11. New recessive mutations in SYT2 causing severe presynaptic congenital myasthenic syndromes. (December 2020) Authors: Bauché, Stéphanie; Sureau, Alain; Sternberg, Damien; Rendu, John; Buon, Céline; Messéant, Julien; Boëx, Myriam; Furling, Denis; Fauré, Julien; Latypova, Xénia; Gelot, Antoinette Bernabe; Mayer, Michèle; Mary, Pierre; Whalen, Sandra; Fournier, Emmanuel; Cloix, Isabelle; Remerand, Ganaelle; Laffarg... Journal: Neurology Issue: Volume 6:Number 6(2020) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
12. Patients with KCNH1-related intellectual disability without distinctive features of Zimmermann-Laband/Temple-Baraitser syndrome. Issue 5 (2nd April 2021) Authors: Aubert Mucca, Marion; Patat, Olivier; Whalen, Sandra; Arnaud, Lionel; Barcia, Giulia; Buratti, Julien; Cogné, Benjamin; Doummar, Diane; Karsenty, Caroline; Kenis, Sandra; Leguern, Eric; Lesca, Gaetan; Nava, Caroline; Nizon, Mathilde; Piton, Amelie; Valence, Stéphanie; Villard, Laurent; Weckhuysen... Journal: Journal of medical genetics Issue: Volume 59:Issue 5(2022) Page Start: 505 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
13. 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) ↗
14. Polymicrogyria with Dysmorphic Neurons in a Patient with SCN2A Mutation. Issue 9 (4th July 2022) Authors: Gelot, Antoinette-Bernabe; Courtin, Thomas; Sileo, Chiara; Keren, Boris; Soreze-Smagghue, Yohan; Whalen, Sandra; Represa, Alfonso Journal: Journal of neuropathology and experimental neurology Issue: Volume 81:Issue 9(2022) Page Start: 758 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
15. Polymicrogyria with Dysmorphic Neurons in a Patient with SNCA2 Mutation. Issue 9 (4th July 2022) Authors: Gelot, Antoinette-Bernabe; Courtin, Thomas; Sileo, Chiara; Keren, Boris; Soreze-Smagghue, Yohan; Whalen, Sandra; Represa, Alfonso Journal: Journal of neuropathology and experimental neurology Issue: Volume 81:Issue 9(2022) Page Start: 758 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
16. PURA-Related Developmental and Epileptic Encephalopathy: Phenotypic and Genotypic Spectrum. (15th December 2021) Authors: Johannesen, Katrine M.; Gardella, Elena; Gjerulfsen, Cathrine E.; Bayat, Allan; Rouhl, Rob P.W.; Reijnders, Margot; Whalen, Sandra; Keren, Boris; Buratti, Julien; Courtin, Thomas; Wierenga, Klaas J.; Isidor, Bertrand; Piton, Amélie; Faivre, Laurence; Garde, Aurore; Moutton, Sébastien; Tran-Mau-Th... Journal: Neurology Issue: Volume 7:Number 6(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
17. PURA-Related Developmental and Epileptic Encephalopathy: Phenotypic and Genotypic Spectrum. (December 2021) Authors: Johannesen, Katrine M.; Gardella, Elena; Gjerulfsen, Cathrine E.; Bayat, Allan; Rouhl, Rob P.W.; Reijnders, Margot; Whalen, Sandra; Keren, Boris; Buratti, Julien; Courtin, Thomas; Wierenga, Klaas J.; Isidor, Bertrand; Piton, Amélie; Faivre, Laurence; Garde, Aurore; Moutton, Sébastien; Tran-Mau-Th... Journal: Neurology Issue: Volume 7:Number 6(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
18. Recurrent de novo missense variants in GNB2 can cause syndromic intellectual disability. Issue 5 (28th June 2021) Authors: Tan, Natalie B; Pagnamenta, Alistair T; Ferla, Matteo P; Gadian, Jonathan; Chung, Brian HY; Chan, Marcus CY; Fung, Jasmine LF; Cook, Edwin; Guter, Stephen; Boschann, Felix; Heinen, Andre; Schallner, Jens; Mignot, Cyril; Keren, Boris; Whalen, Sandra; Sarret, Catherine; Mittag, Dana; Demmer, Laurie... Journal: Journal of medical genetics Issue: Volume 59:Issue 5(2022) Page Start: 511 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
19. TAR syndrome: Clinical and molecular characterization of a cohort of 26 patients and description of novel noncoding variants of RBM8A. Issue 7 (6th April 2020) Authors: Boussion, Simon; Escande, Fabienne; Jourdain, Anne‐Sophie; Smol, Thomas; Brunelle, Perrine; Duhamel, Céline; Alembik, Yves; Attié‐Bitach, Tania; Baujat, Geneviève; Bazin, Anne; Bonnière, Maryse; Carassou, Philippe; Carles, Dominique; Devisme, Louise; Goizet, Cyril; Goldenberg, Alice; Grotto, Sara... Journal: Human mutation Issue: Volume 41:Issue 7(2020) Page Start: 1220 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
20. 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) ↗