1. Autosomal recessive primary microcephaly due to ASPM mutations: An update. Issue 3 (16th January 2018) Authors: Létard, Pascaline; Drunat, Séverine; Vial, Yoann; Duerinckx, Sarah; Ernault, Anais; Amram, Daniel; Arpin, Stéphanie; Bertoli, Marta; Busa, Tiffany; Ceulemans, Berten; Desir, Julie; Doco‐Fenzy, Martine; Elalaoui, Siham Chafai; Devriendt, Koenraad; Faivre, Laurence; Francannet, Christine; Geneviève... Journal: Human mutation Issue: Volume 39:Issue 3(2018) Page Start: 319 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. De novo NUF2 variant in a novel inherited bone marrow failure syndrome including microcephaly and renal hypoplasia. (16th September 2022) Authors: Vial, Yoann; Lainey, Elodie; Leblanc, Thierry; Baudouin, Véronique; Dourthe, Marie Emilie; Gressens, Pierre; Verloes, Alain; Cavé, Hélène; Drunat, Séverine Journal: British journal of haematology Issue: Volume 199:Number 5(2022) Page Start: 739 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Digenic inheritance of human primary microcephaly delineates centrosomal and non‐centrosomal pathways. Issue 2 (27th November 2019) Authors: Duerinckx, Sarah; Jacquemin, Valérie; Drunat, Séverine; Vial, Yoann; Passemard, Sandrine; Perazzolo, Camille; Massart, Annick; Soblet, Julie; Racapé, Judith; Desmyter, Laurence; Badoer, Cindy; Papadimitriou, Sofia; Le Borgne, Yann‐Aël; Lefort, Anne; Libert, Frédérick; De Maertelaer, Viviane; Room... Journal: Human mutation Issue: Volume 41:Issue 2(2020) Page Start: 512 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Early treatment of neonatal diabetes with oral glibenclamide in an extremely preterm infant. Issue 2 (29th January 2023) Authors: Galderisi, Alfonso; Kermorvant‐Duchemin, Elsa; Daruich, Alejandra; Bonnard, Adeline Alice; Lapillonne, Alexandre; Aubelle, Marie‐Stéphanie; Perrella, Bruna; Vial, Yoann; Cave, Héléne; Berdugo, Marianne; Jarreau, Pierre‐Henri; Polak, Michel; Beltrand, Jacques Journal: JIMD reports Issue: Volume 64:Issue 2(2023) Page Start: 161 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Expanding the molecular spectrum of pathogenic SHOC2 variants underlying Mazzanti syndrome. Issue 16 (26th March 2022) Authors: Motta, Marialetizia; Solman, Maja; Bonnard, Adeline A; Kuechler, Alma; Pantaleoni, Francesca; Priolo, Manuela; Chandramouli, Balasubramanian; Coppola, Simona; Pizzi, Simone; Zara, Erika; Ferilli, Marco; Kayserili, Hülya; Onesimo, Roberta; Leoni, Chiara; Brinkmann, Julia; Vial, Yoann; Kamphausen, ... Journal: Human molecular genetics Issue: Volume 31:Issue 16(2022) Page Start: 2766 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. First clinical description of a pedigree with complete NAF1 deletion. Issue 2 (28th January 2023) Authors: Galtier, Jean; Dimicoli-Salazar, Sophie; Trimouille, Aurélien; Lainey, Elodie; Revy, Patrick; Bidet, Audrey; Vial, Yoann; Forcade, Edouard; Negrier-Leibreich, Marie-Laure; Rivière, Etienne; Tinat, Julie; Le Meur, Nathalie; Ménard, Christelle; Pigneux, Arnaud; Leguay, Thibaut; Dumas, Pierre-Yves; ... Journal: Leukemia & lymphoma Issue: Volume 64:Issue 2(2023) Page Start: 487 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Hereditary spherocytosis associated with Noonan syndrome mimicking a dyserythropoietic anaemia. Issue 4 (29th December 2022) Authors: Faggetter, Sarah; Ferster, Alina; Dedeken, Laurence; Demulder, Anne; David‐Nguyen, Ludvine; Fenneteau, Odile; Parisot, Melanie; Nitschke, Patrick; Vial, Yoann; Da Costa, Lydie Journal: Pediatric blood & cancer Issue: Volume 70:Issue 4(2023) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Hypophosphatemic rickets: A rare complication of congenital melanocytic nevus syndrome. Issue 3 (10th March 2020) Authors: Welfringer‐Morin, Anne; Pinto, Graziella; Baujat, Geneviève; Vial, Yoann; Hadj‐Rabia, Smail; Bodemer, Christine; Boccara, Olivia Journal: Pediatric dermatology Issue: Volume 37:Issue 3(2020) Page Start: 541 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Phosphoglycerate dehydrogenase (PHGDH) deficiency without epilepsy mimicking primary microcephaly. Issue 7 (25th April 2017) Authors: Poli, Antoine; Vial, Yoann; Haye, Damien; Passemard, Sandrine; Schiff, Manuel; Nasser, Hala; Delanoe, Catherine; Cuadro, Emma; Kom, Rémi; Elanga, Narcisse; Favre, Anne; Drunat, Séverine; Verloes, Alain Journal: American journal of medical genetics Issue: Volume 173:Issue 7(2017) Page Start: 1936 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. T-Cell Acute Lymphoblastic Leukemia in a Young Adult With Thrombocytopenia-absent Radius Syndrome: A Case Report and Review of the Literature. Issue 6 (18th August 2021) Authors: Beauvais, David; Cabannes-Hamy, Aurélie; Leblanc, Thierry; Dhédin, Nathalie; Magda, Alexis; Cuccuini, Wendy; Clappier, Emmanuelle; Vial, Yoann; Boissel, Nicolas Journal: Journal of pediatric hematology/oncology Issue: Volume 43:Issue 6(2021) Page Start: 232 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗