1. Clinical and molecular findings in 39 patients with KBG syndrome caused by deletion or mutation of ANKRD11. Issue 11 (8th September 2016) Authors: Goldenberg, Alice; Riccardi, Florence; Tessier, Aude; Pfundt, Rolph; Busa, Tiffany; Cacciagli, Pierre; Capri, Yline; Coutton, Charles; Delahaye‐Duriez, Andree; Frebourg, Thierry; Gatinois, Vincent; Guerrot, Anne‐Marie; Genevieve, David; Lecoquierre, Francois; Jacquette, Aurélia; Khau Van Kien, Ph... Journal: American journal of medical genetics Issue: Volume 170:Issue 11(2016) Page Start: 2847 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Clinical study of 19 patients with SCN8A‐related epilepsy: Two modes of onset regarding EEG and seizures. (26th April 2019) Authors: Denis, Julien; Villeneuve, Nathalie; Cacciagli, Pierre; Mignon‐Ravix, Cecile; Lacoste, Caroline; Lefranc, Jeremie; Napuri, Sylvia; Damaj, Lena; Villega, Frederic; Pedespan, Jean‐Michel; Moutton, Sebastien; Mignot, Cyril; Doummar, Diane; Lion‐François, Laurence; Gataullina, Svetlana; Dulac, Olivie... Journal: Epilepsia Issue: Volume 60:issue 5(2019) Page Start: 845 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Deletion of YWHAE in a patient with periventricular heterotopias and pronounced corpus callosum hypoplasia. Issue 2 (26th July 2009) Authors: Mignon-Ravix, Cécile; Cacciagli, Pierre; El-Waly, Bilal; Moncla, Anne; Milh, Mathieu; Girard, Nadine; Chabrol, Brigitte; Philip, Nicole; Villard, Laurent Journal: Journal of medical genetics Issue: Volume 47:Issue 2(2010) Page Start: 132 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Epileptic patients with de novo STXBP1 mutations: Key clinical features based on 24 cases. (29th October 2015) Authors: Di Meglio, Chloé; Lesca, Gaetan; Villeneuve, Nathalie; Lacoste, Caroline; Abidi, Affef; Cacciagli, Pierre; Altuzarra, Cécilia; Roubertie, Agathe; Afenjar, Alexandra; Renaldo‐Robin, Florence; Isidor, Bertrand; Gautier, Agnes; Husson, Marie; Cances, Claude; Metreau, Julia; Laroche, Cécile; Chouchan... Journal: Epilepsia Issue: Volume 56:issue 12(2015:Dec.) Page Start: 1931 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Heterogeneity of FHF1 related phenotype: Novel case with early onset severe attacks of apnea, partial mitochondrial respiratory chain complex II deficiency, neonatal onset seizures without neurodegeneration. (September 2017) Authors: Villeneuve, Nathalie; Abidi, Affef; Cacciagli, Pierre; Mignon-Ravix, Cécile; Chabrol, Brigitte; Villard, Laurent; Milh, Mathieu Journal: European journal of paediatric neurology Issue: Volume 21:Number 5(2017:Sep.) Page Start: 783 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Intragenic rearrangements in X‐linked intellectual deficiency: Results of a‐CGH in a series of 54 patients and identification of TRPC5 and KLHL15 as potential XLID genes. Issue 8 (9th May 2014) Authors: Mignon‐Ravix, Cécile; Cacciagli, Pierre; Choucair, Nancy; Popovici, Cornel; Missirian, Chantal; Milh, Mathieu; Mégarbané, André; Busa, Tiffany; Julia, Sophie; Girard, Nadine; Badens, Catherine; Sigaudy, Sabine; Philip, Nicole; Villard, Laurent Journal: American journal of medical genetics Issue: Volume 164:Issue 8(2014.) Page Start: 1991 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Novel Compound Heterozygous Mutations in TBC1D24 Cause Familial Malignant Migrating Partial Seizures of Infancy. Issue 6 (12th April 2013) Authors: Milh, Mathieu; Falace, Antonio; Villeneuve, Nathalie; Vanni, Nicola; Cacciagli, Pierre; Assereto, Stefania; Nabbout, Rima; Benfenati, Fabio; Zara, Federico; Chabrol, Brigitte; Villard, Laurent; Fassio, Anna Journal: Human mutation Issue: Volume 34:Issue 6(2013:Jun.) Page Start: 869 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. The role of CNVs in the etiology of rare autosomal recessive disorders: the example of TRAPPC9-associated intellectual disability. (January 2018) Authors: Mortreux, Jérémie; Busa, Tiffany; Germain, Dominique; Nadeau, Gwenaël; Puechberty, Jacques; Coubes, Christine; Gatinois, Vincent; Cacciagli, Pierre; Duffourd, Yannis; Pinard, Jean-Marc; Tevissen, Hélène; Villard, Laurent; Sanlaville, Damien; Philip, Nicole; Missirian, Chantal Journal: European journal of human genetics Issue: Volume 26:Number 1(2018) Page Start: 143 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Variable clinical expression in patients with mosaicism for KCNQ2 mutations. (10th May 2015) Authors: Milh, Mathieu; Lacoste, Caroline; Cacciagli, Pierre; Abidi, Affef; Sutera‐Sardo, Julie; Tzelepis, Ilias; Colin, Estelle; Badens, Catherine; Afenjar, Alexandra; Coeslier, Anne Dieux; Dailland, Thomas; Lesca, Gaetan; Philip, Nicole; Villard, Laurent Journal: American journal of medical genetics Issue: Volume 167:Number 10(2015:Oct.) Page Start: 2314 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Variable clinical expression in patients with mosaicism for KCNQ2 mutations. (10th May 2015) Authors: Milh, Mathieu; Lacoste, Caroline; Cacciagli, Pierre; Abidi, Affef; Sutera‐Sardo, Julie; Tzelepis, Ilias; Colin, Estelle; Badens, Catherine; Afenjar, Alexandra; Coeslier, Anne Dieux; Dailland, Thomas; Lesca, Gaetan; Philip, Nicole; Villard, Laurent Journal: American journal of medical genetics Issue: Volume 167:Number 10(2015:Oct.) Page Start: 2314 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗