1. Homozygous FIBP nonsense variant responsible of syndromic overgrowth, with overgrowth, macrocephaly, retinal coloboma and learning disabilities. Issue 5 (20th January 2016) Authors: Thauvin‐Robinet, C.; Duplomb‐Jego, L.; Limoge, F.; Picot, D.; Masurel, A.; Terriat, B.; Champilou, C.; Minot, D.; St‐Onge, J.; Kuentz, P.; Duffourd, Y.; Thevenon, J.; Rivière, J.‐B.; Faivre, L. Journal: Clinical genetics Issue: Volume 89:Issue 5(2016) Page Start: e1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. 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) ↗