1. New splicing pathogenic variant in EBP causing extreme familial variability of Conradi–Hünermann–Happle Syndrome. (December 2018) Authors: Pacault, Mathilde; Vincent, Marie; Besnard, Thomas; Kannengiesser, Caroline; Bénéteau, Claire; Barbarot, Sébastien; Latypova, Xénia; Belabbas, Khaldia; Lamazière, Antonin; Winer, Norbert; Joubert, Madeleine; Bézieau, Stéphane; Isidor, Bertrand; Mercier, Sandra; Nizon, Mathilde; Leclerc-Mercier, S... Journal: European journal of human genetics Issue: Volume 26:Number 12(2018) Page Start: 1784 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. 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) ↗
3. 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) ↗
4. 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) ↗
5. 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) ↗
6. Targeted next‐generation sequencing in a large series of fetuses with severe renal diseases. Issue 3 (10th January 2022) Authors: Jordan, Penelope; Dorval, Guillaume; Arrondel, Christelle; Morinière, Vincent; Tournant, Carole; Audrezet, Marie‐Pierre; Michel‐Calemard, Laurence; Putoux, Audrey; Lesca, Gaethan; Labalme, Audrey; Whalen, Sandra; Loeuillet, Laurence; Martinovic, Jelena; Attie‐Bitach, Tania; Bessières, Bettina; Sc... Journal: Human mutation Issue: Volume 43:Issue 3(2022) Page Start: 347 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Further delineation of the female phenotype with KDM5C disease causing variants: 19 new individuals and review of the literature. Issue 1 (29th May 2020) Authors: Carmignac, Virginie; Nambot, Sophie; Lehalle, Daphné; Callier, Patrick; Moortgat, Stephanie; Benoit, Valérie; Ghoumid, Jamal; Delobel, Bruno; Smol, Thomas; Thuillier, Caroline; Zordan, Cécile; Naudion, Sophie; Bienvenu, Thierry; Touraine, Renaud; Ramond, Francis; Zweier, Christiane; Reis, André; ... Journal: Clinical genetics Issue: Volume 98:Issue 1(2020) Page Start: 43 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. First evidence of SOX2 mutations in Peters' anomaly: Lessons from molecular screening of 95 patients. Issue 5 (27th February 2022) Authors: Chesneau, Bertrand; Aubert‐Mucca, Marion; Fremont, Félix; Pechmeja, Jacmine; Soler, Vincent; Isidor, Bertrand; Nizon, Mathilde; Dollfus, Hélène; Kaplan, Josseline; Fares‐Taie, Lucas; Rozet, Jean‐Michel; Busa, Tiffany; Lacombe, Didier; Naudion, Sophie; Amiel, Jeanne; Rio, Marlène; Attie‐Bitach, Ta... Journal: Clinical genetics Issue: Volume 101:Issue 5/6(2022) Page Start: 494 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita. Issue 6 (5th April 2021) Authors: Laquerriere, Annie; Jaber, Dana; Abiusi, Emanuela; Maluenda, Jérome; Mejlachowicz, Dan; Vivanti, Alexandre; Dieterich, Klaus; Stoeva, Radka; Quevarec, Loic; Nolent, Flora; Biancalana, Valerie; Latour, Philippe; Sternberg, Damien; Capri, Yline; Verloes, Alain; Bessieres, Bettina; Loeuillet, Lauren... Journal: Journal of medical genetics Issue: Volume 59:Issue 6(2022) Page Start: 559 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. 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) ↗