1. Clinical and molecular findings in 39 patients with KBG syndrome caused by deletion or mutation of ANKRD11. Issue 11 (8th September 2016) Authors: Goldenberg, Alice; Riccardi, Florence; Tessier, Aude; Pfundt, Rolph; Busa, Tiffany; Cacciagli, Pierre; Capri, Yline; Coutton, Charles; Delahaye‐Duriez, Andree; Frebourg, Thierry; Gatinois, Vincent; Guerrot, Anne‐Marie; Genevieve, David; Lecoquierre, Francois; Jacquette, Aurélia; Khau Van Kien, Ph... Journal: American journal of medical genetics Issue: Volume 170:Issue 11(2016) Page Start: 2847 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Expanding the phenotypic spectrum of variants in PDE4D/PRKAR1A: from acrodysostosis to acroscyphodysplasia. (November 2018) Authors: Michot, Caroline; Goff, Carine; Blair, Edward; Blanchet, Patricia; Capri, Yline; Gilbert-Dussardier, Brigitte; Goldenberg, Alice; Henderson, Alex; Isidor, Bertrand; Kayserili, Hulya; Kinning, Esther; Merrer, Martine; Lyonnet, Stanislas; Odent, Sylvie; Simsek-Kiper, Pelin; Quelin, Chloé; Savariray... Journal: European journal of human genetics Issue: Volume 26:Number 11(2018) Page Start: 1611 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. The oculoauriculofrontonasal syndrome: Further clinical characterization and additional evidence suggesting a nontraditional mode of inheritance. Issue 12 (10th December 2018) Authors: Lehalle, Daphné; Altunoglu, Umut; Bruel, Ange‐Line; Assoum, Mirna; Duffourd, Yannis; Masurel, Alice; Baujat, Geneviève; Bessieres, Bettina; Captier, Guillaume; Edery, Patrick; Elçioğlu, Nursel H.; Geneviève, David; Goldenberg, Alice; Héron, Delphine; Grotto, Sarah; Marlin, Sandrine; Putoux, Audre... Journal: American journal of medical genetics Issue: Volume 176:Issue 12(2018) Page Start: 2740 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. A novel recurrent LIS1 splice site mutation in classic lissencephaly. Issue 2 (27th November 2016) Authors: Philbert, Marion; Maillard, Camille; Cavallin, Mara; Goldenberg, Alice; Masson, Cecile; Boddaert, Nathalie; El Morjani, Adrienne; Steffann, Julie; Chelly, Jamel; Gerard, Xavier; Bahi‐Buisson, Nadia Journal: American journal of medical genetics Issue: Volume 173:Issue 2(2017) Page Start: 561 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Confirmation and further delineation of the SMG9‐deficiency syndrome, a rare and severe developmental disorder. Issue 11 (7th August 2019) Authors: Lecoquierre, François; Bonnevalle, Antoine; Chadie, Alexandra; Gayet, Claire; Dumant‐Forest, Clémentine; Renaux‐Petel, Mariette; Leca, Jean‐Baptiste; Hazelzet, Tristan; Brasseur‐Daudruy, Marie; Louillet, Ferielle; Muraine, Marc; Coutant, Sophie; Quenez, Olivier; Boland, Anne; Deleuze, Jean‐Franço... Journal: American journal of medical genetics Issue: Volume 179:Issue 11(2019) Page Start: 2257 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Growth charts in Kabuki syndrome 1. Issue 3 (26th December 2019) Authors: Ruault, Valentin; Corsini, Carole; Duflos, Claire; Akouete, Sandrine; Georgescu, Véra; Abaji, Mario; Alembick, Yves; Alix, Eudeline; Amiel, Jeanne; Amouroux, Cyril; Barat‐Houari, Mouna; Baumann, Clarisse; Bonnard, Adeline; Boursier, Guilaine; Boute, Odile; Burglen, Lydie; Busa, Tiffany; Cordier, ... Journal: American journal of medical genetics Issue: Volume 182:Issue 3(2020) Page Start: 446 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Molecular and cellular issues of KMT2A variants involved in Wiedemann-Steiner syndrome. (January 2018) Authors: Lebrun, Nicolas; Giurgea, Irina; Goldenberg, Alice; Dieux, Anne; Afenjar, Alexandra; Ghoumid, Jamal; Diebold, Bertrand; Mietton, Léo; Briand-Suleau, Audrey; Billuart, Pierre; Bienvenu, Thierry Journal: European journal of human genetics Issue: Volume 26:Number 1(2018) Page Start: 107 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Maternal Transmission Ratio Distortion of GNAS Loss‐of‐Function Mutations. (13th January 2020) Authors: Snanoudj, Sarah; Molin, Arnaud; Colson, Cindy; Coudray, Nadia; Paulien, Sylvie; Mittre, Hervé; Gérard, Marion; Schaefer, Elise; Goldenberg, Alice; Bacchetta, Justine; Odent, Sylvie; Naudion, Sophie; Demeer, Bénédicte; Faivre, Laurence; Gruchy, Nicolas; Kottler, Marie‐Laure; Richard, Nicolas Journal: Journal of bone and mineral research Issue: Volume 35:Number 5(2020) Page Start: 913 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. De novo heterozygous missense and loss‐of‐function variants in CDC42BPB are associated with a neurodevelopmental phenotype. Issue 5 (7th February 2020) Authors: Chilton, Ilana; Okur, Volkan; Vitiello, Giuseppina; Selicorni, Angelo; Mariani, Milena; Goldenberg, Alice; Husson, Thomas; Campion, Dominique; Lichtenbelt, Klaske D.; van Gassen, Koen; Steinraths, Michelle; Rice, Jennifer; Roeder, Elizabeth R.; Littlejohn, Rebecca O.; Srour, Myriam; Sebire, Guill... Journal: American journal of medical genetics Issue: Volume 182:Issue 5(2020) Page Start: 962 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. TAR syndrome: Clinical and molecular characterization of a cohort of 26 patients and description of novel noncoding variants of RBM8A. Issue 7 (6th April 2020) Authors: Boussion, Simon; Escande, Fabienne; Jourdain, Anne‐Sophie; Smol, Thomas; Brunelle, Perrine; Duhamel, Céline; Alembik, Yves; Attié‐Bitach, Tania; Baujat, Geneviève; Bazin, Anne; Bonnière, Maryse; Carassou, Philippe; Carles, Dominique; Devisme, Louise; Goizet, Cyril; Goldenberg, Alice; Grotto, Sara... Journal: Human mutation Issue: Volume 41:Issue 7(2020) Page Start: 1220 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗