1. Adding evidence to the role of NEUROG1 in congenital cranial dysinnervation disorders. Issue 4 (20th January 2021) Authors: Dupont, Juliette; Vieira, José Pedro; Tavares, Ana Lisa Taylor; Conceição, Carla Ribeiro; Khan, Suliman; Bertoli‐Avella, Aida Maria; Sousa, Ana Berta Journal: Clinical genetics Issue: Volume 99:Issue 4(2021) Page Start: 588 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Germline Loss-of-Function Mutations in EPHB4 Cause a Second Form of Capillary Malformation-Arteriovenous Malformation (CM-AVM2) Deregulating RAS-MAPK Signaling. Issue 11 (12th September 2017) Authors: Amyere, Mustapha; Revencu, Nicole; Helaers, Raphaël; Pairet, Eleonore; Baselga, Eulalia; Cordisco, Maria; Chung, Wendy; Dubois, Josée; Lacour, Jean-Philippe; Martorell, Loreto; Mazereeuw-Hautier, Juliette; Pyeritz, Reed E.; Amor, David J.; Bisdorff, Annouk; Blei, Francine; Bombei, Hannah; Dompmar... Journal: Circulation Issue: Volume 136:Issue 11(2017) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. NGLY1 deficiency—A rare congenital disorder of deglycosylation. Issue 1 (10th April 2020) Authors: Lipari Pinto, Patrícia; Machado, Catarina; Janeiro, Patrícia; Dupont, Juliette; Quintas, Sofia; Sousa, Ana Berta; Gaspar, Ana Journal: JIMD reports Issue: Volume 53:Issue 1(2020) Page Start: 2 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Peutz-Jeghers syndrome: early clinical expression of a new STK11 gene variant. (1st October 2015) Authors: Brito, Sara; Póvoas, Marta; Dupont, Juliette; Lopes, Ana Isabel Journal: BMJ case reports Issue: Volume 2015 Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Phenotype and genotype in 52 patients with Rubinstein–Taybi syndrome caused by EP300 mutations. Issue 12 (20th September 2016) Authors: Fergelot, Patricia; Van Belzen, Martine; Van Gils, Julien; Afenjar, Alexandra; Armour, Christine M.; Arveiler, Benoit; Beets, Lex; Burglen, Lydie; Busa, Tiffany; Collet, Marie; Deforges, Julie; de Vries, Bert B. A.; Dominguez Garrido, Elena; Dorison, Nathalie; Dupont, Juliette; Francannet, Christ... Journal: American journal of medical genetics Issue: Volume 170:Issue 12(2016) Page Start: 3069 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. WNT10B variants in split hand/foot malformation: Report of three novel families and review of the literature. Issue 7 (3rd May 2019) Authors: Brunelle, Perrine; Jourdain, Anne‐Sophie; Escande, Fabienne; Martinovic, Jelena; Dupont, Juliette; Busa, Tiffany; Moncla, Anne; Frénois, Frédéric; Stichelbout, Morgane; Manouvrier‐Hanu, Sylvie; Petit, Florence Journal: American journal of medical genetics Issue: Volume 179:Issue 7(2019) Page Start: 1351 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗