1. 11q24.2q24.3 microdeletion in two families presenting features of Jacobsen syndrome, without intellectual disability: Role of FLI1, ETS1, and SENCR long noncoding RNA. Issue 6 (19th March 2019) Authors: Conrad, Solène; Demurger, Florence; Moradkhani, Kamran; Pichon, Olivier; Le Caignec, Cédric; Pascal, Cécile; Thomas, Caroline; Bayart, Sophie; Perlat, Antoinette; Dubourg, Christèle; Jaillard, Sylvie; Nizon, Mathilde Journal: American journal of medical genetics Issue: Volume 179:Issue 6(2019) Page Start: 993 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. 14q32.11 microdeletion including CALM1, TTC7B, PSMC1, and RPS6KA5: A new potential cause of developmental and language delay in three unrelated patients. Issue 5 (25th February 2021) Authors: Eno, Celeste C.; Graakjaer, Jesper; Svaneby, Dea; Nizon, Mathilde; Kianmahd, Jessica; Signer, Rebecca; Martinez‐Agosto, Julian A.; Quintero‐Rivera, Fabiola Journal: American journal of medical genetics Issue: Volume 185:Issue 5(2021) Page Start: 1519 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. 19p13 microduplications encompassing NFIX are responsible for intellectual disability, short stature and small head circumference. (January 2018) Authors: Trimouille, Aurélien; Houcinat, Nada; Vuillaume, Marie-Laure; Fergelot, Patricia; Boucher, Cécile; Toutain, Jérôme; Caignec, Cédric; Vincent, Marie; Nizon, Mathilde; Andrieux, Joris; Vanlerberghe, Clémence; Delobel, Bruno; Duban, Bénédicte; Mansour, Sahar; Baple, Emma; McKeown, Colina; Poke, Gemm... Journal: European journal of human genetics Issue: Volume 26:Number 1(2018) Page Start: 85 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. A step towards precision medicine in management of severe transient polyhydramnios: MAGED2 variant. (3rd April 2019) Authors: Arthuis, Chloé J.; Nizon, Mathilde; Kömhoff, Martin; Beck, Bodo B.; Riehmer, Vera; Bihouée, Tiphaine; Bruel, Alexandra; Benbrik, Nadir; Winer, Norbert; Isidor, Bertrand Journal: Journal of obstetrics and gynaecology Issue: Volume 39:Number 3(2019) Page Start: 395 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. 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) ↗
6. Bilateral retinoblastoma due to a germline mutation of RB1 in a child with down syndrome. (2nd January 2019) Authors: Le Grignou, Marie; Bleriot, Alice; Nizon, Mathilde; Pacquement, Hélène; Houdayer, Claude; Thebaud, Estelle; Le Meur, Guylène; Isidor, Bertrand Journal: Ophthalmic genetics Issue: Volume 40:Number 1(2019) Page Start: 86 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Clinical and genomic delineation of the new proximal 19p13.3 microduplication syndrome. Issue 1 (5th October 2022) Authors: Jouret, Guillaume; Egloff, Matthieu; Landais, Emilie; Tassy, Olivier; Giuliano, Fabienne; Karmous‐Benailly, Houda; Coutton, Charles; Satre, Véronique; Devillard, Françoise; Dieterich, Klaus; Vieville, Gaëlle; Kuentz, Paul; le Caignec, Cédric; Beneteau, Claire; Isidor, Bertrand; Nizon, Mathilde; C... Journal: American journal of medical genetics Issue: Volume 191:Issue 1(2023) Page Start: 52 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Contactin-Associated Protein 1 (CNTNAP1) Mutations Induce Characteristic Lesions of the Paranodal Region. Issue 12 (December 2016) Authors: Vallat, Jean-Michel; Nizon, Mathilde; Magee, Alex; Isidor, Bertrand; Magy, Laurent; Péréon, Yann; Richard, Laurence; Ouvrier, Robert; Cogné, Benjamin; Devaux, Jérôme; Zuchner, Stephan; Mathis, Stéphane Journal: Journal of neuropathology and experimental neurology Issue: Volume 75:Issue 12(2016) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Delineation of the clinical profile of CNOT2 haploinsufficiency and overview of the IDNADFS phenotype. Issue 2 (24th November 2022) Authors: Niceta, Marcello; Pizzi, Simone; Inzana, Francesca; Peron, Angela; Bakhtiari, Somayeh; Nizon, Mathilde; Levy, Jonathan; Mancini, Cecilia; Cogné, Benjamin; Radio, Francesca Clementina; Agolini, Emanuele; Cocciadiferro, Dario; Novelli, Antonio; Salih, Mustafa A.; Recalcati, Maria Paola; Arancio, Ro... Journal: Clinical genetics Issue: Volume 103:Issue 2(2023) Page Start: 156 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Familial autosomal dominant severe ankyloglossia with tooth abnormalities. Issue 7 (28th April 2018) Authors: Lenormand, Anaëlle; Khonsari, Roman; Corre, Pierre; Perrin, Jean Philippe; Boscher, Cécile; Nizon, Mathilde; Pichon, Olivier; David, Albert; Le Caignec, Cedric; Bertin, Helios; Isidor, Bertrand Journal: American journal of medical genetics Issue: Volume 176:Issue 7(2018) Page Start: 1614 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗