1. Clinical and neuroimaging findings in 33 patients with MCAP syndrome: A survey to evaluate relevant endpoints for future clinical trials. Issue 5 (20th January 2021) Authors: Garde, Aurore; Guibaud, Laurent; Goldenberg, Alice; Petit, Florence; Dard, Rodolphe; Roume, Joelle; Mazereeuw‐Hautier, Juliette; Chassaing, Nicolas; Lacombe, Didier; Morice‐Picard, Fanny; Toutain, Annick; Arpin, Stéphanie; Boccara, Olivia; Touraine, Renaud; Blanchet, Patricia; Coubes, Christine; ... Journal: Clinical genetics Issue: Volume 99:Issue 5(2021) Page Start: 650 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Copy number variants calling from WES data through eXome hidden Markov model (XHMM) identifies additional 2.5% pathogenic genomic imbalances smaller than 30 kb undetected by array‐CGH. (9th February 2022) Authors: Tisserant, Emilie; Vitobello, Antonio; Callegarin, Davide; Verdez, Simon; Bruel, Ange‐line; Aho Glele, Ludwig Serge; Sorlin, Arthur; Viora‐Dupont, Eleonore; Konyukh, Marina; Marle, Nathalie; Nambot, Sophie; Moutton, Sébastien; Racine, Caroline; Garde, Aurore; Delanne, Julian; Tran‐Mau‐Them, Frédé... Journal: Annals of human genetics Issue: Volume 86:Number 4(2022) Page Start: 171 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Neuropsychological study in 19 French patients with White‐Sutton syndrome and POGZ mutations. Issue 3 (15th December 2020) Authors: Garde, Aurore; Cornaton, Jenny; Sorlin, Arthur; Moutton, Sébastien; Nicolas, Claire; Juif, Christine; Geneviève, David; Perrin, Laurence; Khau‐Van‐Kien, Philippe; Smol, Thomas; Vincent‐Delorme, Catherine; Isidor, Bertrand; Cogné, Benjamin; Afenjar, Alexandra; Keren, Boris; Coubes, Christine; Prie... Journal: Clinical genetics Issue: Volume 99:Issue 3(2021) Page Start: 407 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. NR2F1 regulates regional progenitor dynamics in the mouse neocortex and cortical gyrification in BBSOAS patients. (2nd June 2020) Authors: Bertacchi, Michele; Romano, Anna Lisa; Loubat, Agnès; Tran Mau‐Them, Frederic; Willems, Marjolaine; Faivre, Laurence; Khau van Kien, Philippe; Perrin, Laurence; Devillard, Françoise; Sorlin, Arthur; Kuentz, Paul; Philippe, Christophe; Garde, Aurore; Neri, Francesco; Di Giaimo, Rossella; Oliviero,... Journal: EMBO journal Issue: Volume 39:Number 13(2020) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. 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) ↗
6. 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) ↗
7. Refining the clinical phenotype associated with missense variants in exons 38 and 39 of KMT2D. Issue 5 (21st January 2022) Authors: Tharreau, Mylène; Garde, Aurore; Marlin, Sandrine; Morel, Godelieve; Ernest, Sylvain; Nambot, Sophie; Duffourd, Yannis; Ternoy, Ninon; Duvillard, Christian; Banka, Siddharth; Philippe, Christophe; Thauvin‐Robinet, Christel; Mau‐Them, Frederic Tran; Faivre, Laurence Journal: American journal of medical genetics Issue: Volume 188:Issue 5(2022) Page Start: 1600 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗