Jordi; Diguet, Flavie; Edery, Patrick; Isidor, Bertrand; Labalme, Audrey; Le Caignec, Cedric; Lévy, Jonathan; Lecoquierre, Fra... Journal: Human mutation Issue: Volume 40:Issue 11(2019) Page Start: 1993 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Involvement of interstitial telomeric sequences in two new cases of mosaicism for autosomal structural rearrangements. (26th November 2014) Authors: Lévy, Jonathan; Receveur, Aline; Jedraszak, Guillaume; Chantot‐Bastaraud, Sandra; Renaldo, Florence; Gondry, Jean; Andrieux, Joris; Copin, Henri; Siffroi, Jean‐Pierre; Portnoï, Marie‐France Journal: American journal of medical genetics Issue: Volume 167:Number 2(2015:Feb.) Page Start: 428 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. LEF1 haploinsufficiency causes ectodermal dysplasia. Issue 4 (17th February 2020) Authors: Lévy, Jonathan; Capri, Yline; Rachid, Myriam; Dupont, Céline; Vermeesch, Joris R.; Devriendt, Koen; Verloes, Alain; Tabet, Anne‐Claude; Bailleul‐Forestier, Isabelle Journal: Clinical genetics Issue: Volume 97:Issue 4(2020) Page Start: 595 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Molecular and clinical delineation of 2p15p16.1 microdeletion syndrome. Issue 8 (1st June 2017) Authors: Lévy, Jonathan; Coussement, Aurélie; Dupont, Céline; Guimiot, Fabien; Baumann, Clarisse; Viot, Géraldine; Passemard, Sandrine; Capri, Yline; Drunat, Séverine; Verloes, Alain; Pipiras, Eva; Benzacken, Brigitte; Dupont, Jean‐Michel; Tabet, Anne‐Claude Journal: American journal of medical genetics Issue: Volume 173:Issue 8(2017) Page Start: 2081 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Prenatal Diagnosis of Bilateral Ectrodactyly and Radial Agenesis Associated with Trisomy 10 Mosaicism. (13th January 2013) Authors: Lévy, Jonathan; Jouannic, Jean-Marie; Saada, Julien; Dhombres, Ferdinand; Siffroi, Jean-Pierre; Portnoï, Marie-France Other Names: Fenger M. Academic Editor.; Morrison P. Academic Editor. Journal: Case reports in genetics Issue: Volume 2013(2013) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Rare and de novo duplications containing TCF20 are associated with a neurodevelopmental disorder. Issue 3 (28th December 2021) Authors: Lévy, Jonathan; Cogan, Guillaume; Maruani, Anna; Maillard, Arnaud; Dupont, Céline; Drunat, Séverine; Rachid, Myriam; Atzori, Paola; Delorme, Richard; Jeyarajah, Sabatini; Isidor, Bertrand; Pichon, Olivier; Moradkhani, Kamran; Verloes, Alain; Tabet, Anne‐Claude Journal: Clinical genetics Issue: Volume 101:Issue 3(2022) Page Start: 364 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗