1. A review of craniofacial disorders caused by spliceosomal defects. (1st May 2015) Authors: Lehalle, D.; Wieczorek, D.; Zechi‐Ceide, R.M.; Passos‐Bueno, M.R.; Lyonnet, S.; Amiel, J.; Gordon, C.T. Journal: Clinical genetics Issue: Volume 88:Number 5(2015:Nov.) Page Start: 405 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Clinical reappraisal of SHORT syndrome with PIK3R1 mutations: toward recommendation for molecular testing and management. Issue 4 (27th November 2015) Authors: Avila, M.; Dyment, D.A.; Sagen, J.V.; St‐Onge, J.; Moog, U.; Chung, B.H.Y.; Mo, S.; Mansour, S.; Albanese, A.; Garcia, S.; Martin, D.O.; Lopez, A.A.; Claudi, T.; König, R.; White, S.M.; Sawyer, S.L.; Bernstein, J.A.; Slattery, L.; Jobling, R.K.; Yoon, G. Journal: Clinical genetics Issue: Volume 89:Issue 4(2016) Page Start: 501 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Diagnostic criteria in Pai syndrome: results of a case series and a literature review. Issue 3 (March 2019) Authors: Morice, A.; Galliani, E.; Amiel, J.; Rachwalski, M.; Neiva, C.; Thauvin-Robinet, C.; Vazquez, M.-P.; Picard, A.; Kadlub, N. Journal: International journal of oral & maxillofacial surgery Issue: Volume 48:Issue 3(2019:Mar.) Page Start: 283 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Expanding the clinical spectrum of mosaic BRAF skin phenotypes. (11th June 2021) Authors: Sorlin, A.; Carmignac, V.; Amiel, J.; Boccara, O.; Fraitag, S.; Maruani, A.; Theiler, M.; Weibel, L.; Duffourd, Y.; Philippe, C.; Thauvin‐Robinet, C.; Faivre, L.; Rivière, J.‐B.; Vabres, P.; Kuentz, P. Journal: Journal of the European Academy of Dermatology and Venereology Issue: Volume 35:Number 10(2021) Page Start: e690 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. Infections related to Actinotignum schaalii (formerly Actinobaculum schaalii): a 3-year prospective observational study on 50 cases. (April 2016) Authors: Lotte, L.; Lotte, R.; Durand, M.; Degand, N.; Ambrosetti, D.; Michiels, J.-F.; Amiel, J.; Cattoir, V.; Ruimy, R. Journal: Clinical microbiology and infection Issue: Volume 22:Number 4(2016) Page Start: 388 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Molecular, clinical and neuropsychological study in 31 patients with Kabuki syndrome and KMT2D mutations. Issue 3 (18th May 2017) Authors: Lehman, N.; Mazery, A.C.; Visier, A.; Baumann, C.; Lachesnais, D.; Capri, Y.; Toutain, A.; Odent, S.; Mikaty, M.; Goizet, C.; Taupiac, E.; Jacquemont, M.L.; Sanchez, E.; Schaefer, E.; Gatinois, V.; Faivre, L.; Minot, D.; Kayirangwa, H.; Sang, K.‐H.L.Q.; Boddaert, N. Journal: Clinical genetics Issue: Volume 92:Issue 3(2017) Page Start: 298 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Nager syndrome: confirmation of SF3B4 haploinsufficiency as the major cause. (12th September 2013) Authors: Petit, F.; Escande, F.; Jourdain, A.S.; Porchet, N.; Amiel, J.; Doray, B.; Delrue, M.A.; Flori, E.; Kim, C.A.; Marlin, S.; Robertson, S.P.; Manouvrier‐Hanu, S.; Holder‐Espinasse, M. Journal: Clinical genetics Issue: Volume 86:Number 3(2014:Sep.) Page Start: 246 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. The association of severe encephalopathy and question mark ear is highly suggestive of loss of MEF2C function. Issue 2 (8th September 2017) Authors: Gordon, C.T.; Tessier, A.; Demir, Z.; Goldenberg, A.; Oufadem, M.; Voisin, N.; Pingault, V.; Bienvenu, T.; Lyonnet, S.; de Pontual, L.; Amiel, J. Journal: Clinical genetics Issue: Volume 93:Issue 2(2018) Page Start: 356 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗