1. Mutations in GABRB3: From febrile seizures to epileptic encephalopathies. (31st January 2017) Authors: Møller, Rikke S.; Wuttke, Thomas V.; Helbig, Ingo; Marini, Carla; Johannesen, Katrine M.; Brilstra, Eva H.; Vaher, Ulvi; Borggraefe, Ingo; Talvik, Inga; Talvik, Tiina; Kluger, Gerhard; Francois, Laurence L.; Lesca, Gaetan; de Bellescize, Julitta; Blichfeldt, Susanne; Chatron, Nicolas; Holert, Nil... Journal: Neurology Issue: Volume 88:Number 5(2017) Page Start: 483 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. 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) ↗
3. Severe hemophilia A caused by an unbalanced chromosomal rearrangement identified using nanopore sequencing. (20th May 2019) Authors: Chatron, Nicolas; Schluth‐Bolard, Caroline; Frétigny, Mathilde; Labalme, Audrey; Vilchez, Gaëlle; Castet, Sabine‐Marie; Négrier, Claude; Sanlaville, Damien; Vinciguerra, Christine; Jourdy, Yohann Journal: Journal of thrombosis and haemostasis Issue: Volume 17:Number 7(2019) Page Start: 1097 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. 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) ↗
5. SOX3 duplication: A genetic cause to investigate in fetuses with neural tube defects. (9th August 2019) Authors: Hureaux, Marguerite; Ben Miled, Selima; Chatron, Nicolas; Coussement, Aurelie; Bessières, Bettina; Egloff, Matthieu; Mechler, Charlotte; Stirnemann, Julien; Tsatsaris, Vassilis; Barcia, Giulia; Turleau, Catherine; Ville, Yves; Encha‐Razavi, Ferechte; Attie‐Bitach, Tania; Malan, Valérie Journal: Prenatal diagnosis Issue: Volume 39:Number 11(2019) Page Start: 1026 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. 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) ↗
7. Genome sequencing in cytogenetics: Comparison of short‐read and linked‐read approaches for germline structural variant detection and characterization. Issue 3 (27th January 2020) Authors: Uguen, Kévin; Jubin, Claire; Duffourd, Yannis; Bardel, Claire; Malan, Valérie; Dupont, Jean‐Michel; El Khattabi, Laila; Chatron, Nicolas; Vitobello, Antonio; Rollat‐Farnier, Pierre‐Antoine; Baulard, Céline; Lelorch, Marc; Leduc, Aurélie; Tisserant, Emilie; Tran Mau‐Them, Frédéric; Danjean, Vincen... Journal: Molecular genetics & genomic medicine Issue: Volume 8:Issue 3(2020) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Variants in USP48 encoding ubiquitin hydrolase are associated with autosomal dominant non-syndromic hereditary hearing loss. Issue 19 (31st May 2021) Authors: Bassani, Sissy; van Beelen, Edward; Rossel, Mireille; Voisin, Norine; Morgan, Anna; Arribat, Yoan; Chatron, Nicolas; Chrast, Jacqueline; Cocca, Massimiliano; Delprat, Benjamin; Faletra, Flavio; Giannuzzi, Giuliana; Guex, Nicolas; Machavoine, Roxane; Pradervand, Sylvain; Smits, Jeroen J; van de Ka... Journal: Human molecular genetics Issue: Volume 30:Issue 19(2021) Page Start: 1785 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. 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) ↗
10. 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) ↗