1. A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvement. Issue 2 (26th October 2015) Authors: Prasad, Megana K; Geoffroy, Véronique; Vicaire, Serge; Jost, Bernard; Dumas, Michael; Le Gras, Stéphanie; Switala, Marzena; Gasse, Barbara; Laugel-Haushalter, Virginie; Paschaki, Marie; Leheup, Bruno; Droz, Dominique; Dalstein, Amelie; Loing, Adeline; Grollemund, Bruno; Muller-Bolla, Michèle; Lop... Journal: Journal of medical genetics Issue: Volume 53:Issue 2(2016) Page Start: 98 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Congenital Nemaline Myopathy with Dense Protein Masses. Issue 4 (9th February 2022) Authors: Bevilacqua, Jorge A; Malfatti, Edoardo; Labasse, Clémence; Brochier, Guy; Madelaine, Angeline; Lacène, Emmanuelle; Doray, Bérénice; Laforêt, Pascal; Eymard, Bruno; Rendu, John; Romero, Norma B Journal: Journal of neuropathology and experimental neurology Issue: Volume 81:Issue 4(2022) Page Start: 304 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Congenital unilateral renal agenesis: Prevalence, prenatal diagnosis, associated anomalies. Data from two birth‐defect registries. Issue 15 (19th July 2017) Authors: Laurichesse Delmas, Hélène; Kohler, Monique; Doray, Bérénice; Lémery, Didier; Francannet, Christine; Quistrebert, Jocelyn; Marie, Cécile; Perthus, Isabelle Journal: Birth defects research Issue: Volume 109:Issue 15(2017) Page Start: 1204 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Congenital Zika syndrome: time to move from case series to case-control studies and data sharing. (14th September 2016) Authors: Gérardin, Patrick; Randrianaivo, Hanitra; Schaub, Bruno; Césaire, Raymond; Doray, Bérénice; LaBeaud, A Désirée Journal: BMJ Issue: Volume 354(2016) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Cornelia de Lange individuals with new and recurrent SMC1A mutations enhance delineation of mutation repertoire and phenotypic spectrum. Issue 11 (2nd October 2013) Authors: Gervasini, Cristina; Russo, Silvia; Cereda, Anna; Parenti, Ilaria; Masciadri, Maura; Azzollini, Jacopo; Melis, Daniela; Aravena, Teresa; Doray, Bérénice; Ferrarini, Alessandra; Garavelli, Livia; Selicorni, Angelo; Larizza, Lidia Journal: American journal of medical genetics Issue: Volume 161:Issue 11(2013:Nov.) Page Start: 2909 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Deep intronic NIPBL de novo mutations and differential diagnoses revealed by whole genome and RNA sequencing in Cornelia de Lange syndrome patients. Issue 12 (23rd July 2022) Authors: Coursimault, Juliette; Cassinari, Kévin; Lecoquierre, François; Quenez, Olivier; Coutant, Sophie; Derambure, Céline; Vezain, Myriam; Drouot, Nathalie; Vera, Gabriella; Schaefer, Elise; Philippe, Anaïs; Doray, Bérénice; Lambert, Laëtitia; Ghoumid, Jamal; Smol, Thomas; Rama, Mélanie; Legendre, Mari... Journal: Human mutation Issue: Volume 43:Issue 12(2022) Page Start: 1882 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Diagnostic approach to neurotransmitter monoamine disorders: experience from clinical, biochemical, and genetic profiles. Issue 1 (18th September 2017) Authors: Kuster, Alice; Arnoux, Jean‐Baptiste; Barth, Magalie; Lamireau, Delphine; Houcinat, Nada; Goizet, Cyril; Doray, Bérénice; Gobin, Stéphanie; Schiff, Manuel; Cano, Aline; Amsallem, Daniel; Barnerias, Christine; Chaumette, Boris; Plaze, Marion; Slama, Abdelhamid; Ioos, Christine; Desguerre, Isabelle... Journal: Journal of inherited metabolic disease Issue: Volume 41:Issue 1(2018) Page Start: 129 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Discordant malformations in monochorionic twins: a retrospective cohort study in La Reunion Island. (16th December 2020) Authors: Homatter, Céline; Robillard, Pierre-Yves; Omarjee, Asma; Schweizer, Chloé; Boukerrou, Malik; Cuillier, Fabrice; Doray, Bérénice; Randrianaivo, Hanitra; Bertaut-Nativel, Bénédicte; Dumont, Coralie Journal: Journal of maternal-fetal & neonatal medicine Issue: Volume 33:Number 24(2020) Page Start: 4069 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing. Issue 11 (28th August 2014) Authors: Redin, Claire; Gérard, Bénédicte; Lauer, Julia; Herenger, Yvan; Muller, Jean; Quartier, Angélique; Masurel-Paulet, Alice; Willems, Marjolaine; Lesca, Gaétan; El-Chehadeh, Salima; Le Gras, Stéphanie; Vicaire, Serge; Philipps, Muriel; Dumas, Michaël; Geoffroy, Véronique; Feger, Claire; Haumesser, N... Journal: Journal of medical genetics Issue: Volume 51:Issue 11(2014) Page Start: 724 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Familial transmission of chromoanagenesis leads to unpredictable unbalanced rearrangements through meiotic recombination. Issue 4 (19th January 2023) Authors: Masson, Julie; Pebrel‐Richard, Céline; Egloff, Matthieu; Frétigny, Mathilde; Beaumont, Marion; Uguen, Kevin; Rollat‐Farnier, Pierre‐Antoine; Diguet, Flavie; Perthus, Isabelle; Le Gudayer, Gwenaël; Haye, Damien; Dupeyron, Marie‐Noëlle Bonnet; Putoux, Audrey; Raskin‐Champion, Fabienne; Till, Marian... Journal: Clinical genetics Issue: Volume 103:Issue 4(2023) Page Start: 401 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗