1. 16p13.11 microduplication in 45 new patients: refined clinical significance and genotype–phenotype correlations. Issue 5 (4th October 2018) Authors: Allach El Khattabi, Laïla; Heide, Solveig; Caberg, Jean-Hubert; Andrieux, Joris; Doco Fenzy, Martine; Vincent-Delorme, Caroline; Callier, Patrick; Chantot-Bastaraud, Sandra; Afenjar, Alexandra; Boute-Benejean, Odile; Cordier, Marie Pierre; Faivre, Laurence; Francannet, Christine; Gerard, Marion; ... Journal: Journal of medical genetics Issue: Volume 57:Issue 5(2020) Page Start: 301 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Chromosomal microarray analysis in ocular developmental anomalies. (June 2012) Authors: Delahaye, Andrée; Pipiras, Eva; Benzacken, Brigitte Journal: Expert review of molecular diagnostics Issue: Volume 12:Number 5(2012) Page Start: 425 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Chromosomal microarray analysis in ocular developmental anomalies. (June 2012) Authors: Delahaye, Andrée; Pipiras, Eva; Benzacken, Brigitte Journal: Expert review of molecular diagnostics Issue: Volume 12:Number 5(2012) Page Start: 425 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Clinical and molecular delineation of Tetrasomy 9p syndrome: Report of 12 new cases and literature review. (2nd April 2015) Authors: El Khattabi, Laïla; Jaillard, Sylvie; Andrieux, Joris; Pasquier, Laurent; Perrin, Laurence; Capri, Yline; Benmansour, Abdelmadjid; Toutain, Annick; Marcorelles, Pascale; Vincent‐Delorme, Catherine; Journel, Hubert; Henry, Catherine; De Barace, Claire; Devisme, Louise; Dubourg, Christèle; Demurger... Journal: American journal of medical genetics Issue: Volume 167:Number 6(2015:Jun.) Page Start: 1252 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Early-Onset Cerebral Amyloid Angiopathy and Alzheimer Disease Related to an APP Locus Triplication. (8th October 2021) Authors: Grangeon, Lou; Cassinari, Kévin; Rousseau, Stéphane; Croisile, Bernard; Formaglio, Maïté; Moreaud, Olivier; Boutonnat, Jean; Le Meur, Nathalie; Miné, Manuele; Coste, Thibault; Pipiras, Eva; Tournier-Lasserve, Elisabeth; Rovelet-Lecrux, Anne; Campion, Dominique; Wallon, David; Nicolas, Gael Journal: Neurology Issue: Volume 7:Number 5(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Early-Onset Cerebral Amyloid Angiopathy and Alzheimer Disease Related to an APP Locus Triplication. (October 2021) Authors: Grangeon, Lou; Cassinari, Kévin; Rousseau, Stéphane; Croisile, Bernard; Formaglio, Maïté; Moreaud, Olivier; Boutonnat, Jean; Le Meur, Nathalie; Miné, Manuele; Coste, Thibault; Pipiras, Eva; Tournier-Lasserve, Elisabeth; Rovelet-Lecrux, Anne; Campion, Dominique; Wallon, David; Nicolas, Gael Journal: Neurology Issue: Volume 7:Number 5(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. 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) ↗
8. New evidence that biallelic loss of function in EEF1B2 gene leads to intellectual disability. Issue 4 (7th January 2020) Authors: Larcher, Lise; Buratti, Julien; Héron‐Longe, Bénédicte; Benzacken, Brigitte; Pipiras, Eva; Keren, Boris; Delahaye‐Duriez, Andrée Journal: Clinical genetics Issue: Volume 97:Issue 4(2020) Page Start: 639 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. WWOX-related encephalopathies: delineation of the phenotypical spectrum and emerging genotype-phenotype correlation. Issue 1 (19th November 2014) Authors: Mignot, Cyril; Lambert, Laetitia; Pasquier, Laurent; Bienvenu, Thierry; Delahaye-Duriez, Andrée; Keren, Boris; Lefranc, Jérémie; Saunier, Aline; Allou, Lila; Roth, Virginie; Valduga, Mylène; Moustaïne, Aissa; Auvin, Stéphane; Barrey, Catherine; Chantot-Bastaraud, Sandra; Lebrun, Nicolas; Moutard,... Journal: Journal of medical genetics Issue: Volume 52:Issue 1(2015) Page Start: 61 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Xq28 copy number gain causing moyamoya disease and a novel moyamoya syndrome. Issue 5 (10th January 2020) Authors: Aloui, Chaker; Guey, Stéphanie; Pipiras, Eva; Kossorotoff, Manoelle; Guéden, Sophie; Corpechot, Michaelle; Bessou, Pierre; Pedespan, Jean-Michel; Husson, Marie; Hervé, Dominique; Riant, Florence; Kraemer, Markus; Steffann, Julie; Quenez, Olivier; Tournier-Lasserve, Elisabeth Journal: Journal of medical genetics Issue: Volume 57:Issue 5(2020) Page Start: 339 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗