11. Blepharophimosis, short humeri, developmental delay and hirschsprung disease: Expanding the phenotypic spectrum of MED12 mutations. Issue 7 (8th April 2014) Authors: Isidor, Bertrand; Lefebvre, Tiphaine; Le Vaillant, Claudine; Caillaud, Gaëlle; Faivre, Laurence; Jossic, Frédéric; Joubert, Madeleine; Winer, Norbert; Le Caignec, Cédric; Borck, Guntram; Pelet, Anna; Amiel, Jeanne; Toutain, Annick; Ronce, Nathalie; Raynaud, Martine; Verloes, Alain; David, Albert Journal: American journal of medical genetics Issue: Volume 164:Issue 7(2014.) Page Start: 1821 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
12. Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1. (16th January 2015) Authors: Crow, Yanick J.; Chase, Diana S.; Lowenstein Schmidt, Johanna; Szynkiewicz, Marcin; Forte, Gabriella M.A.; Gornall, Hannah L.; Oojageer, Anthony; Anderson, Beverley; Pizzino, Amy; Helman, Guy; Abdel‐Hamid, Mohamed S.; Abdel‐Salam, Ghada M.; Ackroyd, Sam; Aeby, Alec; Agosta, Guillermo; Albin, Cath... Journal: American journal of medical genetics Issue: Volume 167:Number 2(2015:Feb.) Page Start: 296 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
13. Chromosomal instability by mutations in the novel minor spliceosome component CENATAC. (19th May 2021) Authors: de Wolf, Bas; Oghabian, Ali; Akinyi, Maureen V; Hanks, Sandra; Tromer, Eelco C; van Hooff, Jolien J E; van Voorthuijsen, Lisa; van Rooijen, Laura E; Verbeeren, Jens; Uijttewaal, Esther C H; Baltissen, Marijke P A; Yost, Shawn; Piloquet, Philippe; Vermeulen, Michiel; Snel, Berend; Isidor, Bertrand... Journal: EMBO journal Issue: Volume 40:Number 14(2021) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
14. 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) ↗
15. Clinical and molecular characterization of five new individuals with WAC‐related intellectual disability: Evidence of pathogenicity for a novel splicing variant. Issue 5 (12th January 2022) Authors: Morales, Jose Andres; Valenzuela, Irene; Cuscó, Ivon; Cogné, Benjamin; Isidor, Bertrand; Matalon, Dena R.; Gomez‐Ospina, Natalia Journal: American journal of medical genetics Issue: Volume 188:Issue 5(2022) Page Start: 1396 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
16. Clinical and Molecular Spectrum of Nonsyndromic Early‐Onset Osteoarthritis. Issue 10 (25th August 2020) Authors: Ruault, Valentin; Yauy, Kevin; Fabre, Aurélie; Fradin, Mélanie; Van-Gils, Julien; Angelini, Chloé; Baujat, Geneviève; Blanchet, Patricia; Cuinat, Silvestre; Isidor, Bertrand; Jorgensen, Christian; Lacombe, Didier; Moutton, Sébastien; Odent, Sylvie; Sanchez, Elodie; Sigaudy, Sabine; Touitou, Isabe... Journal: Arthritis & rheumatology Issue: Volume 72:Issue 10(2020) Page Start: 1689 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
17. 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) ↗
18. De novo KCNA6 variants with attenuated KV1.6 channel deactivation in patients with epilepsy. Issue 2 (5th December 2022) Authors: Salpietro, Vincenzo; Galassi Deforie, Valentina; Efthymiou, Stephanie; O'Connor, Emer; Marcé‐Grau, Anna; Maroofian, Reza; Striano, Pasquale; Zara, Federico; Morrow, Michelle M.; Reich, Adi; Blevins, Amy; Sala‐Coromina, Júlia; Accogli, Andrea; Fortuna, Sara; Alesandrini, Marie; Au, P. Y. Billie; S... Journal: Epilepsia Issue: Volume 64:Issue 2(2023) Page Start: 443 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
19. De novo mutations in the X-linked TFE3 gene cause intellectual disability with pigmentary mosaicism and storage disorder-like features. Issue 12 (14th May 2020) Authors: Lehalle, Daphné; Vabres, Pierre; Sorlin, Arthur; Bierhals, Tatjana; Avila, Magali; Carmignac, Virginie; Chevarin, Martin; Torti, Erin; Abe, Yuichi; Bartolomaeus, Tobias; Clayton-Smith, Jill; Cogné, Benjamin; Cusco, Ivon; Duplomb, Laurence; De Bont, Eveline; Duffourd, Yannis; Duijkers, Floor; Elpe... Journal: Journal of medical genetics Issue: Volume 57:Issue 12(2020) Page Start: 808 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
20. De Novo Truncating Mutations in the Kinetochore‐Microtubules Attachment Gene CHAMP1 Cause Syndromic Intellectual Disability. Issue 4 (4th February 2016) Authors: Isidor, Bertrand; Küry, Sébastien; Rosenfeld, Jill A.; Besnard, Thomas; Schmitt, Sébastien; Joss, Shelagh; Davies, Sally J; Roger Lebel, Robert; Henderson, Alex; Schaaf, Christian P.; Streff, Haley E.; Yang, Yaping; Jain, Vani; Chida, Nodoka; Latypova, Xenia; Caignec, Cédric Le; Cogné, Benjamin; ... Journal: Human mutation Issue: Volume 37:Issue 4(2016) Page Start: 354 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗