1. 6q22.1 deletion is associated with epilepsy and abnormal movements. (June 2017) Authors: Schluth-Bolard, C.; Flamand-Roze, E.; Masurel, A.; Olivier-Faivre, L.; Callier, P.; Charles, P.; Keren, B.; Guillot, N.; Labalme, A.; Sanlaville, D.; Mochel, F.; Des Portes, V.; Lesca, G. Journal: European journal of paediatric neurology Issue: Volume 21(2017)Supplement 1 Page Start: e52 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A novel homozygous truncating mutation of the SFRP4 gene in Pyle's disease. Issue 1 (16th January 2017) Authors: Chatron, N.; Lesca, G.; Labalme, A.; Rollat‐Farnier, P.A.; Monin, P.; Pichot, E.; Edery, P.; Sanlaville, D.; Rossi, M. Journal: Clinical genetics Issue: Volume 92:Issue 1(2017) Page Start: 112 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Detection of rare autosomal trisomies through non‐invasive prenatal testing: benefits for pregnancy management. (2nd January 2019) Authors: Chatron, N.; Till, M.; Abel, C.; Bardel, C.; Ramond, F.; Sanlaville, D.; Schluth‐Bolard, C. Journal: Ultrasound in obstetrics & gynecology Issue: Volume 53:Number 1(2019) Page Start: 129 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. EP08.02: Cerebral imaging features of a new syndromic entity related to KIAA1109 loss‐of‐function variants. (15th October 2018) Authors: Guibaud, L.; Putoux, A.; Cabet, S.; Buenerd, A.; Gueneau, L.; Reymond, A.; Sanlaville, D.; Iesca, G. Journal: Ultrasound in obstetrics & gynecology Issue: Volume 52(2018)Supplement 1 Page Start: 222 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Genetic counselling difficulties and ethical implications of incidental findings from array‐CGH: a 7‐year national survey. Issue 5 (4th January 2016) Authors: Lefebvre, M.; Sanlaville, D.; Marle, N.; Thauvin‐Robinet, C.; Gautier, E.; Chehadeh, S.E.; Mosca‐Boidron, A.‐L.; Thevenon, J.; Edery, P.; Alex‐Cordier, M.‐P.; Till, M.; Lyonnet, S.; Cormier‐Daire, V.; Amiel, J.; Philippe, A.; Romana, S.; Malan, V.; Afenjar, A.; Marlin, S.; Chantot‐Bastaraud, S. Journal: Clinical genetics Issue: Volume 89:Issue 5(2016) Page Start: 630 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Homozygous PKP2 deletion associated with neonatal left ventricle noncompaction. Issue 1 (26th April 2016) Authors: Ramond, F.; Janin, A.; Di Filippo, S.; Chanavat, V.; Chalabreysse, L.; Roux‐Buisson, N.; Sanlaville, D.; Touraine, R.; Millat, G. Journal: Clinical genetics Issue: Volume 91:Issue 1(2017) Page Start: 126 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Incidental findings on array comparative genomic hybridization: detection of carrier females of dystrophinopathy without any family history. (21st July 2014) Authors: Nguyen, K.; Putoux, A.; Busa, T.; Cordier, M.P.; Sigaudy, S.; Till, M.; Chabrol, B.; Michel‐Calemard, L.; Bernard, R.; Julia, S.; Malzac, P.; Labalme, A.; Missirian, C.; Edery, P.; Popovici, C.; Philip, N.; Sanlaville, D. Journal: Clinical genetics Issue: Volume 87:Number 5(2015:May) Page Start: 488 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Mapping of chromosomal balanced rearrangements by whole-genome sequencing identifies genes involved in epilepsy. (June 2017) Authors: Masson, J.; Diguet, F.; Rollat-Farnier, P.A.; Mazoyer, S.; Lesca, G.; Kremer, V.; Flori, E.; Portnoï, M.F.; Siffroi, J.P.; Valence, S.; Till, M.; Edery, P.; Sanlaville, D.; Schluth-Bolard, C. Journal: European journal of paediatric neurology Issue: Volume 21(2017)Supplement 1 Page Start: e52 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Molecular characterization of 39 de novo sSMC: contribution to prognosis and genetic counselling, a prospective study. (5th April 2013) Authors: Marle, N.; Martinet, D.; Aboura, A.; Joly‐Helas, G.; Andrieux, J.; Flori, E.; Puechberty, J.; Vialard, F.; Sanlaville, D.; Fert Ferrer, S.; Bourrouillou, G.; Tabet, A.C.; Quilichini, B.; Simon‐Bouy, B.; Bazin, A.; Becker, M.; Stora, H.; Amblard, S.; Doco‐Fenzy, M.; Molina Gomes, D. Journal: Clinical genetics Issue: Volume 85:Number 3(2014:Mar.) Page Start: 233 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Molecular cytogenetic characterization of five F8 complex rearrangements: utility for haemophilia A genetic counselling. Issue 4 (5th May 2017) Authors: Jourdy, Y.; Chatron, N.; Fretigny, M.; Carage, M. L.; Chambost, H.; Claeyssens‐Donadel, S.; Roussel‐Robert, V.; Negrier, C.; Sanlaville, D.; Vinciguerra, C. Journal: Haemophilia Issue: Volume 23:Issue 4(2017) Page Start: e316 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗