1. Alpha Satellite Insertion Close to an Ancestral Centromeric Region. (31st August 2021) Authors: Giannuzzi, Giuliana; Logsdon, Glennis A; Chatron, Nicolas; Miller, Danny E; Reversat, Julie; Munson, Katherine M; Hoekzema, Kendra; Bonnet-Dupeyron, Marie-Noëlle; Rollat-Farnier, Pierre-Antoine; Baker, Carl A; Sanlaville, Damien; Eichler, Evan E; Schluth-Bolard, Caroline; Reymond, Alexandre Editors: Satta, Yoko Journal: Molecular biology and evolution Issue: Volume 38:Number 12(2021) Page Start: 5576 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Clinical spectrum of STX1B-related epileptic disorders. (12th March 2019) Authors: Wolking, Stefan; May, Patrick; Mei, Davide; Møller, Rikke S.; Balestrini, Simona; Helbig, Katherine L.; Altuzarra, Cecilia Desmettre; Chatron, Nicolas; Kaiwar, Charu; Stöhr, Katharina; Widdess-Walsh, Peter; Mendelsohn, Bryce A.; Numis, Adam; Cilio, Maria R.; Van Paesschen, Wim; Svendsen, Lene L.;... Journal: Neurology Issue: Volume 92:Number 11(2019) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. CNTNAP1-encephalopathy: Six novel patients surviving the neonatal period. (March 2022) Authors: Garel, Pauline; Lesca, Gaetan; Ville, Dorothée; Poulat, Anne-Lise; Chatron, Nicolas; Sanlaville, Damien; Des Portes, Vincent; Arzimanoglou, Alexis; Lion-François, Laurence Journal: European journal of paediatric neurology Issue: Volume 37(2022) Page Start: 98 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Comment on "Trisomy 21 noninvasive prenatal testing for twin pregnancies". (20th May 2019) Authors: Chatron, Nicolas; Raymond, Laure; Schluth‐Bolard, Caroline; Bardel, Claire; Huissoud, Cyril; Nouchy, Marc; Sanlaville, Damien; Massoud, Mona Journal: Prenatal diagnosis Issue: Volume 39:Number 7(2019) Page Start: 571 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Comprehensive analysis of F8 large deletions: Characterization of full breakpoint junctions and description of a possible DNA breakage hotspot in intron 6. (16th August 2022) Authors: Jourdy, Yohann; Chatron, Nicolas; Fretigny, Mathilde; Dericquebourg, Amy; Sanlaville, Damien; Vinciguerra, Christine Journal: Journal of thrombosis and haemostasis Issue: Volume 20:Number 10(2022) Page Start: 2293 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Development of a new expanded next‐generation sequencing panel for genetic diseases involved in dyslipidemia. Issue 6 (4th September 2020) Authors: Marmontel, Oriane; Rollat‐Farnier, Pierre Antoine; Wozny, Anne‐Sophie; Charrière, Sybil; Vanhoye, Xavier; Simonet, Thomas; Chatron, Nicolas; Collin‐Chavagnac, Delphine; Nony, Séverine; Dumont, Sabrina; Mahl, Muriel; Jacobs, Chantal; Janin, Alexandre; Caussy, Cyrielle; Poinsot, Pierre; Tauveron, I... Journal: Clinical genetics Issue: Volume 98:Issue 6(2020) Page Start: 589 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Diagnosis of biotin-thiamine-responsive basal ganglia disease by whole-exome sequencing in a family with Leigh's syndrome. (June 2017) Authors: Rousselle, Christophe; Labalme, Audrey; Chatron, Nicolas; Gonnaud, Pierre-Marie; Devic, Perrine; Sanlaville, Damien; Lesca, Gaetan Journal: European journal of paediatric neurology Issue: Volume 21(2017)Supplement 1 Page Start: e175 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Electrical status epilepticus in sleep, a constitutive feature of Christianson syndrome?. (November 2018) Authors: Mathieu, Marie-Laure; de Bellescize, Julitta; Till, Marianne; Flurin, Vincent; Labalme, Audrey; Chatron, Nicolas; Sanlaville, Damien; Chemaly, Nicole; des Portes, Vincent; Ostrowsky, Karine; Arzimanoglou, Alexis; Lesca, Gaëtan Journal: European journal of paediatric neurology Issue: Volume 22:Number 6(2018:Nov.) Page Start: 1124 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Epileptic encephalopathy caused by BRAT1 mutations: Description of a novel patient. (June 2017) Authors: Putoux, Audrey; Chatron, Nicolas; Eyraud-Rousselle, Anne-Sophie; Labalme, Audrey; Streichenberger, Nathalie; Meyronet, David; De-Regnauld-De-Bellescize, Julitta; Sanlaville, Damien; Edery, Patrick; Lesca, Gaëtan Journal: European journal of paediatric neurology Issue: Volume 21(2017)Supplement 1 Page Start: e53 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Familial transmission of chromoanagenesis leads to unpredictable unbalanced rearrangements through meiotic recombination. Issue 4 (19th January 2023) Authors: Masson, Julie; Pebrel‐Richard, Céline; Egloff, Matthieu; Frétigny, Mathilde; Beaumont, Marion; Uguen, Kevin; Rollat‐Farnier, Pierre‐Antoine; Diguet, Flavie; Perthus, Isabelle; Le Gudayer, Gwenaël; Haye, Damien; Dupeyron, Marie‐Noëlle Bonnet; Putoux, Audrey; Raskin‐Champion, Fabienne; Till, Marian... Journal: Clinical genetics Issue: Volume 103:Issue 4(2023) Page Start: 401 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗